diff --git a/output/b37/multi/clinvar_allele_trait_pairs.multi.b37.tsv.gz b/output/b37/multi/clinvar_allele_trait_pairs.multi.b37.tsv.gz index f89d214..11d62b0 100644 Binary files a/output/b37/multi/clinvar_allele_trait_pairs.multi.b37.tsv.gz and b/output/b37/multi/clinvar_allele_trait_pairs.multi.b37.tsv.gz differ diff --git a/output/b37/multi/clinvar_allele_trait_pairs.multi.b37.tsv.gz.tbi b/output/b37/multi/clinvar_allele_trait_pairs.multi.b37.tsv.gz.tbi index b68f833..6c92801 100644 Binary files a/output/b37/multi/clinvar_allele_trait_pairs.multi.b37.tsv.gz.tbi and b/output/b37/multi/clinvar_allele_trait_pairs.multi.b37.tsv.gz.tbi differ diff --git a/output/b37/multi/clinvar_allele_trait_pairs_example_750_rows.multi.b37.tsv b/output/b37/multi/clinvar_allele_trait_pairs_example_750_rows.multi.b37.tsv index 4b51ca7..890f2f2 100644 --- a/output/b37/multi/clinvar_allele_trait_pairs_example_750_rows.multi.b37.tsv +++ b/output/b37/multi/clinvar_allele_trait_pairs_example_750_rows.multi.b37.tsv @@ -1,7 +1,7 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_id symbol hgvs_c hgvs_p molecular_consequence clinical_significance clinical_significance_ordered pathogenic likely_pathogenic uncertain_significance likely_benign benign review_status review_status_ordered last_evaluated all_submitters submitters_ordered all_traits all_pmids inheritance_modes age_of_onset prevalence disease_mechanism origin xrefs dates_ordered 1 7869953 C G 7869953 7869953 + Haplotype 224889 RCV000210468 SCV000266565 226735 PER3 NM_001289862.1:c.1243C>G NP_001276791.1:p.Pro415Ala NM_001289862.1:c.1243C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-10-17 OMIM OMIM Advanced sleep phase syndrome, familial, 3;ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (1 family) 26903630 germline MedGen:C4225169;OMIM:616882;Orphanet:164736 2016-10-17 1 7869960 A G 7869960 7869960 + Haplotype 224889 RCV000210468 SCV000266565 226734 PER3 NM_001289862.1:c.1250A>G NP_001276791.1:p.His417Arg NM_001289862.1:c.1250A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-10-17 OMIM OMIM Advanced sleep phase syndrome, familial, 3;ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (1 family) 26903630 germline MedGen:C4225169;OMIM:616882;Orphanet:164736 2016-10-17 -1 8045031 G A 8045031 8045031 + Haplotype 60700 RCV000007484 SCV000027684 22107 PARK7 NM_007262.4:c.487G>A NP_009193.2:p.Glu163Lys NM_007262.4:c.487G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-10-08 OMIM OMIM Parkinson disease 7;PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 16240358;20301402;23279440 germline GeneReviews:NBK1223;Genetic Alliance:Parkinson+disease+7/9090;MedGen:C1853445;OMIM:602533.0001;OMIM:602533.0002;OMIM:602533.0003;OMIM:602533.0004;OMIM:602533.0005;OMIM:602533.0006;OMIM:606324;Orphanet:2828 2012-10-08 +1 8045031 G A 8045031 8045031 + Haplotype 446717 RCV000007484 SCV000027684 22107 PARK7 NM_007262.4:c.487G>A NP_009193.2:p.Glu163Lys NM_007262.4:c.487G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-11-01 OMIM OMIM Parkinson disease 7;PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 16240358;20301402;23279440 germline GeneReviews:NBK1223;Genetic Alliance:Parkinson+disease+7/9090;MedGen:C1853445;OMIM:602533.0001;OMIM:602533.0002;OMIM:602533.0003;OMIM:602533.0004;OMIM:602533.0005;OMIM:602533.0006;OMIM:606324;Orphanet:2828 2005-11-01 1 25627552 C G 25627552 25627552 + Haplotype 202166 RCV000184007 SCV000236501 198596 RHD NM_016124.4:c.602C>G NP_057208.2:p.Thr201Arg NM_016124.4:c.602C>G:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 0000-00-00 Colsan Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 1 25627552 C G 25627552 25627552 + Haplotype 208474 RCV000190496 SCV000245368 198596 RHD NM_016124.4:c.602C>G NP_057208.2:p.Thr201Arg NM_016124.4:c.602C>G:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 0000-00-00 Colsan Colsan Weak RhD expression;Weak RhD expression unknown MedGen:CN231363 0000-00-00 1 25628043 T G 25628043 25628043 + Haplotype 202166 RCV000184007 SCV000236501 198597 RHD NM_016124.4:c.667T>G NP_057208.2:p.Phe223Val NM_016124.4:c.667T>G:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 0000-00-00 Colsan Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 @@ -17,7 +17,9 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 25747230 G C 25747230 25747230 - Haplotype 17709 RCV000019283 SCV000039571 32748 RHCE NM_020485.5:c.48G= NP_065231.3:p.Trp16= NM_020485.5:c.48G=:synonymous variant Benign benign 0 0 0 0 1 no assertion criteria provided no assertion criteria provided 1993-09-01 OMIM OMIM RH C/c POLYMORPHISM;RH C/c POLYMORPHISM 8220426 germline OMIM:111700.0002 1993-09-01 1 53676401 T G 53676401 53676401 + Haplotype 30118 RCV000023026 SCV000044317 39073 CPT2 NM_000098.2:c.1055T>G NP_000089.1:p.Phe352Cys NM_000098.2:c.1055T>G:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-08-01 OMIM OMIM Encephalopathy, acute, infection-induced, 4, susceptibility to;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 15811315;18306170;20934285;21697855 germline Genetic Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308;MedGen:C3280160;OMIM:614212;Orphanet:263524 2011-08-01 1 53676448 G A 53676448 53676448 + Haplotype 30118 RCV000023026 SCV000044317 39074 CPT2 NM_000098.2:c.1102G>A NP_000089.1:p.Val368Ile NM_000098.2:c.1102G>A:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-08-01 OMIM OMIM Encephalopathy, acute, infection-induced, 4, susceptibility to;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 15811315;18306170;20934285;21697855 germline Genetic Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308;MedGen:C3280160;OMIM:614212;Orphanet:263524 2011-08-01 +1 53676583 CAG C 53676585 53676586 + Haplotype 60702 RCV000009520 SCV000029738 98339 CPT2 NM_000098.2:c.1239_1240delGA NP_000089.1:p.Lys414Thrfs NM_000098.2:c.1239_1240delGA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-11-01 OMIM OMIM Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED 10090476;11477613;12410208;20301431 germline GeneReviews:NBK1253;MedGen:C1833508;OMIM:255110;Orphanet:157;Orphanet:228302 2002-11-01 1 53676583 CAG C 53676585 53676586 + Haplotype 60702 RCV000202553 SCV000153666 98339 CPT2 NM_000098.2:c.1239_1240delGA NP_000089.1:p.Lys414Thrfs NM_000098.2:c.1239_1240delGA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-05-15 GeneReviews GeneReviews Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency 10090476;20301431;25173338 germline GeneReviews:NBK1253;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 2014-05-15 +1 53676688 T C 53676688 53676688 + Haplotype 60702 RCV000009520 SCV000029738 23999 CPT2 NM_000098.2:c.1342T>C NP_000089.1:p.Phe448Leu NM_000098.2:c.1342T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-11-01 OMIM OMIM Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED 10090476;11477613;12410208;20301431 germline GeneReviews:NBK1253;MedGen:C1833508;OMIM:255110;Orphanet:157;Orphanet:228302 2002-11-01 1 53676688 T C 53676688 53676688 + Haplotype 60702 RCV000202553 SCV000153666 23999 CPT2 NM_000098.2:c.1342T>C NP_000089.1:p.Phe448Leu NM_000098.2:c.1342T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-05-15 GeneReviews GeneReviews Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency 10090476;20301431;25173338 germline GeneReviews:NBK1253;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 2014-05-15 1 55331078 C G 55331078 55331078 - Haplotype 4368 RCV000004616 SCV000024790 38433 DHCR24 NM_014762.3:c.918G>C NP_055577.1:p.Lys306Asn NM_014762.3:c.918G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2001-10-01 OMIM OMIM Desmosterolosis;DESMOSTEROLOSIS 11519011 germline GeneTests:238860;Genetic Alliance:Desmosterolosis/2221;MedGen:C1865596;OMIM:602398;Office of Rare Diseases:10283;Orphanet:35107 2001-10-01 1 55331115 T G 55331115 55331115 - Haplotype 4368 RCV000004616 SCV000024790 19407 DHCR24 NM_014762.3:c.881A>C NP_055577.1:p.Asn294Thr NM_014762.3:c.881A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2001-10-01 OMIM OMIM Desmosterolosis;DESMOSTEROLOSIS 11519011 germline GeneTests:238860;Genetic Alliance:Desmosterolosis/2221;MedGen:C1865596;OMIM:602398;Office of Rare Diseases:10283;Orphanet:35107 2001-10-01 @@ -77,6 +79,9 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 179545051 G C 179545051 179545051 - Haplotype 225143 RCV000210779 SCV000266491 227037 NPHS2 NM_014625.3:c.-52C>G NM_014625.3:c.-52C>G:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-01-01 Human Genetics Disease in Children – Taif University,Taif University Human Genetics Disease in Children – Taif University,Taif University Nephrotic syndrome, idiopathic, steroid-resistant unknown Genetic Alliance:Nephrotic+syndrome%2C+idiopathic%2C+steroid-resistant/5149;MedGen:C1868672;OMIM:600995;Office of Rare Diseases:3946;Orphanet:656 2016-01-01 1 183543642 T C 183543642 183543642 - Haplotype 2240 RCV000002328 SCV000022486 38423 NCF2 NM_000433.3:c.481A>G NP_000424.2:p.Lys161Glu NM_000433.3:c.481A>G:missense variant;NM_001190789.1:c.366+3092A>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-02-24 OMIM OMIM Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II 22876374;9070911 germline GeneReviews:NBK99496;Genetic Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977;MedGen:C1856245;OMIM:233710;Orphanet:379 1997-02-24 1 183543644 T A 183543644 183543644 - Haplotype 2240 RCV000002328 SCV000022486 17279 NCF2 NM_000433.3:c.479A>T NP_000424.2:p.Asp160Val NM_000433.3:c.479A>T:missense variant;NM_001190789.1:c.366+3090A>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-02-24 OMIM OMIM Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II 22876374;9070911 germline GeneReviews:NBK99496;Genetic Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977;MedGen:C1856245;OMIM:233710;Orphanet:379 1997-02-24 +1 207627693 T C 207627693 207627693 + Haplotype 17065 RCV000018594 SCV000038877 472254 CR2 NM_001006658.2:c.-71T>C risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2007-03-06 OMIM OMIM Systemic lupus erythematosus 9;SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 17360460 germline Genetics Home Reference:systemic-lupus-erythematosus;MedGen:C1970455;OMIM:120650.0001;OMIM:610927 2007-03-06 +1 207646322 G A 207646322 207646322 + Haplotype 17065 RCV000018594 SCV000038877 389365 CR2 NM_001006658.2:c.1776G>A NP_001006659.1:p.Leu592= NM_001006658.2:c.1776G>A:synonymous variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2007-03-06 OMIM OMIM Systemic lupus erythematosus 9;SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 17360460 germline Genetics Home Reference:systemic-lupus-erythematosus;MedGen:C1970455;OMIM:120650.0001;OMIM:610927 2007-03-06 +1 207646462 G A 207646462 207646462 + Haplotype 17065 RCV000018594 SCV000038877 389363 CR2 NM_001006658.2:c.1916G>A NP_001006659.1:p.Ser639Asn NM_001006658.2:c.1916G>A:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2007-03-06 OMIM OMIM Systemic lupus erythematosus 9;SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 17360460 germline Genetics Home Reference:systemic-lupus-erythematosus;MedGen:C1970455;OMIM:120650.0001;OMIM:610927 2007-03-06 1 209880216 C CA 209880218 209880218 + Haplotype 8911 RCV000009466 SCV000029684 23950 HSD11B1 NM_181755.2:c.331+53_331+54insA NM_181755.2:c.331+53_331+54insA:intron variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2007-01-01 OMIM OMIM Cortisone reductase deficiency 2;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 12858176;15827106;16091483;16817821;17062770 germline Genetic Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103;MedGen:C3553382;OMIM:614662;Orphanet:168588 2007-01-01 1 209880259 T G 209880259 209880259 + Haplotype 8911 RCV000009466 SCV000029684 76328 HSD11B1 NM_181755.2:c.332-29T>G NM_181755.2:c.332-29T>G:intron variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2007-01-01 OMIM OMIM Cortisone reductase deficiency 2;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 12858176;15827106;16091483;16817821;17062770 germline Genetic Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103;MedGen:C3553382;OMIM:614662;Orphanet:168588 2007-01-01 1 211093297 C G 211093297 211093297 - Haplotype 203434 RCV000185594 SCV000238503 181518 KCNH1 NM_172362.2:c.1147G>C NP_758872.1:p.Val383Leu NM_172362.2:c.1147G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-06-01 OMIM OMIM Zimmermann-Laband syndrome 1;ZIMMERMANN-LABAND SYNDROME 1 18541964;25915598 germline Gene:353173;Genetic Alliance:Laband+syndrome/4062;MedGen:CN032818;OMIM:135500;Orphanet:3473 2015-06-01 @@ -85,6 +90,9 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 227173033 G A 227173033 227173033 + Haplotype 217876 RCV000201953 SCV000256872 18675 COQ8A NM_020247.4:c.1651G>A NP_064632.2:p.Glu551Lys NM_020247.4:c.1651G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-06-16 Mendelics Analise Genomica Mendelics Analise Genomica Coenzyme Q10 deficiency, primary, 4 18319072;20580948;28125198 germline GeneReviews:NBK410087;Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342;MedGen:C2677589;OMIM:612016;Orphanet:139485 2014-06-16 1 229568534 G A 229568534 229568534 - Haplotype 18293 RCV000019955 SCV000040253 38498 ACTA1 NM_001100.3:c.223C>T NP_001091.1:p.His75Tyr NM_001100.3:c.223C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-07-01 OMIM OMIM Nemaline myopathy 3;NEMALINE MYOPATHY 3 19553116;20301465;22510848 germline GeneReviews:NBK1288;Genetic Alliance:Nemaline+myopathy+3/5125;MedGen:C1834336;OMIM:161800;Office of Rare Diseases:10111 2009-07-01 1 229568535 C A 229568535 229568535 - Haplotype 18293 RCV000019955 SCV000040253 33332 ACTA1 NM_001100.3:c.222G>T NP_001091.1:p.Glu74Asp NM_001100.3:c.222G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-07-01 OMIM OMIM Nemaline myopathy 3;NEMALINE MYOPATHY 3 19553116;20301465;22510848 germline GeneReviews:NBK1288;Genetic Alliance:Nemaline+myopathy+3/5125;MedGen:C1834336;OMIM:161800;Office of Rare Diseases:10111 2009-07-01 +1 231557255 C G 231557255 231557255 - Haplotype 156155 RCV000144173 SCV000189250 165954 EGLN1 NM_022051.2:c.380G>C NP_071334.1:p.Cys127Ser NM_022051.2:c.380G>C:missense variant Affects affects 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-09-01 OMIM OMIM Hemoglobin, high altitude adaptation;HEMOGLOBIN, HIGH ALTITUDE ADAPTATION 25129147 germline MedGen:C1836778;OMIM:609070 2014-09-01 +1 231557623 G C 231557623 231557623 - Haplotype 156155 RCV000144173 SCV000189250 227498 EGLN1 NM_022051.2:c.12C>G NP_071334.1:p.Asp4Glu NM_022051.2:c.12C>G:missense variant Affects affects 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-09-01 OMIM OMIM Hemoglobin, high altitude adaptation;HEMOGLOBIN, HIGH ALTITUDE ADAPTATION 25129147 germline MedGen:C1836778;OMIM:609070 2014-09-01 +2 45169449 G A 45169449 45169449 + Haplotype 441532 RCV000006470 SCV000026653 21137 SIX3 NM_005413.3:c.206G>A NP_005404.1:p.Gly69Asp NM_005413.3:c.206G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-12-01 OMIM OMIM Holoprosencephaly 2;HOLOPROSENCEPHALY 2 17001667;20301702 germline GeneReviews:NBK1530;Genetic Alliance:Holoprosencephaly+2/8559;MedGen:C1834877;OMIM:157170;Orphanet:2162 2006-12-01 2 47273468 A G 47273468 47273468 + Haplotype 190388 RCV000170526 SCV000223091 188215 TTC7A NM_020458.3:c.1817A>G NP_065191.2:p.Lys606Arg NM_001288953.1:c.1715A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-09-01 OMIM OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 germline MedGen:C0220744;OMIM:243150;OMIM:609332.0001;OMIM:609332.0002;OMIM:609332.0003;OMIM:609332.0004;OMIM:609332.0005;OMIM:609332.0006;OMIM:609332.0007;OMIM:609332.0008;OMIM:609332.0009;OMIM:609332.0010;OMIM:609332.0011;OMIM:609332.0012;OMIM:609332.0013;OMIM:609332.0014;OMIM:609332.0015;Office of Rare Diseases:3013;Orphanet:2300;Orphanet:436252;SNOMED CT:95472001 2013-09-01 2 47277182 T C 47277182 47277182 + Haplotype 190388 RCV000170526 SCV000223091 188216 TTC7A NM_020458.3:c.2014T>C NP_065191.2:p.Ser672Pro NM_001288953.1:c.1912T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-09-01 OMIM OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 germline MedGen:C0220744;OMIM:243150;OMIM:609332.0001;OMIM:609332.0002;OMIM:609332.0003;OMIM:609332.0004;OMIM:609332.0005;OMIM:609332.0006;OMIM:609332.0007;OMIM:609332.0008;OMIM:609332.0009;OMIM:609332.0010;OMIM:609332.0011;OMIM:609332.0012;OMIM:609332.0013;OMIM:609332.0014;OMIM:609332.0015;Office of Rare Diseases:3013;Orphanet:2300;Orphanet:436252;SNOMED CT:95472001 2013-09-01 2 74692046 C T 74692046 74692046 - Haplotype 375688 RCV000114957 SCV000148867 214379 MOGS NM_006302.2:c.329G>A NP_006293.2:p.Arg110His NM_006302.2:c.329G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-04-24 OMIM OMIM Congenital disorder of glycosylation type 2B;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb 20301507;24716661 germline Genetic Alliance:CONGENITAL+DISORDER+OF+GLYCOSYLATION%2C+TYPE+IIb/8057;MedGen:C1853736;OMIM:606056;Office of Rare Diseases:10767;Orphanet:79330 2014-04-24 @@ -92,6 +100,8 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 2 86444224 T C 86444224 86444224 - Distinct chromosomes 157528 RCV000144873 SCV000172145 167389 REEP1 NM_001164730.1:c.626A>G NP_001158202.1:p.Ter209Trp NM_001164730.1:c.626A>G:stop lost;NM_001164732.1:c.370A>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2013-11-01 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type|spasticity;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 2 128412067 G A 128412067 128412067 - Haplotype 222901 RCV000208555 SCV000264322 224616 LIMS2 NM_001161404.1:c.275C>T NP_001154876.1:p.Pro92Leu NM_001161404.1:c.275C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-12 OMIM OMIM Muscular dystrophy, limb-girdle, type 2W;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W (1 family) 25589244 germline MedGen:C4225192;OMIM:616827 2016-08-12 2 128412081 G C 128412081 128412081 - Haplotype 222901 RCV000208555 SCV000264322 224615 LIMS2 NM_001136037.2:c.342C>G NP_001154876.1:p.Asn87Lys NM_001161404.1:c.261C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-12 OMIM OMIM Muscular dystrophy, limb-girdle, type 2W;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W (1 family) 25589244 germline MedGen:C4225192;OMIM:616827 2016-08-12 +2 167129256 C A 167129256 167129256 - Haplotype 441531 RCV000023304 SCV000044595 39316 SCN9A NM_002977.3:c.2971G>T NP_002968.1:p.Val991Leu NM_002977.3:c.2971G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-01-01 OMIM OMIM Small fiber neuropathy;NEUROPATHY, SMALL FIBER 21698661 germline GeneTests:320010;Genetics Home Reference:small-fiber-neuropathy;MedGen:C3276709;OMIM:133020 2012-01-01 +2 167133540 T G 167133540 167133540 - Haplotype 441531 RCV000023304 SCV000044595 39315 SCN9A NM_002977.3:c.2794A>C NP_002968.1:p.Met932Leu NM_002977.3:c.2794A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-01-01 OMIM OMIM Small fiber neuropathy;NEUROPATHY, SMALL FIBER 21698661 germline GeneTests:320010;Genetics Home Reference:small-fiber-neuropathy;MedGen:C3276709;OMIM:133020 2012-01-01 2 179395322 AC A 179395323 179395323 - Haplotype 178839 RCV000155611 SCV000205319 172806 TTN NM_133378.4:c.98315delG NP_001254479.2:p.Gly35340Valfs NM_001267550.2:c.106019delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2013-09-27 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Autosomal recessive centronuclear myopathy 22617344;23975875;24033266 germline Genetic Alliance:Autosomal+recessive+centronuclear+myopathy/7787;Genetics Home Reference:centronuclear-myopathy;MedGen:C0410204;OMIM:255200;Orphanet:169186;Orphanet:ORPHA169186;SNOMED CT:240081004 2013-09-27 2 179434462 ATGTT A 179434463 179434466 - Haplotype 178839 RCV000155611 SCV000205319 172708 TTN NM_001267550.2:c.76393_76396delAACA NP_001254479.2:p.Asn25465Terfs NM_001267550.2:c.76393_76396delAACA:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2013-09-27 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Autosomal recessive centronuclear myopathy 22617344;23975875;24033266 germline Genetic Alliance:Autosomal+recessive+centronuclear+myopathy/7787;Genetics Home Reference:centronuclear-myopathy;MedGen:C0410204;OMIM:255200;Orphanet:169186;Orphanet:ORPHA169186;SNOMED CT:240081004 2013-09-27 2 179472292 T A 179472292 179472292 - Haplotype 179465 RCV000156254 SCV000205970 56237 TTN NM_001267550.2:c.53123A>T NP_597676.3:p.Lys8768Ile NM_001267550.2:c.53123A>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-03-04 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-04 @@ -150,9 +160,11 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 3 33060002 G A 33060002 33060002 - Haplotype 208495 RCV000190508 SCV000245394 205010 GLB1 NM_000404.3:c.1285C>T NP_000395.2:p.Pro429Ser NM_000404.3:c.1285C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2016-05-13 Mendelics Analise Genomica Mendelics Analise Genomica Mucopolysaccharidosis, MPS-IV-B 24156116 germline GeneReviews:NBK164500;Genetic Alliance:Morquio+syndrome+B/4877;MedGen:C0086652;OMIM:253010;Orphanet:582;SNOMED CT:238044004 2016-05-13 3 33065789 G T 33065789 33065789 - Haplotype 208495 RCV000190508 SCV000245394 205011 GLB1 NM_000404.3:c.1097C>A NP_000395.2:p.Pro366His NM_000404.3:c.1097C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2016-05-13 Mendelics Analise Genomica Mendelics Analise Genomica Mucopolysaccharidosis, MPS-IV-B 24156116 germline GeneReviews:NBK164500;Genetic Alliance:Morquio+syndrome+B/4877;MedGen:C0086652;OMIM:253010;Orphanet:582;SNOMED CT:238044004 2016-05-13 3 38593004 G A 38593004 38593004 - Haplotype 440848 RCV000009965 SCV000030186 38446 SCN5A NM_198056.2:c.4859C>T NP_932173.1:p.Thr1620Met NM_000335.4:c.4856C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-04 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10618304;19251209;20129283;20301690;21321465;21810866;23788249;25356965;27854360;9521325 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2000-01-04 +3 38603947 G A 38603947 38603947 - Haplotype 440850 RCV000010010 SCV000030231 38448 SCN5A NM_198056.2:c.3922C>T NP_932173.1:p.Leu1308Phe NM_000335.4:c.3919C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-08-15 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10532948;15851227;18599870;19841300;20129283;20301690;21810866;23788249;25356965;27854360 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2008-08-15 3 38608046 G A 38608046 38608046 - Haplotype 440848 RCV000009965 SCV000030186 24410 SCN5A NM_198056.2:c.3694C>T NP_932173.1:p.Arg1232Trp NM_000335.4:c.3691C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-04 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10618304;19251209;20129283;20301690;21321465;21810866;23788249;25356965;27854360;9521325 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2000-01-04 3 38645420 T C 38645420 38645420 - Haplotype 440849 RCV000010000 SCV000030221 38447 SCN5A NM_198056.2:c.1673A>G NP_932173.1:p.His558Arg NM_000335.4:c.1673A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-04-15 OMIM OMIM Progressive familial heart block type 1A;PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA 10807545;11463728;11997281;12569159;12639704;14760;18378609;23788249;23994779;27854360 germline Genetic Alliance:Progressive+familial+heart+block+type+1A/5978;Genetics Home Reference:progressive-familial-heart-block;MedGen:C1879286;OMIM:113900;OMIM:600163.0009;OMIM:600163.0017;OMIM:600163.0018;OMIM:600163.0031;Office of Rare Diseases:1093;Orphanet:871 2008-04-15 3 38645558 G A 38645558 38645558 - Haplotype 440849 RCV000010000 SCV000030221 24437 SCN5A NM_198056.2:c.1535C>T NP_932173.1:p.Thr512Ile NM_198056.2:c.1535C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-04-15 OMIM OMIM Progressive familial heart block type 1A;PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA 10807545;11463728;11997281;12569159;12639704;14760;18378609;23788249;23994779;27854360 germline Genetic Alliance:Progressive+familial+heart+block+type+1A/5978;Genetics Home Reference:progressive-familial-heart-block;MedGen:C1879286;OMIM:113900;OMIM:600163.0009;OMIM:600163.0017;OMIM:600163.0018;OMIM:600163.0031;Office of Rare Diseases:1093;Orphanet:871 2008-04-15 +3 38655243 C T 38655243 38655243 - Haplotype 440850 RCV000010010 SCV000030231 24446 SCN5A NM_001099404.1:c.703+223G>A NP_932173.1:p.Val232Ile NM_000335.4:c.694G>A:missense variant;NM_001099404.1:c.703+223G>A:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-08-15 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10532948;15851227;18599870;19841300;20129283;20301690;21810866;23788249;25356965;27854360 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2008-08-15 3 39307162 G A 39307162 39307162 - Haplotype 8152 RCV000008629 SCV000028837 36774 CX3CR1 NM_001171174.1:c.935C>T NP_001164645.1:p.Thr312Met NM_001171174.1:c.935C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-09-05 OMIM OMIM Human immunodeficiency virus type 1, rapid progression to AIDS;HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS 10731151;11264153;12697743;15208270;17909628;23716478 germline MedGen:C4016733 2014-09-05 3 39307162 G A 39307162 39307162 - Haplotype 8152 RCV000008630 SCV000028838 36774 CX3CR1 NM_001171174.1:c.935C>T NP_001164645.1:p.Thr312Met NM_001171174.1:c.935C>T:missense variant protective protective 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-05-18 OMIM OMIM Coronary artery disease, resistance to 10731151;11264153;12697743;15208270;17909628;23716478 germline MedGen:C1832288 2015-05-18 3 39307162 G A 39307162 39307162 - Haplotype 8152 RCV000023109 SCV000044400 36774 CX3CR1 NM_001171174.1:c.935C>T NP_001164645.1:p.Thr312Met NM_001171174.1:c.935C>T:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-12-01 OMIM OMIM MACULAR DEGENERATION, AGE-RELATED, 12, SUSCEPTIBILITY TO 10731151;11264153;12697743;15208270;17909628;23716478 germline OMIM:601470.0001 2013-12-01 @@ -163,15 +175,24 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 3 42733469 G A 42733469 42733469 + Haplotype 228777 RCV000213109 SCV000271889 229064 KLHL40 NM_152393.3:c.1850G>A NP_689606.2:p.Cys617Tyr NM_152393.3:c.1850G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-18 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-18 3 49160612 G A 49160612 49160612 - Haplotype 14535 RCV000015634 SCV000035899 38466 LAMB2 NM_002292.3:c.4177C>T NP_002283.3:p.Leu1393Phe NM_002292.3:c.4177C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-09-01 OMIM OMIM Nephrotic syndrome, type 5, with or without ocular abnormalities;NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES 16912710 germline Genetic Alliance:Nephrotic+syndrome%2C+type+5%2C+with+or+without+ocular+abnormalities/8989;MedGen:C3280113;OMIM:150325.0006;OMIM:150325.0007;OMIM:150325.0008;OMIM:150325.0009;OMIM:150325.0010;OMIM:150325.0011;OMIM:614199;Orphanet:306507 2006-09-01 3 49160649 G T 49160649 49160649 - Haplotype 14535 RCV000015634 SCV000035899 29574 LAMB2 NM_002292.3:c.4140C>A NP_002283.3:p.Asn1380Lys NM_002292.3:c.4140C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-09-01 OMIM OMIM Nephrotic syndrome, type 5, with or without ocular abnormalities;NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES 16912710 germline Genetic Alliance:Nephrotic+syndrome%2C+type+5%2C+with+or+without+ocular+abnormalities/8989;MedGen:C3280113;OMIM:150325.0006;OMIM:150325.0007;OMIM:150325.0008;OMIM:150325.0009;OMIM:150325.0010;OMIM:150325.0011;OMIM:614199;Orphanet:306507 2006-09-01 +3 52820981 A T 52820981 52820981 + Haplotype 14798 RCV000015921 SCV000036188 29837 ITIH1 NM_002215.3:c.1754A>T NP_002206.2:p.Glu585Val NM_002215.3:c.1754A>T:missense variant Benign benign 0 0 0 0 1 no assertion criteria provided no assertion criteria provided 1995-04-01 OMIM OMIM INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM;INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM 7535743 germline OMIM:147270.0001;OMIM:147270.0002;OMIM:147270.0003 1995-04-01 +3 52821011 A G 52821011 52821011 + Haplotype 14798 RCV000015921 SCV000036188 29838 ITIH1 NM_002215.3:c.1784A>G NP_002206.2:p.Gln595Arg NM_002215.3:c.1784A>G:missense variant Benign benign 0 0 0 0 1 no assertion criteria provided no assertion criteria provided 1995-04-01 OMIM OMIM INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM;INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM 7535743 germline OMIM:147270.0001;OMIM:147270.0002;OMIM:147270.0003 1995-04-01 +3 52821011 A G 52821011 52821011 + Haplotype 14799 RCV000015922 SCV000036189 29838 ITIH1 NM_002215.3:c.1784A>G NP_002206.2:p.Gln595Arg NM_002215.3:c.1784A>G:missense variant Benign benign 0 0 0 0 1 no assertion criteria provided no assertion criteria provided 1995-04-01 OMIM OMIM INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM;INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM 7535743 germline OMIM:147270.0001;OMIM:147270.0002;OMIM:147270.0003 1995-04-01 3 64142981 C T 64142981 64142981 - Haplotype 30731 RCV000023709 SCV000045000 39689 PRICKLE2 NM_198859.3:c.457G>A NP_942559.1:p.Val153Ile NM_198859.3:c.457G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2011-02-11 OMIM OMIM Epilepsy, progressive myoclonic 5;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 21276947;26942291;26942292;632821 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+5/8335;MedGen:CN226157;OMIM:613832;Orphanet:402082 2011-02-11 3 64142995 C T 64142995 64142995 - Haplotype 30731 RCV000023709 SCV000045000 39688 PRICKLE2 NM_198859.3:c.443G>A NP_942559.1:p.Arg148His NM_198859.3:c.443G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2011-02-11 OMIM OMIM Epilepsy, progressive myoclonic 5;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 21276947;26942291;26942292;632821 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+5/8335;MedGen:CN226157;OMIM:613832;Orphanet:402082 2011-02-11 3 114057857 C T 114057857 114057857 - Haplotype 253111 RCV000239523 SCV000297909 247522 ZBTB20 NM_001164342.2:c.2221G>A NP_001157814.1:p.Gly741Arg NM_001164342.2:c.2221G>A:missense variant;NR_121662.1:n.883G>A:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Primrose syndrome;PRIMROSE SYNDROME 27061120 germline Genetic Alliance:Primrose+syndrome/5964;MedGen:C0796121;OMIM:259050;Office of Rare Diseases:4488 2016-08-08 3 114058231 G A 114058231 114058231 - Haplotype 253111 RCV000239523 SCV000297909 247523 ZBTB20 NM_001164342.2:c.1847C>T NP_001157814.1:p.Ser616Phe NM_001164342.2:c.1847C>T:missense variant;NR_121662.1:n.509C>T:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Primrose syndrome;PRIMROSE SYNDROME 27061120 germline Genetic Alliance:Primrose+syndrome/5964;MedGen:C0796121;OMIM:259050;Office of Rare Diseases:4488 2016-08-08 3 124454069 A G 124454069 124454069 + Haplotype 11906 RCV000012681 SCV000032916 26945 UMPS NM_000373.3:c.286A>G NP_000364.1:p.Arg96Gly NM_000373.3:c.286A>G:missense variant;NR_033434.1:n.263-2346A>G:intron variant;NR_033437.1:n.491A>G:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-03-01 OMIM OMIM Orotic aciduria;OROTIC ACIDURIA 9042911 germline Genetic Alliance:Orotic+aciduria+hereditary/5431;MedGen:C0268128;OMIM:258900;OMIM:258920;Orphanet:30;SNOMED CT:47641009;SNOMED CT:90093009 1997-03-01 3 124462773 G C 124462773 124462773 + Haplotype 11906 RCV000012681 SCV000032916 38455 UMPS NM_000373.3:c.1285G>C NP_000364.1:p.Gly429Arg NM_000373.3:c.1285G>C:missense variant;NR_033434.1:n.1237G>C:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-03-01 OMIM OMIM Orotic aciduria;OROTIC ACIDURIA 9042911 germline Genetic Alliance:Orotic+aciduria+hereditary/5431;MedGen:C0268128;OMIM:258900;OMIM:258920;Orphanet:30;SNOMED CT:47641009;SNOMED CT:90093009 1997-03-01 +3 178936092 A C 178936092 178936092 + Haplotype 222469 RCV000144511 SCV000189830 28698 PIK3CA NM_006218.3:c.1634A>C NP_006209.2:p.Glu545Ala NM_006218.3:c.1634A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-01-10 OMIM OMIM Cowden syndrome 5;COWDEN SYNDROME 5 23246288 germline MedGen:C3554518;OMIM:615108;Orphanet:201 2013-01-10 +3 178936116 GT C 178936116 178936117 + Haplotype 222469 RCV000144511 SCV000189830 166223 PIK3CA NM_006218.3:c.1658_1659delGTinsC NP_006209.2:p.Ser553Thrfs NM_006218.3:c.1658_1659delGTinsC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-01-10 OMIM OMIM Cowden syndrome 5;COWDEN SYNDROME 5 23246288 germline MedGen:C3554518;OMIM:615108;Orphanet:201 2013-01-10 3 193355102 T C 193355102 193355102 + Haplotype 5089 RCV000005394 SCV000025574 101627 OPA1 NM_015560.2:c.870+32T>C NM_015560.2:c.870+32T>C:intron variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-02-01 OMIM OMIM Glaucoma, normal tension, susceptibility to;GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO 11810296;12073024;17188046;19581274 germline Genetic Alliance:Glaucoma%2C+normal+tension%2C+susceptibility+to/8467;MedGen:C1847730;OMIM:606657 2010-02-01 4 996555 G C 996555 996555 + Haplotype 11911 RCV000012686 SCV000032921 26950 IDUA NM_000203.4:c.1225G>C NP_000194.2:p.Gly409Arg NM_000203.4:c.1225G>C:missense variant;NR_110313.1:n.1313G>C:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-08-01 OMIM OMIM Hurler syndrome;HURLER SYNDROME 20301341;8328452 germline GeneReviews:NBK1162;Genetic Alliance:Mucopolysaccharidosis+type+I/4912;MedGen:C0086795;OMIM:607014 1993-08-01 4 998181 A T 998181 998181 + Haplotype 11911 RCV000012686 SCV000032921 38456 IDUA NM_000203.4:c.1962A>T NP_000194.2:p.Ter654Cys NM_000203.4:c.1962A>T:stop lost;NR_110313.1:n.2054A>T:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-08-01 OMIM OMIM Hurler syndrome;HURLER SYNDROME 20301341;8328452 germline GeneReviews:NBK1162;Genetic Alliance:Mucopolysaccharidosis+type+I/4912;MedGen:C0086795;OMIM:607014 1993-08-01 +4 1806111 T G 1806111 1806111 + Haplotype 441276 RCV000017763 SCV000038041 38477 FGFR3 NM_022965.3:c.931-440T>G NP_001156685.1:p.Leu379Arg NM_000142.4:c.1130T>G:missense variant;NM_022965.3:c.931-440T>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-02-01 OMIM OMIM Achondroplasia;ACHONDROPLASIA 16411219;20301331 gain of function germline GeneReviews:NBK1152;GeneTests:2789;Genetic Alliance:Achondroplasia/113;Genetic Testing Registry (GTR):GTR000017792;Genetic Testing Registry (GTR):GTR000193973;Genetic Testing Registry (GTR):GTR000226127;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000325183;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000332463;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000500431;Genetic Testing Registry (GTR):GTR000501373;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508972;Genetic Testing Registry (GTR):GTR000510685;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000523319;Genetic Testing Registry (GTR):GTR000529586;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000552209;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;Genetic Testing Registry (GTR):GTR000556521;MedGen:C0001080;OMIM:100800;Office of Rare Diseases:8173;Orphanet:15;SNOMED CT:86268005 2006-02-01 +4 1806119 G A 1806119 1806119 + Haplotype 441276 RCV000017763 SCV000038041 31366 FGFR3 NM_022965.3:c.931-432G>A NP_001156685.1:p.Gly382Arg NM_000142.4:c.1138G>A:missense variant;NM_022965.3:c.931-432G>A:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-02-01 OMIM OMIM Achondroplasia;ACHONDROPLASIA 16411219;20301331 gain of function germline GeneReviews:NBK1152;GeneTests:2789;Genetic Alliance:Achondroplasia/113;Genetic Testing Registry (GTR):GTR000017792;Genetic Testing Registry (GTR):GTR000193973;Genetic Testing Registry (GTR):GTR000226127;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000325183;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000332463;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000500431;Genetic Testing Registry (GTR):GTR000501373;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508972;Genetic Testing Registry (GTR):GTR000510685;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000523319;Genetic Testing Registry (GTR):GTR000529586;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000552209;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;Genetic Testing Registry (GTR):GTR000556521;MedGen:C0001080;OMIM:100800;Office of Rare Diseases:8173;Orphanet:15;SNOMED CT:86268005 2006-02-01 +4 1807123 A G 1807123 1807123 + Haplotype 441277 RCV000017771 SCV000038050 38478 FGFR3 NM_001163213.1:c.1460A>G NP_001156685.1:p.Gln487Arg NM_000142.4:c.1454A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-06-01 OMIM OMIM Thanatophoric dysplasia type 1;THANATOPHORIC DYSPLASIA, TYPE I 19449430;20301540 gain of function germline GeneReviews:NBK1366;Genetic Alliance:Thanatophoric+dysplasia+type+1/7051;Genetic Testing Registry (GTR):GTR000226129;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000327813;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508990;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000530324;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;MedGen:C1868678;OMIM:187600;Office of Rare Diseases:9295;Orphanet:1860;Orphanet:2655 2009-06-01 +4 1807371 C A 1807371 1807371 + Haplotype 441277 RCV000017771 SCV000038050 31376 FGFR3 NM_001163213.1:c.1626C>A NP_001156685.1:p.Asn542Lys NM_000142.4:c.1620C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-06-01 OMIM OMIM Thanatophoric dysplasia type 1;THANATOPHORIC DYSPLASIA, TYPE I 19449430;20301540 gain of function germline GeneReviews:NBK1366;Genetic Alliance:Thanatophoric+dysplasia+type+1/7051;Genetic Testing Registry (GTR):GTR000226129;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000327813;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508990;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000530324;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;MedGen:C1868678;OMIM:187600;Office of Rare Diseases:9295;Orphanet:1860;Orphanet:2655 2009-06-01 4 70898903 G A 70898903 70898903 + Haplotype 14913 RCV000016048 SCV000036315 38467 HTN3 NM_000200.2:c.122G>A NP_000191.1:p.Arg41Gln NM_000200.2:c.122G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1994-01-01 OMIM OMIM HIS2*1/HIS2*2 POLYMORPHISM;HIS2*1/HIS2*2 POLYMORPHISM 7951254 germline OMIM:142702.0001 1994-01-01 4 70898922 T A 70898922 70898922 + Haplotype 14913 RCV000016048 SCV000036315 29952 HTN3 NM_000200.2:c.141T>A NP_000191.1:p.Tyr47Ter NM_000200.2:c.141T>A:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1994-01-01 OMIM OMIM HIS2*1/HIS2*2 POLYMORPHISM;HIS2*1/HIS2*2 POLYMORPHISM 7951254 germline OMIM:142702.0001 1994-01-01 4 103189073 C G 103189073 103189073 - Haplotype 218898 RCV000203237 SCV000258313 215658 SLC39A8 NM_022154.5:c.1004G>C NP_071437.3:p.Ser335Thr NM_022154.5:c.1004G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-12-03 OMIM OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn 26637979 germline MedGen:C4225234;OMIM:608732.0001;OMIM:608732.0002;OMIM:608732.0003;OMIM:608732.0004;OMIM:616721 2015-12-03 @@ -184,16 +205,17 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 5 1272311 C T 1272311 1272311 - Haplotype 36946 RCV000030627 SCV000053305 45603 TERT NM_198253.2:c.2371G>A NP_937983.2:p.Val791Ile NM_198253.2:c.2371G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-03-01 OMIM OMIM Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;PULMONARY FIBROSIS, TELOMERE-RELATED, 1 21483807 germline MedGen:C3553617;OMIM:187270.0001;OMIM:187270.0002;OMIM:187270.0003;OMIM:187270.0004;OMIM:187270.0005;OMIM:187270.0008;OMIM:187270.0009;OMIM:187270.0010;OMIM:187270.0015;OMIM:187270.0016;OMIM:187270.0017;OMIM:614742;Orphanet:88 2011-03-01 5 41853537 A T 41853537 41853537 - Haplotype 8165 RCV000008643 SCV000028852 38389 OXCT1 NM_000436.3:c.398T>A NP_000427.1:p.Val133Glu NM_000436.3:c.398T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-01-01 OMIM OMIM Succinyl-CoA acetoacetate transferase deficiency;SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY 9671268 germline Genetic Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918;MedGen:C0342792;OMIM:245050;Office of Rare Diseases:5057;Orphanet:832;SNOMED CT:238004006 1998-01-01 5 41862758 G A 41862758 41862758 - Haplotype 8165 RCV000008643 SCV000028852 23204 OXCT1 NM_000436.3:c.173C>T NP_000427.1:p.Thr58Met NM_000436.3:c.173C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-01-01 OMIM OMIM Succinyl-CoA acetoacetate transferase deficiency;SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY 9671268 germline Genetic Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918;MedGen:C0342792;OMIM:245050;Office of Rare Diseases:5057;Orphanet:832;SNOMED CT:238004006 1998-01-01 -5 112043220 A C 112043220 112043220 + Haplotype 243004 RCV000234986 SCV000292335 244097 APC NM_001127511.2:c.-195A>C NM_001127511.2:c.-195A>C:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-12 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 -5 112043289 GA G 112043290 112043290 + Haplotype 243004 RCV000234986 SCV000292335 244084 APC NM_001127511.2:c.-125delA NM_001127511.2:c.-125delA:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-12 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 +5 112043220 A C 112043220 112043220 + Haplotype 243004 RCV000234986 SCV000292335 244097 APC NM_001127511.2:c.-195A>C NM_001127511.2:c.-195A>C:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-12 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;Genetic Testing Registry (GTR):GTR000558907;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 +5 112043289 GA G 112043290 112043290 + Haplotype 243004 RCV000234986 SCV000292335 244084 APC NM_001127511.2:c.-125delA NM_001127511.2:c.-125delA:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-12 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;Genetic Testing Registry (GTR):GTR000558907;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 5 135392443 C A 135392443 135392443 + Haplotype 7874 RCV000008323 SCV000028531 22913 TGFBI NM_000358.2:c.1637C>A NP_000349.1:p.Ala546Asp NM_000358.2:c.1637C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-11-01 OMIM OMIM Lattice corneal dystrophy Type I;CORNEAL DYSTROPHY, LATTICE TYPE I 15111592;15531312 germline Genetic Alliance:Lattice+corneal+dystrophy+type+1/4117;Genetics Home Reference:lattice-corneal-dystrophy-type-i;MedGen:C1690006;OMIM:122200;Office of Rare Diseases:9678;Orphanet:98964;SNOMED CT:419197009 2004-11-01 5 135392458 C A 135392458 135392458 + Haplotype 7874 RCV000008323 SCV000028531 38388 TGFBI NM_000358.2:c.1652C>A NP_000349.1:p.Pro551Gln NM_000358.2:c.1652C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-11-01 OMIM OMIM Lattice corneal dystrophy Type I;CORNEAL DYSTROPHY, LATTICE TYPE I 15111592;15531312 germline Genetic Alliance:Lattice+corneal+dystrophy+type+1/4117;Genetics Home Reference:lattice-corneal-dystrophy-type-i;MedGen:C1690006;OMIM:122200;Office of Rare Diseases:9678;Orphanet:98964;SNOMED CT:419197009 2004-11-01 +5 171777409 GC G 171777410 171777410 - Distinct chromosomes 488055 RCV000577875 SCV000583573 15228 SH3PXD2B NM_001017995.2:c.969delG NP_001017995.1:p.Arg324Glyfs NM_001017995.2:c.969delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Frank Ter Haar syndrome;Opsismodysplasia 1;20137777;29276006 unknown Genetic Alliance:Frank+Ter+Haar+Syndrome/2915;Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;MedGen:C1855305;OMIM:249420;OMIM:258480;Office of Rare Diseases:4098;Office of Rare Diseases:5138;Orphanet:137834;Orphanet:2746;SNOMED CT:254068007 2017-06-01 5 176942003 G T 176942003 176942003 - Haplotype 403734 RCV000465916 SCV000541081 390711 DDX41 NM_016222.3:c.712C>A NP_057306.2:p.Pro238Thr NM_016222.3:c.712C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Acute myeloid leukemia;Myelodysplasia 20963938;22138009;23970018;26944477 germline GeneReviews:NBK47457;Genetic Testing Registry (GTR):GTR000500636;Human Phenotype Ontology:HP:0002863;Human Phenotype Ontology:HP:0004832;Human Phenotype Ontology:HP:0006730;MeSH:D015470;MedGen:C0023467;MedGen:C1851971;OMIM:601626;Orphanet:519;SNOMED CT:17788007 0000-00-00 5 176942004 C A 176942004 176942004 - Haplotype 403734 RCV000465916 SCV000541081 390712 DDX41 NM_016222.3:c.711G>T NP_057306.2:p.Leu237Phe NM_016222.3:c.711G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Acute myeloid leukemia;Myelodysplasia 20963938;22138009;23970018;26944477 germline GeneReviews:NBK47457;Genetic Testing Registry (GTR):GTR000500636;Human Phenotype Ontology:HP:0002863;Human Phenotype Ontology:HP:0004832;Human Phenotype Ontology:HP:0006730;MeSH:D015470;MedGen:C0023467;MedGen:C1851971;OMIM:601626;Orphanet:519;SNOMED CT:17788007 0000-00-00 6 10874613 A T 10874613 10874613 - Haplotype 375590 RCV000417072 SCV000494617 362401 GCM2 NM_004752.3:c.1136T>A NP_004743.1:p.Leu379Gln NM_004752.3:c.1136T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-10 OMIM OMIM Hyperparathyroidism 4;HYPERPARATHYROIDISM 4 27745835 germline MedGen:CN240514;OMIM:617343 2017-02-10 6 10874998 G C 10874998 10874998 - Haplotype 375590 RCV000417072 SCV000494617 362400 GCM2 NM_004752.3:c.751C>G NP_004743.1:p.Gln251Glu NM_004752.3:c.751C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-10 OMIM OMIM Hyperparathyroidism 4;HYPERPARATHYROIDISM 4 27745835 germline MedGen:CN240514;OMIM:617343 2017-02-10 -6 18130918 T C 18130918 18130918 - Haplotype 12722 RCV000013559 SCV000033806 27764 TPMT NM_000367.4:c.719A>G NP_000358.1:p.Tyr240Cys NM_000367.4:c.719A>G:missense variant drug response drug response 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-06-28 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 -6 18139228 C T 18139228 18139228 - Haplotype 12722 RCV000013559 SCV000033806 27761 TPMT NM_000367.4:c.460G>A NP_000358.1:p.Ala154Thr NM_000367.4:c.460G>A:missense variant drug response drug response 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-06-28 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 +6 18130918 T C 18130918 18130918 - Haplotype 12722 RCV000013559 SCV000033806 27764 TPMT NM_000367.4:c.719A>G NP_000358.1:p.Tyr240Cys NM_000367.4:c.719A>G:missense variant drug response drug response 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-06-28 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;Genetic Testing Registry (GTR):GTR000558523;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 +6 18139228 C T 18139228 18139228 - Haplotype 12722 RCV000013559 SCV000033806 27761 TPMT NM_000367.4:c.460G>A NP_000358.1:p.Ala154Thr NM_000367.4:c.460G>A:missense variant drug response drug response 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-06-28 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;Genetic Testing Registry (GTR):GTR000558523;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 6 32007584 T A 32007584 32007584 + Haplotype 31662 RCV000012947 SCV000033191 33507 CYP21A2 NM_000500.7:c.710T>A NP_000491.4:p.Ile237Asn NM_000500.7:c.710T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-04-01 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE 15623806;20301350;2249999;2845408 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2005-04-01 6 32007587 T A 32007587 32007587 + Haplotype 31662 RCV000012947 SCV000033191 27212 CYP21A2 NM_000500.7:c.713T>A NP_000491.4:p.Val238Glu NM_000500.7:c.713T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-04-01 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE 15623806;20301350;2249999;2845408 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2005-04-01 6 32007587 T A 32007587 32007587 + Haplotype 65613 RCV000055823 SCV000086807 27212 CYP21A2 NM_000500.7:c.713T>A NP_000491.4:p.Val238Glu NM_000500.7:c.713T>A:missense variant Pathogenic pathologic 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-08-29 GeneReviews GeneReviews 21-hydroxylase deficiency;21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 20301350 not provided GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2013-08-29 @@ -211,19 +233,19 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 6 52317574 G A 52317574 52317574 + Haplotype 2067 RCV000002148 SCV000022306 38421 EFHC1 NM_018100.3:c.662G>A NP_060570.2:p.Arg221His NM_018100.3:c.662G>A:missense variant;NR_033327.1:n.877G>A:non-coding transcript variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-08-01 OMIM OMIM Myoclonic epilepsy, juvenile 1;MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1 12439895;15258581 germline 2004-08-01 6 129601216 A C 129601216 129601216 + Haplotype 190218 RCV000170437 SCV000222875 188050 LAMA2 NM_000426.3:c.2461A>C NP_000417.2:p.Thr821Pro NM_000426.3:c.2461A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-04-08 Mendelics Analise Genomica Mendelics Analise Genomica Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468;21078917;22420014;22675738 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 2015-04-08 6 129823841 T C 129823841 129823841 + Haplotype 190218 RCV000170437 SCV000222875 188051 LAMA2 NM_000426.3:c.8282T>C NP_000417.2:p.Ile2761Thr NM_000426.3:c.8282T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-04-08 Mendelics Analise Genomica Mendelics Analise Genomica Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468;21078917;22420014;22675738 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 2015-04-08 -6 146720826 GGAA G 146720827 146720829 + Haplotype 37204 RCV000030784 SCV000053445 45814 GRM1 NM_001278064.1:c.2652_2654delGAA NP_001264993.1:p.Asn885del Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-09-07 OMIM OMIM Spinocerebellar ataxia, autosomal recessive 13;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 22901947 germline MedGen:C3553816;OMIM:614831;Orphanet:324262 2012-09-07 -6 146720837 T C 146720837 146720837 + Haplotype 37204 RCV000030784 SCV000053445 434131 GRM1 NM_001278064.1:c.2660+2T>C NM_001278064.1:c.2660+2T>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-09-07 OMIM OMIM Spinocerebellar ataxia, autosomal recessive 13;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 22901947 germline MedGen:C3553816;OMIM:614831;Orphanet:324262 2012-09-07 +6 146720826 GGAA G 146720827 146720829 + Haplotype 453266 RCV000030784 SCV000053445 45814 GRM1 NM_001278064.1:c.2652_2654delGAA NP_001264993.1:p.Asn885del Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-09-07 OMIM OMIM Spinocerebellar ataxia, autosomal recessive 13;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 22901947 germline MedGen:C3553816;OMIM:614831;Orphanet:324262 2012-09-07 +6 146720837 T C 146720837 146720837 + Haplotype 453266 RCV000030784 SCV000053445 434131 GRM1 NM_001278064.1:c.2660+2T>C NM_001278064.1:c.2660+2T>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-09-07 OMIM OMIM Spinocerebellar ataxia, autosomal recessive 13;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 22901947 germline MedGen:C3553816;OMIM:614831;Orphanet:324262 2012-09-07 6 152697578 C T 152697578 152697578 - Haplotype 92124 RCV000077790 SCV000109616 97550 SYNE1 NM_033071.3:c.9283G>A NP_149062.1:p.Ala3095Thr NM_182961.3:c.9262G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2013-12-01 OMIM OMIM Intellectual functioning disability;VARIANT OF UNKNOWN SIGNIFICANCE 21956720;24123876 germline MedGen:C0025362;SNOMED CT:228156007;SNOMED CT:91138005 2013-12-01 6 152784621 T C 152784621 152784621 - Haplotype 92124 RCV000077790 SCV000109616 97551 SYNE1 NM_033071.3:c.1985A>G NP_149062.1:p.Gln662Arg NM_182961.3:c.1964A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2013-12-01 OMIM OMIM Intellectual functioning disability;VARIANT OF UNKNOWN SIGNIFICANCE 21956720;24123876 germline MedGen:C0025362;SNOMED CT:228156007;SNOMED CT:91138005 2013-12-01 7 87072999 G C 87072999 87072999 - Haplotype 217883 RCV000201938 SCV000256879 214536 ABCB4 NM_018849.2:c.1210C>G NP_061337.1:p.Pro404Ala NM_018849.2:c.1210C>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2014-07-25 Mendelics Analise Genomica Mendelics Analise Genomica Progressive familial intrahepatic cholestasis 3 17726488;9419367 germline Genetic Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351;Genetics Home Reference:progressive-familial-intrahepatic-cholestasis;MedGen:C1865643;OMIM:602347;Office of Rare Diseases:1289;Orphanet:79305 2014-07-25 7 87082365 C T 87082365 87082365 - Haplotype 217883 RCV000201938 SCV000256879 214537 ABCB4 NM_018849.2:c.431G>A NP_061337.1:p.Arg144Gln NM_018849.2:c.431G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2014-07-25 Mendelics Analise Genomica Mendelics Analise Genomica Progressive familial intrahepatic cholestasis 3 17726488;9419367 germline Genetic Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351;Genetics Home Reference:progressive-familial-intrahepatic-cholestasis;MedGen:C1865643;OMIM:602347;Office of Rare Diseases:1289;Orphanet:79305 2014-07-25 7 107336408 A C 107336408 107336408 + Haplotype 4816 RCV000005085 SCV000025261 38434 SLC26A4 NM_000441.1:c.1468A>C NP_000432.1:p.Ile490Leu NM_000441.1:c.1468A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-07-01 OMIM OMIM Enlarged vestibular aqueduct syndrome;DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 18310264;20301607;20301640;9500541 germline GeneReviews:NBK1467;Genetic Alliance:Enlarged+Vestibular+Aqueduct+Syndrome/2542;Genetic Testing Registry (GTR):GTR000500213;MedGen:C1863752;OMIM:600791;OMIM:601093.0001;OMIM:601093.0002;OMIM:602208.0008;OMIM:602208.0009;OMIM:605646.0004;OMIM:605646.0009;OMIM:605646.0010;OMIM:605646.0011;OMIM:605646.0012;OMIM:605646.0013;OMIM:605646.0014;OMIM:605646.0015;OMIM:605646.0027;OMIM:605646.0028;OMIM:605646.0029;OMIM:605646.0030;OMIM:605646.0031;Office of Rare Diseases:8651;Orphanet:90636 2008-07-01 7 107336429 G A 107336429 107336429 + Haplotype 4816 RCV000005085 SCV000025261 19855 SLC26A4 NM_000441.1:c.1489G>A NP_000432.1:p.Gly497Ser NM_000441.1:c.1489G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-07-01 OMIM OMIM Enlarged vestibular aqueduct syndrome;DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 18310264;20301607;20301640;9500541 germline GeneReviews:NBK1467;Genetic Alliance:Enlarged+Vestibular+Aqueduct+Syndrome/2542;Genetic Testing Registry (GTR):GTR000500213;MedGen:C1863752;OMIM:600791;OMIM:601093.0001;OMIM:601093.0002;OMIM:602208.0008;OMIM:602208.0009;OMIM:605646.0004;OMIM:605646.0009;OMIM:605646.0010;OMIM:605646.0011;OMIM:605646.0012;OMIM:605646.0013;OMIM:605646.0014;OMIM:605646.0015;OMIM:605646.0027;OMIM:605646.0028;OMIM:605646.0029;OMIM:605646.0030;OMIM:605646.0031;Office of Rare Diseases:8651;Orphanet:90636 2008-07-01 -7 117171029 G A 117171029 117171029 + Haplotype 209047 RCV000190992 SCV000245925 22148 CFTR NM_000492.3:c.350G>A NP_000483.3:p.Arg117His NM_000492.3:c.350G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 reviewed by expert panel reviewed by expert panel 0000-00-00 CFTR2 CFTR2 Cystic fibrosis;Cystic fibrosis 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;23974870;24014130;25431289;25981758 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 0000-00-00 -7 117180359 C A 117180359 117180359 + Haplotype 40200 RCV000007589 SCV000027790 22208 CFTR NM_000492.3:c.1075C>A NP_000483.3:p.Gln359Lys NM_000492.3:c.1075C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-01-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 -7 117180363 C A 117180363 117180363 + Haplotype 40200 RCV000007589 SCV000027790 38441 CFTR NM_000492.3:c.1079C>A NP_000483.3:p.Thr360Lys NM_000492.3:c.1079C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-01-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 -7 117243663 C T 117243663 117243663 + Haplotype 7239 RCV000007661 SCV000027862 22244 CFTR NM_000492.3:c.2735C>T NP_000483.3:p.Ser912Leu NM_000492.3:c.2735C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-05-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 -7 117282505 G T 117282505 117282505 + Haplotype 7239 RCV000007661 SCV000027862 22278 CFTR NM_000492.3:c.3731G>T NP_000483.3:p.Gly1244Val NM_000492.3:c.3731G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-05-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 +7 117171029 G A 117171029 117171029 + Haplotype 209047 RCV000190992 SCV000245925 22148 CFTR NM_000492.3:c.350G>A NP_000483.3:p.Arg117His NM_000492.3:c.350G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 reviewed by expert panel reviewed by expert panel 0000-00-00 CFTR2 CFTR2 Cystic fibrosis;Cystic fibrosis 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;23974870;24014130;25431289;25981758 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 0000-00-00 +7 117180359 C A 117180359 117180359 + Haplotype 40200 RCV000007589 SCV000027790 22208 CFTR NM_000492.3:c.1075C>A NP_000483.3:p.Gln359Lys NM_000492.3:c.1075C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-01-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 +7 117180363 C A 117180363 117180363 + Haplotype 40200 RCV000007589 SCV000027790 38441 CFTR NM_000492.3:c.1079C>A NP_000483.3:p.Thr360Lys NM_000492.3:c.1079C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-01-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 +7 117243663 C T 117243663 117243663 + Haplotype 7239 RCV000007661 SCV000027862 22244 CFTR NM_000492.3:c.2735C>T NP_000483.3:p.Ser912Leu NM_000492.3:c.2735C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-05-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 +7 117282505 G T 117282505 117282505 + Haplotype 7239 RCV000007661 SCV000027862 22278 CFTR NM_000492.3:c.3731G>T NP_000483.3:p.Gly1244Val NM_000492.3:c.3731G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-05-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 8 1719428 C T 1719428 1719428 + Haplotype 217887 RCV000201947 SCV000256883 214538 CLN8 NM_018941.3:c.208C>T NP_061764.2:p.Arg70Cys NM_018941.3:c.208C>T:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2014-08-18 Mendelics Analise Genomica Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 8 16570191;20301601 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 2014-08-18 8 1728664 C G 1728664 1728664 + Haplotype 217887 RCV000201947 SCV000256883 106601 CLN8 NM_018941.3:c.792C>G NP_061764.2:p.Asn264Lys NM_018941.3:c.792C>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2014-08-18 Mendelics Analise Genomica Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 8 16570191;20301601 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 2014-08-18 8 30922450 A T 30922450 30922450 + Haplotype 5453 RCV000005786 SCV000025968 20492 WRN NM_000553.5:c.375A>T NP_000544.2:p.Lys125Asn NM_000553.5:c.375A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-06-01 OMIM OMIM Werner syndrome;WERNER SYNDROME 16673358;20301687;22258520 germline GeneReviews:NBK1514;Genetic Alliance:Werner%27s+syndrome/7471;Genetics Home Reference:werner-syndrome;MedGen:C0043119;OMIM:277700;Office of Rare Diseases:7885;Orphanet:902;SNOMED CT:51626007 2006-06-01 @@ -242,20 +264,23 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 9 34649442 A G 34649442 34649442 + Haplotype 3620 RCV000003804 SCV000023969 18652 GALT NM_000155.3:c.940A>G NP_000146.2:p.Asn314Asp NM_000155.3:c.940A>G:missense variant Benign benign 0 0 0 0 1 no assertion criteria provided no assertion criteria provided 2009-05-01 OMIM OMIM GALT POLYMORPHISM (LOS ANGELES, D1);GALT POLYMORPHISM (LOS ANGELES, D1) 10408771;10424825;19224951;2011574;4759900;8522334;9012409 germline OMIM:606999.0012 2009-05-01 9 37424827 TCC T 37424829 37424830 + Haplotype 204246 RCV000186453 SCV000239808 200618 GRHPR NM_012203.1:c.84-13_84-12delCC NM_012203.1:c.84-13_84-12delCC:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-11-27 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type II;Primary hyperoxaluria, type II 14635115;20301742 loss of function germline GeneReviews:NBK2692;Genetic Alliance:Primary+hyperoxaluria+type+2/5948;Genetic Testing Registry (GTR):GTR000118462;Genetic Testing Registry (GTR):GTR000507682;Genetic Testing Registry (GTR):GTR000522211;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268165;OMIM:260000;Office of Rare Diseases:2836;Orphanet:416;Orphanet:93599;SNOMED CT:40951006 2014-11-27 9 37424833 TCCCC T 37424834 37424837 + Haplotype 204246 RCV000186453 SCV000239808 200619 GRHPR NM_012203.1:c.84-8_84-5delCCCC NM_012203.1:c.84-8_84-5delCCCC:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-11-27 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type II;Primary hyperoxaluria, type II 14635115;20301742 loss of function germline GeneReviews:NBK2692;Genetic Alliance:Primary+hyperoxaluria+type+2/5948;Genetic Testing Registry (GTR):GTR000118462;Genetic Testing Registry (GTR):GTR000507682;Genetic Testing Registry (GTR):GTR000522211;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268165;OMIM:260000;Office of Rare Diseases:2836;Orphanet:416;Orphanet:93599;SNOMED CT:40951006 2014-11-27 -9 101340316 T C 101340316 101340316 - Haplotype 3331 RCV000003495 SCV000023653 18370 GABBR2 NM_005458.7:c.360A>G NP_005449.5:p.Ala120= NM_005458.7:c.360A>G:synonymous variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-06-09 OMIM OMIM Tobacco addiction, susceptibility to;NICOTINE DEPENDENCE, SUSCEPTIBILITY TO 15759211 germline Genetic Alliance:Tobacco+addiction%2C+susceptibility+to/9410;MedGen:C1861063;OMIM:188890;OMIM:607340.0001;OMIM:607340.0002 2010-06-09 +9 101340316 T C 101340316 101340316 - Haplotype 3331 RCV000003495 SCV000023653 18370 GABBR2 NM_005458.7:c.360A>G NP_005449.5:p.Ala120= NM_005458.7:c.360A>G:synonymous variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-05-01 OMIM OMIM Tobacco addiction, susceptibility to;NICOTINE DEPENDENCE, SUSCEPTIBILITY TO 15759211 germline Genetic Alliance:Tobacco+addiction%2C+susceptibility+to/9410;MedGen:C1861063;OMIM:188890;OMIM:607340.0001;OMIM:607340.0002 2005-05-01 9 127262853 G A 127262853 127262853 - Haplotype 12809 RCV000013657 SCV000033904 38458 NR5A1 NM_004959.4:c.386C>T NP_004950.2:p.Pro129Leu NM_004959.4:c.386C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-10-08 OMIM OMIM Premature ovarian failure 7;PREMATURE OVARIAN FAILURE 7 19246354;20887963 germline Genetic Alliance:Premature+ovarian+failure+7/9153;MedGen:C2751825;OMIM:612964 2010-10-08 9 127262853 G A 127262853 127262853 - Haplotype 12809 RCV000022775 SCV000044064 38458 NR5A1 NM_004959.4:c.386C>T NP_004950.2:p.Pro129Leu NM_004959.4:c.386C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-10-08 OMIM OMIM Spermatogenic failure 8 19246354;20887963 germline Genetic Alliance:Spermatogenic+failure+8/9327;MedGen:C3151406;OMIM:613957 2010-10-08 9 127262871 C G 127262871 127262871 - Haplotype 12809 RCV000013657 SCV000033904 27848 NR5A1 NM_004959.4:c.368G>C NP_004950.2:p.Gly123Ala NM_004959.4:c.368G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-10-08 OMIM OMIM Premature ovarian failure 7;PREMATURE OVARIAN FAILURE 7 19246354;20887963 germline Genetic Alliance:Premature+ovarian+failure+7/9153;MedGen:C2751825;OMIM:612964 2010-10-08 9 127262871 C G 127262871 127262871 - Haplotype 12809 RCV000022775 SCV000044064 27848 NR5A1 NM_004959.4:c.368G>C NP_004950.2:p.Gly123Ala NM_004959.4:c.368G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-10-08 OMIM OMIM Spermatogenic failure 8 19246354;20887963 germline Genetic Alliance:Spermatogenic+failure+8/9327;MedGen:C3151406;OMIM:613957 2010-10-08 +9 135203105 G A 135203105 135203105 - Haplotype 441281 RCV000002384 SCV000022542 38425 SETX NM_015046.5:c.3880C>T NP_055861.3:p.Arg1294Cys NM_015046.5:c.3880C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-05-23 OMIM OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 16717225;20050888;20301317;20301333 germline GeneReviews:NBK1154;Genetic Alliance:Spinocerebellar+ataxia+autosomal+recessive+1/6771;Genetics Home Reference:ataxia-with-oculomotor-apraxia;MedGen:C1853761;OMIM:606002;Office of Rare Diseases:4949;Orphanet:64753 2006-05-23 9 135203176 G A 135203176 135203176 - Phase unknown 157525 RCV000144869 SCV000172140 167387 SETX NM_015046.5:c.3809C>T NP_055861.3:p.Pro1270Leu NM_015046.5:c.3809C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2013-11-01 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 9 135203908 C CTCA 135203909 135203910 Distinct chromosomes 157528 RCV000144873 SCV000172145 167390 REEP1 NM_015046.5:c.3075_3076insTGA NP_055861.3:p.Arg1026_Lys1360delinsTer NM_015046.5:c.3075_3076insTGA:inframe_variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2013-11-01 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type|spasticity;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 +9 135205028 G T 135205028 135205028 - Haplotype 441280 RCV000002383 SCV000022541 38424 SETX NM_015046.5:c.1957C>A NP_055861.3:p.Gln653Lys NM_015046.5:c.1957C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2007-01-01 OMIM OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 17096168;20050888;20301317;20301333 germline GeneReviews:NBK1154;Genetic Alliance:Spinocerebellar+ataxia+autosomal+recessive+1/6771;Genetics Home Reference:ataxia-with-oculomotor-apraxia;MedGen:C1853761;OMIM:606002;Office of Rare Diseases:4949;Orphanet:64753 2007-01-01 +9 135205178 T C 135205178 135205178 - Haplotype 441280 RCV000002383 SCV000022541 17332 SETX NM_015046.5:c.1807A>G NP_055861.3:p.Asn603Asp NM_015046.5:c.1807A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2007-01-01 OMIM OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 17096168;20050888;20301317;20301333 germline GeneReviews:NBK1154;Genetic Alliance:Spinocerebellar+ataxia+autosomal+recessive+1/6771;Genetics Home Reference:ataxia-with-oculomotor-apraxia;MedGen:C1853761;OMIM:606002;Office of Rare Diseases:4949;Orphanet:64753 2007-01-01 9 135224757 C T 135224757 135224757 - Phase unknown 157525 RCV000144869 SCV000172140 167386 SETX NM_015046.5:c.59G>A NP_055861.3:p.Arg20His NM_015046.5:c.59G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2013-11-01 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 9 136131315 C G 136131315 136131315 - Haplotype 17738 RCV000019312 SCV000039601 38414 ABO NM_020469.2:c.803G>C NP_065202.2:p.Gly268Ala NM_020469.2:c.803G>C:missense variant association association 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-05-18 OMIM OMIM ABO blood group system;ABO BLOOD GROUP SYSTEM, CIS-AB PHENOTYPE 14170898;6775529;8456556 germline MedGen:C0000778;OMIM:110300.0001;OMIM:110300.0002;OMIM:110300.0003;OMIM:110300.0004;OMIM:110300.0005;OMIM:616093;SNOMED CT:63915006 2015-05-18 9 136131651 G A 136131651 136131651 - Haplotype 17738 RCV000019312 SCV000039601 32777 ABO NM_020469.2:c.467C>T NP_065202.2:p.Pro156Leu NM_020469.2:c.467C>T:missense variant association association 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-05-18 OMIM OMIM ABO blood group system;ABO BLOOD GROUP SYSTEM, CIS-AB PHENOTYPE 14170898;6775529;8456556 germline MedGen:C0000778;OMIM:110300.0001;OMIM:110300.0002;OMIM:110300.0003;OMIM:110300.0004;OMIM:110300.0005;OMIM:616093;SNOMED CT:63915006 2015-05-18 9 136301982 C G 136301982 136301982 + Haplotype 5813 RCV000006169 SCV000026351 20852 ADAMTS13 NM_139025.4:c.1342C>G NP_620594.1:p.Gln448Glu NM_139025.4:c.1342C>G:missense variant;NR_024514.2:n.993-2504C>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-09-03 OMIM OMIM Upshaw-Schulman syndrome;THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL 12181489 germline Genetic Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089;Genetics Home Reference:thrombotic-thrombocytopenic-purpura;MedGen:C1268935;OMIM:274150;Office of Rare Diseases:9430;SNOMED CT:373420004 2002-09-03 9 136302956 G A 136302956 136302956 + Haplotype 5813 RCV000006169 SCV000026351 38438 ADAMTS13 NM_139025.4:c.1523G>A NP_620594.1:p.Cys508Tyr NM_139025.4:c.1523G>A:missense variant;NR_024514.2:n.993-1530G>A:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-09-03 OMIM OMIM Upshaw-Schulman syndrome;THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL 12181489 germline Genetic Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089;Genetics Home Reference:thrombotic-thrombocytopenic-purpura;MedGen:C1268935;OMIM:274150;Office of Rare Diseases:9430;SNOMED CT:373420004 2002-09-03 -9 136501794 G A 136501794 136501794 + Haplotype 1752 RCV000001822 SCV000021978 16791 DBH NM_000787.3:c.301G>A NP_000778.3:p.Val101Met NM_000787.3:c.301G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-03-01 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C1857209;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 -9 136512976 G A 136512976 136512976 + Haplotype 1752 RCV000001822 SCV000021978 38418 DBH NM_000787.3:c.1033G>A NP_000778.3:p.Asp345Asn NM_000787.3:c.1033G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-03-01 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C1857209;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 +9 136501794 G A 136501794 136501794 + Haplotype 1752 RCV000001822 SCV000021978 16791 DBH NM_000787.3:c.301G>A NP_000778.3:p.Val101Met NM_000787.3:c.301G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-03-01 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C0342687;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 +9 136512976 G A 136512976 136512976 + Haplotype 1752 RCV000001822 SCV000021978 38418 DBH NM_000787.3:c.1033G>A NP_000778.3:p.Asp345Asn NM_000787.3:c.1033G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-03-01 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C0342687;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 10 43609944 G C 43609944 43609944 + Haplotype 13906 RCV000014920 SCV000035176 28945 RET NM_020975.4:c.1896G>C NP_066124.1:p.Glu632Asp NM_020975.4:c.1896G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1994-01-01 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 10 43609945 C G 43609945 43609945 + Haplotype 13906 RCV000014920 SCV000035176 38399 RET NM_020975.4:c.1897C>G NP_066124.1:p.Leu633Val NM_020975.4:c.1897C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1994-01-01 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 10 43609948 T C 43609948 43609948 + Haplotype 13906 RCV000014920 SCV000035176 28956 RET NM_020975.4:c.1900T>C NP_066124.1:p.Cys634Arg NM_020975.4:c.1900T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1994-01-01 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 @@ -273,50 +298,52 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 10 120790139 CG TA 120790139 120790140 + Haplotype 65392 RCV000055619 SCV000083844 76327 NANOS1 NM_199461.3:c.826_827delCGinsTA NP_955631.1:p.Arg276Tyr NM_199461.3:c.826_827delCGinsTA:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-03-01 OMIM OMIM Spermatogenic failure 12;SPERMATOGENIC FAILURE 12 23315541 germline MedGen:C3809427;OMIM:615413 2013-03-01 10 135339605 G C 135339605 135339605 + Haplotype 16887 RCV000018383 SCV000038665 136523 CYP2E1 NM_000773.3:c.-1295G>C NM_000773.3:c.-1295G>C:2KB upstream variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-04-20 OMIM OMIM CYP2E1*5B ALLELE;CYP2E1*5B ALLELE 10543395;1778977;19444287 germline OMIM:124040.0001 2016-04-20 10 135339845 C T 135339845 135339845 + Haplotype 16887 RCV000018383 SCV000038665 136524 CYP2E1 NM_000773.3:c.-1055C>T NM_000773.3:c.-1055C>T:2KB upstream variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-04-20 OMIM OMIM CYP2E1*5B ALLELE;CYP2E1*5B ALLELE 10543395;1778977;19444287 germline OMIM:124040.0001 2016-04-20 -11 5246839 T A 5246839 5246839 - Haplotype 15617 RCV000016884 SCV000037154 38409 HBB NM_000518.4:c.433A>T NP_000509.1:p.Lys145Ter NM_000518.4:c.433A>T:nonsense other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 -11 5246844 G A 5246844 5246844 - Haplotype 15337 RCV000016580 SCV000036849 38472 HBB NM_000518.4:c.428C>T NP_000509.1:p.Ala143Val NM_000518.4:c.428C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-01-01 OMIM OMIM HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (TRAVIS) 1634360;19257 germline OMIM:141900.0247 1992-01-01 -11 5246848 G C 5246848 5246848 - Haplotype 15617 RCV000016884 SCV000037154 30656 HBB NM_000518.4:c.424C>G NP_000509.1:p.Leu142Val NM_000518.4:c.424C>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 -11 5246905 A G 5246905 5246905 - Haplotype 15581 RCV000016848 SCV000037118 30619 HBB NM_000518.4:c.367T>C NP_000509.1:p.Phe123Leu NM_000518.4:c.367T>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 -11 5246908 C G 5246908 5246908 - Haplotype 15366 RCV000016617 SCV000036886 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN T (CAMBODIA) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0276 2016-07-20 -11 5246908 C G 5246908 5246908 - Haplotype 15496 RCV000016758 SCV000037028 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CLEVELAND;HEMOGLOBIN CLEVELAND 1177278;1244906;12709369;15108284;16370495;16540414;1787096;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0407 2016-07-20 -11 5246908 C G 5246908 5246908 - Haplotype 15591 RCV000016858 SCV000037128 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN D (AGRI);HEMOGLOBIN D (AGRI) 11570725;1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0502 2016-07-20 -11 5246908 C T 5246908 5246908 - Haplotype 15335 RCV000016577 SCV000036846 30331 HBB NM_000518.4:c.364G>A NP_000509.1:p.Glu122Lys NM_000518.4:c.364G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1999-04-01 OMIM OMIM Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN) 10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005 1999-04-01 -11 5246908 C T 5246908 5246908 - Haplotype 15596 RCV000016863 SCV000037133 30331 HBB NM_000518.4:c.364G>A NP_000509.1:p.Glu122Lys NM_000518.4:c.364G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN O (TIBESTI);HEMOGLOBIN O (TIBESTI) 1112610;11179419;11939508;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline OMIM:141900.0507 2016-07-20 -11 5246913 C T 5246913 5246913 - Haplotype 15165 RCV000016336 SCV000036604 38469 HBB NM_000518.4:c.359G>A NP_000509.1:p.Gly120Asp NM_000518.4:c.359G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN FANNIN-LUBBOCK 20942;7852084 germline OMIM:141900.0075 2017-02-27 -11 5246913 C T 5246913 5246913 - Haplotype 15262 RCV000016486 SCV000036754 38469 HBB NM_000518.4:c.359G>A NP_000509.1:p.Gly120Asp NM_000518.4:c.359G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MASUDA;HEMOGLOBIN MASUDA 2634673 germline OMIM:141900.0172 2016-07-20 -11 5246929 G T 5246929 5246929 - Haplotype 15262 RCV000016486 SCV000036754 30525 HBB NM_000518.4:c.343C>A NP_000509.1:p.Leu115Met NM_000518.4:c.343C>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MASUDA;HEMOGLOBIN MASUDA 2634673 germline OMIM:141900.0172 2016-07-20 -11 5246938 C G 5246938 5246938 - Haplotype 15165 RCV000016336 SCV000036604 30204 HBB NM_000518.4:c.334G>C NP_000509.1:p.Val112Leu NM_000518.4:c.334G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN FANNIN-LUBBOCK 20942;7852084 germline OMIM:141900.0075 2017-02-27 -11 5247827 C T 5247827 5247827 - Haplotype 15541 RCV000016807 SCV000037077 30280 HBB NM_000518.4:c.295G>A NP_000509.1:p.Val99Met NM_000518.4:c.295G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 -11 5247836 T C 5247836 5247836 - Haplotype 15098 RCV000016251 SCV000036519 30317 HBB NM_000518.4:c.286A>G NP_000509.1:p.Lys96Glu NM_000518.4:c.286A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 -11 5247842 A G 5247842 5247842 - Haplotype 15496 RCV000016758 SCV000037028 30336 HBB NM_000518.4:c.280T>C NP_000509.1:p.Cys94Arg NM_000518.4:c.280T>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CLEVELAND;HEMOGLOBIN CLEVELAND 1177278;1244906;12709369;15108284;16370495;16540414;1787096;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0407 2016-07-20 -11 5247844 T G 5247844 5247844 - Haplotype 15516 RCV000016780 SCV000037050 30326 HBB NM_000518.4:c.278A>C NP_000509.1:p.His93Pro NM_000518.4:c.278A>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN DUINO;HEMOGLOBIN DUINO 1511986 germline OMIM:141900.0427 2016-07-20 -11 5247851 C T 5247851 5247851 - Haplotype 15610 RCV000016877 SCV000037147 30130 HBB NM_000518.4:c.271G>A NP_000509.1:p.Glu91Lys NM_000518.4:c.271G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-05-01 OMIM OMIM HEMOGLOBIN S (CAMEROON);HEMOGLOBIN S (CAMEROON) 15182055 germline OMIM:141900.0521 2004-05-01 -11 5247863 C G 5247863 5247863 - Haplotype 15313 RCV000016553 SCV000036821 30650 HBB NM_000518.4:c.259G>C NP_000509.1:p.Ala87Pro NM_000518.4:c.259G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 -11 5247902 C T 5247902 5247902 - Haplotype 15127 RCV000016286 SCV000036554 30283 HBB NM_000518.4:c.220G>A NP_000509.1:p.Asp74Asn NM_000518.4:c.220G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN) 13943409;5069596;5490239;5928902 germline OMIM:141900.0039;OMIM:141900.0040 2017-02-27 -11 5247917 G A 5247917 5247917 - Haplotype 15612 RCV000016879 SCV000037149 30652 HBB NM_000518.4:c.205C>T NP_000509.1:p.Leu69Phe NM_000518.4:c.205C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN JAMAICA PLAIN;HEMOGLOBIN JAMAICA PLAIN 15470216;6166632 germline OMIM:141900.0523 2017-02-27 -11 5247925 T A 5247925 5247925 - Haplotype 15581 RCV000016848 SCV000037118 30250 HBB NM_000518.4:c.197A>T NP_000509.1:p.Lys66Met NM_000518.4:c.197A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 -11 5247946 G C 5247946 5247946 - Haplotype 15128 RCV000030905 SCV000036556 30437 HBB NM_000518.4:c.176C>G NP_000509.1:p.Pro59Arg NM_000518.4:c.176C>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (ZIGUINCHOR) 1225575;893143 germline OMIM:141900.0039;OMIM:141900.0040 2016-07-20 -11 5247953 C G 5247953 5247953 - Haplotype 15313 RCV000016553 SCV000036821 30227 HBB NM_000518.4:c.169G>C NP_000509.1:p.Gly57Arg NM_000518.4:c.169G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 -11 5247965 C T 5247965 5247965 - Haplotype 15497 RCV000016759 SCV000037029 30341 HBB NM_000518.4:c.157G>A NP_000509.1:p.Asp53Asn NM_000518.4:c.157G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 -11 5247968 G A 5247968 5247968 - Haplotype 15497 RCV000016759 SCV000037029 30536 HBB NM_000518.4:c.154C>T NP_000509.1:p.Pro52Ser NM_000518.4:c.154C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 -11 5248024 A T 5248024 5248024 - Haplotype 15541 RCV000016807 SCV000037077 30572 HBB NM_000518.4:c.98T>A NP_000509.1:p.Leu33Gln NM_000518.4:c.98T>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 -11 5248173 C T 5248173 5248173 - Haplotype 15366 RCV000016617 SCV000036886 30200 HBB NM_000518.4:c.79G>A NP_000509.1:p.Glu27Lys NM_000518.4:c.79G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN T (CAMBODIA) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0276 2016-07-20 -11 5248182 C T 5248182 5248182 - Haplotype 15334 RCV000016576 SCV000036845 38470 HBB NM_000518.4:c.70G>A NP_000509.1:p.Val24Ile NM_000518.4:c.70G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-06-01 OMIM OMIM HEMOGLOBIN S (ANTILLES);HEMOGLOBIN S (ANTILLES) 2189492;3467311;9166865 germline OMIM:141900.0244 1997-06-01 -11 5248218 C T 5248218 5248218 - Haplotype 15596 RCV000016863 SCV000037133 30228 HBB NM_000518.4:c.34G>A NP_000509.1:p.Val12Ile NM_000518.4:c.34G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN O (TIBESTI);HEMOGLOBIN O (TIBESTI) 1112610;11179419;11939508;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline OMIM:141900.0507 2016-07-20 -11 5248223 G T 5248223 5248223 - Haplotype 15591 RCV000016858 SCV000037128 30658 HBB NM_000518.4:c.29C>A NP_000509.1:p.Ser10Tyr NM_000518.4:c.29C>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN D (AGRI);HEMOGLOBIN D (AGRI) 11570725;1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0502 2016-07-20 -11 5248232 T A 5248232 5248232 - Haplotype 15127 RCV000016286 SCV000036554 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN) 13943409;5069596;5490239;5928902 germline OMIM:141900.0039;OMIM:141900.0040 2017-02-27 -11 5248232 T A 5248232 5248232 - Haplotype 15128 RCV000030905 SCV000036556 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (ZIGUINCHOR) 1225575;893143 germline OMIM:141900.0039;OMIM:141900.0040 2016-07-20 -11 5248232 T A 5248232 5248232 - Haplotype 15334 RCV000016576 SCV000036845 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-06-01 OMIM OMIM HEMOGLOBIN S (ANTILLES);HEMOGLOBIN S (ANTILLES) 2189492;3467311;9166865 germline OMIM:141900.0244 1997-06-01 -11 5248232 T A 5248232 5248232 - Haplotype 15335 RCV000016577 SCV000036846 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1999-04-01 OMIM OMIM Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN) 10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005 1999-04-01 -11 5248232 T A 5248232 5248232 - Haplotype 15336 RCV000016579 SCV000036848 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1988-10-01 OMIM OMIM HEMOGLOBIN S (PROVIDENCE);HEMOGLOBIN S (PROVIDENCE) 3191036 germline OMIM:141900.0246 1988-10-01 -11 5248232 T A 5248232 5248232 - Haplotype 15337 RCV000016580 SCV000036849 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-01-01 OMIM OMIM HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (TRAVIS) 1634360;19257 germline OMIM:141900.0247 1992-01-01 -11 5248232 T A 5248232 5248232 - Haplotype 15610 RCV000016877 SCV000037147 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-05-01 OMIM OMIM HEMOGLOBIN S (CAMEROON);HEMOGLOBIN S (CAMEROON) 15182055 germline OMIM:141900.0521 2004-05-01 -11 5248232 T A 5248232 5248232 - Haplotype 15612 RCV000016879 SCV000037149 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN JAMAICA PLAIN;HEMOGLOBIN JAMAICA PLAIN 15470216;6166632 germline OMIM:141900.0523 2017-02-27 -11 5248233 C T 5248233 5248233 - Haplotype 15098 RCV000016251 SCV000036519 30165 HBB NM_000518.4:c.19G>A NP_000509.1:p.Glu7Lys NM_000518.4:c.19G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 -11 5269623 G C 5269623 5269623 - Haplotype 15036 RCV000016180 SCV000036448 38468 HBG1 NM_000559.2:c.410C>G NP_000550.2:p.Ala137Gly NM_000559.2:c.410C>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-07-15 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (CHARLOTTE) 1714434 germline OMIM:142200.0032 2011-07-15 -11 5269624 C A 5269624 5269624 - Haplotype 15041 RCV000016185 SCV000036453 30080 HBG1 NM_000559.2:c.409G>T NP_000550.2:p.Ala137Ser NM_000559.2:c.409G>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-18 OMIM OMIM HEMOGLOBIN F (PORTO TORRES);HEMOGLOBIN F (PORTO TORRES) 15666429 germline OMIM:142200.0037 2016-08-18 -11 5270686 G A 5270686 5270686 - Haplotype 15036 RCV000016180 SCV000036448 30044 HBG1 NM_000559.2:c.227C>T NP_000550.2:p.Thr76Ile NM_000559.2:c.227C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-07-15 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (CHARLOTTE) 1714434 germline OMIM:142200.0032 2011-07-15 -11 5270686 G A 5270686 5270686 - Haplotype 15041 RCV000016185 SCV000036453 30044 HBG1 NM_000559.2:c.227C>T NP_000550.2:p.Thr76Ile NM_000559.2:c.227C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-18 OMIM OMIM HEMOGLOBIN F (PORTO TORRES);HEMOGLOBIN F (PORTO TORRES) 15666429 germline OMIM:142200.0037 2016-08-18 +11 2593319 G A 2593319 2593319 + Haplotype 444879 RCV000003296 SCV000023454 18157 KCNQ1 NM_000218.2:c.760G>A NP_000209.2:p.Val254Met NM_000218.2:c.760G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-03-01 OMIM OMIM Long QT syndrome 1;LONG QT SYNDROME 1 10973849;12820704;14678125;1475667;14756674;20301308;21810866;23788249;25356965;27854360;8528244;9386136 germline GeneReviews:NBK1129;Genetic Alliance:Long+QT+syndrome+1/4297;MedGen:C0035828;OMIM:192500;Office of Rare Diseases:3284;Orphanet:101016;Orphanet:768;SNOMED CT:20852007 2004-03-01 +11 2608920 G A 2608920 2608920 + Haplotype 444879 RCV000003296 SCV000023454 38428 KCNQ1 NM_181798.1:c.868G>A NP_000209.2:p.Val417Met NM_000218.2:c.1249G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-03-01 OMIM OMIM Long QT syndrome 1;LONG QT SYNDROME 1 10973849;12820704;14678125;1475667;14756674;20301308;21810866;23788249;25356965;27854360;8528244;9386136 germline GeneReviews:NBK1129;Genetic Alliance:Long+QT+syndrome+1/4297;MedGen:C0035828;OMIM:192500;Office of Rare Diseases:3284;Orphanet:101016;Orphanet:768;SNOMED CT:20852007 2004-03-01 +11 5246839 T A 5246839 5246839 - Haplotype 446749 RCV000016884 SCV000037154 38409 HBB NM_000518.4:c.433A>T NP_000509.1:p.Lys145Ter NM_000518.4:c.433A>T:nonsense other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 +11 5246844 G A 5246844 5246844 - Haplotype 446738 RCV000016580 SCV000036849 38472 HBB NM_000518.4:c.428C>T NP_000509.1:p.Ala143Val NM_000518.4:c.428C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-01-01 OMIM OMIM HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (TRAVIS) 1634360;19257 germline OMIM:141900.0247 1992-01-01 +11 5246848 G C 5246848 5246848 - Haplotype 446749 RCV000016884 SCV000037154 30656 HBB NM_000518.4:c.424C>G NP_000509.1:p.Leu142Val NM_000518.4:c.424C>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 +11 5246905 A G 5246905 5246905 - Haplotype 446744 RCV000016848 SCV000037118 30619 HBB NM_000518.4:c.367T>C NP_000509.1:p.Phe123Leu NM_000518.4:c.367T>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 +11 5246908 C G 5246908 5246908 - Haplotype 446739 RCV000016617 SCV000036886 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN T (CAMBODIA) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0276 2016-07-20 +11 5246908 C G 5246908 5246908 - Haplotype 446740 RCV000016758 SCV000037028 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CLEVELAND;HEMOGLOBIN CLEVELAND 1177278;1244906;12709369;15108284;16370495;16540414;1787096;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0407 2016-07-20 +11 5246908 C G 5246908 5246908 - Haplotype 446745 RCV000016858 SCV000037128 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN D (AGRI);HEMOGLOBIN D (AGRI) 11570725;1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0502 2016-07-20 +11 5246908 C T 5246908 5246908 - Haplotype 446736 RCV000016577 SCV000036846 30331 HBB NM_000518.4:c.364G>A NP_000509.1:p.Glu122Lys NM_000518.4:c.364G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1999-04-01 OMIM OMIM Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN) 10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005 1999-04-01 +11 5246908 C T 5246908 5246908 - Haplotype 446746 RCV000016863 SCV000037133 30331 HBB NM_000518.4:c.364G>A NP_000509.1:p.Glu122Lys NM_000518.4:c.364G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN O (TIBESTI);HEMOGLOBIN O (TIBESTI) 1112610;11179419;11939508;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline OMIM:141900.0507 2016-07-20 +11 5246913 C T 5246913 5246913 - Haplotype 446732 RCV000016336 SCV000036604 38469 HBB NM_000518.4:c.359G>A NP_000509.1:p.Gly120Asp NM_000518.4:c.359G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN FANNIN-LUBBOCK 20942;7852084 germline OMIM:141900.0075 2017-02-27 +11 5246913 C T 5246913 5246913 - Haplotype 446733 RCV000016486 SCV000036754 38469 HBB NM_000518.4:c.359G>A NP_000509.1:p.Gly120Asp NM_000518.4:c.359G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MASUDA;HEMOGLOBIN MASUDA 2634673 germline OMIM:141900.0172 2016-07-20 +11 5246929 G T 5246929 5246929 - Haplotype 446733 RCV000016486 SCV000036754 30525 HBB NM_000518.4:c.343C>A NP_000509.1:p.Leu115Met NM_000518.4:c.343C>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MASUDA;HEMOGLOBIN MASUDA 2634673 germline OMIM:141900.0172 2016-07-20 +11 5246938 C G 5246938 5246938 - Haplotype 446732 RCV000016336 SCV000036604 30204 HBB NM_000518.4:c.334G>C NP_000509.1:p.Val112Leu NM_000518.4:c.334G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN FANNIN-LUBBOCK 20942;7852084 germline OMIM:141900.0075 2017-02-27 +11 5247827 C T 5247827 5247827 - Haplotype 446743 RCV000016807 SCV000037077 30280 HBB NM_000518.4:c.295G>A NP_000509.1:p.Val99Met NM_000518.4:c.295G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 +11 5247836 T C 5247836 5247836 - Haplotype 446729 RCV000016251 SCV000036519 30317 HBB NM_000518.4:c.286A>G NP_000509.1:p.Lys96Glu NM_000518.4:c.286A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 +11 5247842 A G 5247842 5247842 - Haplotype 446740 RCV000016758 SCV000037028 30336 HBB NM_000518.4:c.280T>C NP_000509.1:p.Cys94Arg NM_000518.4:c.280T>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CLEVELAND;HEMOGLOBIN CLEVELAND 1177278;1244906;12709369;15108284;16370495;16540414;1787096;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0407 2016-07-20 +11 5247844 T G 5247844 5247844 - Haplotype 446742 RCV000016780 SCV000037050 30326 HBB NM_000518.4:c.278A>C NP_000509.1:p.His93Pro NM_000518.4:c.278A>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN DUINO;HEMOGLOBIN DUINO 1511986 germline OMIM:141900.0427 2016-07-20 +11 5247851 C T 5247851 5247851 - Haplotype 446747 RCV000016877 SCV000037147 30130 HBB NM_000518.4:c.271G>A NP_000509.1:p.Glu91Lys NM_000518.4:c.271G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-05-01 OMIM OMIM HEMOGLOBIN S (CAMEROON);HEMOGLOBIN S (CAMEROON) 15182055 germline OMIM:141900.0521 2004-05-01 +11 5247863 C G 5247863 5247863 - Haplotype 446734 RCV000016553 SCV000036821 30650 HBB NM_000518.4:c.259G>C NP_000509.1:p.Ala87Pro NM_000518.4:c.259G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 +11 5247902 C T 5247902 5247902 - Haplotype 446730 RCV000016286 SCV000036554 30283 HBB NM_000518.4:c.220G>A NP_000509.1:p.Asp74Asn NM_000518.4:c.220G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN) 13943409;5069596;5490239;5928902 germline OMIM:141900.0039;OMIM:141900.0040 2017-02-27 +11 5247917 G A 5247917 5247917 - Haplotype 446748 RCV000016879 SCV000037149 30652 HBB NM_000518.4:c.205C>T NP_000509.1:p.Leu69Phe NM_000518.4:c.205C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN JAMAICA PLAIN;HEMOGLOBIN JAMAICA PLAIN 15470216;6166632 germline OMIM:141900.0523 2017-02-27 +11 5247925 T A 5247925 5247925 - Haplotype 446744 RCV000016848 SCV000037118 30250 HBB NM_000518.4:c.197A>T NP_000509.1:p.Lys66Met NM_000518.4:c.197A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 +11 5247946 G C 5247946 5247946 - Haplotype 446731 RCV000030905 SCV000036556 30437 HBB NM_000518.4:c.176C>G NP_000509.1:p.Pro59Arg NM_000518.4:c.176C>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (ZIGUINCHOR) 1225575;893143 germline OMIM:141900.0039;OMIM:141900.0040 2016-07-20 +11 5247953 C G 5247953 5247953 - Haplotype 446734 RCV000016553 SCV000036821 30227 HBB NM_000518.4:c.169G>C NP_000509.1:p.Gly57Arg NM_000518.4:c.169G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 +11 5247965 C T 5247965 5247965 - Haplotype 446741 RCV000016759 SCV000037029 30341 HBB NM_000518.4:c.157G>A NP_000509.1:p.Asp53Asn NM_000518.4:c.157G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 +11 5247968 G A 5247968 5247968 - Haplotype 446741 RCV000016759 SCV000037029 30536 HBB NM_000518.4:c.154C>T NP_000509.1:p.Pro52Ser NM_000518.4:c.154C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 +11 5248024 A T 5248024 5248024 - Haplotype 446743 RCV000016807 SCV000037077 30572 HBB NM_000518.4:c.98T>A NP_000509.1:p.Leu33Gln NM_000518.4:c.98T>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 +11 5248173 C T 5248173 5248173 - Haplotype 446739 RCV000016617 SCV000036886 30200 HBB NM_000518.4:c.79G>A NP_000509.1:p.Glu27Lys NM_000518.4:c.79G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN T (CAMBODIA) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0276 2016-07-20 +11 5248182 C T 5248182 5248182 - Haplotype 446735 RCV000016576 SCV000036845 38470 HBB NM_000518.4:c.70G>A NP_000509.1:p.Val24Ile NM_000518.4:c.70G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-06-01 OMIM OMIM HEMOGLOBIN S (ANTILLES);HEMOGLOBIN S (ANTILLES) 2189492;3467311;9166865 germline OMIM:141900.0244 1997-06-01 +11 5248218 C T 5248218 5248218 - Haplotype 446746 RCV000016863 SCV000037133 30228 HBB NM_000518.4:c.34G>A NP_000509.1:p.Val12Ile NM_000518.4:c.34G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN O (TIBESTI);HEMOGLOBIN O (TIBESTI) 1112610;11179419;11939508;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline OMIM:141900.0507 2016-07-20 +11 5248223 G T 5248223 5248223 - Haplotype 446745 RCV000016858 SCV000037128 30658 HBB NM_000518.4:c.29C>A NP_000509.1:p.Ser10Tyr NM_000518.4:c.29C>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN D (AGRI);HEMOGLOBIN D (AGRI) 11570725;1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0502 2016-07-20 +11 5248232 T A 5248232 5248232 - Haplotype 446730 RCV000016286 SCV000036554 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN) 13943409;5069596;5490239;5928902 germline OMIM:141900.0039;OMIM:141900.0040 2017-02-27 +11 5248232 T A 5248232 5248232 - Haplotype 446731 RCV000030905 SCV000036556 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (ZIGUINCHOR) 1225575;893143 germline OMIM:141900.0039;OMIM:141900.0040 2016-07-20 +11 5248232 T A 5248232 5248232 - Haplotype 446735 RCV000016576 SCV000036845 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-06-01 OMIM OMIM HEMOGLOBIN S (ANTILLES);HEMOGLOBIN S (ANTILLES) 2189492;3467311;9166865 germline OMIM:141900.0244 1997-06-01 +11 5248232 T A 5248232 5248232 - Haplotype 446736 RCV000016577 SCV000036846 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1999-04-01 OMIM OMIM Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN) 10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005 1999-04-01 +11 5248232 T A 5248232 5248232 - Haplotype 446737 RCV000016579 SCV000036848 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1988-10-01 OMIM OMIM HEMOGLOBIN S (PROVIDENCE);HEMOGLOBIN S (PROVIDENCE) 3191036 germline OMIM:141900.0246 1988-10-01 +11 5248232 T A 5248232 5248232 - Haplotype 446738 RCV000016580 SCV000036849 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-01-01 OMIM OMIM HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (TRAVIS) 1634360;19257 germline OMIM:141900.0247 1992-01-01 +11 5248232 T A 5248232 5248232 - Haplotype 446747 RCV000016877 SCV000037147 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-05-01 OMIM OMIM HEMOGLOBIN S (CAMEROON);HEMOGLOBIN S (CAMEROON) 15182055 germline OMIM:141900.0521 2004-05-01 +11 5248232 T A 5248232 5248232 - Haplotype 446748 RCV000016879 SCV000037149 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN JAMAICA PLAIN;HEMOGLOBIN JAMAICA PLAIN 15470216;6166632 germline OMIM:141900.0523 2017-02-27 +11 5248233 C T 5248233 5248233 - Haplotype 446729 RCV000016251 SCV000036519 30165 HBB NM_000518.4:c.19G>A NP_000509.1:p.Glu7Lys NM_000518.4:c.19G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 +11 5269623 G C 5269623 5269623 - Haplotype 446751 RCV000016180 SCV000036448 38468 HBG1 NM_000559.2:c.410C>G NP_000550.2:p.Ala137Gly NM_000559.2:c.410C>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-07-15 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (CHARLOTTE) 1714434 germline OMIM:142200.0032 2011-07-15 +11 5269624 C A 5269624 5269624 - Haplotype 446752 RCV000016185 SCV000036453 30080 HBG1 NM_000559.2:c.409G>T NP_000550.2:p.Ala137Ser NM_000559.2:c.409G>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-18 OMIM OMIM HEMOGLOBIN F (PORTO TORRES);HEMOGLOBIN F (PORTO TORRES) 15666429 germline OMIM:142200.0037 2016-08-18 +11 5270686 G A 5270686 5270686 - Haplotype 446751 RCV000016180 SCV000036448 30044 HBG1 NM_000559.2:c.227C>T NP_000550.2:p.Thr76Ile NM_000559.2:c.227C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-07-15 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (CHARLOTTE) 1714434 germline OMIM:142200.0032 2011-07-15 +11 5270686 G A 5270686 5270686 - Haplotype 446752 RCV000016185 SCV000036453 30044 HBG1 NM_000559.2:c.227C>T NP_000550.2:p.Thr76Ile NM_000559.2:c.227C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-18 OMIM OMIM HEMOGLOBIN F (PORTO TORRES);HEMOGLOBIN F (PORTO TORRES) 15666429 germline OMIM:142200.0037 2016-08-18 11 36596373 C T 36596373 36596373 + Haplotype 13157 RCV000014043 SCV000034290 28196 RAG1 NM_000448.2:c.1519C>T NP_000439.1:p.Arg507Trp NM_000448.2:c.1519C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-05-08 OMIM OMIM Combined cellular and humoral immune defects with granulomas;COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS 18463379 germline Genetic Alliance:Combined+cellular+and+humoral+immune+defects+with+granulomas/8008;MedGen:C2673536;OMIM:233650 2008-05-08 11 36597064 G A 36597064 36597064 + Haplotype 13157 RCV000014043 SCV000034290 28188 RAG1 NM_000448.2:c.2210G>A NP_000439.1:p.Arg737His NM_000448.2:c.2210G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-05-08 OMIM OMIM Combined cellular and humoral immune defects with granulomas;COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS 18463379 germline Genetic Alliance:Combined+cellular+and+humoral+immune+defects+with+granulomas/8008;MedGen:C2673536;OMIM:233650 2008-05-08 11 44129522 T G 44129522 44129522 + Haplotype 218894 RCV000203245 SCV000258309 137950 EXT2 NM_000401.3:c.359T>G NP_997005.1:p.Met87Arg NM_207122.1:c.260T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-10-01 OMIM OMIM Seizures, scoliosis, and macrocephaly syndrome;SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME (1 family) 26246518 germline MedGen:C4225248;OMIM:616682 2015-10-01 @@ -326,14 +353,15 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 11 71936057 C CG 71936063 71936063 + Haplotype 235823 RCV000224773 SCV000281677 237478 INPPL1 NM_001567.3:c.35dupG NP_001558.3:p.Ala13Argfs NM_001567.3:c.35dupG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-01-08 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 unknown Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 11 71940602 G C 71940602 71940602 + Haplotype 235822 RCV000224420 SCV000281676 237479 INPPL1 NM_001567.3:c.753G>C NP_001558.3:p.Gln251His NM_001567.3:c.753G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-01-08 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 11 71940720 CAG C 71940721 71940722 + Haplotype 235825 RCV000224914 SCV000281680 237480 INPPL1 NM_001567.3:c.768_769delAG NP_001558.3:p.Glu258Alafs NM_001567.3:c.768_769delAG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-01-08 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 +11 71943304 G A 71943304 71943304 Distinct chromosomes 488055 RCV000577875 SCV000583573 481067 SH3PXD2B NM_001567.3:c.1636G>A NP_001558.3:p.Val546Ile NM_001567.3:c.1636G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Frank Ter Haar syndrome;Opsismodysplasia 1;20137777;29276006 unknown Genetic Alliance:Frank+Ter+Haar+Syndrome/2915;Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;MedGen:C1855305;OMIM:249420;OMIM:258480;Office of Rare Diseases:4098;Office of Rare Diseases:5138;Orphanet:137834;Orphanet:2746;SNOMED CT:254068007 2017-06-01 11 71943347 GTCACC G 71943355 71943359 + Haplotype 235823 RCV000224773 SCV000281677 237481 INPPL1 NM_001567.3:c.1687_1691delACCTC NP_001558.3:p.Thr563Glyfs NM_001567.3:c.1687_1691delACCTC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-01-08 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 unknown Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 11 71945660 G A 71945660 71945660 + Haplotype 235825 RCV000224914 SCV000281680 48075 INPPL1 NM_001567.3:c.2415+1G>A NM_001567.3:c.2415+1G>A:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-01-08 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 11 121037361 C T 121037361 121037361 + Haplotype 7013 RCV000007428 SCV000027628 22052 TECTA NM_005422.2:c.5458C>T NP_005413.2:p.Leu1820Phe NM_005422.2:c.5458C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-05-01 OMIM OMIM Deafness, autosomal dominant 12;DEAFNESS, AUTOSOMAL DOMINANT 12 20301607;9590290 germline Genetic Alliance:Deafness%2C+autosomal+dominant+12/8133;MedGen:C1832187;OMIM:601543;Orphanet:90635 1998-05-01 11 121037374 G A 121037374 121037374 + Haplotype 7013 RCV000007428 SCV000027628 38440 TECTA NM_005422.2:c.5471G>A NP_005413.2:p.Gly1824Asp NM_005422.2:c.5471G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-05-01 OMIM OMIM Deafness, autosomal dominant 12;DEAFNESS, AUTOSOMAL DOMINANT 12 20301607;9590290 germline Genetic Alliance:Deafness%2C+autosomal+dominant+12/8133;MedGen:C1832187;OMIM:601543;Orphanet:90635 1998-05-01 12 57894189 G A 57894189 57894189 + Haplotype 189364 RCV000169765 SCV000196708 187252 MARS NM_004990.3:c.1177G>A NP_004981.2:p.Ala393Thr NM_004990.3:c.1177G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-12-02 Institute of Human Genetics, Klinikum rechts der Isar Institute of Human Genetics, Klinikum rechts der Isar Pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis germline MedGen:C0034050;SNOMED CT:10501004 2014-12-02 -12 57894189 G A 57894189 57894189 + Haplotype 189364 RCV000173000 SCV000224019 187252 MARS NM_004990.3:c.1177G>A NP_004981.2:p.Ala393Thr NM_004990.3:c.1177G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-05-07 OMIM OMIM Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C3809651;OMIM:615486 2015-05-07 +12 57894189 G A 57894189 57894189 + Haplotype 189364 RCV000173000 SCV000224019 187252 MARS NM_004990.3:c.1177G>A NP_004981.2:p.Ala393Thr NM_004990.3:c.1177G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-05-07 OMIM OMIM Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C4225400;OMIM:615486 2015-05-07 12 57906083 C T 57906083 57906083 + Haplotype 189364 RCV000169765 SCV000196708 187253 MARS NM_004990.3:c.1700C>T NP_004981.2:p.Ser567Leu NM_004990.3:c.1700C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-12-02 Institute of Human Genetics, Klinikum rechts der Isar Institute of Human Genetics, Klinikum rechts der Isar Pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis germline MedGen:C0034050;SNOMED CT:10501004 2014-12-02 -12 57906083 C T 57906083 57906083 + Haplotype 189364 RCV000173000 SCV000224019 187253 MARS NM_004990.3:c.1700C>T NP_004981.2:p.Ser567Leu NM_004990.3:c.1700C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-05-07 OMIM OMIM Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C3809651;OMIM:615486 2015-05-07 +12 57906083 C T 57906083 57906083 + Haplotype 189364 RCV000173000 SCV000224019 187253 MARS NM_004990.3:c.1700C>T NP_004981.2:p.Ser567Leu NM_004990.3:c.1700C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-05-07 OMIM OMIM Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C4225400;OMIM:615486 2015-05-07 12 80752660 A G 80752660 80752660 + Haplotype 229122 RCV000217831 SCV000272283 230419 OTOGL NM_173591.3:c.6220A>G NP_775862.3:p.Ile2074Val NM_173591.3:c.6220A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-01 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-01 12 80752661 T C 80752661 80752661 + Haplotype 229122 RCV000217831 SCV000272283 230420 OTOGL NM_173591.3:c.6221T>C NP_775862.3:p.Ile2074Thr NM_173591.3:c.6221T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-01 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-01 12 102151032 G A 102151032 102151032 - Haplotype 39094 RCV000032361 SCV000056008 47698 GNPTAB NM_024312.4:c.3392C>T NP_077288.2:p.Ser1131Phe NM_024312.4:c.3392C>T:missense variant Pathogenic pathologic 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-05-10 GeneReviews GeneReviews I cell disease;Mucolipidosis II 20301728 not provided GeneReviews:NBK1828;Genetic Alliance:Mucolipidosis+II/3706;Genetics Home Reference:mucolipidosis-ii-alpha-beta;MedGen:C2673377;OMIM:252500;Office of Rare Diseases:6749;Orphanet:576 2012-05-10 @@ -346,18 +374,26 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 12 103246700 C T 103246700 103246700 - Haplotype 402236 RCV000454199 SCV000538053 98655 PAH NM_000277.2:c.735G>A NP_000268.1:p.Val245= NM_000277.2:c.735G>A:synonymous variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-08-13 Knight Diagnostic Laboratories,Oregon Health and Sciences University Knight Diagnostic Laboratories,Oregon Health and Sciences University Phenylketonuria 20301677;21915151;24385074;24667081;25741868 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2015-08-13 12 103246712 GC G 103246713 103246713 - Haplotype 402236 RCV000454199 SCV000538053 108542 PAH NM_000277.2:c.722delG NP_000268.1:p.Arg241Profs NM_000277.2:c.722delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-08-13 Knight Diagnostic Laboratories,Oregon Health and Sciences University Knight Diagnostic Laboratories,Oregon Health and Sciences University Phenylketonuria 20301677;21915151;24385074;24667081;25741868 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2015-08-13 12 103271835 C A 103271835 103271835 - Haplotype 217885 RCV000201954 SCV000256881 214540 PAH NM_000277.2:c.353-507G>T NM_000277.2:c.353-507G>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-08-07 Mendelics Analise Genomica Mendelics Analise Genomica Phenylketonuria 20301677;21915151;24385074;24667081;2574153;9429153 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2014-08-07 -13 20763313 G T 20763313 20763313 - Haplotype 267367 RCV000258130 SCV000328260;SCV000599732 186856 GJB2 NM_004004.5:c.408C>A NP_003995.2:p.Tyr136Ter NM_004004.5:c.408C>A:nonsense Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2017-05-09 OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A;Deafness, autosomal recessive 1A 1;12560944;15633193;20301449;20301607;20497192;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2010-11-01;2017-05-09 +12 110221556 A T 110221556 110221556 - Haplotype 378057 RCV000435546 SCV000513422 472257 TRPV4 NM_021625.4:c.2486T>A NP_067638.3:p.Val829Glu NM_021625.4:c.2486T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-03-03 OMIM OMIM Avascular necrosis of femoral head, primary, 2;AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 (1 family) 27330106 germline MedGen:CN240839;OMIM:617383 2017-03-03 +12 110221557 CGCGG C 110221558 110221561 - Haplotype 378057 RCV000435546 SCV000513422 380146 TRPV4 NM_021625.4:c.2481_2484delCCGC NP_067638.3:p.Arg828Trpfs NM_021625.4:c.2481_2484delCCGC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-03-03 OMIM OMIM Avascular necrosis of femoral head, primary, 2;AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 (1 family) 27330106 germline MedGen:CN240839;OMIM:617383 2017-03-03 +13 20763313 G T 20763313 20763313 - Haplotype 267367 RCV000258130 SCV000599732 186856 GJB2 NM_004004.5:c.408C>A NP_003995.2:p.Tyr136Ter NM_004004.5:c.408C>A:nonsense Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-09 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1A 1;20301449;20301607;20497192 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2017-05-09 +13 20763313 G T 20763313 20763313 - Haplotype 446728 RCV000516165 SCV000328260 186856 GJB2 NM_004004.5:c.408C>A NP_003995.2:p.Tyr136Ter NM_004004.5:c.408C>A:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-11-01 OMIM OMIM Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A 1;12560944;15633193;20301449;20301607;20497192;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2010-11-01 13 20763380 T C 20763380 20763380 - Haplotype 177819 RCV000154452 SCV000204121 53906 GJB2 NM_004004.5:c.341A>G NP_003995.2:p.Glu114Gly NM_004004.5:c.341A>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-07-28 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 10607953;10983956;12746422;15070423;17041943;17666888;20083784;20201936;20668687;21298213;23826813;24033266;9529365 germline MedGen:CN169374 2015-07-28 -13 20763587 C T 20763587 20763587 - Haplotype 267367 RCV000258130 SCV000328260;SCV000599732 32072 GJB2 NM_004004.5:c.134G>A NP_003995.2:p.Gly45Glu NM_004004.5:c.134G>A:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2017-05-09 OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A;Deafness, autosomal recessive 1A 1;12560944;15633193;20301449;20301607;20497192;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2010-11-01;2017-05-09 +13 20763587 C T 20763587 20763587 - Haplotype 267367 RCV000258130 SCV000599732 32072 GJB2 NM_004004.5:c.134G>A NP_003995.2:p.Gly45Glu NM_004004.5:c.134G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-09 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1A 1;20301449;20301607;20497192 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2017-05-09 +13 20763587 C T 20763587 20763587 - Haplotype 446728 RCV000516165 SCV000328260 32072 GJB2 NM_004004.5:c.134G>A NP_003995.2:p.Gly45Glu NM_004004.5:c.134G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-11-01 OMIM OMIM Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A 1;12560944;15633193;20301449;20301607;20497192;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2010-11-01 13 20763642 C T 20763642 20763642 - Haplotype 177819 RCV000154452 SCV000204121 44943 GJB2 NM_004004.5:c.79G>A NP_003995.2:p.Val27Ile NM_004004.5:c.79G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-07-28 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 10607953;10983956;12746422;15070423;17041943;17666888;20083784;20201936;20668687;21298213;23826813;24033266;9529365 germline MedGen:CN169374 2015-07-28 +13 23929111 G A 23929111 23929111 - Haplotype 424657 RCV000515975 SCV000574461 327819 SACS NM_014363.5:c.1640C>T NP_055178.3:p.Pro547Leu NM_014363.5:c.1640C>T:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-07 Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Hereditary spastic paraplegia 20301682;28832565 loss of function inherited GeneReviews:NBK1509;Genetic Alliance:Hereditary+spastic+paraplegia/3383;Genetic Testing Registry (GTR):GTR000500041;Genetic Testing Registry (GTR):GTR000500218;Genetic Testing Registry (GTR):GTR000500428;Genetic Testing Registry (GTR):GTR000508756;Genetic Testing Registry (GTR):GTR000525862;Genetic Testing Registry (GTR):GTR000525863;Genetic Testing Registry (GTR):GTR000528277;Genetic Testing Registry (GTR):GTR000529007;MedGen:C0037773;OMIM:PS303350;Office of Rare Diseases:6637;Orphanet:ORPHA685;SNOMED CT:39912006 2017-03-07 +13 23929117 C A 23929117 23929117 - Haplotype 424657 RCV000515975 SCV000574461 411584 SACS NM_014363.5:c.1634G>T NP_055178.3:p.Trp545Leu NM_014363.5:c.1634G>T:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-07 Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Hereditary spastic paraplegia 20301682;28832565 loss of function inherited GeneReviews:NBK1509;Genetic Alliance:Hereditary+spastic+paraplegia/3383;Genetic Testing Registry (GTR):GTR000500041;Genetic Testing Registry (GTR):GTR000500218;Genetic Testing Registry (GTR):GTR000500428;Genetic Testing Registry (GTR):GTR000508756;Genetic Testing Registry (GTR):GTR000525862;Genetic Testing Registry (GTR):GTR000525863;Genetic Testing Registry (GTR):GTR000528277;Genetic Testing Registry (GTR):GTR000529007;MedGen:C0037773;OMIM:PS303350;Office of Rare Diseases:6637;Orphanet:ORPHA685;SNOMED CT:39912006 2017-03-07 13 52515247 C T 52515247 52515247 - Haplotype 3863 RCV000004067 SCV000024233 38430 ATP7B NM_000053.3:c.3526G>A NP_000044.2:p.Gly1176Arg NM_000053.3:c.3526G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-05-01 OMIM OMIM Wilson disease;WILSON DISEASE 15845031;18506894;20301685;20482602;27854360 loss of function germline GeneReviews:NBK1512;Genetic Alliance:Wilson+disease/7506;Genetic Testing Registry (GTR):GTR000260623;Genetic Testing Registry (GTR):GTR000501125;Genetic Testing Registry (GTR):GTR000503091;Genetic Testing Registry (GTR):GTR000507952;Genetic Testing Registry (GTR):GTR000508735;Genetic Testing Registry (GTR):GTR000509712;Genetic Testing Registry (GTR):GTR000515523;Genetic Testing Registry (GTR):GTR000520457;Genetic Testing Registry (GTR):GTR000521900;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528632;Genetic Testing Registry (GTR):GTR000528928;Genetic Testing Registry (GTR):GTR000530035;Genetic Testing Registry (GTR):GTR000530097;Genetic Testing Registry (GTR):GTR000552345;Genetic Testing Registry (GTR):GTR000553937;Genetics Home Reference:wilson-disease;MedGen:C0019202;OMIM:277900;Office of Rare Diseases:7893;Orphanet:905;SNOMED CT:88518009 2005-05-01 13 52515330 A G 52515330 52515330 - Haplotype 3863 RCV000004067 SCV000024233 18902 ATP7B NM_000053.3:c.3443T>C NP_000044.2:p.Ile1148Thr NM_000053.3:c.3443T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-05-01 OMIM OMIM Wilson disease;WILSON DISEASE 15845031;18506894;20301685;20482602;27854360 loss of function germline GeneReviews:NBK1512;Genetic Alliance:Wilson+disease/7506;Genetic Testing Registry (GTR):GTR000260623;Genetic Testing Registry (GTR):GTR000501125;Genetic Testing Registry (GTR):GTR000503091;Genetic Testing Registry (GTR):GTR000507952;Genetic Testing Registry (GTR):GTR000508735;Genetic Testing Registry (GTR):GTR000509712;Genetic Testing Registry (GTR):GTR000515523;Genetic Testing Registry (GTR):GTR000520457;Genetic Testing Registry (GTR):GTR000521900;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528632;Genetic Testing Registry (GTR):GTR000528928;Genetic Testing Registry (GTR):GTR000530035;Genetic Testing Registry (GTR):GTR000530097;Genetic Testing Registry (GTR):GTR000552345;Genetic Testing Registry (GTR):GTR000553937;Genetics Home Reference:wilson-disease;MedGen:C0019202;OMIM:277900;Office of Rare Diseases:7893;Orphanet:905;SNOMED CT:88518009 2005-05-01 13 103701773 G A 103701773 103701773 - Haplotype 8241 RCV000008724 SCV000028933 38442 SLC10A2 NM_000452.2:c.785C>T NP_000443.1:p.Thr262Met NM_000452.2:c.785C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-04-15 OMIM OMIM Bile acid malabsorption, primary;BILE ACID MALABSORPTION, PRIMARY 9109432 germline Genetic Alliance:Bile+acid+malabsorption%2C+primary/7818;MedGen:C2750087;OMIM:613291 1997-04-15 13 103703640 A G 103703640 103703640 - Haplotype 8241 RCV000008724 SCV000028933 23280 SLC10A2 NM_000452.2:c.728T>C NP_000443.1:p.Leu243Pro NM_000452.2:c.728T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-04-15 OMIM OMIM Bile acid malabsorption, primary;BILE ACID MALABSORPTION, PRIMARY 9109432 germline Genetic Alliance:Bile+acid+malabsorption%2C+primary/7818;MedGen:C2750087;OMIM:613291 1997-04-15 -14 29237048 C G 29237048 29237048 + Phase unknown 189607 RCV000170068 SCV000222377 169055 FOXG1 NM_005249.4:c.563C>G NP_005240.3:p.Ala188Gly NM_005249.4:c.563C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-02-15 RettBASE RettBASE not provided;Not provided de novo MedGen:CN221809 2011-02-15 -14 29237129 TC CT 29237129 29237130 + Phase unknown 189607 RCV000170068 SCV000222377 187407 FOXG1 NM_005249.4:c.644_645delTCinsCT NP_005240.3:p.Phe215Ser NM_005249.4:c.644_645delTCinsCT:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-02-15 RettBASE RettBASE not provided;Not provided de novo MedGen:CN221809 2011-02-15 -14 32031331 G A 32031331 32031331 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 15046 NUBPL NM_025152.2:c.166G>A NP_079428.2:p.Gly56Arg NM_025152.2:c.166G>A:missense variant;NR_120408.1:n.221G>A:non-coding transcript variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2014-04-09 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-05-02;2014-04-09 -14 32319298 T C 32319298 32319298 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 59458 NUBPL NM_025152.2:c.815-27T>C NM_025152.2:c.815-27T>C:intron variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2014-04-09 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-05-02;2014-04-09 +14 23895007 G A 23895007 23895007 - Haplotype 487487 RCV000015167 SCV000035424 29150 MYH7 NM_000257.3:c.2183C>T NP_000248.2:p.Ala728Val NM_000257.3:c.2183C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2001-06-01 OMIM OMIM Familial hypertrophic cardiomyopathy 1;CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 11424919;20301559;20301725;21267010;23788249;25173338;25356965;27854360 germline GeneReviews:NBK1768;Genetic Alliance:Familial+hypertrophic+cardiomyopathy+1/8382;MedGen:C3495498;OMIM:192600 2001-06-01 +14 23896866 C T 23896866 23896866 - Haplotype 487487 RCV000015167 SCV000035424 29130 MYH7 NM_000257.3:c.1816G>A NP_000248.2:p.Val606Met NM_000257.3:c.1816G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2001-06-01 OMIM OMIM Familial hypertrophic cardiomyopathy 1;CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 11424919;20301559;20301725;21267010;23788249;25173338;25356965;27854360 germline GeneReviews:NBK1768;Genetic Alliance:Familial+hypertrophic+cardiomyopathy+1/8382;MedGen:C3495498;OMIM:192600 2001-06-01 +14 29237048 C G 29237048 29237048 + Phase unknown 189607 RCV000170068 SCV000222377 169055 FOXG1 NM_005249.4:c.563C>G NP_005240.3:p.Ala188Gly NM_005249.4:c.563C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-02-15 RettBASE RettBASE not provided;Not provided de novo MedGen:CN517202 2011-02-15 +14 29237129 TC CT 29237129 29237130 + Phase unknown 189607 RCV000170068 SCV000222377 187407 FOXG1 NM_005249.4:c.644_645delTCinsCT NP_005240.3:p.Phe215Ser NM_005249.4:c.644_645delTCinsCT:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-02-15 RettBASE RettBASE not provided;Not provided de novo MedGen:CN517202 2011-02-15 +14 32031331 G A 32031331 32031331 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 15046 NUBPL NM_025152.2:c.166G>A NP_079428.2:p.Gly56Arg NM_025152.2:c.166G>A:missense variant;NR_120408.1:n.221G>A:non-coding transcript variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2014-04-09 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-04-23;2014-04-09 +14 32319298 T C 32319298 32319298 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 59458 NUBPL NM_025152.2:c.815-27T>C NM_025152.2:c.815-27T>C:intron variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2014-04-09 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-04-23;2014-04-09 14 51378443 AGTAC A 51378444 51378447 - Haplotype 38368 RCV000020505 SCV000040956 46929 PYGL NM_002863.4:c.1969+1_1969+4delGTAC NM_002863.4:c.1969+1_1969+4delGTAC:intron variant Pathogenic pathologic 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-05-17 GeneReviews GeneReviews Glycogen storage disease, type VI;Glycogen Storage Disease Type VI 17705025;20301760 not provided GeneReviews:NBK5941;Genetic Alliance:Glycogen+Storage+Disease+Type+6/3126;MedGen:C0017925;OMIM:232700;Office of Rare Diseases:6529;Orphanet:369;SNOMED CT:237971004;SNOMED CT:29291001 2011-05-17 14 51378448 CTTTTT AAAAAG 51378448 51378453 - Haplotype 38368 RCV000020505 SCV000040956 46930 PYGL NM_002863.4:c.1964_1969invAAAAAG NP_002854.3:p.Glu655_Lys656del Pathogenic pathologic 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-05-17 GeneReviews GeneReviews Glycogen storage disease, type VI;Glycogen Storage Disease Type VI 17705025;20301760 not provided GeneReviews:NBK5941;Genetic Alliance:Glycogen+Storage+Disease+Type+6/3126;MedGen:C0017925;OMIM:232700;Office of Rare Diseases:6529;Orphanet:369;SNOMED CT:237971004;SNOMED CT:29291001 2011-05-17 14 75570544 C A 75570544 75570544 - Haplotype 242987 RCV000234965 SCV000292296 248590 NEK9 NM_033116.5:c.1731+1G>T NM_033116.5:c.1731+1G>T:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-11 OMIM OMIM Nevus comedonicus;NEVUS COMEDONICUS, SOMATIC 27153399 somatic MedGen:C0265987;OMIM:617025 2016-07-11 @@ -370,14 +406,16 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 14 94849345 GAGA G 94849346 94849348 - Haplotype 17972 RCV000019572 SCV000039869 321860 SERPINA1 NM_001127701.1:c.227_229delTCT NP_001121173.1:p.Phe76del NM_001127701.1:c.227_229delTCT:inframe_variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-15 OMIM OMIM PI M(NICHINAN);PI M(NICHINAN) 2309708;6162902 germline OMIM:107400.0017 2016-07-15 14 94849385 G T 94849385 94849385 - Haplotype 440501 RCV000508836 SCV000605936 434128 SERPINA1 NM_001127701.1:c.190C>A NP_001121173.1:p.Gln64Lys NM_001127701.1:c.190C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-11-13 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency;Alpha-1 Antitrypsin Deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2015-11-13 14 94849388 G A 94849388 94849388 - Haplotype 219354 RCV000205893 SCV000259189 33013 SERPINA1 NM_001127701.1:c.187C>T NP_001121173.1:p.Arg63Cys NM_001127701.1:c.187C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-07-23 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2015-07-23 -15 40763815 C G 40763815 40763815 + Haplotype 2338 RCV000002428 SCV000022586 17377 CHST14 NM_130468.3:c.403C>G NP_569735.1:p.Arg135Gly NM_130468.3:c.403C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-12-01 OMIM OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007;20004762 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 2009-12-01 -15 40763822 T A 40763822 40763822 + Haplotype 2338 RCV000002428 SCV000022586 38426 CHST14 NM_130468.3:c.410T>A NP_569735.1:p.Leu137Gln NM_130468.3:c.410T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-12-01 OMIM OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007;20004762 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 2009-12-01 +15 40763815 C G 40763815 40763815 + Haplotype 446172 RCV000002428 SCV000022586 439519 CHST14 NM_130468.3:c.403C>G NP_569735.1:p.Arg135Gly NM_130468.3:c.403C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-12-01 OMIM OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007;20004762 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 2009-12-01 +15 40763822 T A 40763822 40763822 + Haplotype 446172 RCV000002428 SCV000022586 439520 CHST14 NM_130468.3:c.410T>A NP_569735.1:p.Leu137Gln NM_130468.3:c.410T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-12-01 OMIM OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007;20004762 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 2009-12-01 +15 49037145 CGTT C 49037146 49037148 - Haplotype 446758 RCV000077752 SCV000109558 97524 CEP152 Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-05-01 OMIM OMIM Primary autosomal recessive microcephaly 9;MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 20301772;22775483 germline GeneReviews:NBK9587;GeneTests:279904;MedGen:C3553886;OMIM:614852;Orphanet:2512 2013-05-01 +15 49048296 A G 49048296 49048296 - Haplotype 446758 RCV000077752 SCV000109558 97321 CEP152 NM_001194998.1:c.3149T>C NP_001181927.1:p.Leu1050Pro NM_001194998.1:c.3149T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-05-01 OMIM OMIM Primary autosomal recessive microcephaly 9;MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 20301772;22775483 germline GeneReviews:NBK9587;GeneTests:279904;MedGen:C3553886;OMIM:614852;Orphanet:2512 2013-05-01 15 50782626 T G 50782626 50782626 + Haplotype 161994 RCV000149419 SCV000192010 171716 USP8 NM_005154.4:c.2138T>G NP_005145.3:p.Leu713Arg NM_001128610.2:c.2138T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-11-18 Institute of Human Genetics, Klinikum rechts der Isar Institute of Human Genetics, Klinikum rechts der Isar Pituitary dependent hypercortisolism;Pituitary dependent hypercortisolism 22720333 somatic GeneReviews:NBK97965;Genetic Alliance:Pituitary+dependent+hypercortisolism/9118;MedGen:C0221406;OMIM:219090;Orphanet:96253;SNOMED CT:190502001 2014-11-18 15 50782638 A G 50782638 50782638 + Haplotype 161994 RCV000149419 SCV000192010 171717 USP8 NM_005154.4:c.2150A>G NP_005145.3:p.Tyr717Cys NM_001128610.2:c.2150A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-11-18 Institute of Human Genetics, Klinikum rechts der Isar Institute of Human Genetics, Klinikum rechts der Isar Pituitary dependent hypercortisolism;Pituitary dependent hypercortisolism 22720333 somatic GeneReviews:NBK97965;Genetic Alliance:Pituitary+dependent+hypercortisolism/9118;MedGen:C0221406;OMIM:219090;Orphanet:96253;SNOMED CT:190502001 2014-11-18 15 51250689 G A 51250689 51250689 + Haplotype 224506 RCV000210065 SCV000265991 226246 AP4E1 NM_007347.4:c.1549G>A NP_031373.2:p.Val517Ile NM_007347.4:c.1549G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-03-16 OMIM OMIM Stuttering, familial persistent 1;STUTTERING, FAMILIAL PERSISTENT, 1 23239121;26544806 germline Gene:100049541;MedGen:C3489627;OMIM:184450 2016-03-16 15 51289577 G A 51289577 51289577 + Haplotype 224506 RCV000210065 SCV000265991 226245 AP4E1 NM_007347.4:c.2401G>A NP_031373.2:p.Glu801Lys NM_007347.4:c.2401G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-03-16 OMIM OMIM Stuttering, familial persistent 1;STUTTERING, FAMILIAL PERSISTENT, 1 23239121;26544806 germline Gene:100049541;MedGen:C3489627;OMIM:184450 2016-03-16 -15 72643548 C T 72643548 72643548 - Haplotype 3923 RCV000004129 SCV000024295 38431 HEXA NM_000520.5:c.598G>A NP_000511.2:p.Val200Met NM_000520.5:c.598G>A:missense variant;NR_134869.1:n.1099G>A:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1996-07-01 OMIM OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222;2976595;8198136;8659543 germline MedGen:C1848916 1996-07-01 -15 72643572 C G 72643572 72643572 - Haplotype 3923 RCV000004129 SCV000024295 18962 HEXA NM_000520.5:c.574G>C NP_000511.2:p.Val192Leu NM_000520.5:c.574G>C:missense variant;NR_134869.1:n.1075G>C:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1996-07-01 OMIM OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222;2976595;8198136;8659543 germline MedGen:C1848916 1996-07-01 +15 72643548 C T 72643548 72643548 - Haplotype 446267 RCV000004129 SCV000024295 38431 HEXA NM_000520.5:c.598G>A NP_000511.2:p.Val200Met NM_000520.5:c.598G>A:missense variant;NR_134869.1:n.1099G>A:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1996-07-01 OMIM OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222;2976595;8198136;8659543 germline MedGen:C1848916 1996-07-01 +15 72643572 C G 72643572 72643572 - Haplotype 446267 RCV000004129 SCV000024295 18962 HEXA NM_000520.5:c.574G>C NP_000511.2:p.Val192Leu NM_000520.5:c.574G>C:missense variant;NR_134869.1:n.1075G>C:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1996-07-01 OMIM OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222;2976595;8198136;8659543 germline MedGen:C1848916 1996-07-01 15 89866657 C G 89866657 89866657 - Phase unknown 157526 RCV000144870 SCV000172142 28546 POLG NM_002693.2:c.2243G>C NP_002684.1:p.Trp748Ser NM_002693.2:c.2243G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2013-11-01 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547;15824347;20301532;22189570;25025039;28812649 not applicable GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 15 89870237 C G 89870237 89870237 - Phase unknown 157526 RCV000144870 SCV000172142 28549 POLG NM_002693.2:c.1491G>C NP_002684.1:p.Gln497His NM_002693.2:c.1491G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2013-11-01 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547;15824347;20301532;22189570;25025039;28812649 not applicable GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 16 223509 C G 223509 223509 + Haplotype 375745 RCV000417222 SCV000503054 362631 HBA2 NM_000517.4:c.339C>G NP_000508.1:p.His113Gln NM_000517.4:c.339C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-12-29 GeneReviews GeneReviews alpha Thalassemia 20301608;25052315;8735302 germline GeneReviews:NBK1435;Genetic Alliance:Alpha-Thalassemia/333;MedGen:C0002312;OMIM:604131;Orphanet:846;SNOMED CT:68913001 2016-12-29 @@ -401,25 +439,27 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 16 15815278 C A 15815278 15815278 - Haplotype 14131 RCV000015192 SCV000035449 75290 MYH11 NM_001040113.1:c.4599+1G>T NM_001040113.1:c.4599+1G>T:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-03-01 OMIM OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 14722581;16444274;20301299;23788249;24882528;25173340;25356965;27854360 germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 2006-03-01 16 15820739 C A 15820739 15820739 - Haplotype 440783 RCV000015194 SCV000035451 29173 MYH11 NM_001040114.1:c.3845G>T NP_001035203.1:p.Arg1282Leu NM_001040113.1:c.3845G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2007-10-15 OMIM OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 17666408;20301299;23788249;24882528;25173340;25356965;27854360 germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 2007-10-15 16 15820772 A G 15820772 15820772 - Haplotype 440783 RCV000015194 SCV000035451 94510 MYH11 NM_001040113.1:c.3812T>C NP_001035202.1:p.Leu1271Pro NM_001040113.1:c.3812T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2007-10-15 OMIM OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 17666408;20301299;23788249;24882528;25173340;25356965;27854360 germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 2007-10-15 -16 30097630 C T 30097630 30097630 - Haplotype 188053 RCV000167863 SCV000218510 255673 TBX6 NM_004608.3:c.1227G>A NP_004599.2:p.Pro409= NM_004608.3:c.1227G>A:synonymous variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-22 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 25564734 germline Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 -16 30102802 T C 30102802 30102802 - Haplotype 188053 RCV000167863 SCV000218510 418555 TBX6 NM_004608.3:c.-48-240A>G NM_004608.3:c.-48-240A>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-22 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 25564734 germline Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 -16 30103160 C A 30103160 30103160 - Haplotype 188053 RCV000167863 SCV000218510 185945 TBX6 NM_004608.3:c.-49+34G>T NM_004608.3:c.-49+34G>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-22 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 25564734 germline Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 -16 47730319 T C 47730319 47730319 + Haplotype 13621 RCV000014591 SCV000034845 28660 PHKB NM_000293.2:c.2923T>C NP_000284.1:p.Tyr975His NM_000293.2:c.2923T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-07-01 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C1849812;OMIM:261750;Orphanet:79240 1997-07-01 -16 47730322 G T 47730322 47730322 + Haplotype 13621 RCV000014591 SCV000034845 38463 PHKB NM_000293.2:c.2926G>T NP_000284.1:p.Glu976Ter NM_000293.2:c.2926G>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-07-01 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C1849812;OMIM:261750;Orphanet:79240 1997-07-01 +16 30097630 C T 30097630 30097630 - Haplotype 188053 RCV000167863 SCV000218510 255673 TBX6 NM_004608.3:c.1227G>A NP_004599.2:p.Pro409= NM_004608.3:c.1227G>A:synonymous variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-22 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 20301771;25564734 germline GeneReviews:NBK8828;Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 +16 30102802 T C 30102802 30102802 - Haplotype 188053 RCV000167863 SCV000218510 418555 TBX6 NM_004608.3:c.-48-240A>G NM_004608.3:c.-48-240A>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-22 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 20301771;25564734 germline GeneReviews:NBK8828;Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 +16 30103160 C A 30103160 30103160 - Haplotype 188053 RCV000167863 SCV000218510 185945 TBX6 NM_004608.3:c.-49+34G>T NM_004608.3:c.-49+34G>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-22 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 20301771;25564734 germline GeneReviews:NBK8828;Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 +16 47730319 T C 47730319 47730319 + Haplotype 13621 RCV000014591 SCV000034845 28660 PHKB NM_000293.2:c.2923T>C NP_000284.1:p.Tyr975His NM_000293.2:c.2923T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-07-01 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C0543514;OMIM:261750;Orphanet:79240 1997-07-01 +16 47730322 G T 47730322 47730322 + Haplotype 13621 RCV000014591 SCV000034845 38463 PHKB NM_000293.2:c.2926G>T NP_000284.1:p.Glu976Ter NM_000293.2:c.2926G>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-07-01 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C0543514;OMIM:261750;Orphanet:79240 1997-07-01 16 56902267 C T 56902267 56902267 + Haplotype 8596 RCV000009127 SCV000029344 23635 SLC12A3 NM_000339.2:c.488C>T NP_000330.2:p.Thr163Met NM_000339.2:c.488C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-09-26 OMIM OMIM Familial hypokalemia-hypomagnesemia;GITELMAN SYNDROME 17000984;21343949 germline Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 2006-09-26 16 56928506 G A 56928506 56928506 + Haplotype 8596 RCV000009127 SCV000029344 38443 SLC12A3 NM_000339.2:c.2612G>A NP_000330.2:p.Arg871His NM_000339.2:c.2612G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-09-26 OMIM OMIM Familial hypokalemia-hypomagnesemia;GITELMAN SYNDROME 17000984;21343949 germline Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 2006-09-26 16 67976470 G A 67976470 67976470 - Haplotype 3667 RCV000003852 SCV000024017 38429 LCAT NM_000229.1:c.544C>T NP_000220.1:p.Arg182Cys NM_000229.1:c.544C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-02-01 OMIM OMIM Norum disease;LCAT DEFICIENCY 8432868 germline Genetic Alliance:Norum+disease/5271;MedGen:C0023195;OMIM:245900;Office of Rare Diseases:4011;Orphanet:650;Orphanet:79293 1993-02-01 16 67976842 C T 67976842 67976842 - Haplotype 3667 RCV000003852 SCV000024017 18706 LCAT NM_000229.1:c.349G>A NP_000220.1:p.Ala117Thr NM_000229.1:c.349G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-02-01 OMIM OMIM Norum disease;LCAT DEFICIENCY 8432868 germline Genetic Alliance:Norum+disease/5271;MedGen:C0023195;OMIM:245900;Office of Rare Diseases:4011;Orphanet:650;Orphanet:79293 1993-02-01 16 88786582 G A 88786582 88786582 - Haplotype 55809 RCV000049235 SCV000077488 70465 PIEZO1 NM_001142864.3:c.6059C>T NP_001136336.2:p.Ala2020Val NM_001142864.3:c.6059C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-05-09 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS 23479567;9718354 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 16 88793552 G A 88793552 88793552 - Haplotype 55809 RCV000049235 SCV000077488 70466 PIEZO1 NM_001142864.3:c.3350C>T NP_001136336.2:p.Ser1117Leu NM_001142864.3:c.3350C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-05-09 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS 23479567;9718354 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 -16 88800060 C T 88800060 88800060 - Haplotype 55813 RCV000049238 SCV000077491 70476 PIEZO1 NM_001142864.3:c.2423G>A NP_001136336.2:p.Arg808Gln NM_001142864.3:c.2423G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-07-02 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-07-02 -16 88800139 C T 88800139 88800139 - Haplotype 55813 RCV000049238 SCV000077491 70475 PIEZO1 NM_001142864.3:c.2344G>A NP_001136336.2:p.Gly782Ser NM_001142864.3:c.2344G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-07-02 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-07-02 -16 88801252 G C 88801252 88801252 - Haplotype 55813 RCV000049238 SCV000077491 70469 PIEZO1 NM_001142864.3:c.1848+31C>G NM_001142864.3:c.1848+31C>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-07-02 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-07-02 -17 7918017 G C 7918017 7918017 + Haplotype 9354 RCV000009948 SCV000030169 24393 GUCY2D NM_000180.3:c.2511G>C NP_000171.1:p.Glu837Asp NM_000180.3:c.2511G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-01 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01 -17 7918017 G C 7918017 7918017 + Haplotype 9356 RCV000009950 SCV000030171 24393 GUCY2D NM_000180.3:c.2511G>C NP_000171.1:p.Glu837Asp NM_000180.3:c.2511G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-08-01 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 9683616 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 1998-08-01 -17 7918018 C A 7918018 7918018 + Haplotype 9354 RCV000009948 SCV000030169 38445 GUCY2D NM_000180.3:c.2512C>A NP_000171.1:p.Arg838Ser NM_000180.3:c.2512C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-01 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01 -17 7918018 C T 7918018 7918018 + Haplotype 9356 RCV000009950 SCV000030171 24394 GUCY2D NM_000180.3:c.2512C>T NP_000171.1:p.Arg838Cys NM_000180.3:c.2512C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-08-01 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 9683616 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 1998-08-01 -17 7918022 C T 7918022 7918022 + Haplotype 9356 RCV000009950 SCV000030171 38391 GUCY2D NM_000180.3:c.2516C>T NP_000171.1:p.Thr839Met NM_000180.3:c.2516C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-08-01 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 9683616 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 1998-08-01 +16 88800060 C T 88800060 88800060 - Haplotype 55813 RCV000049238 SCV000077491 70476 PIEZO1 NM_001142864.3:c.2423G>A NP_001136336.2:p.Arg808Gln NM_001142864.3:c.2423G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-05-09 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 +16 88800139 C T 88800139 88800139 - Haplotype 55813 RCV000049238 SCV000077491 70475 PIEZO1 NM_001142864.3:c.2344G>A NP_001136336.2:p.Gly782Ser NM_001142864.3:c.2344G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-05-09 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 +16 88801252 G C 88801252 88801252 - Haplotype 55813 RCV000049238 SCV000077491 70469 PIEZO1 NM_001142864.3:c.1848+31C>G NM_001142864.3:c.1848+31C>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-05-09 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 +17 7123838 C T 7123838 7123838 + Haplotype 441528 RCV000001698 SCV000021854 16670 ACADVL NM_000018.3:c.194C>T NP_000009.1:p.Pro65Leu NM_000018.3:c.194C>T:missense variant;NM_001033859.2:c.139-85C>T:intron variant;NM_001270448.1:c.-35C>T:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-01 OMIM OMIM Very long chain acyl-CoA dehydrogenase deficiency;VLCAD DEFICIENCY 10790204;20301763 germline GeneReviews:NBK6816;Genetic Alliance:VLCAD+deficiency/7410;MedGen:C3887523;OMIM:201475;Office of Rare Diseases:5508;Orphanet:26793;SNOMED CT:237996001;SNOMED CT:237997005 2000-01-01 +17 7125387 A C 7125387 7125387 + Haplotype 441528 RCV000001698 SCV000021854 38417 ACADVL NM_000018.3:c.739A>C NP_000009.1:p.Lys247Gln NM_000018.3:c.739A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-01 OMIM OMIM Very long chain acyl-CoA dehydrogenase deficiency;VLCAD DEFICIENCY 10790204;20301763 germline GeneReviews:NBK6816;Genetic Alliance:VLCAD+deficiency/7410;MedGen:C3887523;OMIM:201475;Office of Rare Diseases:5508;Orphanet:26793;SNOMED CT:237996001;SNOMED CT:237997005 2000-01-01 +17 7918017 G C 7918017 7918017 + Haplotype 453243 RCV000009948 SCV000030169 24393 GUCY2D NM_000180.3:c.2511G>C NP_000171.1:p.Glu837Asp NM_000180.3:c.2511G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-01 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01 +17 7918017 G C 7918017 7918017 + Haplotype 453244 RCV000009950 SCV000030171 24393 GUCY2D NM_000180.3:c.2511G>C NP_000171.1:p.Glu837Asp NM_000180.3:c.2511G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-12-15 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10951519 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2017-12-15 +17 7918018 C A 7918018 7918018 + Haplotype 453243 RCV000009948 SCV000030169 38445 GUCY2D NM_000180.3:c.2512C>A NP_000171.1:p.Arg838Ser NM_000180.3:c.2512C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-01 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01 +17 7918018 C T 7918018 7918018 + Haplotype 453244 RCV000009950 SCV000030171 24394 GUCY2D NM_000180.3:c.2512C>T NP_000171.1:p.Arg838Cys NM_000180.3:c.2512C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-12-15 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10951519 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2017-12-15 +17 7918022 C T 7918022 7918022 + Haplotype 453244 RCV000009950 SCV000030171 38391 GUCY2D NM_000180.3:c.2516C>T NP_000171.1:p.Thr839Met NM_000180.3:c.2516C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-12-15 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10951519 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2017-12-15 17 17118608 G TC 17118608 17118608 - Haplotype 3377 RCV000003544 SCV000023702 243924 FLCN NM_144997.5:c.1323delCinsGA NP_659434.2:p.His442Thrfs NM_144997.5:c.1323delCinsGA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-09-01 OMIM OMIM Multiple fibrofolliculomas;BIRT-HOGG-DUBE SYNDROME 19320655;19562744;20301695;24319509;25394175 germline GeneReviews:NBK1522;Genetic Alliance:Multiple+fibrofolliculomas/8920;Genetics Home Reference:birt-hogg-dube-syndrome;MedGen:C0346010;OMIM:135150;Office of Rare Diseases:2322;Orphanet:122;SNOMED CT:110985001 2009-09-01 17 17118626 AAACTCTGTAAC A 17118627 17118637 - Haplotype 3377 RCV000003544 SCV000023702 18416 FLCN NM_144997.5:c.1301-7_1304delGTTACAGAGTT NM_144997.5:c.1301-7_1304delGTTACAGAGTT:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-09-01 OMIM OMIM Multiple fibrofolliculomas;BIRT-HOGG-DUBE SYNDROME 19320655;19562744;20301695;24319509;25394175 germline GeneReviews:NBK1522;Genetic Alliance:Multiple+fibrofolliculomas/8920;Genetics Home Reference:birt-hogg-dube-syndrome;MedGen:C0346010;OMIM:135150;Office of Rare Diseases:2322;Orphanet:122;SNOMED CT:110985001 2009-09-01 17 19561110 G A 19561110 19561110 + Haplotype 438264 RCV000504796 SCV000598618 260161 ALDH3A2 NM_000382.2:c.733G>A NP_000373.1:p.Asp245Asn NM_000382.2:c.733G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Rizzo Lab,University of Nebraska Medical Center Rizzo Lab,University of Nebraska Medical Center Sjögren-Larsson syndrome;Ichthyosis;Spasticity;Intellectual disability;Sjogren-Larsson syndrome 10577908 germline Genetic Alliance:Sjogren-Larsson+syndrome/6627;Genetics Home Reference:sjogren-larsson-syndrome;MedGen:C0037231;OMIM:270200;Office of Rare Diseases:7654;Orphanet:816;SNOMED CT:111303009 2017-06-01 @@ -427,8 +467,10 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 17 19564543 CT C 19564547 19564547 + Haplotype 438264 RCV000504796 SCV000598618 431887 ALDH3A2 NM_000382.2:c.906delT NP_000373.1:p.Phe302Leufs NM_000382.2:c.906delT:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Rizzo Lab,University of Nebraska Medical Center Rizzo Lab,University of Nebraska Medical Center Sjögren-Larsson syndrome;Ichthyosis;Spasticity;Intellectual disability;Sjogren-Larsson syndrome 10577908 germline Genetic Alliance:Sjogren-Larsson+syndrome/6627;Genetics Home Reference:sjogren-larsson-syndrome;MedGen:C0037231;OMIM:270200;Office of Rare Diseases:7654;Orphanet:816;SNOMED CT:111303009 2017-06-01 17 19564550 T G 19564550 19564550 + Haplotype 438264 RCV000504796 SCV000598618 431888 ALDH3A2 NM_000382.2:c.909T>G NP_000373.1:p.Gly303= NM_000382.2:c.909T>G:synonymous variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Rizzo Lab,University of Nebraska Medical Center Rizzo Lab,University of Nebraska Medical Center Sjögren-Larsson syndrome;Ichthyosis;Spasticity;Intellectual disability;Sjogren-Larsson syndrome 10577908 germline Genetic Alliance:Sjogren-Larsson+syndrome/6627;Genetics Home Reference:sjogren-larsson-syndrome;MedGen:C0037231;OMIM:270200;Office of Rare Diseases:7654;Orphanet:816;SNOMED CT:111303009 2017-06-01 17 29577934 TA T 29577935 29577935 + Haplotype 217112 RCV000200907 SCV000255592 213715 NF1 NM_001042492.2:c.4110+1798del NM_000267.3:c.4110+1798del:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 0000-00-00 Medical Genomics Laboratory,Department of Genetics UAB Medical Genomics Laboratory,Department of Genetics UAB Neurofibromatosis, type 1;Neurofibromatosis, type 1 15604628;17636453;20065170;20301288;20301471;24893135;26189818 loss of function unknown GeneReviews:NBK1109;Genetic Alliance:Neurofibromatosis+type+1/5174;Genetic Testing Registry (GTR):GTR000260605;Genetic Testing Registry (GTR):GTR000335545;Genetic Testing Registry (GTR):GTR000500115;Genetic Testing Registry (GTR):GTR000500672;Genetic Testing Registry (GTR):GTR000500881;Genetic Testing Registry (GTR):GTR000500970;Genetic Testing Registry (GTR):GTR000500971;Genetic Testing Registry (GTR):GTR000500972;Genetic Testing Registry (GTR):GTR000501087;Genetic Testing Registry (GTR):GTR000501088;Genetic Testing Registry (GTR):GTR000509686;Genetic Testing Registry (GTR):GTR000510677;Genetic Testing Registry (GTR):GTR000510679;Genetic Testing Registry (GTR):GTR000511186;Genetic Testing Registry (GTR):GTR000511188;Genetic Testing Registry (GTR):GTR000514608;Genetic Testing Registry (GTR):GTR000514913;Genetic Testing Registry (GTR):GTR000514981;Genetic Testing Registry (GTR):GTR000515566;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520393;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000521399;Genetic Testing Registry (GTR):GTR000521505;Genetic Testing Registry (GTR):GTR000521546;Genetic Testing Registry (GTR):GTR000522322;Genetic Testing Registry (GTR):GTR000528459;Genetic Testing Registry (GTR):GTR000528529;Genetic Testing Registry (GTR):GTR000528533;Genetic Testing Registry (GTR):GTR000528913;Genetic Testing Registry (GTR):GTR000528930;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000529068;Genetic Testing Registry (GTR):GTR000551630;Genetic Testing Registry (GTR):GTR000552183;Genetic Testing Registry (GTR):GTR000552305;Genetic Testing Registry (GTR):GTR000556576;MedGen:C0027831;OMIM:162200;OMIM:613113.0001;OMIM:613113.0002;OMIM:613113.0003;OMIM:613113.0004;OMIM:613113.0005;OMIM:613113.0006;OMIM:613113.0007;OMIM:613113.0008;OMIM:613113.0009;OMIM:613113.0012;OMIM:613113.0013;OMIM:613113.0014;OMIM:613113.0015;OMIM:613113.0016;OMIM:613113.0021;OMIM:613113.0022;OMIM:613113.0023;OMIM:613113.0024;OMIM:613113.0025;OMIM:613113.0026;OMIM:613113.0027;OMIM:613113.0029;OMIM:613113.0030;OMIM:613113.0031;OMIM:613113.0032;OMIM:613113.0037;OMIM:613113.0038;OMIM:613113.0040;OMIM:613113.0041;OMIM:613113.0042;OMIM:613113.0043;OMIM:613113.0044;OMIM:613113.0046;Office of Rare Diseases:7866;Orphanet:636;Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília:R34;SNOMED CT:92824003 0000-00-00 -17 41247892 T C 41247892 41247892 - Haplotype 236265 RCV000225499 SCV000282252 46245 BRCA1 NM_007294.3:c.641A>G NP_009225.1:p.Asp214Gly NM_007294.3:c.641A>G:missense variant;NR_027676.1:n.777A>G:non-coding transcript variant Benign benign 0 0 0 0 1 reviewed by expert panel reviewed by expert panel 2016-04-15 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;Genetics Home Reference:ovarian-cancer;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 -17 41247941 T G 41247941 41247941 - Haplotype 236265 RCV000225499 SCV000282252 46242 BRCA1 NM_007294.3:c.594-2A>C NM_007294.3:c.594-2A>C:splice acceptor variant Benign benign 0 0 0 0 1 reviewed by expert panel reviewed by expert panel 2016-04-15 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;Genetics Home Reference:ovarian-cancer;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 +17 41247892 T C 41247892 41247892 - Haplotype 236265 RCV000225499 SCV000282252 46245 BRCA1 NM_007294.3:c.641A>G NP_009225.1:p.Asp214Gly NM_007294.3:c.641A>G:missense variant;NR_027676.1:n.777A>G:non-coding transcript variant Benign benign 0 0 0 0 1 reviewed by expert panel reviewed by expert panel 2016-04-15 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 +17 41247941 T G 41247941 41247941 - Haplotype 236265 RCV000225499 SCV000282252 46242 BRCA1 NM_007294.3:c.594-2A>C NM_007294.3:c.594-2A>C:splice acceptor variant Benign benign 0 0 0 0 1 reviewed by expert panel reviewed by expert panel 2016-04-15 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 +17 41276111 C T 41276111 41276111 - Haplotype 487432 RCV000576499 SCV000677891 424868 BRCA1 NM_007294.3:c.3G>A NP_009225.1:p.Met1Ile NM_007294.3:c.3G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-05 Counsyl Counsyl Breast-ovarian cancer, familial 1 15604628;16267036;16941470;17392385;17508274;19305347;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27854360 loss of function unknown GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2017-04-05 +17 41276114 T C 41276114 41276114 - Haplotype 487432 RCV000576499 SCV000677891 480485 BRCA1 NM_007294.3:c.-1A>G Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-05 Counsyl Counsyl Breast-ovarian cancer, familial 1 15604628;16267036;16941470;17392385;17508274;19305347;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27854360 loss of function unknown GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2017-04-05 17 42988737 C T 42988737 42988737 - Haplotype 190352 RCV000192152 SCV000223016 77412 GFAP NM_002055.4:c.994G>A NP_002046.1:p.Glu332Lys NM_002055.4:c.994G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-08 GeneReviews GeneReviews Alexander's disease;Alexander's disease 18004641;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 17 42988743 G C 42988743 42988743 - Haplotype 190352 RCV000192152 SCV000223016 77410 GFAP NM_002055.4:c.988C>G NP_002046.1:p.Arg330Gly NM_002055.4:c.988C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-08 GeneReviews GeneReviews Alexander's disease;Alexander's disease 18004641;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 17 42990750 C G 42990750 42990750 - Haplotype 190336 RCV000192110 SCV000222969 77391 GFAP NM_002055.4:c.667G>C NP_002046.1:p.Glu223Gln NM_002055.4:c.667G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-08 GeneReviews GeneReviews Alexander's disease;Alexander's disease 14707518;15060693;19444543;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 @@ -437,6 +479,8 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 17 62019174 A G 62019174 62019174 - Haplotype 21158 RCV000020275 SCV000040630 34010 SCN4A NM_000334.4:c.4468T>C NP_000325.4:p.Phe1490Leu NM_000334.4:c.4468T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-01-28 GeneReviews GeneReviews Hyperkalemic Periodic Paralysis Type 1 10930446;20298421;20301669 germline GeneReviews:NBK1496;GeneTests:2133;Genetic Alliance:Hyperkalemic+Periodic+Paralysis+Type+1/8591;MedGen:CN074266;OMIM:170500;Orphanet:682 2016-01-28 17 73513145 T C 73513145 73513145 + Haplotype 2121 RCV000002203 SCV000022361 38422 TSEN54 NM_207346.2:c.277T>C NP_997229.2:p.Ser93Pro NM_207346.2:c.277T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-09-01 OMIM OMIM Pontocerebellar hypoplasia type 4;PONTOCEREBELLAR HYPOPLASIA, TYPE 4 18711368;20301773 germline GeneReviews:NBK9673;Genetic Alliance:Pontocerebellar+hypoplasia+type+4/5866;MedGen:C1856974;OMIM:225753;Office of Rare Diseases:343;Orphanet:166063 2008-09-01 17 73518081 G T 73518081 73518081 + Haplotype 2121 RCV000002203 SCV000022361 17159 TSEN54 NM_207346.2:c.919G>T NP_997229.2:p.Ala307Ser NM_207346.2:c.919G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-09-01 OMIM OMIM Pontocerebellar hypoplasia type 4;PONTOCEREBELLAR HYPOPLASIA, TYPE 4 18711368;20301773 germline GeneReviews:NBK9673;Genetic Alliance:Pontocerebellar+hypoplasia+type+4/5866;MedGen:C1856974;OMIM:225753;Office of Rare Diseases:343;Orphanet:166063 2008-09-01 +17 79684843 C T 79684843 79684843 + Haplotype 446176 RCV000516170 SCV000611120 439524 SLC25A10 NM_001270888.1:c.684C>T NP_001257817.1:p.Pro228= NM_001270888.1:c.684C>T:synonymous variant;NM_001270953.1:c.574C>T:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Computational Biology Unit,University of Bari Computational Biology Unit,University of Bari Mitochondrial complex I deficiency;Epileptic encephalopathy;Decreased activity of mitochondrial complex I;Infantile muscular hypotonia 29211846 not applicable;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;HP:HP:0008947;HP:HP:0011923;HP:HP:0200134;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 0000-00-00 +17 79686969 G A 79686969 79686969 + Haplotype 446176 RCV000516170 SCV000611120 439525 SLC25A10 NM_001270888.1:c.790-37G>A NM_001270888.1:c.790-37G>A:intron variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Computational Biology Unit,University of Bari Computational Biology Unit,University of Bari Mitochondrial complex I deficiency;Epileptic encephalopathy;Decreased activity of mitochondrial complex I;Infantile muscular hypotonia 29211846 not applicable;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;HP:HP:0008947;HP:HP:0011923;HP:HP:0200134;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 0000-00-00 18 3215156 CAC GAG 3215156 3215158 - Haplotype 229030 RCV000221703 SCV000272178 230906 MYOM1 NM_003803.3:c.64_66delGTGinsCTC NP_003794.3:p.Val22Leu NM_003803.3:c.64_66delGTGinsCTC:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-07-08 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-08 18 3215157 A C 3215157 3215157 - Haplotype 229030 RCV000221703 SCV000272178 230904 MYOM1 NM_003803.3:c.65T>G NP_003794.3:p.Val22Gly NM_003803.3:c.65T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-07-08 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-08 18 43445579 C G 43445579 43445579 - Haplotype 267449 RCV000496979 SCV000328418 262702 EPG5 NM_020964.2:c.6766+1G>C NM_020964.2:c.6766+1G>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-11 Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Absent corpus callosum cataract immunodeficiency;Vici syndrome 21965116;28615637;3344762 germline Genetic Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81;MedGen:C1855772;OMIM:242840;Office of Rare Diseases:448;Orphanet:1493 2016-08-11 @@ -480,34 +524,63 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 19 11218182 A G 11218182 11218182 + Haplotype 430769 RCV000495938 SCV000583762 245864 LDLR NM_000527.4:c.932A>G NP_000518.1:p.Lys311Arg NM_000527.4:c.932A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-30 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 19 11218189 C G 11218189 11218189 + Haplotype 430769 RCV000495938 SCV000583762 245873 LDLR NM_000527.4:c.939C>G NP_000518.1:p.Cys313Trp NM_000527.4:c.939C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-30 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 19 11224035 T C 11224035 11224035 + Haplotype 430765 RCV000495914 SCV000583747 246074 LDLR NM_000527.4:c.1268T>C NP_000518.1:p.Ile423Thr NM_000527.4:c.1268T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-30 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;28145427 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 -19 11226873 A C 11226873 11226873 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 18776 LDLR NM_000527.4:c.1690A>C NP_000518.1:p.Asn564His NM_000527.4:c.1690A>C:missense variant Pathogenic, other other;pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2017-03-30 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2012-05-04;2017-03-30 +19 11226873 A C 11226873 11226873 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 18776 LDLR NM_000527.4:c.1690A>C NP_000518.1:p.Asn564His NM_000527.4:c.1690A>C:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2017-03-30 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 1997-01-01;2017-03-30 19 11230901 A C 11230901 11230901 + Haplotype 430800 RCV000495898 SCV000583944 424334 LDLR NM_000527.4:c.1979A>C NP_000518.1:p.Gln660Pro NM_000527.4:c.1979A>C:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-30 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 19 11238731 G A 11238731 11238731 + Haplotype 430800 RCV000495898 SCV000583944 424344 LDLR NM_000527.4:c.2359G>A NP_000518.1:p.Val787Met NM_000527.4:c.2359G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-30 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 -19 11240191 CTCCTCGTCT C 11240196 11240204 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 71434 LDLR NM_000527.4:c.2397_2405delCGTCTTCCT NP_000518.1:p.Val800_Leu802del NM_000527.4:c.2397_2405delCGTCTTCCT:inframe_variant Pathogenic, other other;pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2017-03-30 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2012-05-04;2017-03-30 +19 11240191 CTCCTCGTCT C 11240196 11240204 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 71434 LDLR NM_000527.4:c.2397_2405delCGTCTTCCT NP_000518.1:p.Val800_Leu802del NM_000527.4:c.2397_2405delCGTCTTCCT:inframe_variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2017-03-30 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 1997-01-01;2017-03-30 19 18705148 A C 18705148 18705148 - Haplotype 5706 RCV000006060 SCV000026242 34280 CRLF1 NM_004750.4:c.1121T>G NP_004741.1:p.Leu374Arg NM_004750.4:c.1121T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2003-02-01 OMIM OMIM Cold-induced sweating syndrome 1;COLD-INDUCED SWEATING SYNDROME 1 12509788;21370513 germline GeneReviews:NBK52917;Genetic Alliance:Cold-induced+sweating+syndrome+1/8000;Genetic Alliance:Crisponi+Syndrome/2012;MedGen:C1848947;OMIM:272430;Orphanet:157820 2003-02-01 19 18710530 C T 18710530 18710530 - Haplotype 5706 RCV000006060 SCV000026242 20745 CRLF1 NM_004750.4:c.242G>A NP_004741.1:p.Arg81His NM_004750.4:c.242G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2003-02-01 OMIM OMIM Cold-induced sweating syndrome 1;COLD-INDUCED SWEATING SYNDROME 1 12509788;21370513 germline GeneReviews:NBK52917;Genetic Alliance:Cold-induced+sweating+syndrome+1/8000;Genetic Alliance:Crisponi+Syndrome/2012;MedGen:C1848947;OMIM:272430;Orphanet:157820 2003-02-01 19 36333331 T A 36333331 36333331 - Haplotype 6872 RCV000007275 SCV000027471 38439 NPHS1 NM_004646.3:c.2456A>T NP_004637.1:p.Asp819Val NM_004646.3:c.2456A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-02-01 OMIM OMIM Finnish congenital nephrotic syndrome;NEPHROTIC SYNDROME, TYPE 1 10652016 germline Genetic Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861;MedGen:C0403399;OMIM:256300;OMIM:602716.0001;OMIM:602716.0002;OMIM:602716.0003;OMIM:602716.0004;OMIM:602716.0005;OMIM:602716.0006;OMIM:602716.0007;OMIM:602716.0008;OMIM:602716.0009;OMIM:602716.0010;Office of Rare Diseases:1500;Orphanet:839;SNOMED CT:197601003 2000-02-01 19 36339044 C T 36339044 36339044 - Haplotype 6872 RCV000007275 SCV000027471 21911 NPHS1 NM_004646.3:c.1339G>A NP_004637.1:p.Glu447Lys NM_004646.3:c.1339G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-02-01 OMIM OMIM Finnish congenital nephrotic syndrome;NEPHROTIC SYNDROME, TYPE 1 10652016 germline Genetic Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861;MedGen:C0403399;OMIM:256300;OMIM:602716.0001;OMIM:602716.0002;OMIM:602716.0003;OMIM:602716.0004;OMIM:602716.0005;OMIM:602716.0006;OMIM:602716.0007;OMIM:602716.0008;OMIM:602716.0009;OMIM:602716.0010;Office of Rare Diseases:1500;Orphanet:839;SNOMED CT:197601003 2000-02-01 -19 38979992 AAG A 38979995 38979996 + Haplotype 29876 RCV000022757 SCV000044046 38831 RYR1 NM_000540.2:c.5726_5727delAG NP_000531.2:p.Glu1909Glyfs NM_000540.2:c.5726_5727delAG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-09-07 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2012-09-07 +19 38979992 AAG A 38979995 38979996 + Haplotype 29876 RCV000022757 SCV000044046 38831 RYR1 NM_000540.2:c.5726_5727delAG NP_000531.2:p.Glu1909Glyfs NM_000540.2:c.5726_5727delAG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-11-01 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 19 38994959 C T 38994959 38994959 + Haplotype 12985 RCV000013857 SCV000034104 28024 RYR1 NM_000540.2:c.8026C>T NP_000531.2:p.Arg2676Trp NM_000540.2:c.8026C>T:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-01-01 OMIM OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627;14870754;16163667;16917943;20301325;23788249;25356965;27854360 germline GeneReviews:NBK1146;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 2004-01-01 19 38995998 C G 38995998 38995998 + Haplotype 12985 RCV000013857 SCV000034104 38459 RYR1 NM_000540.2:c.8360C>G NP_000531.2:p.Thr2787Ser NM_000540.2:c.8360C>G:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-01-01 OMIM OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627;14870754;16163667;16917943;20301325;23788249;25356965;27854360 germline GeneReviews:NBK1146;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 2004-01-01 -19 39002893 T C 39002893 39002893 + Haplotype 29876 RCV000022757 SCV000044046 51078 RYR1 NM_000540.2:c.9242T>C NP_000531.2:p.Met3081Thr NM_000540.2:c.9242T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-09-07 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2012-09-07 +19 39002893 T C 39002893 39002893 + Haplotype 29876 RCV000022757 SCV000044046 51078 RYR1 NM_000540.2:c.9242T>C NP_000531.2:p.Met3081Thr NM_000540.2:c.9242T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-11-01 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 +19 39013851 C G 39013851 39013851 + Haplotype 65396 RCV000022758 SCV000044047 70540 RYR1 NM_000540.2:c.10348-6C>G NM_000540.2:c.10348-6C>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-11-01 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 18253926;20301467;20839240;22009146;23788249;27854218;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 +19 39071022 G A 39071022 39071022 + Haplotype 65396 RCV000022758 SCV000044047 38832 RYR1 NM_000540.2:c.14524G>A NP_000531.2:p.Val4842Met NM_000540.2:c.14524G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-11-01 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 18253926;20301467;20839240;22009146;23788249;27854218;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 19 42364887 G T 42364887 42364887 + Haplotype 6319 RCV000033188 SCV000057024 21358 RPS19 NM_001022.3:c.43G>T NP_001013.1:p.Val15Phe NM_001022.3:c.43G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2003-06-15 OMIM OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610;20301769 germline GeneReviews:NBK7047;Genetic Alliance:Diamond-Blackfan+anemia+1/8226;MedGen:C2676137;OMIM:105650;Orphanet:124 2003-06-15 19 42365273 C T 42365273 42365273 + Haplotype 6319 RCV000033188 SCV000057024 38387 RPS19 NM_001022.3:c.164C>T NP_001013.1:p.Thr55Met NM_001022.3:c.164C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2003-06-15 OMIM OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610;20301769 germline GeneReviews:NBK7047;Genetic Alliance:Diamond-Blackfan+anemia+1/8226;MedGen:C2676137;OMIM:105650;Orphanet:124 2003-06-15 +19 45411064 G A 45411064 45411064 + Haplotype 441264 RCV000019443 SCV000039733 32899 APOE NM_000041.3:c.91G>A NP_000032.1:p.Glu31Lys NM_000041.3:c.91G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-11-01 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA 1361196;1674745;22962670 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1992-11-01 +19 45411110 T C 45411110 45411110 + Haplotype 441268 RCV000019456 SCV000039746 32909 APOE NM_000041.3:c.137T>C NP_000032.1:p.Leu46Pro NM_000041.3:c.137T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-15 OMIM OMIM APOE4(-)-FREIBURG;APOE4(-)-FREIBURG 21500874 germline OMIM:107741.0023 2017-02-15 +19 45411858 C G 45411858 45411858 + Haplotype 441269 RCV000019458 SCV000039748 32911 APOE NM_000041.3:c.305C>G NP_000032.1:p.Pro102Arg NM_000041.3:c.305C>G:missense variant association association 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2018-01-10 OMIM OMIM APOE4 VARIANT;APOE4 VARIANT 18583979;21500874;2341812;3585172 germline OMIM:107741.0025;OMIM:107741.0028 2018-01-10 +19 45411902 G A 45411902 45411902 + Haplotype 441270 RCV000019459 SCV000039749 32912 APOE NM_000041.3:c.349G>A NP_000032.1:p.Ala117Thr NM_000041.3:c.349G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-07-01 OMIM OMIM APOE3 VARIANT;APOE3 VARIANT 18583979;6327682 germline OMIM:107741.0026 2008-07-01 +19 45411941 T C 45411941 45411941 + Haplotype 440870 RCV000019438 SCV000039727 32903 APOE NM_000041.3:c.388T>C NP_000032.1:p.Cys130Arg NM_000041.3:c.388T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-14 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT 1730728;21500874;22962670;25333069;2539388;6860421 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 2017-02-14 +19 45411941 T C 45411941 45411941 + Haplotype 441267 RCV000019455 SCV000039745 32903 APOE NM_000041.3:c.388T>C NP_000032.1:p.Cys130Arg NM_000041.3:c.388T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-05-01 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4 21500874;22962670;8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1993-05-01 +19 45411941 T C 45411941 45411941 + Haplotype 441268 RCV000019456 SCV000039746 32903 APOE NM_000041.3:c.388T>C NP_000032.1:p.Cys130Arg NM_000041.3:c.388T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-15 OMIM OMIM APOE4(-)-FREIBURG;APOE4(-)-FREIBURG 21500874 germline OMIM:107741.0023 2017-02-15 +19 45411941 T C 45411941 45411941 + Haplotype 441269 RCV000019458 SCV000039748 32903 APOE NM_000041.3:c.388T>C NP_000032.1:p.Cys130Arg NM_000041.3:c.388T>C:missense variant association association 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2018-01-10 OMIM OMIM APOE4 VARIANT;APOE4 VARIANT 18583979;21500874;2341812;3585172 germline OMIM:107741.0025;OMIM:107741.0028 2018-01-10 +19 45411987 G A 45411987 45411987 + Haplotype 441262 RCV000019439 SCV000039729 32895 APOE NM_000041.3:c.434G>A NP_000032.1:p.Gly145Asp NM_000041.3:c.434G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1984-04-01 OMIM OMIM Apolipoproteinemia E1;APOLIPOPROTEINEMIA E1 6323533 germline 1984-04-01 +19 45412031 C T 45412031 45412031 + Haplotype 440870 RCV000019438 SCV000039727 38488 APOE NM_000041.3:c.478C>T NP_000032.1:p.Arg160Cys NM_000041.3:c.478C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-14 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT 1730728;21500874;22962670;25333069;2539388;6860421 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 2017-02-14 +19 45412040 C T 45412040 45412040 + Haplotype 441264 RCV000019443 SCV000039733 32890 APOE NM_000041.3:c.487C>T NP_000032.1:p.Arg163Cys NM_000041.3:c.487C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-11-01 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA 1361196;1674745;22962670 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1992-11-01 +19 45412061 G C 45412061 45412061 + Haplotype 441270 RCV000019459 SCV000039749 38495 APOE NM_000041.3:c.508G>C NP_000032.1:p.Ala170Pro NM_000041.3:c.508G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-07-01 OMIM OMIM APOE3 VARIANT;APOE3 VARIANT 18583979;6327682 germline OMIM:107741.0026 2008-07-01 +19 45412079 C T 45412079 45412079 + Haplotype 441262 RCV000019439 SCV000039729 32887 APOE NM_000041.3:c.526C>T NP_000032.1:p.Arg176Cys NM_000041.3:c.526C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1984-04-01 OMIM OMIM Apolipoproteinemia E1;APOLIPOPROTEINEMIA E1 6323533 germline 1984-04-01 +19 45412079 C T 45412079 45412079 + Haplotype 441265 RCV000019452 SCV000039741 32887 APOE NM_000041.3:c.526C>T NP_000032.1:p.Arg176Cys NM_000041.3:c.526C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-21 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III 22962670;8664327 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 2017-02-21 +19 45412079 C T 45412079 45412079 + Haplotype 441266 RCV000019454 SCV000039744 32887 APOE NM_000041.3:c.526C>T NP_000032.1:p.Arg176Cys NM_000041.3:c.526C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-05-01 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2 22962670;8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1993-05-01 +19 45412278 G A 45412278 45412278 + Haplotype 441265 RCV000019452 SCV000039741 38490 APOE NM_000041.3:c.725G>A NP_000032.1:p.Arg242Gln NM_000041.3:c.725G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-21 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III 22962670;8664327 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 2017-02-21 +19 45412314 T A 45412314 45412314 + Haplotype 441266 RCV000019454 SCV000039744 38491 APOE NM_000041.3:c.761T>A NP_000032.1:p.Val254Glu NM_000041.3:c.761T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-05-01 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2 22962670;8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1993-05-01 +19 45412337 G A 45412337 45412337 + Haplotype 441263 RCV000019435 SCV000039725 32893 APOE NM_000041.3:c.784G>A NP_000032.1:p.Glu262Lys NM_000041.3:c.784G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1995-08-01 OMIM OMIM HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7;HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7 2470732;2738044;6480826;7586659 germline OMIM:107741.0007 1995-08-01 +19 45412340 G A 45412340 45412340 + Haplotype 441263 RCV000019435 SCV000039725 38487 APOE NM_000041.3:c.787G>A NP_000032.1:p.Glu263Lys NM_000041.3:c.787G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1995-08-01 OMIM OMIM HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7;HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7 2470732;2738044;6480826;7586659 germline OMIM:107741.0007 1995-08-01 +19 45412358 C G 45412358 45412358 + Haplotype 441267 RCV000019455 SCV000039745 38492 APOE NM_000041.3:c.805C>G NP_000032.1:p.Arg269Gly NM_000041.3:c.805C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-05-01 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4 21500874;22962670;8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1993-05-01 19 47258781 C A 47258781 47258781 + Phase unknown 224674 RCV000226653 SCV000265787 226485 FKRP NM_024301.4:c.74C>A NP_077277.1:p.Ser25Ter NM_024301.4:c.74C>A:nonsense Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-01 Center for Genetic Medicine Research,Children's National Medical Center Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;MedGen:C1846672;OMIM:606596.0004;OMIM:606596.0005;OMIM:606596.0006;OMIM:606596.0011;OMIM:606596.0012;OMIM:606596.0013;OMIM:606596.0014;OMIM:606596.0015;OMIM:606596.0016;OMIM:607155;Orphanet:34515 2015-12-01 19 47258781 CGT C 47258783 47258784 + Phase unknown 224674 RCV000226653 SCV000265787 226486 FKRP NM_024301.4:c.76_77delTG NP_077277.1:p.Trp26Alafs NM_024301.4:c.76_77delTG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-01 Center for Genetic Medicine Research,Children's National Medical Center Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;MedGen:C1846672;OMIM:606596.0004;OMIM:606596.0005;OMIM:606596.0006;OMIM:606596.0011;OMIM:606596.0012;OMIM:606596.0013;OMIM:606596.0014;OMIM:606596.0015;OMIM:606596.0016;OMIM:607155;Orphanet:34515 2015-12-01 19 47259533 C A 47259533 47259533 + Phase unknown 224674 RCV000226653 SCV000265787 19260 FKRP NM_024301.4:c.826C>A NP_077277.1:p.Leu276Ile NM_024301.4:c.826C>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-01 Center for Genetic Medicine Research,Children's National Medical Center Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;MedGen:C1846672;OMIM:606596.0004;OMIM:606596.0005;OMIM:606596.0006;OMIM:606596.0011;OMIM:606596.0012;OMIM:606596.0013;OMIM:606596.0014;OMIM:606596.0015;OMIM:606596.0016;OMIM:607155;Orphanet:34515 2015-12-01 -20 4680251 A G 4680251 4680251 + Haplotype 13399 RCV000014336 SCV000034585 28436 PRNP NM_000311.4:c.385A>G NP_000302.1:p.Met129Val NM_000311.4:c.385A>G:missense variant;NM_001271561.1:c.*74A>G:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-11-26 OMIM OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20298421;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004 2008-11-26 +19 49468583 C T 49468583 49468583 + Haplotype 441527 RCV000017941 SCV000038220 31516 FTL NM_000146.3:c.-182C>T NM_000146.3:c.-182C>T:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-02-19 OMIM OMIM Hyperferritinemia cataract syndrome;HYPERFERRITINEMIA WITH OR WITHOUT CATARACT 23421845;9226182 germline Genetic Alliance:Hyperferritinemia+cataract+syndrome/3553;Genetics Home Reference:hyperferritinemia-cataract-syndrome;MedGen:C1833213;OMIM:134790.0001;OMIM:134790.0002;OMIM:134790.0003;OMIM:134790.0004;OMIM:134790.0005;OMIM:134790.0006;OMIM:134790.0007;OMIM:134790.0008;OMIM:134790.0009;OMIM:134790.0011;OMIM:134790.0012;OMIM:134790.0017;OMIM:134790.0020;OMIM:600886;Office of Rare Diseases:2806;Orphanet:163 2013-02-19 +19 49468587 T G 49468587 49468587 + Haplotype 441527 RCV000017941 SCV000038220 260732 FTL NM_000146.3:c.-178T>G NM_000146.3:c.-178T>G:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-02-19 OMIM OMIM Hyperferritinemia cataract syndrome;HYPERFERRITINEMIA WITH OR WITHOUT CATARACT 23421845;9226182 germline Genetic Alliance:Hyperferritinemia+cataract+syndrome/3553;Genetics Home Reference:hyperferritinemia-cataract-syndrome;MedGen:C1833213;OMIM:134790.0001;OMIM:134790.0002;OMIM:134790.0003;OMIM:134790.0004;OMIM:134790.0005;OMIM:134790.0006;OMIM:134790.0007;OMIM:134790.0008;OMIM:134790.0009;OMIM:134790.0011;OMIM:134790.0012;OMIM:134790.0017;OMIM:134790.0020;OMIM:600886;Office of Rare Diseases:2806;Orphanet:163 2013-02-19 +19 49519883 A G 49519883 49519883 - Haplotype 441529 RCV000015495 SCV000035760 38465 LHB NM_000894.2:c.104T>C NP_000885.1:p.Ile35Thr NM_000894.2:c.104T>C:missense variant Benign benign 0 0 0 0 1 no assertion criteria provided no assertion criteria provided 2003-03-01 OMIM OMIM LUTEINIZING HORMONE POLYMORPHISM;LUTEINIZING HORMONE POLYMORPHISM 10199775;10323405;10468997;12620433;1727817;7714098;7904610;8784083 germline OMIM:152780.0002 2003-03-01 +19 49519905 A G 49519905 49519905 - Haplotype 441529 RCV000015495 SCV000035760 29453 LHB NM_000894.2:c.82T>C NP_000885.1:p.Trp28Arg NM_000894.2:c.82T>C:missense variant Benign benign 0 0 0 0 1 no assertion criteria provided no assertion criteria provided 2003-03-01 OMIM OMIM LUTEINIZING HORMONE POLYMORPHISM;LUTEINIZING HORMONE POLYMORPHISM 10199775;10323405;10468997;12620433;1727817;7714098;7904610;8784083 germline OMIM:152780.0002 2003-03-01 20 4680251 A G 4680251 4680251 + Haplotype 13399 RCV000014337 SCV000034586 28436 PRNP NM_000311.4:c.385A>G NP_000302.1:p.Met129Val NM_000311.4:c.385A>G:missense variant;NM_001271561.1:c.*74A>G:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-11-26 OMIM OMIM Fatal familial insomnia 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008 2008-11-26 -20 4680398 G A 4680398 4680398 + Haplotype 13399 RCV000014336 SCV000034585 28438 PRNP NM_000311.4:c.532G>A NP_000302.1:p.Asp178Asn NM_000311.4:c.532G>A:missense variant;NM_001271561.1:c.*221G>A:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-11-26 OMIM OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20298421;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004 2008-11-26 +20 4680251 A G 4680251 4680251 + Haplotype 453225 RCV000032588 SCV000034587 28436 PRNP NM_000311.4:c.385A>G NP_000302.1:p.Met129Val NM_000311.4:c.385A>G:missense variant;NM_001271561.1:c.*74A>G:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-01-05 OMIM OMIM Fatal familial insomnia;FATAL FAMILIAL INSOMNIA 1347910;1357594;14732629;15623717;15806397;16227536;20038778;20301407;7630420;7783865;8105681 germline GeneReviews:NBK1229;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008 2010-01-05 +20 4680251 A G 4680251 4680251 + Haplotype 453226 RCV000014336 SCV000034585 28436 PRNP NM_000311.4:c.385A>G NP_000302.1:p.Met129Val NM_000311.4:c.385A>G:missense variant;NM_001271561.1:c.*74A>G:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-11-26 OMIM OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20298421;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004 2008-11-26 20 4680398 G A 4680398 4680398 + Haplotype 13399 RCV000014337 SCV000034586 28438 PRNP NM_000311.4:c.532G>A NP_000302.1:p.Asp178Asn NM_000311.4:c.532G>A:missense variant;NM_001271561.1:c.*221G>A:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-11-26 OMIM OMIM Fatal familial insomnia 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008 2008-11-26 -20 10393439 C A 10393439 10393439 - Haplotype 5308 RCV000005632 SCV000025814 38435 MKKS NM_170784.2:c.724G>T NP_740754.1:p.Ala242Ser NM_170784.2:c.724G>T:missense variant;NR_072977.1:n.364-3988G>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-09-15 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 -20 10393913 G A 10393913 10393913 - Haplotype 5308 RCV000005632 SCV000025814 20347 MKKS NM_170784.2:c.250C>T NP_740754.1:p.His84Tyr NM_170784.2:c.250C>T:missense variant;NR_072977.1:n.364-4462C>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-09-15 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 +20 4680398 G A 4680398 4680398 + Haplotype 453225 RCV000032588 SCV000034587 28438 PRNP NM_000311.4:c.532G>A NP_000302.1:p.Asp178Asn NM_000311.4:c.532G>A:missense variant;NM_001271561.1:c.*221G>A:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-01-05 OMIM OMIM Fatal familial insomnia;FATAL FAMILIAL INSOMNIA 1347910;1357594;14732629;15623717;15806397;16227536;20038778;20301407;7630420;7783865;8105681 germline GeneReviews:NBK1229;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008 2010-01-05 +20 4680398 G A 4680398 4680398 + Haplotype 453226 RCV000014336 SCV000034585 28438 PRNP NM_000311.4:c.532G>A NP_000302.1:p.Asp178Asn NM_000311.4:c.532G>A:missense variant;NM_001271561.1:c.*221G>A:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-11-26 OMIM OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20298421;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004 2008-11-26 +20 10393439 C A 10393439 10393439 - Haplotype 448914 RCV000005632 SCV000025814 38435 MKKS NM_170784.2:c.724G>T NP_740754.1:p.Ala242Ser NM_170784.2:c.724G>T:missense variant;NR_072977.1:n.364-3988G>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-09-15 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 +20 10393913 G A 10393913 10393913 - Haplotype 448914 RCV000005632 SCV000025814 20347 MKKS NM_170784.2:c.250C>T NP_740754.1:p.His84Tyr NM_170784.2:c.250C>T:missense variant;NR_072977.1:n.364-4462C>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-09-15 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 20 39742755 A G 39742755 39742755 + Haplotype 16773 RCV000018261 SCV000038540 31812 TOP1 NM_003286.3:c.1598A>G NP_003277.1:p.Asp533Gly NM_003286.3:c.1598A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1991-01-11 OMIM OMIM DNA topoisomerase I, camptothecin-resistant;DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT 1849260 germline MedGen:C4016020 1991-01-11 20 43255143 G C 43255143 43255143 - Haplotype 1981 RCV000002058 SCV000022216 38420 ADA NM_000022.3:c.316C>G NP_001308979.1:p.Thr9= NM_000022.3:c.316C>G:missense variant;NM_001322050.1:c.27C>G:synonymous variant;NR_136160.1:n.467C>G:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-12-01 OMIM OMIM Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency;SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY 3304460;9361033 germline MedGen:C0392607 1997-12-01 20 43255169 T C 43255169 43255169 - Haplotype 1981 RCV000002058 SCV000022216 17020 ADA NM_000022.3:c.290A>G NP_000013.2:p.Tyr97Cys NM_000022.3:c.290A>G:missense variant;NR_136160.1:n.441A>G:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-12-01 OMIM OMIM Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency;SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY 3304460;9361033 germline MedGen:C0392607 1997-12-01 -20 62044831 G T 62044831 62044831 Haplotype 369808 RCV000408720 SCV000484644 390693 NM_172107.3:c.1735C>A NP_742105.1:p.Leu579Met NM_172107.3:c.1735C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-03-31 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 -20 62044832 C T 62044832 62044832 Haplotype 369808 RCV000408720 SCV000484644 390692 NM_172107.3:c.1734G>A NP_742105.1:p.Met578Ile NM_172107.3:c.1734G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-03-31 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 +20 62044831 G T 62044831 62044831 - Haplotype 369808 RCV000408720 SCV000484644 390693 KCNQ2 NM_172107.3:c.1735C>A NP_742105.1:p.Leu579Met NM_172107.3:c.1735C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-03-31 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 +20 62044831 GC TT 62044831 62044832 - Haplotype 369808 RCV000408720 SCV000484644 203721 KCNQ2 NM_172107.3:c.1734_1735delGCinsAA NP_742105.1:p.Met578_Leu579delinsIleMet NM_172107.3:c.1734_1735delGCinsAA:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-03-31 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 +20 62044832 C T 62044832 62044832 - Haplotype 369808 RCV000408720 SCV000484644 390692 KCNQ2 NM_172107.3:c.1734G>A NP_742105.1:p.Met578Ile NM_172107.3:c.1734G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-03-31 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 21 34951753 T G 34951753 34951753 - Haplotype 431417 RCV000496974 SCV000588191 424961 DONSON NM_017613.3:c.1466A>C NP_060083.1:p.Lys489Thr NM_017613.3:c.1466A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-08-04 OMIM OMIM MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES;MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 28191891 germline MedGen:CN373593;OMIM:611428.0001;OMIM:611428.0002;OMIM:611428.0003;OMIM:611428.0004;OMIM:611428.0005;OMIM:611428.0006;OMIM:611428.0007;OMIM:617604 2017-08-04 21 34956005 T C 34956005 34956005 - Haplotype 431417 RCV000496974 SCV000588191 424940 DONSON NM_017613.3:c.786-33A>G NM_017613.3:c.786-33A>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-08-04 OMIM OMIM MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES;MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 28191891 germline MedGen:CN373593;OMIM:611428.0001;OMIM:611428.0002;OMIM:611428.0003;OMIM:611428.0004;OMIM:611428.0005;OMIM:611428.0006;OMIM:611428.0007;OMIM:617604 2017-08-04 21 34960866 T G 34960866 34960866 - Haplotype 431417 RCV000496974 SCV000588191 424962 DONSON NM_017613.3:c.82A>C NP_060083.1:p.Ser28Arg NM_017613.3:c.82A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-08-04 OMIM OMIM MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES;MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 28191891 germline MedGen:CN373593;OMIM:611428.0001;OMIM:611428.0002;OMIM:611428.0003;OMIM:611428.0004;OMIM:611428.0005;OMIM:611428.0006;OMIM:611428.0007;OMIM:617604 2017-08-04 @@ -520,15 +593,15 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 22 24109779 G T 24109779 24109779 - Haplotype 180222 RCV000157071 SCV000206796 178409 CHCHD10 NM_213720.2:c.43C>A NP_998885.1:p.Arg15Ser NM_213720.2:c.43C>A:missense variant;NR_125755.1:n.140-52C>A:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-01 OMIM OMIM Myopathy, isolated mitochondrial, autosomal dominant;MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (1 family) 25193783;26131548;9324076 germline GeneReviews:NBK304142;MedGen:C4015513;OMIM:616209;Orphanet:457050 2015-01-01 22 25625439 C A 25625439 25625439 + Haplotype 217348 RCV000203383 SCV000256031 214001 CRYBB2 NM_000496.2:c.343C>A NP_000487.1:p.Pro115Thr NM_000496.2:c.343C>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-09 Eye Genetics Research Group,Children's Medical Research Institute Eye Genetics Research Group,Children's Medical Research Institute Congenital cataract 26694549 de novo Human Phenotype Ontology:HP:0000519;Human Phenotype Ontology:HP:0001108;Human Phenotype Ontology:HP:0007679;Human Phenotype Ontology:HP:0007726;Human Phenotype Ontology:HP:0007788;MedGen:C1842324 2015-01-09 22 25625451 G A 25625451 25625451 + Haplotype 217348 RCV000203383 SCV000256031 214002 CRYBB2 NM_000496.2:c.355G>A NP_000487.1:p.Gly119Arg NM_000496.2:c.355G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-09 Eye Genetics Research Group,Children's Medical Research Institute Eye Genetics Research Group,Children's Medical Research Institute Congenital cataract 26694549 de novo Human Phenotype Ontology:HP:0000519;Human Phenotype Ontology:HP:0001108;Human Phenotype Ontology:HP:0007679;Human Phenotype Ontology:HP:0007726;Human Phenotype Ontology:HP:0007788;MedGen:C1842324 2015-01-09 -22 36661906 A G 36661906 36661906 + Haplotype 6080 RCV000006453 SCV000026636 21119 APOL1 NM_145343.2:c.1072A>G NP_663318.1:p.Ser358Gly NM_145343.2:c.1072A>G:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-10-25 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-10-25 -22 36662034 T G 36662034 36662034 + Haplotype 6080 RCV000006453 SCV000026636 76004 APOL1 NM_145343.2:c.1200T>G NP_663318.1:p.Ile400Met NM_145343.2:c.1200T>G:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-10-25 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-10-25 +22 36661906 A G 36661906 36661906 + Haplotype 6080 RCV000006453 SCV000026636 21119 APOL1 NM_145343.2:c.1072A>G NP_663318.1:p.Ser358Gly NM_145343.2:c.1072A>G:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-13 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-08-13 +22 36662034 T G 36662034 36662034 + Haplotype 6080 RCV000006453 SCV000026636 76004 APOL1 NM_145343.2:c.1200T>G NP_663318.1:p.Ile400Met NM_145343.2:c.1200T>G:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-13 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-08-13 22 40757623 G C 40757623 40757623 + Haplotype 208488 RCV000190501 SCV000245387 205025 ADSL NM_000026.3:c.994G>C NP_000017.1:p.Asp332His NM_000026.3:c.994G>C:missense variant;NR_134256.1:n.1053G>C:non-coding transcript variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2014-02-17 Mendelics Analise Genomica Mendelics Analise Genomica Adenylosuccinate lyase deficiency;Adenylosuccinate lyase deficiency 10090474;23519317 germline Genetic Alliance:Adenylosuccinase+Deficiency/230;MedGen:C0268126;OMIM:103050;Office of Rare Diseases:550;Orphanet:46;SNOMED CT:15285008 2014-02-17 22 40760969 G A 40760969 40760969 + Haplotype 208488 RCV000190501 SCV000245387 17501 ADSL NM_000026.3:c.1277G>A NP_000017.1:p.Arg426His NM_000026.3:c.1277G>A:missense variant;NM_001123378.1:c.1191+600G>A:intron variant;NR_134256.1:n.1367G>A:non-coding transcript variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2014-02-17 Mendelics Analise Genomica Mendelics Analise Genomica Adenylosuccinate lyase deficiency;Adenylosuccinate lyase deficiency 10090474;23519317 germline Genetic Alliance:Adenylosuccinase+Deficiency/230;MedGen:C0268126;OMIM:103050;Office of Rare Diseases:550;Orphanet:46;SNOMED CT:15285008 2014-02-17 X 13768812 TCTCAAACACTTGGG T 13768818 13768831 Haplotype 11542 RCV000012298 SCV000032532 76962 NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-07-01 OMIM OMIM Oral-facial-digital syndrome;OROFACIODIGITAL SYNDROME I 15221448;20301367 germline GeneReviews:NBK1188;Genetic Alliance:Orofaciodigital+syndromes/5428;MedGen:C1510460;OMIM:311200;Office of Rare Diseases:4121;Orphanet:2750;SNOMED CT:52868006 2004-07-01 X 22112123 T C 22112123 22112123 + Haplotype 10818 RCV000011565 SCV000031797 25857 PHEX NM_000444.5:c.755T>C NP_000435.3:p.Phe252Ser NM_000444.5:c.755T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-04-01 OMIM OMIM Familial X-linked hypophosphatemic vitamin D refractory rickets;HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 22319799;7550339;9106524 germline GeneReviews:NBK83985;Genetic Alliance:Familial+Hypophosphatemic+Rickets/2752;MedGen:C0733682;OMIM:307800;Office of Rare Diseases:6735;Orphanet:89936;SNOMED CT:82236004 1997-04-01 X 22112127 G A 22112127 22112127 + Haplotype 10818 RCV000011565 SCV000031797 38453 PHEX NM_000444.5:c.759G>A NP_000435.3:p.Met253Ile NM_000444.5:c.759G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-04-01 OMIM OMIM Familial X-linked hypophosphatemic vitamin D refractory rickets;HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 22319799;7550339;9106524 germline GeneReviews:NBK83985;Genetic Alliance:Familial+Hypophosphatemic+Rickets/2752;MedGen:C0733682;OMIM:307800;Office of Rare Diseases:6735;Orphanet:89936;SNOMED CT:82236004 1997-04-01 -X 100658834 G A 100658834 100658834 - Haplotype 10723 RCV000011470 SCV000031702 38452 GLA NM_000169.2:c.334C>T NP_000160.1:p.Arg112Cys NM_000169.2:c.334C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-01 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 -X 100658972 C G 100658972 100658972 - Haplotype 10723 RCV000011470 SCV000031702 25762 GLA NM_000169.2:c.196G>C NP_000160.1:p.Glu66Gln NM_000169.2:c.196G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-01 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 +X 100658834 G A 100658834 100658834 - Haplotype 10723 RCV000011470 SCV000031702 38452 GLA NM_000169.2:c.334C>T NP_000160.1:p.Arg112Cys NM_000169.2:c.334C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-01 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetic Testing Registry (GTR):GTR000558532;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 +X 100658972 C G 100658972 100658972 - Haplotype 10723 RCV000011470 SCV000031702 25762 GLA NM_000169.2:c.196G>C NP_000160.1:p.Glu66Gln NM_000169.2:c.196G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-01 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetic Testing Registry (GTR):GTR000558532;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 X 107823943 G T 107823943 107823943 + Haplotype 10464 RCV000011210 SCV000031437 35671 COL4A5 NM_033380.2:c.866G>T NP_203699.1:p.Gly289Val NM_000495.4:c.866G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1995-04-01 OMIM OMIM Alport syndrome, X-linked recessive;ALPORT SYNDROME, X-LINKED 20301386;22166944;7706490;9195222 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome/335;MedGen:C1567742;OMIM:301050;Orphanet:63;Orphanet:88917 1995-04-01 X 107929326 C T 107929326 107929326 + Haplotype 10464 RCV000011210 SCV000031437 38451 COL4A5 NM_033380.2:c.4282C>T NP_203699.1:p.Arg1428Cys NM_000495.4:c.4264C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1995-04-01 OMIM OMIM Alport syndrome, X-linked recessive;ALPORT SYNDROME, X-LINKED 20301386;22166944;7706490;9195222 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome/335;MedGen:C1567742;OMIM:301050;Orphanet:63;Orphanet:88917 1995-04-01 X 135738552 T A 135738552 135738552 + Haplotype 11158 RCV000011908 SCV000032141 26197 CD40LG NM_000074.2:c.384T>A NP_000065.1:p.Ser128Arg NM_000074.2:c.384T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-01-29 OMIM OMIM Immunodeficiency with hyper IgM type 1;IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 20301576;7678782 germline GeneReviews:NBK1402;Genetic Alliance:Immunodeficiency+with+hyper+IgM+type+1/3776;MedGen:C0398689;OMIM:308230;Office of Rare Diseases:73 1993-01-29 @@ -540,15 +613,7 @@ X 148564536 T A 148564536 148564536 - Haplotype 221203 RCV000204179 SCV000262516 X 153762605 G A 153762605 153762605 - Haplotype 10392 RCV000011127 SCV000031354 25430 G6PD NM_000402.4:c.682C>T NP_000393.4:p.Arg228Cys NM_001042351.2:c.592C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-08-01 OMIM OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664;4125296 germline MedGen:C4016535 1992-08-01 X 153762653 G A 153762653 153762653 - Haplotype 10392 RCV000011127 SCV000031354 38393 G6PD NM_000402.4:c.634C>T NP_000393.4:p.Arg212Trp NM_001042351.2:c.544C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-08-01 OMIM OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664;4125296 germline MedGen:C4016535 1992-08-01 X 153762655 T A 153762655 153762655 - Haplotype 10382 RCV000011109 SCV000031336 25421 G6PD NM_000402.4:c.632A>T NP_000393.4:p.Asp211Val NM_000402.4:c.632A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD SANTAMARIA;G6PD SANTAMARIA 1978554;1999409;6433630;8956035 germline OMIM:305900.0023 2017-05-24 -X 153763492 T C 153763492 153763492 - Haplotype 10361 RCV000011075 SCV000031301 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-03-31 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A- 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;Office of Rare Diseases:6520 2000-03-31 -X 153763492 T C 153763492 153763492 - Haplotype 10361 RCV000011076 SCV000031303 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD BETICA 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 -X 153763492 T C 153763492 153763492 - Haplotype 10361 RCV000011077 SCV000031304 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD CASTILLA 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 -X 153763492 T C 153763492 153763492 - Haplotype 10361 RCV000011078 SCV000031305 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD DISTRITO FEDERAL 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 -X 153763492 T C 153763492 153763492 - Haplotype 10361 RCV000011079 SCV000031306 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD TEPIC 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 +X 153763492 T C 153763492 153763492 - Haplotype 10361 RCV000011075 SCV000031301 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-03-31 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A- 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline Genetic Alliance:G6pd+a-/8448;Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;OMIM:305900.0002;OMIM:305900.0027;OMIM:305900.0028;Office of Rare Diseases:6520 2000-03-31 X 153763492 T C 153763492 153763492 - Haplotype 10382 RCV000011109 SCV000031336 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD SANTAMARIA;G6PD SANTAMARIA 1978554;1999409;6433630;8956035 germline OMIM:305900.0023 2017-05-24 X 153763551 G C 153763551 153763551 - Haplotype 10392 RCV000011127 SCV000031354 25431 G6PD NM_000402.4:c.407C>G NP_000393.4:p.Ser136Cys NM_001042351.2:c.317C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-08-01 OMIM OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664;4125296 germline MedGen:C4016535 1992-08-01 -X 153764217 C T 153764217 153764217 - Haplotype 10361 RCV000011075 SCV000031301 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-03-31 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A- 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;Office of Rare Diseases:6520 2000-03-31 -X 153764217 C T 153764217 153764217 - Haplotype 10361 RCV000011076 SCV000031303 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD BETICA 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 -X 153764217 C T 153764217 153764217 - Haplotype 10361 RCV000011077 SCV000031304 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD CASTILLA 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 -X 153764217 C T 153764217 153764217 - Haplotype 10361 RCV000011078 SCV000031305 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD DISTRITO FEDERAL 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 -X 153764217 C T 153764217 153764217 - Haplotype 10361 RCV000011079 SCV000031306 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD TEPIC 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 +X 153764217 C T 153764217 153764217 - Haplotype 10361 RCV000011075 SCV000031301 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-03-31 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A- 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline Genetic Alliance:G6pd+a-/8448;Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;OMIM:305900.0002;OMIM:305900.0027;OMIM:305900.0028;Office of Rare Diseases:6520 2000-03-31 diff --git a/output/b37/multi/clinvar_alleles.multi.b37.tsv.gz b/output/b37/multi/clinvar_alleles.multi.b37.tsv.gz index 26fbe49..8c2af67 100644 Binary files a/output/b37/multi/clinvar_alleles.multi.b37.tsv.gz and b/output/b37/multi/clinvar_alleles.multi.b37.tsv.gz differ diff --git a/output/b37/multi/clinvar_alleles.multi.b37.tsv.gz.tbi b/output/b37/multi/clinvar_alleles.multi.b37.tsv.gz.tbi index 630cea3..5429851 100644 Binary files a/output/b37/multi/clinvar_alleles.multi.b37.tsv.gz.tbi and b/output/b37/multi/clinvar_alleles.multi.b37.tsv.gz.tbi differ diff --git a/output/b37/multi/clinvar_alleles.multi.b37.vcf.gz b/output/b37/multi/clinvar_alleles.multi.b37.vcf.gz index d9c9e83..42aaad2 100644 Binary files a/output/b37/multi/clinvar_alleles.multi.b37.vcf.gz and b/output/b37/multi/clinvar_alleles.multi.b37.vcf.gz differ diff --git a/output/b37/multi/clinvar_alleles.multi.b37.vcf.gz.tbi b/output/b37/multi/clinvar_alleles.multi.b37.vcf.gz.tbi index 3e3d67d..445ee8e 100644 Binary files a/output/b37/multi/clinvar_alleles.multi.b37.vcf.gz.tbi and b/output/b37/multi/clinvar_alleles.multi.b37.vcf.gz.tbi differ diff --git a/output/b37/multi/clinvar_alleles_example_750_rows.multi.b37.tsv b/output/b37/multi/clinvar_alleles_example_750_rows.multi.b37.tsv index c0bdffe..8428e3c 100644 --- a/output/b37/multi/clinvar_alleles_example_750_rows.multi.b37.tsv +++ b/output/b37/multi/clinvar_alleles_example_750_rows.multi.b37.tsv @@ -1,7 +1,7 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_id symbol hgvs_c hgvs_p molecular_consequence clinical_significance clinical_significance_ordered pathogenic likely_pathogenic uncertain_significance likely_benign benign review_status review_status_ordered last_evaluated all_submitters submitters_ordered all_traits all_pmids inheritance_modes age_of_onset prevalence disease_mechanism origin xrefs dates_ordered gold_stars conflicted -1 7869953 C G 7869953 7869953 + Haplotype 224889 RCV000210468 SCV000266565 226735 PER3 NM_001289862.1:c.1243C>G NP_001276791.1:p.Pro415Ala NM_001289862.1:c.1243C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 23, 2017 OMIM OMIM Advanced sleep phase syndrome, familial, 3;ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (1 family) 26903630 germline MedGen:C4225169;OMIM:616882;Orphanet:164736 2016-10-17 1 0 +1 7869953 C G 7869953 7869953 + Haplotype 224889 RCV000210468 SCV000266565 226735 PER3 NM_001289862.1:c.1243C>G NP_001276791.1:p.Pro415Ala NM_001289862.1:c.1243C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 23, 2017 OMIM OMIM Advanced sleep phase syndrome, familial, 3;ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (1 family) 26903630 germline MedGen:C4225169;OMIM:616882;Orphanet:164736 2016-10-17 0 0 1 7869960 A G 7869960 7869960 + Haplotype 224889 RCV000210468 SCV000266565 226734 PER3 NM_001289862.1:c.1250A>G NP_001276791.1:p.His417Arg NM_001289862.1:c.1250A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 23, 2017 OMIM OMIM Advanced sleep phase syndrome, familial, 3;ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (1 family) 26903630 germline MedGen:C4225169;OMIM:616882;Orphanet:164736 2016-10-17 0 0 -1 8045031 G A 8045031 8045031 + Haplotype 60700 RCV000007484 SCV000027684 22107 PARK7 NM_007262.4:c.487G>A NP_009193.2:p.Glu163Lys NM_007262.4:c.487G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 08, 2012 OMIM OMIM Parkinson disease 7;PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 16240358;20301402;23279440 germline GeneReviews:NBK1223;Genetic Alliance:Parkinson+disease+7/9090;MedGen:C1853445;OMIM:602533.0001;OMIM:602533.0002;OMIM:602533.0003;OMIM:602533.0004;OMIM:602533.0005;OMIM:602533.0006;OMIM:606324;Orphanet:2828 2012-10-08 0 0 +1 8045031 G A 8045031 8045031 + Haplotype 446717 RCV000007484 SCV000027684 22107 PARK7 NM_007262.4:c.487G>A NP_009193.2:p.Glu163Lys NM_007262.4:c.487G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 2005 OMIM OMIM Parkinson disease 7;PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 16240358;20301402;23279440 germline GeneReviews:NBK1223;Genetic Alliance:Parkinson+disease+7/9090;MedGen:C1853445;OMIM:602533.0001;OMIM:602533.0002;OMIM:602533.0003;OMIM:602533.0004;OMIM:602533.0005;OMIM:602533.0006;OMIM:606324;Orphanet:2828 2005-11-01 0 0 1 25627552 C G 25627552 25627552 + Haplotype 202166;208474 RCV000184007;RCV000190496 SCV000236501;SCV000245368 198596 RHD NM_016124.4:c.602C>G NP_057208.2:p.Thr201Arg NM_016124.4:c.602C>G:missense variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 0 0 1 25628043 T G 25628043 25628043 + Haplotype 202166;208474 RCV000184007;RCV000190496 SCV000236501;SCV000245368 198597 RHD NM_016124.4:c.667T>G NP_057208.2:p.Phe223Val NM_016124.4:c.667T>G:missense variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 0 0 1 25628073 G C 25628073 25628073 + Haplotype 208474 RCV000190496 SCV000245368 204995 RHD NM_016124.4:c.697G>C NP_057208.2:p.Glu233Gln NM_016124.4:c.697G>C:missense variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression;Weak RhD expression unknown MedGen:CN231363 0000-00-00 0 0 @@ -9,76 +9,84 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 25628120 C T 25628120 25628120 + Haplotype 202166;208474 RCV000184007;RCV000190496 SCV000236501;SCV000245368 198598 RHD NM_016124.4:c.744C>T NP_057208.2:p.Ser248= NM_016124.4:c.744C>T:synonymous variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 0 0 1 25633104 G A 25633104 25633104 + Haplotype 202166 RCV000184007 SCV000236501 198599 RHD NM_016124.4:c.957G>A NP_057208.2:p.Val319= NM_001127691.2:c.939+3154G>A:intron variant;NM_016124.4:c.957G>A:synonymous variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 0 0 1 25633172 T C 25633172 25633172 + Haplotype 202166 RCV000184007 SCV000236501 198600 RHD NM_001127691.2:c.939+3222T>C NP_057208.2:p.Ile342Thr NM_001127691.2:c.939+3222T>C:intron variant;NM_016124.4:c.1025T>C:missense variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 0 0 -1 25633210 G A 25633210 25633210 + Haplotype 202166 RCV000184007 SCV000236501 198601 RHD NM_001127691.2:c.939+3260G>A NP_057208.2:p.Gly355Ser NM_001127691.2:c.939+3260G>A:intron variant;NM_016124.4:c.1063G>A:missense variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 0 0 +1 25633210 G A 25633210 25633210 + Haplotype 202166 RCV000184007 SCV000236501 198601 RHD NM_001127691.2:c.939+3260G>A NP_057208.2:p.Gly355Ser NM_001127691.2:c.939+3260G>A:intron variant;NM_016124.4:c.1063G>A:missense variant risk factor not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided Sep 30, 2014 Colsan Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 0 0 1 25701876 C T 25701876 25701876 + Haplotype 208474 RCV000190496 SCV000245368 204997 RHD - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression;Weak RhD expression unknown MedGen:CN231363 0000-00-00 0 0 1 25747230 G C 25747230 25747230 - Haplotype 17709 RCV000019283 SCV000039571 32748 RHCE NM_020485.5:c.48G= NP_065231.3:p.Trp16= NM_020485.5:c.48G=:synonymous variant - benign 0 0 0 0 1 no assertion for the individual variant no assertion criteria provided Sep 01, 1993 OMIM OMIM RH C/c POLYMORPHISM;RH C/c POLYMORPHISM 8220426 germline OMIM:111700.0002 1993-09-01 0 0 -1 53676401 T G 53676401 53676401 + Haplotype 30118 RCV000023026 SCV000044317 39073 CPT2 NM_000098.2:c.1055T>G NP_000089.1:p.Phe352Cys NM_000098.2:c.1055T>G:missense variant Benign/Likely benign risk factor 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Feb 07, 2017 OMIM OMIM Encephalopathy, acute, infection-induced, 4, susceptibility to;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 15811315;18306170;20934285;21697855 germline Genetic Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308;MedGen:C3280160;OMIM:614212;Orphanet:263524 2011-08-01 2 0 +1 53676401 T G 53676401 53676401 + Haplotype 30118 RCV000023026 SCV000044317 39073 CPT2 NM_000098.2:c.1055T>G NP_000089.1:p.Phe352Cys NM_000098.2:c.1055T>G:missense variant Benign/Likely benign risk factor 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Aug 07, 2017 OMIM OMIM Encephalopathy, acute, infection-induced, 4, susceptibility to;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 15811315;18306170;20934285;21697855 germline Genetic Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308;MedGen:C3280160;OMIM:614212;Orphanet:263524 2011-08-01 2 0 1 53676448 G A 53676448 53676448 + Haplotype 30118 RCV000023026 SCV000044317 39074 CPT2 NM_000098.2:c.1102G>A NP_000089.1:p.Val368Ile NM_000098.2:c.1102G>A:missense variant Benign risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Encephalopathy, acute, infection-induced, 4, susceptibility to;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 15811315;18306170;20934285;21697855 germline Genetic Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308;MedGen:C3280160;OMIM:614212;Orphanet:263524 2011-08-01 0 0 -1 53676583 CAG C 53676585 53676586 + Haplotype 60702 RCV000202553 SCV000153666 98339 CPT2 NM_000098.2:c.1239_1240delGA NP_000089.1:p.Lys414Thrfs NM_000098.2:c.1239_1240delGA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 30, 2017 GeneReviews GeneReviews Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency 10090476;20301431;25173338 germline GeneReviews:NBK1253;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 2014-05-15 2 0 -1 53676688 T C 53676688 53676688 + Haplotype 60702 RCV000202553 SCV000153666 23999 CPT2 NM_000098.2:c.1342T>C NP_000089.1:p.Phe448Leu NM_000098.2:c.1342T>C:missense variant Conflicting interpretations of pathogenicity, other pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 08, 2015 GeneReviews GeneReviews Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency 10090476;20301431;25173338 germline GeneReviews:NBK1253;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 2014-05-15 0 1 +1 53676583 CAG C 53676585 53676586 + Haplotype 60702 RCV000009520;RCV000202553 SCV000029738;SCV000153666 98339 CPT2 NM_000098.2:c.1239_1240delGA NP_000089.1:p.Lys414Thrfs NM_000098.2:c.1239_1240delGA:frameshift variant Pathogenic pathogenic 2 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 30, 2017 OMIM;GeneReviews OMIM;GeneReviews Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED;Carnitine palmitoyltransferase II deficiency 10090476;11477613;12410208;20301431;25173338 germline GeneReviews:NBK1253;MedGen:C1833508;OMIM:255110;Orphanet:157;Orphanet:228302;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 2002-11-01;2014-05-15 2 0 +1 53676688 T C 53676688 53676688 + Haplotype 60702 RCV000009520;RCV000202553 SCV000029738;SCV000153666 23999 CPT2 NM_000098.2:c.1342T>C NP_000089.1:p.Phe448Leu NM_000098.2:c.1342T>C:missense variant Conflicting interpretations of pathogenicity, other pathogenic 2 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Nov 18, 2016 OMIM;GeneReviews OMIM;GeneReviews Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED;Carnitine palmitoyltransferase II deficiency 10090476;11477613;12410208;20301431;25173338 germline GeneReviews:NBK1253;MedGen:C1833508;OMIM:255110;Orphanet:157;Orphanet:228302;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 2002-11-01;2014-05-15 1 1 1 55331078 C G 55331078 55331078 - Haplotype 4368 RCV000004616 SCV000024790 38433 DHCR24 NM_014762.3:c.918G>C NP_055577.1:p.Lys306Asn NM_014762.3:c.918G>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 01, 2001 OMIM OMIM Desmosterolosis;DESMOSTEROLOSIS 11519011 germline GeneTests:238860;Genetic Alliance:Desmosterolosis/2221;MedGen:C1865596;OMIM:602398;Office of Rare Diseases:10283;Orphanet:35107 2001-10-01 0 0 1 55331115 T G 55331115 55331115 - Haplotype 4368 RCV000004616 SCV000024790 19407 DHCR24 NM_014762.3:c.881A>C NP_055577.1:p.Asn294Thr NM_014762.3:c.881A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 01, 2001 OMIM OMIM Desmosterolosis;DESMOSTEROLOSIS 11519011 germline GeneTests:238860;Genetic Alliance:Desmosterolosis/2221;MedGen:C1865596;OMIM:602398;Office of Rare Diseases:10283;Orphanet:35107 2001-10-01 0 0 1 94467548 C G 94467548 94467548 - Haplotype 236131 RCV000408516 SCV000281924 22923 ABCA4 NM_000350.2:c.6148G>C NP_000341.2:p.Val2050Leu NM_000350.2:c.6148G>C:missense variant Conflicting interpretations of pathogenicity likely pathogenic 0 1 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Feb 17, 2017 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 1 1 -1 94471055 C T 94471055 94471055 - Haplotype 236068 RCV000408532 SCV000281790 105317 ABCA4 NM_000350.2:c.6089G>A NP_000341.2:p.Arg2030Gln NM_000350.2:c.6089G>A:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jun 02, 2017 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 0 0 +1 94471055 C T 94471055 94471055 - Haplotype 236068 RCV000408532 SCV000281790 105317 ABCA4 NM_000350.2:c.6089G>A NP_000341.2:p.Arg2030Gln NM_000350.2:c.6089G>A:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 02, 2017 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 2 0 1 94480178 G T 94480178 94480178 - Haplotype 236131 RCV000408516 SCV000281924 105260 ABCA4 NM_000350.2:c.5381C>A NP_000341.2:p.Ala1794Asp NM_000350.2:c.5381C>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Jan 01, 2016 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 0 0 1 94485181 A C 94485181 94485181 - Haplotype 236092 RCV000408474 SCV000281849 237656 ABCA4 NM_000350.2:c.5153T>G NP_000341.2:p.Val1718Gly NM_000350.2:c.5153T>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jan 01, 2016 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 0 0 -1 94492973 G A 94492973 94492973 - Haplotype 225694 RCV000211040 SCV000267675 227509 ABCA4 NM_000350.2:c.4539+2028C>T NM_000350.2:c.4539+2028C>T:intron variant Uncertain significance likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Jan 01, 2016 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Stargardt disease 1 26527198;28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 0000-00-00 0 0 +1 94492973 G A 94492973 94492973 - Haplotype 225694 RCV000211040 SCV000267675 227509 ABCA4 NM_000350.2:c.4539+2028C>T NM_000350.2:c.4539+2028C>T:intron variant Uncertain significance likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Jan 01, 2016 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Stargardt disease 1 26527198;28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 0000-00-00 1 0 1 94508356 T A 94508356 94508356 - Haplotype 236091 RCV000408579 SCV000281848 237681 ABCA4 NM_000350.2:c.3289A>T NP_000341.2:p.Arg1097Ter NM_000350.2:c.3289A>T:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jan 01, 2016 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 0 0 1 94508969 G A 94508969 94508969 - Haplotype 7901 RCV000008358;RCV000008359 SCV000028566;SCV000028567 22933 ABCA4 NM_000350.2:c.3113C>T NP_000341.2:p.Ala1038Val NM_000350.2:c.3113C>T:missense variant Pathogenic/Likely pathogenic pathogenic 2 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 21, 2017 OMIM OMIM Stargardt disease 1;STARGARDT DISEASE 1;Cone-rod dystrophy 3 10958761;10958763;12796258;16103129;28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827;Genetic Alliance:Cone-Rod+Dystrophy+3/1769;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1858806;OMIM:604116;Office of Rare Diseases:10653;Orphanet:1872 2005-10-01 2 0 -1 94517254 C G 94517254 94517254 - Haplotype 236091;236092 RCV000408579;RCV000408474 SCV000281848;SCV000281849 22918 ABCA4 NM_000350.2:c.2588G>C NP_000341.2:p.Gly863Ala NM_000350.2:c.2588G>C:missense variant Conflicting interpretations of pathogenicity pathogenic 2 0 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Mar 24, 2017 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 1 1 +1 94517254 C G 94517254 94517254 - Haplotype 236091;236092 RCV000408579;RCV000408474 SCV000281848;SCV000281849 22918 ABCA4 NM_000350.2:c.2588G>C NP_000341.2:p.Gly863Ala NM_000350.2:c.2588G>C:missense variant Conflicting interpretations of pathogenicity pathogenic 2 0 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Oct 19, 2017 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 1 1 1 94528806 A G 94528806 94528806 - Haplotype 7901 RCV000008358;RCV000008359 SCV000028566;SCV000028567 22940 ABCA4 NM_000350.2:c.1622T>C NP_000341.2:p.Leu541Pro NM_000350.2:c.1622T>C:missense variant Conflicting interpretations of pathogenicity pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 12, 2017 OMIM OMIM Stargardt disease 1;STARGARDT DISEASE 1;Cone-rod dystrophy 3 10958761;10958763;12796258;16103129;28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827;Genetic Alliance:Cone-Rod+Dystrophy+3/1769;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1858806;OMIM:604116;Office of Rare Diseases:10653;Orphanet:1872 2005-10-01 0 1 1 94576926 G A 94576926 94576926 - Haplotype 225694 RCV000211040 SCV000267675 227508 ABCA4 NM_000350.2:c.302+68C>T NM_000350.2:c.302+68C>T:intron variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter - Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Stargardt disease 1 26527198;28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 0000-00-00 0 0 1 94586601 T C 94586601 94586601 - Haplotype 236068 RCV000408532 SCV000281790 104999 ABCA4 NM_000350.2:c.1A>G NP_000341.2:p.Met1Val NM_000350.2:c.1A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 23, 2016 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 2 0 -1 116269619 T C 116269619 116269619 - Haplotype 228471 RCV000217394 SCV000271536 44436 CASQ2 NM_001232.3:c.731A>G NP_001223.2:p.His244Arg NM_001232.3:c.731A>G:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Jan 18, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-02-05 1 1 -1 116269620 G A 116269620 116269620 - Haplotype 228471 RCV000217394 SCV000271536 228262 CASQ2 NM_001232.3:c.730C>T NP_001223.2:p.His244Tyr NM_001232.3:c.730C>T:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Aug 10, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-02-05 1 1 -1 155204994 C G 155204994 155204994 - Haplotype 4297 RCV000004533;RCV000004534;RCV000004535;RCV000004536 SCV000024707;SCV000024708;SCV000024709;SCV000024710 38385 GBA NM_001005741.2:c.1497G>C NP_001005741.1:p.Val499= NM_001005741.2:c.1497G>C:synonymous variant Benign/Likely benign pathogenic 4 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Apr 04, 2016 OMIM OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 10685993;1437405;1594045;18197057;1899336;1972019;19888064;20301446;7857677;8118460;8929950 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:77261;SNOMED CT:5963005;Genetic Alliance:Gaucher+Disease+Perinatal+Lethal/3001;MedGen:C1842704;OMIM:608013 2000-03-01 2 0 +1 116269619 T C 116269619 116269619 - Haplotype 228471 RCV000217394 SCV000271536 44436 CASQ2 NM_001232.3:c.731A>G NP_001223.2:p.His244Arg NM_001232.3:c.731A>G:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Jul 28, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-02-05 1 1 +1 116269620 G A 116269620 116269620 - Haplotype 228471 RCV000217394 SCV000271536 228262 CASQ2 NM_001232.3:c.730C>T NP_001223.2:p.His244Tyr NM_001232.3:c.730C>T:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Jul 21, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-02-05 0 1 +1 155204994 C G 155204994 155204994 - Haplotype 4297 RCV000004533;RCV000004534;RCV000004535;RCV000004536 SCV000024707;SCV000024708;SCV000024709;SCV000024710 38385 GBA NM_001005741.2:c.1497G>C NP_001005741.1:p.Val499= NM_001005741.2:c.1497G>C:synonymous variant Benign/Likely benign pathogenic 4 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 21, 2017 OMIM OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 10685993;1437405;1594045;18197057;1899336;1972019;19888064;20301446;7857677;8118460;8929950 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:77261;SNOMED CT:5963005;Genetic Alliance:Gaucher+Disease+Perinatal+Lethal/3001;MedGen:C1842704;OMIM:608013 2000-03-01 2 0 1 155205008 C G 155205008 155205008 - Haplotype 4297 RCV000004533;RCV000004534;RCV000004535;RCV000004536 SCV000024707;SCV000024708;SCV000024709;SCV000024710 38384 GBA NM_001005741.2:c.1483G>C NP_001005741.1:p.Ala495Pro NM_001005741.2:c.1483G>C:missense variant Benign pathogenic 4 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jul 24, 2012 OMIM OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 10685993;1437405;1594045;18197057;1899336;1972019;19888064;20301446;7857677;8118460;8929950 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:77261;SNOMED CT:5963005;Genetic Alliance:Gaucher+Disease+Perinatal+Lethal/3001;MedGen:C1842704;OMIM:608013 2000-03-01 1 0 -1 155205043 A G 155205043 155205043 - Haplotype 4297 RCV000004533;RCV000004534;RCV000004535;RCV000004536 SCV000024707;SCV000024708;SCV000024709;SCV000024710 19327 GBA NM_001005741.2:c.1448T>C NP_001005741.1:p.Leu483Pro NM_001005741.2:c.1448T>C:missense variant Pathogenic, risk factor pathogenic 4 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Sep 23, 2016 OMIM OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 10685993;1437405;1594045;18197057;1899336;1972019;19888064;20301446;7857677;8118460;8929950 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:77261;SNOMED CT:5963005;Genetic Alliance:Gaucher+Disease+Perinatal+Lethal/3001;MedGen:C1842704;OMIM:608013 2000-03-01 2 0 -1 155205518 C G 155205518 155205518 - Haplotype 4334 RCV000004580;RCV000004581 SCV000024754;SCV000024755 19332 GBA NM_001005741.2:c.1342G>C NP_001005741.1:p.Asp448His NM_001005741.2:c.1342G>C:missense variant Pathogenic pathogenic 2 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Aug 29, 2016 OMIM OMIM Acute neuronopathic Gaucher's disease;GAUCHER DISEASE, TYPE II;Subacute neuronopathic Gaucher's disease 15690354;20301446 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:355;Orphanet:77261;SNOMED CT:5963005 2005-04-01 2 0 +1 155205043 A G 155205043 155205043 - Haplotype 4297 RCV000004533;RCV000004534;RCV000004535;RCV000004536 SCV000024707;SCV000024708;SCV000024709;SCV000024710 19327 GBA NM_001005741.2:c.1448T>C NP_001005741.1:p.Leu483Pro NM_001005741.2:c.1448T>C:missense variant Pathogenic, risk factor pathogenic 4 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 23, 2016 OMIM OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 10685993;1437405;1594045;18197057;1899336;1972019;19888064;20301446;7857677;8118460;8929950 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:77261;SNOMED CT:5963005;Genetic Alliance:Gaucher+Disease+Perinatal+Lethal/3001;MedGen:C1842704;OMIM:608013 2000-03-01 0 0 +1 155205518 C G 155205518 155205518 - Haplotype 4334 RCV000004580;RCV000004581 SCV000024754;SCV000024755 19332 GBA NM_001005741.2:c.1342G>C NP_001005741.1:p.Asp448His NM_001005741.2:c.1342G>C:missense variant Pathogenic/Likely pathogenic pathogenic 2 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Aug 29, 2016 OMIM OMIM Acute neuronopathic Gaucher's disease;GAUCHER DISEASE, TYPE II;Subacute neuronopathic Gaucher's disease 15690354;20301446 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:355;Orphanet:77261;SNOMED CT:5963005 2005-04-01 2 0 1 155206167 C T 155206167 155206167 - Haplotype 4299 RCV000004538 SCV000024712 38432 GBA NM_001005741.2:c.1093G>A NP_001005741.1:p.Glu365Lys NM_001005741.2:c.1093G>A:missense variant Conflicting interpretations of pathogenicity, risk factor pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 28, 2017 OMIM OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I 10079102;11903352;15146461;18197057;1864608;19888064;20301446 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009 2004-06-01 0 1 1 155207249 A C 155207249 155207249 - Haplotype 4334 RCV000004580;RCV000004581 SCV000024754;SCV000024755 19373 GBA NM_001005741.2:c.882T>G NP_001005741.1:p.His294Gln NM_001005741.2:c.882T>G:missense variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 01, 2005 OMIM OMIM Acute neuronopathic Gaucher's disease;GAUCHER DISEASE, TYPE II;Subacute neuronopathic Gaucher's disease 15690354;20301446 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:355;Orphanet:77261;SNOMED CT:5963005 2005-04-01 0 0 1 155208361 C G 155208361 155208361 - Haplotype 4299 RCV000004538 SCV000024712 19338 GBA NM_001005741.2:c.535G>C NP_001005741.1:p.Asp179His NM_001005741.2:c.535G>C:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Feb 28, 2017 OMIM OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I 10079102;11903352;15146461;18197057;1864608;19888064;20301446 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009 2004-06-01 1 0 1 156830751 C T 156830751 156830751 + Haplotype 12304 RCV000030667 SCV000033344 27343 NTRK1 NM_002529.3:c.25C>T NP_002520.2:p.Gln9Ter NM_001007792.1:c.123-3395C>T:intron variant;NM_001012331.1:c.25C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 05, 2008 OMIM OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344;11159935;20301726 germline GeneReviews:NBK1769;Genetic Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832;MedGen:C0020074;OMIM:256800;Office of Rare Diseases:3006;Orphanet:642;SNOMED CT:62985007 2001-02-01 0 0 -1 156848918 C T 156848918 156848918 + Haplotype 12304 RCV000030667 SCV000033344 38397 NTRK1 NM_002529.3:c.1810C>T NP_002520.2:p.His604Tyr NM_001007792.1:c.1702C>T:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344;11159935;20301726 germline GeneReviews:NBK1769;Genetic Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832;MedGen:C0020074;OMIM:256800;Office of Rare Diseases:3006;Orphanet:642;SNOMED CT:62985007 2001-02-01 0 1 -1 156848946 G T 156848946 156848946 + Haplotype 12304 RCV000030667 SCV000033344 27347 NTRK1 NM_002529.3:c.1838G>T NP_002520.2:p.Gly613Val NM_001007792.1:c.1730G>T:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jun 14, 2016 OMIM OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344;11159935;20301726 germline GeneReviews:NBK1769;Genetic Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832;MedGen:C0020074;OMIM:256800;Office of Rare Diseases:3006;Orphanet:642;SNOMED CT:62985007 2001-02-01 1 1 +1 156848918 C T 156848918 156848918 + Haplotype 12304 RCV000030667 SCV000033344 38397 NTRK1 NM_002529.3:c.1810C>T NP_002520.2:p.His604Tyr NM_001007792.1:c.1702C>T:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 08, 2017 OMIM OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344;11159935;20301726 germline GeneReviews:NBK1769;Genetic Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832;MedGen:C0020074;OMIM:256800;Office of Rare Diseases:3006;Orphanet:642;SNOMED CT:62985007 2001-02-01 0 1 +1 156848946 G T 156848946 156848946 + Haplotype 12304 RCV000030667 SCV000033344 27347 NTRK1 NM_002529.3:c.1838G>T NP_002520.2:p.Gly613Val NM_001007792.1:c.1730G>T:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Aug 08, 2017 OMIM OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344;11159935;20301726 germline GeneReviews:NBK1769;Genetic Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832;MedGen:C0020074;OMIM:256800;Office of Rare Diseases:3006;Orphanet:642;SNOMED CT:62985007 2001-02-01 1 1 1 161276217 G C 161276217 161276217 - Haplotype 14182 RCV000015246 SCV000035505 38403 MPZ NM_000530.7:c.486C>G NP_000521.2:p.Ile162Met NM_000530.7:c.486C>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 01, 2002 OMIM OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375;20301462;9222756 germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 2002-02-01 0 0 1 161276564 C T 161276564 161276564 - Haplotype 14180 RCV000015243 SCV000035502 38402 MPZ NM_000530.7:c.382G>A NP_000521.2:p.Asp128Asn NM_000530.7:c.382G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1997 OMIM OMIM Dejerine-sottas syndrome, sporadic;DEJERINE-SOTTAS SYNDROME, SPORADIC 9222756 germline MedGen:C4016265 1997-01-01 0 0 1 161276600 T G 161276600 161276600 - Haplotype 14180 RCV000015243 SCV000035502 38401 MPZ NM_000530.7:c.346A>C NP_000521.2:p.Asn116His NM_000530.7:c.346A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1997 OMIM OMIM Dejerine-sottas syndrome, sporadic;DEJERINE-SOTTAS SYNDROME, SPORADIC 9222756 germline MedGen:C4016265 1997-01-01 0 0 -1 161276605 A G 161276605 161276605 - Haplotype 14180 RCV000015243 SCV000035502 29219 MPZ NM_000530.7:c.341T>C NP_000521.2:p.Ile114Thr NM_000530.7:c.341T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1997 OMIM OMIM Dejerine-sottas syndrome, sporadic;DEJERINE-SOTTAS SYNDROME, SPORADIC 9222756 germline MedGen:C4016265 1997-01-01 0 0 +1 161276605 A G 161276605 161276605 - Haplotype 14180 RCV000015243 SCV000035502 29219 MPZ NM_000530.7:c.341T>C NP_000521.2:p.Ile114Thr NM_000530.7:c.341T>C:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 25, 2017 OMIM OMIM Dejerine-sottas syndrome, sporadic;DEJERINE-SOTTAS SYNDROME, SPORADIC 9222756 germline MedGen:C4016265 1997-01-01 0 0 1 161276609 C A 161276609 161276609 - Haplotype 208147 RCV000194363 SCV000243903 49442 MPZ NM_000530.7:c.337G>T NP_000521.2:p.Val113Phe NM_000530.7:c.337G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 26, 2015 GeneReviews GeneReviews Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type IB 20301384 germline GeneReviews:NBK1205;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+1B/1285;MedGen:C0270912;OMIM:118200;Office of Rare Diseases:1246;Orphanet:101082;SNOMED CT:42986003 2015-03-26 0 0 -1 161276672 C T 161276672 161276672 - Haplotype 14182 RCV000015246 SCV000035505 38404 MPZ NM_000530.7:c.274G>A NP_000521.2:p.Val92Met NM_000530.7:c.274G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 01, 2002 OMIM OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375;20301462;9222756 germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 2002-02-01 0 0 -1 161276680 A T 161276680 161276680 - Haplotype 14182 RCV000015246 SCV000035505 29221 MPZ NM_000530.7:c.266T>A NP_000521.2:p.Ile89Asn NM_000530.7:c.266T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 01, 2002 OMIM OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375;20301462;9222756 germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 2002-02-01 0 0 +1 161276672 C T 161276672 161276672 - Haplotype 14182 RCV000015246 SCV000035505 38404 MPZ NM_000530.7:c.274G>A NP_000521.2:p.Val92Met NM_000530.7:c.274G>A:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 21, 2017 OMIM OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375;20301462;9222756 germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 2002-02-01 0 0 +1 161276680 A T 161276680 161276680 - Haplotype 14182 RCV000015246 SCV000035505 29221 MPZ NM_000530.7:c.266T>A NP_000521.2:p.Ile89Asn NM_000530.7:c.266T>A:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 21, 2017 OMIM OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375;20301462;9222756 germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 2002-02-01 0 0 1 161276705 G A 161276705 161276705 - Haplotype 208147 RCV000194363 SCV000243903 49438 MPZ NM_000530.7:c.241C>T NP_000521.2:p.His81Tyr NM_000530.7:c.241C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 26, 2015 GeneReviews GeneReviews Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type IB 20301384 germline GeneReviews:NBK1205;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+1B/1285;MedGen:C0270912;OMIM:118200;Office of Rare Diseases:1246;Orphanet:101082;SNOMED CT:42986003 2015-03-26 0 0 1 161599693 T C 161599693 161599693 - Haplotype 36924 RCV000030607 SCV000053285 45587 FCGR3B NM_000570.4:c.194A>G NP_000561.3:p.Asn65Ser NM_000570.4:c.194A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 1989 OMIM OMIM Neutrophil-specific antigens na1/na2;NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2 2478590 germline MedGen:C4017227 1989-11-01 0 0 1 171076966 G A 171076966 171076966 + Haplotype 16318;217371 RCV000017711;RCV000201276;RCV000201278 SCV000037988;SCV000256060;SCV000256061 38476 FMO3 NM_006894.5:c.472G>A NP_008825.4:p.Glu158Lys NM_001002294.2:c.472G>A:missense variant Benign pathogenic;likely pathogenic 2 1 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 14, 2016 OMIM;GeneReviews OMIM;GeneReviews Trimethylaminuria, mild;TRIMETHYLAMINURIA, MILD;Trimethylaminuria 10485731;10896299;11809920;20301282;22126753;19321370 loss of function germline MedGen:C4016101;GeneReviews:NBK1103;Genetic Alliance:Trimethylaminuria/7223;Genetic Testing Registry (GTR):GTR000505067;Genetic Testing Registry (GTR):GTR000518973;Genetic Testing Registry (GTR):GTR000520120;MedGen:C0342739;OMIM:602079;Office of Rare Diseases:6447;SNOMED CT:237959005 1999-09-04;2015-10-01 2 0 1 171077295 T C 171077295 171077295 + Haplotype 217371 RCV000201278 SCV000256061 214011 FMO3 NM_006894.5:c.560T>C NP_008825.4:p.Val187Ala NM_001002294.2:c.560T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 01, 2015 GeneReviews GeneReviews Trimethylaminuria 19321370;20301282;22126753 loss of function germline GeneReviews:NBK1103;Genetic Alliance:Trimethylaminuria/7223;Genetic Testing Registry (GTR):GTR000505067;Genetic Testing Registry (GTR):GTR000518973;Genetic Testing Registry (GTR):GTR000520120;MedGen:C0342739;OMIM:602079;Office of Rare Diseases:6447;SNOMED CT:237959005 2015-10-01 0 0 -1 171083242 A G 171083242 171083242 + Haplotype 16318 RCV000017711;RCV000201276 SCV000037988;SCV000256060 31357 FMO3 NM_006894.5:c.923A>G NP_008825.4:p.Glu308Gly NM_001002294.2:c.923A>G:missense variant Benign pathogenic;likely pathogenic 1 1 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 14, 2016 OMIM;GeneReviews OMIM;GeneReviews Trimethylaminuria, mild;TRIMETHYLAMINURIA, MILD;Trimethylaminuria 10485731;10896299;11809920;20301282;22126753 loss of function germline MedGen:C4016101;GeneReviews:NBK1103;Genetic Alliance:Trimethylaminuria/7223;Genetic Testing Registry (GTR):GTR000505067;Genetic Testing Registry (GTR):GTR000518973;Genetic Testing Registry (GTR):GTR000520120;MedGen:C0342739;OMIM:602079;Office of Rare Diseases:6447;SNOMED CT:237959005 1999-09-04;2015-10-01 2 0 +1 171083242 A G 171083242 171083242 + Haplotype 16318 RCV000017711;RCV000201276 SCV000037988;SCV000256060 31357 FMO3 NM_006894.5:c.923A>G NP_008825.4:p.Glu308Gly NM_001002294.2:c.923A>G:missense variant Benign pathogenic;likely pathogenic 1 1 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM;GeneReviews OMIM;GeneReviews Trimethylaminuria, mild;TRIMETHYLAMINURIA, MILD;Trimethylaminuria 10485731;10896299;11809920;20301282;22126753 loss of function germline MedGen:C4016101;GeneReviews:NBK1103;Genetic Alliance:Trimethylaminuria/7223;Genetic Testing Registry (GTR):GTR000505067;Genetic Testing Registry (GTR):GTR000518973;Genetic Testing Registry (GTR):GTR000520120;MedGen:C0342739;OMIM:602079;Office of Rare Diseases:6447;SNOMED CT:237959005 1999-09-04;2015-10-01 0 0 1 179545050 C A 179545050 179545050 - Haplotype 225143 RCV000210779 SCV000266491 227036 NPHS2 NM_014625.3:c.-51G>T NM_014625.3:c.-51G>T:5 prime UTR variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 Human Genetics Disease in Children – Taif University,Taif University Human Genetics Disease in Children – Taif University,Taif University Nephrotic syndrome, idiopathic, steroid-resistant unknown Genetic Alliance:Nephrotic+syndrome%2C+idiopathic%2C+steroid-resistant/5149;MedGen:C1868672;OMIM:600995;Office of Rare Diseases:3946;Orphanet:656 2016-01-01 0 1 1 179545051 G C 179545051 179545051 - Haplotype 225143 RCV000210779 SCV000266491 227037 NPHS2 NM_014625.3:c.-52C>G NM_014625.3:c.-52C>G:5 prime UTR variant Likely benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 Human Genetics Disease in Children – Taif University,Taif University Human Genetics Disease in Children – Taif University,Taif University Nephrotic syndrome, idiopathic, steroid-resistant unknown Genetic Alliance:Nephrotic+syndrome%2C+idiopathic%2C+steroid-resistant/5149;MedGen:C1868672;OMIM:600995;Office of Rare Diseases:3946;Orphanet:656 2016-01-01 0 0 1 183543642 T C 183543642 183543642 - Haplotype 2240 RCV000002328 SCV000022486 38423 NCF2 NM_000433.3:c.481A>G NP_000424.2:p.Lys161Glu NM_000433.3:c.481A>G:missense variant;NM_001190789.1:c.366+3092A>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 24, 1997 OMIM OMIM Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II 22876374;9070911 germline GeneReviews:NBK99496;Genetic Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977;MedGen:C1856245;OMIM:233710;Orphanet:379 1997-02-24 0 0 1 183543644 T A 183543644 183543644 - Haplotype 2240 RCV000002328 SCV000022486 17279 NCF2 NM_000433.3:c.479A>T NP_000424.2:p.Asp160Val NM_000433.3:c.479A>T:missense variant;NM_001190789.1:c.366+3090A>T:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 24, 1997 OMIM OMIM Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II 22876374;9070911 germline GeneReviews:NBK99496;Genetic Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977;MedGen:C1856245;OMIM:233710;Orphanet:379 1997-02-24 0 0 +1 207627693 T C 207627693 207627693 + Haplotype 17065 RCV000018594 SCV000038877 472254 CR2 NM_001006658.2:c.-71T>C - risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 06, 2007 OMIM OMIM Systemic lupus erythematosus 9;SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 17360460 germline Genetics Home Reference:systemic-lupus-erythematosus;MedGen:C1970455;OMIM:120650.0001;OMIM:610927 2007-03-06 0 0 +1 207646322 G A 207646322 207646322 + Haplotype 17065 RCV000018594 SCV000038877 389365 CR2 NM_001006658.2:c.1776G>A NP_001006659.1:p.Leu592= NM_001006658.2:c.1776G>A:synonymous variant Benign risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 28, 2016 OMIM OMIM Systemic lupus erythematosus 9;SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 17360460 germline Genetics Home Reference:systemic-lupus-erythematosus;MedGen:C1970455;OMIM:120650.0001;OMIM:610927 2007-03-06 0 0 +1 207646462 G A 207646462 207646462 + Haplotype 17065 RCV000018594 SCV000038877 389363 CR2 NM_001006658.2:c.1916G>A NP_001006659.1:p.Ser639Asn NM_001006658.2:c.1916G>A:missense variant Benign risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 28, 2016 OMIM OMIM Systemic lupus erythematosus 9;SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 17360460 germline Genetics Home Reference:systemic-lupus-erythematosus;MedGen:C1970455;OMIM:120650.0001;OMIM:610927 2007-03-06 0 0 1 209880216 C CA 209880218 209880218 + Haplotype 8911 RCV000009466 SCV000029684 23950 HSD11B1 NM_181755.2:c.331+53_331+54insA NM_181755.2:c.331+53_331+54insA:intron variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 2007 OMIM OMIM Cortisone reductase deficiency 2;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 12858176;15827106;16091483;16817821;17062770 germline Genetic Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103;MedGen:C3553382;OMIM:614662;Orphanet:168588 2007-01-01 0 0 1 209880259 T G 209880259 209880259 + Haplotype 8911 RCV000009466 SCV000029684 76328 HSD11B1 NM_181755.2:c.332-29T>G NM_181755.2:c.332-29T>G:intron variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 2007 OMIM OMIM Cortisone reductase deficiency 2;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 12858176;15827106;16091483;16817821;17062770 germline Genetic Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103;MedGen:C3553382;OMIM:614662;Orphanet:168588 2007-01-01 0 0 -1 211093297 C G 211093297 211093297 - Haplotype 203434 RCV000185594 SCV000238503 181518 KCNH1 NM_172362.2:c.1147G>C NP_758872.1:p.Val383Leu NM_172362.2:c.1147G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 2015 OMIM OMIM Zimmermann-Laband syndrome 1;ZIMMERMANN-LABAND SYNDROME 1 18541964;25915598 germline Gene:353173;Genetic Alliance:Laband+syndrome/4062;MedGen:CN032818;OMIM:135500;Orphanet:3473 2015-06-01 0 0 -1 211093389 G T 211093389 211093389 - Haplotype 203434 RCV000185594 SCV000238503 181521 KCNH1 NM_002238.3:c.974C>A NP_758872.1:p.Ser352Tyr NM_172362.2:c.1055C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 01, 2015 OMIM OMIM Zimmermann-Laband syndrome 1;ZIMMERMANN-LABAND SYNDROME 1 18541964;25915598 germline Gene:353173;Genetic Alliance:Laband+syndrome/4062;MedGen:CN032818;OMIM:135500;Orphanet:3473 2015-06-01 0 0 -1 227170697 C T 227170697 227170697 + Haplotype 217876 RCV000201953 SCV000256872 214530 COQ8A NM_020247.4:c.1042C>T NP_064632.2:p.Arg348Ter NM_020247.4:c.1042C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jan 23, 2017 Mendelics Analise Genomica Mendelics Analise Genomica Coenzyme Q10 deficiency, primary, 4 18319072;20580948;28125198 germline GeneReviews:NBK410087;Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342;MedGen:C2677589;OMIM:612016;Orphanet:139485 2014-06-16 2 0 +1 211093297 C G 211093297 211093297 - Haplotype 203434 RCV000185594 SCV000238503 181518 KCNH1 NM_172362.2:c.1147G>C NP_758872.1:p.Val383Leu NM_172362.2:c.1147G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 01, 2015 OMIM OMIM Zimmermann-Laband syndrome 1;ZIMMERMANN-LABAND SYNDROME 1 18541964;25915598 germline Gene:353173;Genetic Alliance:Laband+syndrome/4062;MedGen:CN032818;OMIM:135500;Orphanet:3473 2015-06-01 0 0 +1 211093389 G T 211093389 211093389 - Haplotype 203434 RCV000185594 SCV000238503 181521 KCNH1 NM_002238.3:c.974C>A NP_758872.1:p.Ser352Tyr NM_172362.2:c.1055C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 2015 OMIM OMIM Zimmermann-Laband syndrome 1;ZIMMERMANN-LABAND SYNDROME 1 18541964;25915598 germline Gene:353173;Genetic Alliance:Laband+syndrome/4062;MedGen:CN032818;OMIM:135500;Orphanet:3473 2015-06-01 0 0 +1 227170697 C T 227170697 227170697 + Haplotype 217876 RCV000201953 SCV000256872 214530 COQ8A NM_020247.4:c.1042C>T NP_064632.2:p.Arg348Ter NM_020247.4:c.1042C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 2017 Mendelics Analise Genomica Mendelics Analise Genomica Coenzyme Q10 deficiency, primary, 4 18319072;20580948;28125198 germline GeneReviews:NBK410087;Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342;MedGen:C2677589;OMIM:612016;Orphanet:139485 2014-06-16 0 0 1 227173033 G A 227173033 227173033 + Haplotype 217876 RCV000201953 SCV000256872 18675 COQ8A NM_020247.4:c.1651G>A NP_064632.2:p.Glu551Lys NM_020247.4:c.1651G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Oct 11, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Coenzyme Q10 deficiency, primary, 4 18319072;20580948;28125198 germline GeneReviews:NBK410087;Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342;MedGen:C2677589;OMIM:612016;Orphanet:139485 2014-06-16 1 0 1 229568534 G A 229568534 229568534 - Haplotype 18293 RCV000019955 SCV000040253 38498 ACTA1 NM_001100.3:c.223C>T NP_001091.1:p.His75Tyr NM_001100.3:c.223C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 2009 OMIM OMIM Nemaline myopathy 3;NEMALINE MYOPATHY 3 19553116;20301465;22510848 germline GeneReviews:NBK1288;Genetic Alliance:Nemaline+myopathy+3/5125;MedGen:C1834336;OMIM:161800;Office of Rare Diseases:10111 2009-07-01 0 0 1 229568535 C A 229568535 229568535 - Haplotype 18293 RCV000019955 SCV000040253 33332 ACTA1 NM_001100.3:c.222G>T NP_001091.1:p.Glu74Asp NM_001100.3:c.222G>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 2009 OMIM OMIM Nemaline myopathy 3;NEMALINE MYOPATHY 3 19553116;20301465;22510848 germline GeneReviews:NBK1288;Genetic Alliance:Nemaline+myopathy+3/5125;MedGen:C1834336;OMIM:161800;Office of Rare Diseases:10111 2009-07-01 0 0 -2 47273468 A G 47273468 47273468 + Haplotype 190388 RCV000170526 SCV000223091 188215 TTC7A NM_020458.3:c.1817A>G NP_065191.2:p.Lys606Arg NM_001288953.1:c.1715A>G:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Oct 25, 2016 OMIM OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 germline MedGen:C0220744;OMIM:243150;OMIM:609332.0001;OMIM:609332.0002;OMIM:609332.0003;OMIM:609332.0004;OMIM:609332.0005;OMIM:609332.0006;OMIM:609332.0007;OMIM:609332.0008;OMIM:609332.0009;OMIM:609332.0010;OMIM:609332.0011;OMIM:609332.0012;OMIM:609332.0013;OMIM:609332.0014;OMIM:609332.0015;Office of Rare Diseases:3013;Orphanet:2300;Orphanet:436252;SNOMED CT:95472001 2013-09-01 1 0 -2 47277182 T C 47277182 47277182 + Haplotype 190388 RCV000170526 SCV000223091 188216 TTC7A NM_020458.3:c.2014T>C NP_065191.2:p.Ser672Pro NM_001288953.1:c.1912T>C:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 25, 2016 OMIM OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 germline MedGen:C0220744;OMIM:243150;OMIM:609332.0001;OMIM:609332.0002;OMIM:609332.0003;OMIM:609332.0004;OMIM:609332.0005;OMIM:609332.0006;OMIM:609332.0007;OMIM:609332.0008;OMIM:609332.0009;OMIM:609332.0010;OMIM:609332.0011;OMIM:609332.0012;OMIM:609332.0013;OMIM:609332.0014;OMIM:609332.0015;Office of Rare Diseases:3013;Orphanet:2300;Orphanet:436252;SNOMED CT:95472001 2013-09-01 0 0 +1 231557255 C G 231557255 231557255 - Haplotype 156155 RCV000144173 SCV000189250 165954 EGLN1 NM_022051.2:c.380G>C NP_071334.1:p.Cys127Ser NM_022051.2:c.380G>C:missense variant Benign, Affects affects 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Hemoglobin, high altitude adaptation;HEMOGLOBIN, HIGH ALTITUDE ADAPTATION 25129147 germline MedGen:C1836778;OMIM:609070 2014-09-01 0 0 +1 231557623 G C 231557623 231557623 - Haplotype 156155 RCV000144173 SCV000189250 227498 EGLN1 NM_022051.2:c.12C>G NP_071334.1:p.Asp4Glu NM_022051.2:c.12C>G:missense variant Benign/Likely benign affects 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Apr 12, 2017 OMIM OMIM Hemoglobin, high altitude adaptation;HEMOGLOBIN, HIGH ALTITUDE ADAPTATION 25129147 germline MedGen:C1836778;OMIM:609070 2014-09-01 2 0 +2 45169449 G A 45169449 45169449 + Haplotype 441532 RCV000006470 SCV000026653 21137 SIX3 NM_005413.3:c.206G>A NP_005404.1:p.Gly69Asp NM_005413.3:c.206G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 01, 2006 OMIM OMIM Holoprosencephaly 2;HOLOPROSENCEPHALY 2 17001667;20301702 germline GeneReviews:NBK1530;Genetic Alliance:Holoprosencephaly+2/8559;MedGen:C1834877;OMIM:157170;Orphanet:2162 2006-12-01 0 0 +2 47273468 A G 47273468 47273468 + Haplotype 190388 RCV000170526 SCV000223091 188215 TTC7A NM_020458.3:c.1817A>G NP_065191.2:p.Lys606Arg NM_001288953.1:c.1715A>G:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 24, 2017 OMIM OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 germline MedGen:C0220744;OMIM:243150;OMIM:609332.0001;OMIM:609332.0002;OMIM:609332.0003;OMIM:609332.0004;OMIM:609332.0005;OMIM:609332.0006;OMIM:609332.0007;OMIM:609332.0008;OMIM:609332.0009;OMIM:609332.0010;OMIM:609332.0011;OMIM:609332.0012;OMIM:609332.0013;OMIM:609332.0014;OMIM:609332.0015;Office of Rare Diseases:3013;Orphanet:2300;Orphanet:436252;SNOMED CT:95472001 2013-09-01 0 1 +2 47277182 T C 47277182 47277182 + Haplotype 190388 RCV000170526 SCV000223091 188216 TTC7A NM_020458.3:c.2014T>C NP_065191.2:p.Ser672Pro NM_001288953.1:c.1912T>C:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 24, 2017 OMIM OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 germline MedGen:C0220744;OMIM:243150;OMIM:609332.0001;OMIM:609332.0002;OMIM:609332.0003;OMIM:609332.0004;OMIM:609332.0005;OMIM:609332.0006;OMIM:609332.0007;OMIM:609332.0008;OMIM:609332.0009;OMIM:609332.0010;OMIM:609332.0011;OMIM:609332.0012;OMIM:609332.0013;OMIM:609332.0014;OMIM:609332.0015;Office of Rare Diseases:3013;Orphanet:2300;Orphanet:436252;SNOMED CT:95472001 2013-09-01 0 1 2 74692046 C T 74692046 74692046 - Haplotype 375688 RCV000114957 SCV000148867 214379 MOGS NM_006302.2:c.329G>A NP_006293.2:p.Arg110His NM_006302.2:c.329G>A:missense variant Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 2015 OMIM OMIM Congenital disorder of glycosylation type 2B;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb 20301507;24716661 germline Genetic Alliance:CONGENITAL+DISORDER+OF+GLYCOSYLATION%2C+TYPE+IIb/8057;MedGen:C1853736;OMIM:606056;Office of Rare Diseases:10767;Orphanet:79330 2014-04-24 0 0 2 74692310 G T 74692310 74692310 - Haplotype 375688 RCV000114957 SCV000148867 132608 MOGS NM_006302.2:c.65C>A NP_006293.2:p.Ala22Glu NM_001146158.1:c.-59+131C>A:intron variant;NM_006302.2:c.65C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 24, 2014 OMIM OMIM Congenital disorder of glycosylation type 2B;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb 20301507;24716661 germline Genetic Alliance:CONGENITAL+DISORDER+OF+GLYCOSYLATION%2C+TYPE+IIb/8057;MedGen:C1853736;OMIM:606056;Office of Rare Diseases:10767;Orphanet:79330 2014-04-24 0 0 2 86444224 T C 86444224 86444224 - Distinct chromosomes 157528 RCV000144873 SCV000172145 167389 REEP1 NM_001164730.1:c.626A>G NP_001158202.1:p.Ter209Trp NM_001164730.1:c.626A>G:stop lost;NM_001164732.1:c.370A>G:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 2013 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type|spasticity;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 0 0 2 128412067 G A 128412067 128412067 - Haplotype 222901 RCV000208555 SCV000264322 224616 LIMS2 NM_001161404.1:c.275C>T NP_001154876.1:p.Pro92Leu NM_001161404.1:c.275C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 12, 2016 OMIM OMIM Muscular dystrophy, limb-girdle, type 2W;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W (1 family) 25589244 germline MedGen:C4225192;OMIM:616827 2016-08-12 0 0 2 128412081 G C 128412081 128412081 - Haplotype 222901 RCV000208555 SCV000264322 224615 LIMS2 NM_001136037.2:c.342C>G NP_001154876.1:p.Asn87Lys NM_001161404.1:c.261C>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 12, 2016 OMIM OMIM Muscular dystrophy, limb-girdle, type 2W;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W (1 family) 25589244 germline MedGen:C4225192;OMIM:616827 2016-08-12 0 0 +2 167129256 C A 167129256 167129256 - Haplotype 441531 RCV000023304 SCV000044595 39316 SCN9A NM_002977.3:c.2971G>T NP_002968.1:p.Val991Leu NM_002977.3:c.2971G>T:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Aug 22, 2017 OMIM OMIM Small fiber neuropathy;NEUROPATHY, SMALL FIBER 21698661 germline GeneTests:320010;Genetics Home Reference:small-fiber-neuropathy;MedGen:C3276709;OMIM:133020 2012-01-01 1 1 +2 167133540 T G 167133540 167133540 - Haplotype 441531 RCV000023304 SCV000044595 39315 SCN9A NM_002977.3:c.2794A>C NP_002968.1:p.Met932Leu NM_002977.3:c.2794A>C:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Aug 22, 2017 OMIM OMIM Small fiber neuropathy;NEUROPATHY, SMALL FIBER 21698661 germline GeneTests:320010;Genetics Home Reference:small-fiber-neuropathy;MedGen:C3276709;OMIM:133020 2012-01-01 2 0 2 179395322 AC A 179395323 179395323 - Haplotype 178839 RCV000155611 SCV000205319 172806 TTN NM_133378.4:c.98315delG NP_001254479.2:p.Gly35340Valfs NM_001267550.2:c.106019delG:frameshift variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Sep 27, 2013 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Autosomal recessive centronuclear myopathy 22617344;23975875;24033266 germline Genetic Alliance:Autosomal+recessive+centronuclear+myopathy/7787;Genetics Home Reference:centronuclear-myopathy;MedGen:C0410204;OMIM:255200;Orphanet:169186;Orphanet:ORPHA169186;SNOMED CT:240081004 2013-09-27 0 0 2 179434462 ATGTT A 179434463 179434466 - Haplotype 178839 RCV000155611 SCV000205319 172708 TTN NM_001267550.2:c.76393_76396delAACA NP_001254479.2:p.Asn25465Terfs NM_001267550.2:c.76393_76396delAACA:frameshift variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Sep 27, 2013 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Autosomal recessive centronuclear myopathy 22617344;23975875;24033266 germline Genetic Alliance:Autosomal+recessive+centronuclear+myopathy/7787;Genetics Home Reference:centronuclear-myopathy;MedGen:C0410204;OMIM:255200;Orphanet:169186;Orphanet:ORPHA169186;SNOMED CT:240081004 2013-09-27 0 0 -2 179472292 T A 179472292 179472292 - Haplotype 179465 RCV000156254 SCV000205970 56237 TTN NM_001267550.2:c.53123A>T NP_597676.3:p.Lys8768Ile NM_001267550.2:c.53123A>T:missense variant Benign/Likely benign uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Jan 25, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-04 0 0 -2 179472293 T C 179472293 179472293 - Haplotype 179465 RCV000156254 SCV000205970 173874 TTN NM_001267550.2:c.53122A>G NP_001254479.2:p.Lys17708Glu NM_001267550.2:c.53122A>G:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Aug 31, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-04 0 1 -2 189861915 C T 189861915 189861915 + Haplotype 101229 RCV000087466 SCV000120353 106974 COL3A1 NM_000090.3:c.1786C>T NP_000081.1:p.Arg596Ter NM_000090.3:c.1786C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 19, 2017 Collagen Diagnostic Laboratory Collagen Diagnostic Laboratory Ehlers-Danlos syndrome, type 4;Ehlers-Danlos syndrome, type 4 20301667;23788249;24882528;25173340;25355838;25356965;27854360 germline GeneReviews:NBK1494;Genetic Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491;MedGen:C0268338;OMIM:130050;Orphanet:286;SNOMED CT:17025000 0000-00-00 0 0 +2 179472292 T A 179472292 179472292 - Haplotype 179465 RCV000156254 SCV000205970 56237 TTN NM_001267550.2:c.53123A>T NP_597676.3:p.Lys8768Ile NM_001267550.2:c.53123A>T:missense variant Benign/Likely benign uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Aug 08, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-04 0 0 +2 179472293 T C 179472293 179472293 - Haplotype 179465 RCV000156254 SCV000205970 173874 TTN NM_001267550.2:c.53122A>G NP_001254479.2:p.Lys17708Glu NM_001267550.2:c.53122A>G:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Aug 31, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-04 1 1 +2 189861915 C T 189861915 189861915 + Haplotype 101229 RCV000087466 SCV000120353 106974 COL3A1 NM_000090.3:c.1786C>T NP_000081.1:p.Arg596Ter NM_000090.3:c.1786C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 19, 2017 Collagen Diagnostic Laboratory Collagen Diagnostic Laboratory Ehlers-Danlos syndrome, type 4;Ehlers-Danlos syndrome, type 4 20301667;23788249;24882528;25173340;25355838;25356965;27854360 germline GeneReviews:NBK1494;Genetic Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491;MedGen:C0268338;OMIM:130050;Orphanet:286;SNOMED CT:17025000 0000-00-00 1 0 2 189874931 G A 189874931 189874931 + Haplotype 101229 RCV000087466 SCV000120353 106975 COL3A1 NM_000090.3:c.3851G>A NP_000081.1:p.Gly1284Glu NM_000090.3:c.3851G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided - Collagen Diagnostic Laboratory Collagen Diagnostic Laboratory Ehlers-Danlos syndrome, type 4;Ehlers-Danlos syndrome, type 4 20301667;23788249;24882528;25173340;25355838;25356965;27854360 germline GeneReviews:NBK1494;Genetic Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491;MedGen:C0268338;OMIM:130050;Orphanet:286;SNOMED CT:17025000 0000-00-00 0 0 -2 201436518 CAG C 201436522 201436523 Haplotype 375673 RCV000417144 SCV000494729 362513 CLDN14 NM_152524.5:c.1453_1454delGA NP_689737.4:p.Glu485Lysfs NM_152524.5:c.1453_1454delGA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 30, 2016 Laboratory of Molecular Genetics,National Institutes of Health Laboratory of Molecular Genetics,National Institutes of Health Perrault Syndrome;Deafness;Primary ovarian insufficiency;Perrault Syndrome germline Illumina Clinical Services Laboratory,Illumina:37522;MedGen:CN239459 2016-08-30 0 0 +2 201436518 CAG C 201436522 201436523 Haplotype 375673 RCV000417144 SCV000494729 362513 CLDN14 NM_152524.5:c.1453_1454delGA NP_689737.4:p.Glu485Lysfs NM_152524.5:c.1453_1454delGA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 30, 2016 Laboratory of Molecular Genetics,National Institutes of Health Laboratory of Molecular Genetics,National Institutes of Health Perrault Syndrome;Deafness;Primary ovarian insufficiency;Perrault Syndrome germline Illumina Clinical Services Laboratory,Illumina:37522;MedGen:CN239459 2016-08-30 0 0 2 202574623 G A 202574623 202574623 - Haplotype 217879 RCV000201952 SCV000256875 214531 ALS2 NM_020919.3:c.4261C>T NP_065970.2:p.Arg1421Ter NM_020919.3:c.4261C>T:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 14, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Infantile-onset ascending hereditary spastic paralysis 12919135;18394004;20301421 loss of function germline GeneReviews:NBK1243;Genetic Alliance:Infantile-onset+ascending+hereditary+spastic+paralysis/3819;Genetic Testing Registry (GTR):GTR000249543;Genetic Testing Registry (GTR):GTR000514976;Genetic Testing Registry (GTR):GTR000528540;MedGen:C1846588;OMIM:607225;Office of Rare Diseases:4914;Orphanet:293168 2014-07-14 0 0 2 202588048 C G 202588048 202588048 - CompoundHeterozygote 42162 RCV000034989 SCV000058622 205072 ALS2 NM_020919.3:c.3624+5G>C NM_020919.3:c.3624+5G>C:intron variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 10, 2011 GeneReviews GeneReviews Amyotrophic lateral sclerosis type 2;ALS2-Related Disorders 20018642;20301421;20301623 not provided GeneReviews:NBK1243;Genetic Alliance:Amyotrophic+Lateral+Sclerosis+Type+2/404;MedGen:C1859807;OMIM:205100;OMIM:606352.0001;OMIM:606352.0011;OMIM:606352.0016;OMIM:606352.0017;Office of Rare Diseases:9470;Orphanet:300605 2011-02-10 0 0 2 202588111 AC A 202588112 202588112 - CompoundHeterozygote 42162 RCV000034989 SCV000058622 51328 ALS2 NM_020919.3:c.3565delG NP_065970.2:p.Val1189Trpfs NM_020919.3:c.3565delG:frameshift variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 10, 2011 GeneReviews GeneReviews Amyotrophic lateral sclerosis type 2;ALS2-Related Disorders 20018642;20301421;20301623 not provided GeneReviews:NBK1243;Genetic Alliance:Amyotrophic+Lateral+Sclerosis+Type+2/404;MedGen:C1859807;OMIM:205100;OMIM:606352.0001;OMIM:606352.0011;OMIM:606352.0016;OMIM:606352.0017;Office of Rare Diseases:9470;Orphanet:300605 2011-02-10 0 0 @@ -86,60 +94,70 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 2 202611376 G T 202611376 202611376 - Haplotype 217879 RCV000201952 SCV000256875 214532 ALS2 NM_020919.3:c.1911C>A NP_065970.2:p.Tyr637Ter NM_020919.3:c.1911C>A:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 14, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Infantile-onset ascending hereditary spastic paralysis 12919135;18394004;20301421 loss of function germline GeneReviews:NBK1243;Genetic Alliance:Infantile-onset+ascending+hereditary+spastic+paralysis/3819;Genetic Testing Registry (GTR):GTR000249543;Genetic Testing Registry (GTR):GTR000514976;Genetic Testing Registry (GTR):GTR000528540;MedGen:C1846588;OMIM:607225;Office of Rare Diseases:4914;Orphanet:293168 2014-07-14 0 0 2 202611461 T TCACTG 202611462 202611466 - CompoundHeterozygote 42138 RCV000034965 SCV000058589 51304 ALS2 NM_020919.3:c.1821_1825dupCAGTG NP_065970.2:p.Glu609Alafs NM_020919.3:c.1821_1825dupCAGTG:frameshift variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 10, 2011 GeneReviews GeneReviews Infantile-onset ascending hereditary spastic paralysis;ALS2-Related Disorders 18394004;20301421 loss of function not provided GeneReviews:NBK1243;Genetic Alliance:Infantile-onset+ascending+hereditary+spastic+paralysis/3819;Genetic Testing Registry (GTR):GTR000249543;Genetic Testing Registry (GTR):GTR000514976;Genetic Testing Registry (GTR):GTR000528540;MedGen:C1846588;OMIM:607225;Office of Rare Diseases:4914;Orphanet:293168 2011-02-10 0 0 2 228137806 G A 228137806 228137806 + Haplotype 397582 RCV000449541 SCV000537787 384474 COL4A3 NM_000091.4:c.1900G>A NP_000082.2:p.Gly634Arg NM_000091.4:c.1900G>A:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided - Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Alport syndrome, autosomal recessive 20301386;22166944 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome+Recessive+Type/337;MedGen:C1567744;OMIM:203780;Orphanet:63;Orphanet:88919 0000-00-00 0 0 -2 228137833 G A 228137833 228137833 + Haplotype 397582 RCV000449541 SCV000537787 285718 COL4A3 NM_000091.4:c.1927G>A NP_000082.2:p.Gly643Ser NM_000091.4:c.1927G>A:missense variant Uncertain significance likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Alport syndrome, autosomal recessive 20301386;22166944 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome+Recessive+Type/337;MedGen:C1567744;OMIM:203780;Orphanet:63;Orphanet:88919 0000-00-00 0 0 -2 233348866 G A 233348866 233348866 - Haplotype 235817 RCV000224367 SCV000281670 48091 ECEL1 NM_004826.3:c.1252C>T NP_004817.2:p.Arg418Cys NM_004826.3:c.1252C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 -2 233348866 G T 233348866 233348866 - Haplotype 235818 RCV000224716 SCV000281671 48089 ECEL1 NM_004826.3:c.1252C>A NP_004817.2:p.Arg418Ser NM_004826.3:c.1252C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 -2 233349179 T A 233349179 233349179 - Haplotype 235818 RCV000224716 SCV000281671 48090 ECEL1 NM_004826.3:c.1184+3A>T NM_004826.3:c.1184+3A>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 +2 228137833 G A 228137833 228137833 + Haplotype 397582 RCV000449541 SCV000537787 285718 COL4A3 NM_000091.4:c.1927G>A NP_000082.2:p.Gly643Ser NM_000091.4:c.1927G>A:missense variant Uncertain significance likely pathogenic 0 1 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 14, 2016 Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Alport syndrome, autosomal recessive 20301386;22166944 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome+Recessive+Type/337;MedGen:C1567744;OMIM:203780;Orphanet:63;Orphanet:88919 0000-00-00 1 0 +2 233348866 G A 233348866 233348866 - Haplotype 235817 RCV000224367 SCV000281670 48091 ECEL1 NM_004826.3:c.1252C>T NP_004817.2:p.Arg418Cys NM_004826.3:c.1252C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 +2 233348866 G T 233348866 233348866 - Haplotype 235818 RCV000224716 SCV000281671 48089 ECEL1 NM_004826.3:c.1252C>A NP_004817.2:p.Arg418Ser NM_004826.3:c.1252C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 +2 233349179 T A 233349179 233349179 - Haplotype 235818 RCV000224716 SCV000281671 48090 ECEL1 NM_004826.3:c.1184+3A>T NM_004826.3:c.1184+3A>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 2 233349788 T C 233349788 233349788 - Haplotype 235820 RCV000224404 SCV000281673 237475 ECEL1 NM_004826.3:c.869A>G NP_004817.2:p.Tyr290Cys NM_004826.3:c.869A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jan 08, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 2 233349963 CCCAT AGC 233349963 233349967 - Haplotype 235820 RCV000224404 SCV000281673 237476 ECEL1 NM_004826.3:c.797_801delATGGGinsGCT NP_004817.2:p.Asp266Glyfs NM_004826.3:c.797_801delATGGGinsGCT:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jan 08, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 2 233350647 G GT 233350648 233350648 - Haplotype 235821 RCV000224209 SCV000281675 48087 ECEL1 NM_004826.3:c.716dupA NP_004817.2:p.Tyr239Terfs NM_004826.3:c.716dupA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 1 0 -2 233350774 C T 233350774 233350774 - Haplotype 235817 RCV000224367 SCV000281670 48092 ECEL1 NM_004826.3:c.590G>A NP_004817.2:p.Gly197Asp NM_004826.3:c.590G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 -2 233351008 CTGGCGTCCAGGT C 233351009 233351020 - Haplotype 235821 RCV000224209 SCV000281675 48088 ECEL1 NM_004826.3:c.344_355delACCTGGACGCCA NP_004817.2:p.Asn115_Ala118del NM_004826.3:c.344_355delACCTGGACGCCA:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 +2 233350774 C T 233350774 233350774 - Haplotype 235817 RCV000224367 SCV000281670 48092 ECEL1 NM_004826.3:c.590G>A NP_004817.2:p.Gly197Asp NM_004826.3:c.590G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 +2 233351008 CTGGCGTCCAGGT C 233351009 233351020 - Haplotype 235821 RCV000224209 SCV000281675 48088 ECEL1 NM_004826.3:c.344_355delACCTGGACGCCA NP_004817.2:p.Asn115_Ala118del NM_004826.3:c.344_355delACCTGGACGCCA:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 2 241808719 T TTCCTGGTTG 241808720 241808728 + Haplotype 204181 RCV000186388 SCV000239738 200465 AGXT NM_000030.2:c.299_307dupTCCTGGTTG NP_000021.1:p.Val102_Gly103insValLeuVal NM_000030.2:c.299_307dupTCCTGGTTG:inframe_variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 27, 2014 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 17460142;20301460;22547750 loss of function germline GeneReviews:NBK1283;Genetic Alliance:Primary+hyperoxaluria+type+1/5947;Genetic Testing Registry (GTR):GTR000118454;Genetic Testing Registry (GTR):GTR000507681;Genetic Testing Registry (GTR):GTR000514623;Genetic Testing Registry (GTR):GTR000515735;Genetic Testing Registry (GTR):GTR000515765;Genetic Testing Registry (GTR):GTR000521390;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 2014-11-27 0 0 2 241808729 G A 241808729 241808729 + Haplotype 204181 RCV000186388 SCV000239738 200466 AGXT NM_000030.2:c.308G>A NP_000021.1:p.Gly103Glu NM_000030.2:c.308G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 27, 2014 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 17460142;20301460;22547750 loss of function germline GeneReviews:NBK1283;Genetic Alliance:Primary+hyperoxaluria+type+1/5947;Genetic Testing Registry (GTR):GTR000118454;Genetic Testing Registry (GTR):GTR000507681;Genetic Testing Registry (GTR):GTR000514623;Genetic Testing Registry (GTR):GTR000515735;Genetic Testing Registry (GTR):GTR000515765;Genetic Testing Registry (GTR):GTR000521390;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 2014-11-27 0 0 2 241815403 G GA 241815404 241815405 + Haplotype 204202 RCV000186409 SCV000239759 200559 AGXT NM_000030.2:c.829_830insA NP_000021.1:p.Ala277Aspfs NM_000030.2:c.829_830insA:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 27, 2014 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 20301460;22547750 loss of function germline GeneReviews:NBK1283;Genetic Alliance:Primary+hyperoxaluria+type+1/5947;Genetic Testing Registry (GTR):GTR000118454;Genetic Testing Registry (GTR):GTR000507681;Genetic Testing Registry (GTR):GTR000514623;Genetic Testing Registry (GTR):GTR000515735;Genetic Testing Registry (GTR):GTR000515765;Genetic Testing Registry (GTR):GTR000521390;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 2014-11-27 0 0 2 241815405 C A 241815405 241815405 + Haplotype 204202 RCV000186409 SCV000239759 200560 AGXT NM_000030.2:c.830C>A NP_000021.1:p.Ala277Asp NM_000030.2:c.830C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 27, 2014 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 20301460;22547750 loss of function germline GeneReviews:NBK1283;Genetic Alliance:Primary+hyperoxaluria+type+1/5947;Genetic Testing Registry (GTR):GTR000118454;Genetic Testing Registry (GTR):GTR000507681;Genetic Testing Registry (GTR):GTR000514623;Genetic Testing Registry (GTR):GTR000515735;Genetic Testing Registry (GTR):GTR000515765;Genetic Testing Registry (GTR):GTR000521390;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 2014-11-27 0 0 3 15676984 GCGGCTG TCC 15676984 15676990 + Haplotype 38562 RCV000021886 SCV000042553 16934 BTD NM_000060.4:c.98_104delGCGGCTGinsTCC NP_000051.1:p.Cys33Phefs NM_000060.4:c.98_104delGCGGCTGinsTCC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Apr 19, 2017 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 14707518;15776412;20301497;22378278;22475884;9396567 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 2 0 -3 15677019 G A 15677019 15677019 + Haplotype 24975;38563 RCV000021890;RCV000021889 SCV000042558;SCV000042557 36313 BTD NM_000060.4:c.133G>A NP_000051.1:p.Gly45Arg NM_000060.4:c.133G>A:missense variant Conflicting interpretations of pathogenicity pathogenic 2 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jul 08, 2016 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency 10400129;15060693;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 1 1 +3 15677019 G A 15677019 15677019 + Haplotype 24975;38563 RCV000021890;RCV000021889 SCV000042558;SCV000042557 36313 BTD NM_000060.4:c.133G>A NP_000051.1:p.Gly45Arg NM_000060.4:c.133G>A:missense variant Conflicting interpretations of pathogenicity pathogenic 2 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Nov 03, 2017 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency 10400129;15060693;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 1 1 3 15677045 C A 15677045 15677045 + Haplotype 24977 RCV000021892 SCV000042560 36316 BTD NM_000060.4:c.159C>A NP_000051.1:p.His53Gln NM_000060.4:c.159C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 3 15677046 G T 15677046 15677046 + Haplotype 24977 RCV000021892 SCV000042560 36317 BTD NM_000060.4:c.160G>T NP_000051.1:p.Glu54Ter NM_000060.4:c.160G>T:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 -3 15677098 T C 15677098 15677098 + Haplotype 38562;38564 RCV000021886;RCV000021901 SCV000042553;SCV000042569 47043 BTD NM_000060.4:c.212T>C NP_000051.1:p.Leu71Pro NM_000060.4:c.212T>C:missense variant Conflicting interpretations of pathogenicity pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 09, 2016 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency 14707518;15776412;20301497;22378278;22475884;9396567;15060693 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 1 +3 15677098 T C 15677098 15677098 + Haplotype 38562;38564 RCV000021886;RCV000021901 SCV000042553;SCV000042569 47043 BTD NM_000060.4:c.212T>C NP_000051.1:p.Leu71Pro NM_000060.4:c.212T>C:missense variant Conflicting interpretations of pathogenicity pathogenic 2 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Nov 09, 2016 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency 14707518;15776412;20301497;22378278;22475884;9396567;15060693 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 1 1 3 15677121 C T 15677121 15677121 + Haplotype 38565;38566 RCV000021903;RCV000032009 SCV000042572;SCV000042573 16944 BTD NM_000060.4:c.235C>T NP_000051.1:p.Arg79Cys NM_000060.4:c.235C>T:missense variant Pathogenic pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided Sep 28, 2016 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency 10801053;15776412;16435182;20301497;22378278;22475884;10400129;9396567 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 1 0 -3 15677122 G A 15677122 15677122 + Haplotype 38564 RCV000021901 SCV000042569 46851 BTD NM_000060.4:c.236G>A NP_000051.1:p.Arg79His NM_000060.4:c.236G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 14707518;15060693;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 +3 15677122 G A 15677122 15677122 + Haplotype 38564 RCV000021901 SCV000042569 46851 BTD NM_000060.4:c.236G>A NP_000051.1:p.Arg79His NM_000060.4:c.236G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 14707518;15060693;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 3 15677169 C T 15677169 15677169 + Haplotype 24994 RCV000021912 SCV000042581 36332 BTD NM_000060.4:c.283C>T NP_000051.1:p.Gln95Ter NM_000060.4:c.283C>T:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 3 15685833 G A 15685833 15685833 + Haplotype 38566;38568 RCV000032009;RCV000021933 SCV000042573;SCV000042602 46845 BTD NM_000060.4:c.470G>A NP_000051.1:p.Arg157His NM_000060.4:c.470G>A:missense variant Pathogenic pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 25, 2016 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency 10400129;10801053;15776412;16435182;20301497;22378278;22475884;9396567 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 -3 15685874 G A 15685874 15685874 + Haplotype 25016 RCV000021936 SCV000022135;SCV000042605 36353 BTD NM_000060.4:c.511G>A NP_000051.1:p.Ala171Thr NM_000060.4:c.511G>A:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;no assertion criteria provided May 18, 2017 OMIM;ARUP Institute,ARUP Laboratories OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY;Biotinidase deficiency 10400129;15776412;20301497;21228398;22378278;22475884;7509806;9375914;9654207 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2011-01-12;2012-12-04 0 0 -3 15686004 A G 15686004 15686004 + Haplotype 25030 RCV000021952 SCV000042621 36367 BTD NM_000060.4:c.641A>G NP_000051.1:p.Asn214Ser NM_000060.4:c.641A>G:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Mar 18, 2016 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 1 1 -3 15686157 A T 15686157 15686157 + Haplotype 25042 RCV000021964 SCV000042634 36378 BTD NM_000060.4:c.794A>T NP_000051.1:p.His265Leu NM_000060.4:c.794A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 12359137;20083419;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 +3 15685874 G A 15685874 15685874 + Haplotype 25016 RCV000021936 SCV000022135;SCV000042605 36353 BTD NM_000060.4:c.511G>A NP_000051.1:p.Ala171Thr NM_000060.4:c.511G>A:missense variant Conflicting interpretations of pathogenicity pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;no assertion criteria provided May 18, 2017 OMIM;ARUP Institute,ARUP Laboratories OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY;Biotinidase deficiency 10400129;15776412;20301497;21228398;22378278;22475884;7509806;9375914;9654207 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2011-01-12;2012-12-04 0 1 +3 15686004 A G 15686004 15686004 + Haplotype 25030 RCV000021952 SCV000042621 36367 BTD NM_000060.4:c.641A>G NP_000051.1:p.Asn214Ser NM_000060.4:c.641A>G:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 01, 2017 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 1 +3 15686157 A T 15686157 15686157 + Haplotype 25042 RCV000021964 SCV000042634 36378 BTD NM_000060.4:c.794A>T NP_000051.1:p.His265Leu NM_000060.4:c.794A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 12359137;20083419;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 3 15686228 G C 15686228 15686228 + Haplotype 38563 RCV000021889 SCV000042557 46848 BTD NM_000060.4:c.865G>C NP_000051.1:p.Ala289Pro NM_000060.4:c.865G>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129;15060693;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 -3 15686296 T G 15686296 15686296 + Haplotype 25042 RCV000021964 SCV000042634 36379 BTD NM_000060.4:c.933T>G NP_000051.1:p.Ser311Arg NM_000060.4:c.933T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 12359137;20083419;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 -3 15686534 C T 15686534 15686534 + Haplotype 38571 RCV000021985 SCV000042655 46849 BTD NM_001281724.2:c.1177C>T NP_001268653.1:p.Pro393Ser NM_000060.4:c.1171C>T:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 22, 2017 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 11668630;15776412;20301497;22378278;22475884;9396567 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 -3 15686570 T G 15686570 15686570 + Haplotype 1904 RCV000001981 SCV000022139;SCV000042659 16943 BTD NM_000060.4:c.1207T>G NP_000051.1:p.Phe403Val NM_000060.4:c.1207T>G:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided Apr 29, 2016 OMIM;ARUP Institute,ARUP Laboratories OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY;Biotinidase deficiency 10400129;15776412;20301497;22378278;22475884 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 1999-07-01;2012-12-04 1 0 +3 15686296 T G 15686296 15686296 + Haplotype 25042 RCV000021964 SCV000042634 36379 BTD NM_000060.4:c.933T>G NP_000051.1:p.Ser311Arg NM_000060.4:c.933T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 12359137;20083419;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 +3 15686534 C T 15686534 15686534 + Haplotype 38571 RCV000021985 SCV000042655 46849 BTD NM_001281724.2:c.1177C>T NP_001268653.1:p.Pro393Ser NM_000060.4:c.1171C>T:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Apr 18, 2017 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 11668630;15776412;20301497;22378278;22475884;9396567 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 2 0 +3 15686570 T G 15686570 15686570 + Haplotype 1904 RCV000001981 SCV000022139;SCV000042659 16943 BTD NM_000060.4:c.1207T>G NP_000051.1:p.Phe403Val NM_000060.4:c.1207T>G:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;no assertion criteria provided Apr 29, 2016 OMIM;ARUP Institute,ARUP Laboratories OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY;Biotinidase deficiency 10400129;15776412;20301497;22378278;22475884 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 1999-07-01;2012-12-04 0 0 3 15686634 G C 15686634 15686634 + Haplotype 24975 RCV000021890 SCV000042558 36314 BTD NM_000060.4:c.1271G>C NP_000051.1:p.Cys424Ser NM_000060.4:c.1271G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129;15060693;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 -3 15686693 G C 15686693 15686693 + Haplotype 1904;24994;25016;25030;38568 RCV000001981;RCV000021912;RCV000021936;RCV000021952;RCV000021933 SCV000022139;SCV000042659;SCV000042581;SCV000022135;SCV000042605;SCV000042621;SCV000042602 16939 BTD NM_001281724.2:c.1336G>C NP_001268653.1:p.Asp446His NM_000060.4:c.1330G>C:missense variant Pathogenic/Likely pathogenic pathogenic 7 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 13, 2017 OMIM;ARUP Institute,ARUP Laboratories OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY 10400129;15776412;20301497;22378278;22475884;21228398;7509806;9375914;9654207;16435182;9396567 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 1999-07-01;2012-12-04;2011-01-12 2 0 -3 15686697 G T 15686697 15686697 + Haplotype 38571 RCV000021985 SCV000042655 36396 BTD NM_000060.4:c.1334G>T NP_000051.1:p.Gly445Val NM_000060.4:c.1334G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 11668630;15776412;20301497;22378278;22475884;9396567 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 +3 15686693 G C 15686693 15686693 + Haplotype 1904;24994;25016;25030;38568 RCV000001981;RCV000021912;RCV000021936;RCV000021952;RCV000021933 SCV000022139;SCV000042659;SCV000042581;SCV000022135;SCV000042605;SCV000042621;SCV000042602 16939 BTD NM_001281724.2:c.1336G>C NP_001268653.1:p.Asp446His NM_000060.4:c.1330G>C:missense variant Pathogenic/Likely pathogenic pathogenic 7 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 18, 2017 OMIM;ARUP Institute,ARUP Laboratories OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY 10400129;15776412;20301497;22378278;22475884;21228398;7509806;9375914;9654207;16435182;9396567 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 1999-07-01;2012-12-04;2011-01-12 2 0 +3 15686697 G T 15686697 15686697 + Haplotype 38571 RCV000021985 SCV000042655 36396 BTD NM_000060.4:c.1334G>T NP_000051.1:p.Gly445Val NM_000060.4:c.1334G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 10, 2017 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 11668630;15776412;20301497;22378278;22475884;9396567 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 3 15686724 A C 15686724 15686724 + Haplotype 38565 RCV000021903 SCV000042572 36326 BTD NM_000060.4:c.1361A>C NP_000051.1:p.Tyr454Ser NM_000060.4:c.1361A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10801053;15776412;16435182;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 -3 33060002 G A 33060002 33060002 - Haplotype 208495 RCV000190508 SCV000245394 205010 GLB1 NM_000404.3:c.1285C>T NP_000395.2:p.Pro429Ser NM_000404.3:c.1285C>T:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided May 13, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Mucopolysaccharidosis, MPS-IV-B 24156116 germline GeneReviews:NBK164500;Genetic Alliance:Morquio+syndrome+B/4877;MedGen:C0086652;OMIM:253010;Orphanet:582;SNOMED CT:238044004 2016-05-13 0 0 +3 33060002 G A 33060002 33060002 - Haplotype 208495 RCV000190508 SCV000245394 205010 GLB1 NM_000404.3:c.1285C>T NP_000395.2:p.Pro429Ser NM_000404.3:c.1285C>T:missense variant Likely benign uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Jul 18, 2017 Mendelics Analise Genomica Mendelics Analise Genomica Mucopolysaccharidosis, MPS-IV-B 24156116 germline GeneReviews:NBK164500;Genetic Alliance:Morquio+syndrome+B/4877;MedGen:C0086652;OMIM:253010;Orphanet:582;SNOMED CT:238044004 2016-05-13 0 0 3 33065789 G T 33065789 33065789 - Haplotype 208495 RCV000190508 SCV000245394 205011 GLB1 NM_000404.3:c.1097C>A NP_000395.2:p.Pro366His NM_000404.3:c.1097C>A:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided May 13, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Mucopolysaccharidosis, MPS-IV-B 24156116 germline GeneReviews:NBK164500;Genetic Alliance:Morquio+syndrome+B/4877;MedGen:C0086652;OMIM:253010;Orphanet:582;SNOMED CT:238044004 2016-05-13 0 0 -3 38593004 G A 38593004 38593004 - Haplotype 440848 RCV000009965 SCV000030186 38446 SCN5A NM_198056.2:c.4859C>T NP_932173.1:p.Thr1620Met NM_000335.4:c.4856C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Apr 10, 2014 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10618304;19251209;20129283;20301690;21321465;21810866;23788249;25356965;27854360;9521325 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2000-01-04 0 0 +3 38593004 G A 38593004 38593004 - Haplotype 440848 RCV000009965 SCV000030186 38446 SCN5A NM_198056.2:c.4859C>T NP_932173.1:p.Thr1620Met NM_000335.4:c.4856C>T:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 28, 2017 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10618304;19251209;20129283;20301690;21321465;21810866;23788249;25356965;27854360;9521325 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2000-01-04 0 0 +3 38603947 G A 38603947 38603947 - Haplotype 440850 RCV000010010 SCV000030231 38448 SCN5A NM_198056.2:c.3922C>T NP_932173.1:p.Leu1308Phe NM_000335.4:c.3919C>T:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 31, 2017 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10532948;15851227;18599870;19841300;20129283;20301690;21810866;23788249;25356965;27854360 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2008-08-15 2 0 3 38608046 G A 38608046 38608046 - Haplotype 440848 RCV000009965 SCV000030186 24410 SCN5A NM_198056.2:c.3694C>T NP_932173.1:p.Arg1232Trp NM_000335.4:c.3691C>T:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Sep 03, 2015 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10618304;19251209;20129283;20301690;21321465;21810866;23788249;25356965;27854360;9521325 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2000-01-04 1 1 -3 38645420 T C 38645420 38645420 - Haplotype 440849 RCV000010000 SCV000030221 38447 SCN5A NM_198056.2:c.1673A>G NP_932173.1:p.His558Arg NM_000335.4:c.1673A>G:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 14, 2016 OMIM OMIM Progressive familial heart block type 1A;PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA 10807545;11463728;11997281;12569159;12639704;14760;18378609;23788249;23994779;27854360 germline Genetic Alliance:Progressive+familial+heart+block+type+1A/5978;Genetics Home Reference:progressive-familial-heart-block;MedGen:C1879286;OMIM:113900;OMIM:600163.0009;OMIM:600163.0017;OMIM:600163.0018;OMIM:600163.0031;Office of Rare Diseases:1093;Orphanet:871 2008-04-15 2 0 +3 38645420 T C 38645420 38645420 - Haplotype 440849 RCV000010000 SCV000030221 38447 SCN5A NM_198056.2:c.1673A>G NP_932173.1:p.His558Arg NM_000335.4:c.1673A>G:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Progressive familial heart block type 1A;PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA 10807545;11463728;11997281;12569159;12639704;14760;18378609;23788249;23994779;27854360 germline Genetic Alliance:Progressive+familial+heart+block+type+1A/5978;Genetics Home Reference:progressive-familial-heart-block;MedGen:C1879286;OMIM:113900;OMIM:600163.0009;OMIM:600163.0017;OMIM:600163.0018;OMIM:600163.0031;Office of Rare Diseases:1093;Orphanet:871 2008-04-15 0 0 3 38645558 G A 38645558 38645558 - Haplotype 440849 RCV000010000 SCV000030221 24437 SCN5A NM_198056.2:c.1535C>T NP_932173.1:p.Thr512Ile NM_198056.2:c.1535C>T:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Mar 27, 2016 OMIM OMIM Progressive familial heart block type 1A;PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA 10807545;11463728;11997281;12569159;12639704;14760;18378609;23788249;23994779;27854360 germline Genetic Alliance:Progressive+familial+heart+block+type+1A/5978;Genetics Home Reference:progressive-familial-heart-block;MedGen:C1879286;OMIM:113900;OMIM:600163.0009;OMIM:600163.0017;OMIM:600163.0018;OMIM:600163.0031;Office of Rare Diseases:1093;Orphanet:871 2008-04-15 1 1 +3 38655243 C T 38655243 38655243 - Haplotype 440850 RCV000010010 SCV000030231 24446 SCN5A NM_001099404.1:c.703+223G>A NP_932173.1:p.Val232Ile NM_000335.4:c.694G>A:missense variant;NM_001099404.1:c.703+223G>A:intron variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Apr 21, 2017 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10532948;15851227;18599870;19841300;20129283;20301690;21810866;23788249;25356965;27854360 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2008-08-15 1 1 3 39307162 G A 39307162 39307162 - Haplotype 8152 RCV000008629;RCV000008630;RCV000023109 SCV000028837;SCV000028838;SCV000044400 36774 CX3CR1 NM_001171174.1:c.935C>T NP_001164645.1:p.Thr312Met NM_001171174.1:c.935C>T:missense variant - pathogenic;protective;risk factor 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 18, 2015 OMIM OMIM Human immunodeficiency virus type 1, rapid progression to AIDS;HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS;Coronary artery disease, resistance to;MACULAR DEGENERATION, AGE-RELATED, 12, SUSCEPTIBILITY TO 10731151;11264153;12697743;15208270;17909628;23716478 germline MedGen:C4016733;MedGen:C1832288;OMIM:601470.0001 2014-09-05;2015-05-18;2013-12-01 0 0 3 39307256 C T 39307256 39307256 - Haplotype 8152 RCV000008629;RCV000008630;RCV000023109 SCV000028837;SCV000028838;SCV000044400 23191 CX3CR1 NM_001171174.1:c.841G>A NP_001164645.1:p.Val281Ile NM_001171174.1:c.841G>A:missense variant - pathogenic;protective;risk factor 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 18, 2015 OMIM OMIM Human immunodeficiency virus type 1, rapid progression to AIDS;HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS;Coronary artery disease, resistance to;MACULAR DEGENERATION, AGE-RELATED, 12, SUSCEPTIBILITY TO 10731151;11264153;12697743;15208270;17909628;23716478 germline MedGen:C4016733;MedGen:C1832288;OMIM:601470.0001 2014-09-05;2015-05-18;2013-12-01 0 0 3 42733468 T C 42733468 42733468 + Haplotype 228777 RCV000213109 SCV000271889 229063 KLHL40 NM_152393.3:c.1849T>C NP_689606.2:p.Cys617Arg NM_152393.3:c.1849T>C:missense variant Benign uncertain significance 0 0 1 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 05, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-18 2 0 3 42733469 G A 42733469 42733469 + Haplotype 228777 RCV000213109 SCV000271889 229064 KLHL40 NM_152393.3:c.1850G>A NP_689606.2:p.Cys617Tyr NM_152393.3:c.1850G>A:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Dec 18, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-18 0 0 3 49160612 G A 49160612 49160612 - Haplotype 14535 RCV000015634 SCV000035899 38466 LAMB2 NM_002292.3:c.4177C>T NP_002283.3:p.Leu1393Phe NM_002292.3:c.4177C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 01, 2006 OMIM OMIM Nephrotic syndrome, type 5, with or without ocular abnormalities;NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES 16912710 germline Genetic Alliance:Nephrotic+syndrome%2C+type+5%2C+with+or+without+ocular+abnormalities/8989;MedGen:C3280113;OMIM:150325.0006;OMIM:150325.0007;OMIM:150325.0008;OMIM:150325.0009;OMIM:150325.0010;OMIM:150325.0011;OMIM:614199;Orphanet:306507 2006-09-01 0 0 -3 49160649 G T 49160649 49160649 - Haplotype 14535 RCV000015634 SCV000035899 29574 LAMB2 NM_002292.3:c.4140C>A NP_002283.3:p.Asn1380Lys NM_002292.3:c.4140C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 01, 2006 OMIM OMIM Nephrotic syndrome, type 5, with or without ocular abnormalities;NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES 16912710 germline Genetic Alliance:Nephrotic+syndrome%2C+type+5%2C+with+or+without+ocular+abnormalities/8989;MedGen:C3280113;OMIM:150325.0006;OMIM:150325.0007;OMIM:150325.0008;OMIM:150325.0009;OMIM:150325.0010;OMIM:150325.0011;OMIM:614199;Orphanet:306507 2006-09-01 0 0 -3 64142981 C T 64142981 64142981 - Haplotype 30731 RCV000023709 SCV000045000 39689 PRICKLE2 NM_198859.3:c.457G>A NP_942559.1:p.Val153Ile NM_198859.3:c.457G>A:missense variant Likely benign uncertain significance 0 0 1 0 0 criteria provided, single submitter no assertion criteria provided Sep 10, 2015 OMIM OMIM Epilepsy, progressive myoclonic 5;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 21276947;26942291;26942292;632821 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+5/8335;MedGen:CN226157;OMIM:613832;Orphanet:402082 2011-02-11 1 0 +3 49160649 G T 49160649 49160649 - Haplotype 14535 RCV000015634 SCV000035899 29574 LAMB2 NM_002292.3:c.4140C>A NP_002283.3:p.Asn1380Lys NM_002292.3:c.4140C>A:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Apr 25, 2017 OMIM OMIM Nephrotic syndrome, type 5, with or without ocular abnormalities;NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES 16912710 germline Genetic Alliance:Nephrotic+syndrome%2C+type+5%2C+with+or+without+ocular+abnormalities/8989;MedGen:C3280113;OMIM:150325.0006;OMIM:150325.0007;OMIM:150325.0008;OMIM:150325.0009;OMIM:150325.0010;OMIM:150325.0011;OMIM:614199;Orphanet:306507 2006-09-01 1 0 +3 52820981 A T 52820981 52820981 + Haplotype 14798 RCV000015921 SCV000036188 29837 ITIH1 NM_002215.3:c.1754A>T NP_002206.2:p.Glu585Val NM_002215.3:c.1754A>T:missense variant - benign 0 0 0 0 1 no assertion for the individual variant no assertion criteria provided Apr 01, 1995 OMIM OMIM INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM;INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM 7535743 germline OMIM:147270.0001;OMIM:147270.0002;OMIM:147270.0003 1995-04-01 0 0 +3 52821011 A G 52821011 52821011 + Haplotype 14798;14799 RCV000015921;RCV000015922 SCV000036188;SCV000036189 29838 ITIH1 NM_002215.3:c.1784A>G NP_002206.2:p.Gln595Arg NM_002215.3:c.1784A>G:missense variant - benign 0 0 0 0 2 no assertion for the individual variant no assertion criteria provided Apr 01, 1995 OMIM OMIM INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM 7535743 germline OMIM:147270.0001;OMIM:147270.0002;OMIM:147270.0003 1995-04-01 0 0 +3 64142981 C T 64142981 64142981 - Haplotype 30731 RCV000023709 SCV000045000 39689 PRICKLE2 NM_198859.3:c.457G>A NP_942559.1:p.Val153Ile NM_198859.3:c.457G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Oct 21, 2016 OMIM OMIM Epilepsy, progressive myoclonic 5;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 21276947;26942291;26942292;632821 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+5/8335;MedGen:CN226157;OMIM:613832;Orphanet:402082 2011-02-11 0 1 3 64142995 C T 64142995 64142995 - Haplotype 30731 RCV000023709 SCV000045000 39688 PRICKLE2 NM_198859.3:c.443G>A NP_942559.1:p.Arg148His NM_198859.3:c.443G>A:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Jan 20, 2015 OMIM OMIM Epilepsy, progressive myoclonic 5;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 21276947;26942291;26942292;632821 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+5/8335;MedGen:CN226157;OMIM:613832;Orphanet:402082 2011-02-11 0 0 3 114057857 C T 114057857 114057857 - Haplotype 253111 RCV000239523 SCV000297909 247522 ZBTB20 NM_001164342.2:c.2221G>A NP_001157814.1:p.Gly741Arg NM_001164342.2:c.2221G>A:missense variant;NR_121662.1:n.883G>A:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 08, 2016 OMIM OMIM Primrose syndrome;PRIMROSE SYNDROME 27061120 germline Genetic Alliance:Primrose+syndrome/5964;MedGen:C0796121;OMIM:259050;Office of Rare Diseases:4488 2016-08-08 0 0 3 114058231 G A 114058231 114058231 - Haplotype 253111 RCV000239523 SCV000297909 247523 ZBTB20 NM_001164342.2:c.1847C>T NP_001157814.1:p.Ser616Phe NM_001164342.2:c.1847C>T:missense variant;NR_121662.1:n.509C>T:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 08, 2016 OMIM OMIM Primrose syndrome;PRIMROSE SYNDROME 27061120 germline Genetic Alliance:Primrose+syndrome/5964;MedGen:C0796121;OMIM:259050;Office of Rare Diseases:4488 2016-08-08 0 0 3 124454069 A G 124454069 124454069 + Haplotype 11906 RCV000012681 SCV000032916 26945 UMPS NM_000373.3:c.286A>G NP_000364.1:p.Arg96Gly NM_000373.3:c.286A>G:missense variant;NR_033434.1:n.263-2346A>G:intron variant;NR_033437.1:n.491A>G:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 1997 OMIM OMIM Orotic aciduria;OROTIC ACIDURIA 9042911 germline Genetic Alliance:Orotic+aciduria+hereditary/5431;MedGen:C0268128;OMIM:258900;OMIM:258920;Orphanet:30;SNOMED CT:47641009;SNOMED CT:90093009 1997-03-01 0 0 3 124462773 G C 124462773 124462773 + Haplotype 11906 RCV000012681 SCV000032916 38455 UMPS NM_000373.3:c.1285G>C NP_000364.1:p.Gly429Arg NM_000373.3:c.1285G>C:missense variant;NR_033434.1:n.1237G>C:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 1997 OMIM OMIM Orotic aciduria;OROTIC ACIDURIA 9042911 germline Genetic Alliance:Orotic+aciduria+hereditary/5431;MedGen:C0268128;OMIM:258900;OMIM:258920;Orphanet:30;SNOMED CT:47641009;SNOMED CT:90093009 1997-03-01 0 0 +3 178936092 A C 178936092 178936092 + Haplotype 222469 RCV000144511 SCV000189830 28698 PIK3CA NM_006218.3:c.1634A>C NP_006209.2:p.Glu545Ala NM_006218.3:c.1634A>C:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 31, 2016 OMIM OMIM Cowden syndrome 5;COWDEN SYNDROME 5 23246288 germline MedGen:C3554518;OMIM:615108;Orphanet:201 2013-01-10 0 0 +3 178936116 GT C 178936116 178936117 + Haplotype 222469 RCV000144511 SCV000189830 166223 PIK3CA NM_006218.3:c.1658_1659delGTinsC NP_006209.2:p.Ser553Thrfs NM_006218.3:c.1658_1659delGTinsC:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 10, 2013 OMIM OMIM Cowden syndrome 5;COWDEN SYNDROME 5 23246288 germline MedGen:C3554518;OMIM:615108;Orphanet:201 2013-01-10 0 0 3 193355102 T C 193355102 193355102 + Haplotype 5089 RCV000005394 SCV000025574 101627 OPA1 NM_015560.2:c.870+32T>C NM_015560.2:c.870+32T>C:intron variant Benign risk factor 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Feb 22, 2013 OMIM OMIM Glaucoma, normal tension, susceptibility to;GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO 11810296;12073024;17188046;19581274 germline Genetic Alliance:Glaucoma%2C+normal+tension%2C+susceptibility+to/8467;MedGen:C1847730;OMIM:606657 2010-02-01 1 0 -4 996555 G C 996555 996555 + Haplotype 11911 RCV000012686 SCV000032921 26950 IDUA NM_000203.4:c.1225G>C NP_000194.2:p.Gly409Arg NM_000203.4:c.1225G>C:missense variant;NR_110313.1:n.1313G>C:non-coding transcript variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 08, 2016 OMIM OMIM Hurler syndrome;HURLER SYNDROME 20301341;8328452 germline GeneReviews:NBK1162;Genetic Alliance:Mucopolysaccharidosis+type+I/4912;MedGen:C0086795;OMIM:607014 1993-08-01 0 1 +4 996555 G C 996555 996555 + Haplotype 11911 RCV000012686 SCV000032921 26950 IDUA NM_000203.4:c.1225G>C NP_000194.2:p.Gly409Arg NM_000203.4:c.1225G>C:missense variant;NR_110313.1:n.1313G>C:non-coding transcript variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Sep 08, 2016 OMIM OMIM Hurler syndrome;HURLER SYNDROME 20301341;8328452 germline GeneReviews:NBK1162;Genetic Alliance:Mucopolysaccharidosis+type+I/4912;MedGen:C0086795;OMIM:607014 1993-08-01 1 1 4 998181 A T 998181 998181 + Haplotype 11911 RCV000012686 SCV000032921 38456 IDUA NM_000203.4:c.1962A>T NP_000194.2:p.Ter654Cys NM_000203.4:c.1962A>T:stop lost;NR_110313.1:n.2054A>T:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 01, 1993 OMIM OMIM Hurler syndrome;HURLER SYNDROME 20301341;8328452 germline GeneReviews:NBK1162;Genetic Alliance:Mucopolysaccharidosis+type+I/4912;MedGen:C0086795;OMIM:607014 1993-08-01 0 0 +4 1806111 T G 1806111 1806111 + Haplotype 441276 RCV000017763 SCV000038041 38477 FGFR3 NM_022965.3:c.931-440T>G NP_001156685.1:p.Leu379Arg NM_000142.4:c.1130T>G:missense variant;NM_022965.3:c.931-440T>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 01, 2006 OMIM OMIM Achondroplasia;ACHONDROPLASIA 16411219;20301331 gain of function germline GeneReviews:NBK1152;GeneTests:2789;Genetic Alliance:Achondroplasia/113;Genetic Testing Registry (GTR):GTR000017792;Genetic Testing Registry (GTR):GTR000193973;Genetic Testing Registry (GTR):GTR000226127;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000325183;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000332463;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000500431;Genetic Testing Registry (GTR):GTR000501373;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508972;Genetic Testing Registry (GTR):GTR000510685;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000523319;Genetic Testing Registry (GTR):GTR000529586;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000552209;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;Genetic Testing Registry (GTR):GTR000556521;MedGen:C0001080;OMIM:100800;Office of Rare Diseases:8173;Orphanet:15;SNOMED CT:86268005 2006-02-01 0 0 +4 1806119 G A 1806119 1806119 + Haplotype 441276 RCV000017763 SCV000038041 31366 FGFR3 NM_022965.3:c.931-432G>A NP_001156685.1:p.Gly382Arg NM_000142.4:c.1138G>A:missense variant;NM_022965.3:c.931-432G>A:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 26, 2017 OMIM OMIM Achondroplasia;ACHONDROPLASIA 16411219;20301331 gain of function germline GeneReviews:NBK1152;GeneTests:2789;Genetic Alliance:Achondroplasia/113;Genetic Testing Registry (GTR):GTR000017792;Genetic Testing Registry (GTR):GTR000193973;Genetic Testing Registry (GTR):GTR000226127;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000325183;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000332463;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000500431;Genetic Testing Registry (GTR):GTR000501373;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508972;Genetic Testing Registry (GTR):GTR000510685;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000523319;Genetic Testing Registry (GTR):GTR000529586;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000552209;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;Genetic Testing Registry (GTR):GTR000556521;MedGen:C0001080;OMIM:100800;Office of Rare Diseases:8173;Orphanet:15;SNOMED CT:86268005 2006-02-01 0 0 +4 1807123 A G 1807123 1807123 + Haplotype 441277 RCV000017771 SCV000038050 38478 FGFR3 NM_001163213.1:c.1460A>G NP_001156685.1:p.Gln487Arg NM_000142.4:c.1454A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 2009 OMIM OMIM Thanatophoric dysplasia type 1;THANATOPHORIC DYSPLASIA, TYPE I 19449430;20301540 gain of function germline GeneReviews:NBK1366;Genetic Alliance:Thanatophoric+dysplasia+type+1/7051;Genetic Testing Registry (GTR):GTR000226129;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000327813;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508990;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000530324;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;MedGen:C1868678;OMIM:187600;Office of Rare Diseases:9295;Orphanet:1860;Orphanet:2655 2009-06-01 0 0 +4 1807371 C A 1807371 1807371 + Haplotype 441277 RCV000017771 SCV000038050 31376 FGFR3 NM_001163213.1:c.1626C>A NP_001156685.1:p.Asn542Lys NM_000142.4:c.1620C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided May 16, 2017 OMIM OMIM Thanatophoric dysplasia type 1;THANATOPHORIC DYSPLASIA, TYPE I 19449430;20301540 gain of function germline GeneReviews:NBK1366;Genetic Alliance:Thanatophoric+dysplasia+type+1/7051;Genetic Testing Registry (GTR):GTR000226129;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000327813;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508990;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000530324;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;MedGen:C1868678;OMIM:187600;Office of Rare Diseases:9295;Orphanet:1860;Orphanet:2655 2009-06-01 2 0 4 70898903 G A 70898903 70898903 + Haplotype 14913 RCV000016048 SCV000036315 38467 HTN3 NM_000200.2:c.122G>A NP_000191.1:p.Arg41Gln NM_000200.2:c.122G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1994 OMIM OMIM HIS2*1/HIS2*2 POLYMORPHISM;HIS2*1/HIS2*2 POLYMORPHISM 7951254 germline OMIM:142702.0001 1994-01-01 0 0 4 70898922 T A 70898922 70898922 + Haplotype 14913 RCV000016048 SCV000036315 29952 HTN3 NM_000200.2:c.141T>A NP_000191.1:p.Tyr47Ter NM_000200.2:c.141T>A:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1994 OMIM OMIM HIS2*1/HIS2*2 POLYMORPHISM;HIS2*1/HIS2*2 POLYMORPHISM 7951254 germline OMIM:142702.0001 1994-01-01 0 0 4 103189073 C G 103189073 103189073 - Haplotype 218898 RCV000203237 SCV000258313 215658 SLC39A8 NM_022154.5:c.1004G>C NP_071437.3:p.Ser335Thr NM_022154.5:c.1004G>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 03, 2015 OMIM OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn 26637979 germline MedGen:C4225234;OMIM:608732.0001;OMIM:608732.0002;OMIM:608732.0003;OMIM:608732.0004;OMIM:616721 2015-12-03 0 0 @@ -149,78 +167,84 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 5 225549 G C 225549 225549 + Haplotype 190221 RCV000170440 SCV000222878 188048 SDHA NM_004168.3:c.328G>C NP_004159.2:p.Ala110Pro NM_001294332.1:c.313-449G>C:intron variant;NM_004168.3:c.328G>C:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 10, 2015 Mendelics Analise Genomica Mendelics Analise Genomica Mitochondrial complex II deficiency;Mitochondrial complex II deficiency 10746566;22972948 germline Genetic Alliance:Mitochondrial+complex+II+deficiency/4824;MedGen:C1855008;OMIM:252011;Office of Rare Diseases:5053;Orphanet:3208 2015-03-10 0 0 5 240589 A G 240589 240589 + Haplotype 190221 RCV000170440 SCV000222878 188049 SDHA NM_004168.3:c.1549A>G NP_004159.2:p.Lys517Glu NM_004168.3:c.1549A>G:missense variant Uncertain significance likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 10, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Mitochondrial complex II deficiency;Mitochondrial complex II deficiency 10746566;22972948 germline Genetic Alliance:Mitochondrial+complex+II+deficiency/4824;MedGen:C1855008;OMIM:252011;Office of Rare Diseases:5053;Orphanet:3208 2015-03-10 0 0 5 1266634 C T 1266634 1266634 - Haplotype 36946 RCV000030627 SCV000053305 45604 TERT NM_198253.2:c.2599G>A NP_937983.2:p.Val867Met NM_198253.2:c.2599G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 2011 OMIM OMIM Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;PULMONARY FIBROSIS, TELOMERE-RELATED, 1 21483807 germline MedGen:C3553617;OMIM:187270.0001;OMIM:187270.0002;OMIM:187270.0003;OMIM:187270.0004;OMIM:187270.0005;OMIM:187270.0008;OMIM:187270.0009;OMIM:187270.0010;OMIM:187270.0015;OMIM:187270.0016;OMIM:187270.0017;OMIM:614742;Orphanet:88 2011-03-01 0 0 -5 1272311 C T 1272311 1272311 - Haplotype 36946 RCV000030627 SCV000053305 45603 TERT NM_198253.2:c.2371G>A NP_937983.2:p.Val791Ile NM_198253.2:c.2371G>A:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 05, 2017 OMIM OMIM Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;PULMONARY FIBROSIS, TELOMERE-RELATED, 1 21483807 germline MedGen:C3553617;OMIM:187270.0001;OMIM:187270.0002;OMIM:187270.0003;OMIM:187270.0004;OMIM:187270.0005;OMIM:187270.0008;OMIM:187270.0009;OMIM:187270.0010;OMIM:187270.0015;OMIM:187270.0016;OMIM:187270.0017;OMIM:614742;Orphanet:88 2011-03-01 0 0 +5 1272311 C T 1272311 1272311 - Haplotype 36946 RCV000030627 SCV000053305 45603 TERT NM_198253.2:c.2371G>A NP_937983.2:p.Val791Ile NM_198253.2:c.2371G>A:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jul 18, 2017 OMIM OMIM Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;PULMONARY FIBROSIS, TELOMERE-RELATED, 1 21483807 germline MedGen:C3553617;OMIM:187270.0001;OMIM:187270.0002;OMIM:187270.0003;OMIM:187270.0004;OMIM:187270.0005;OMIM:187270.0008;OMIM:187270.0009;OMIM:187270.0010;OMIM:187270.0015;OMIM:187270.0016;OMIM:187270.0017;OMIM:614742;Orphanet:88 2011-03-01 1 0 5 41853537 A T 41853537 41853537 - Haplotype 8165 RCV000008643 SCV000028852 38389 OXCT1 NM_000436.3:c.398T>A NP_000427.1:p.Val133Glu NM_000436.3:c.398T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1998 OMIM OMIM Succinyl-CoA acetoacetate transferase deficiency;SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY 9671268 germline Genetic Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918;MedGen:C0342792;OMIM:245050;Office of Rare Diseases:5057;Orphanet:832;SNOMED CT:238004006 1998-01-01 0 0 -5 41862758 G A 41862758 41862758 - Haplotype 8165 RCV000008643 SCV000028852 23204 OXCT1 NM_000436.3:c.173C>T NP_000427.1:p.Thr58Met NM_000436.3:c.173C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1998 OMIM OMIM Succinyl-CoA acetoacetate transferase deficiency;SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY 9671268 germline Genetic Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918;MedGen:C0342792;OMIM:245050;Office of Rare Diseases:5057;Orphanet:832;SNOMED CT:238004006 1998-01-01 0 0 -5 112043220 A C 112043220 112043220 + Haplotype 243004 RCV000234986 SCV000292335 244097 APC NM_001127511.2:c.-195A>C NM_001127511.2:c.-195A>C:5 prime UTR variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 12, 2016 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 0 0 -5 112043289 GA G 112043290 112043290 + Haplotype 243004 RCV000234986 SCV000292335 244084 APC NM_001127511.2:c.-125delA NM_001127511.2:c.-125delA:5 prime UTR variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 12, 2016 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 0 0 +5 41862758 G A 41862758 41862758 - Haplotype 8165 RCV000008643 SCV000028852 23204 OXCT1 NM_000436.3:c.173C>T NP_000427.1:p.Thr58Met NM_000436.3:c.173C>T:missense variant Benign pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jul 31, 2017 OMIM OMIM Succinyl-CoA acetoacetate transferase deficiency;SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY 9671268 germline Genetic Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918;MedGen:C0342792;OMIM:245050;Office of Rare Diseases:5057;Orphanet:832;SNOMED CT:238004006 1998-01-01 1 0 +5 112043220 A C 112043220 112043220 + Haplotype 243004 RCV000234986 SCV000292335 244097 APC NM_001127511.2:c.-195A>C NM_001127511.2:c.-195A>C:5 prime UTR variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 12, 2016 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;Genetic Testing Registry (GTR):GTR000558907;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 0 0 +5 112043289 GA G 112043290 112043290 + Haplotype 243004 RCV000234986 SCV000292335 244084 APC NM_001127511.2:c.-125delA NM_001127511.2:c.-125delA:5 prime UTR variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 12, 2016 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;Genetic Testing Registry (GTR):GTR000558907;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 0 0 5 135392443 C A 135392443 135392443 + Haplotype 7874 RCV000008323 SCV000028531 22913 TGFBI NM_000358.2:c.1637C>A NP_000349.1:p.Ala546Asp NM_000358.2:c.1637C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 2004 OMIM OMIM Lattice corneal dystrophy Type I;CORNEAL DYSTROPHY, LATTICE TYPE I 15111592;15531312 germline Genetic Alliance:Lattice+corneal+dystrophy+type+1/4117;Genetics Home Reference:lattice-corneal-dystrophy-type-i;MedGen:C1690006;OMIM:122200;Office of Rare Diseases:9678;Orphanet:98964;SNOMED CT:419197009 2004-11-01 0 0 5 135392458 C A 135392458 135392458 + Haplotype 7874 RCV000008323 SCV000028531 38388 TGFBI NM_000358.2:c.1652C>A NP_000349.1:p.Pro551Gln NM_000358.2:c.1652C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 2004 OMIM OMIM Lattice corneal dystrophy Type I;CORNEAL DYSTROPHY, LATTICE TYPE I 15111592;15531312 germline Genetic Alliance:Lattice+corneal+dystrophy+type+1/4117;Genetics Home Reference:lattice-corneal-dystrophy-type-i;MedGen:C1690006;OMIM:122200;Office of Rare Diseases:9678;Orphanet:98964;SNOMED CT:419197009 2004-11-01 0 0 +5 171777409 GC G 171777410 171777410 - Distinct chromosomes 488055 RCV000577875 SCV000583573 15228 SH3PXD2B NM_001017995.2:c.969delG NP_001017995.1:p.Arg324Glyfs NM_001017995.2:c.969delG:frameshift variant Pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided criteria provided, single submitter Jun 01, 2017 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Frank Ter Haar syndrome;Opsismodysplasia 1;20137777;29276006 unknown Genetic Alliance:Frank+Ter+Haar+Syndrome/2915;Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;MedGen:C1855305;OMIM:249420;OMIM:258480;Office of Rare Diseases:4098;Office of Rare Diseases:5138;Orphanet:137834;Orphanet:2746;SNOMED CT:254068007 2017-06-01 0 0 5 176942003 G T 176942003 176942003 - Haplotype 403734 RCV000465916 SCV000541081 390711 DDX41 NM_016222.3:c.712C>A NP_057306.2:p.Pro238Thr NM_016222.3:c.712C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter - Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Acute myeloid leukemia;Myelodysplasia 20963938;22138009;23970018;26944477 germline GeneReviews:NBK47457;Genetic Testing Registry (GTR):GTR000500636;Human Phenotype Ontology:HP:0002863;Human Phenotype Ontology:HP:0004832;Human Phenotype Ontology:HP:0006730;MeSH:D015470;MedGen:C0023467;MedGen:C1851971;OMIM:601626;Orphanet:519;SNOMED CT:17788007 0000-00-00 0 0 5 176942004 C A 176942004 176942004 - Haplotype 403734 RCV000465916 SCV000541081 390712 DDX41 NM_016222.3:c.711G>T NP_057306.2:p.Leu237Phe NM_016222.3:c.711G>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter - Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Acute myeloid leukemia;Myelodysplasia 20963938;22138009;23970018;26944477 germline GeneReviews:NBK47457;Genetic Testing Registry (GTR):GTR000500636;Human Phenotype Ontology:HP:0002863;Human Phenotype Ontology:HP:0004832;Human Phenotype Ontology:HP:0006730;MeSH:D015470;MedGen:C0023467;MedGen:C1851971;OMIM:601626;Orphanet:519;SNOMED CT:17788007 0000-00-00 0 0 6 10874613 A T 10874613 10874613 - Haplotype 375590 RCV000417072 SCV000494617 362401 GCM2 NM_004752.3:c.1136T>A NP_004743.1:p.Leu379Gln NM_004752.3:c.1136T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 10, 2017 OMIM OMIM Hyperparathyroidism 4;HYPERPARATHYROIDISM 4 27745835 germline MedGen:CN240514;OMIM:617343 2017-02-10 0 0 6 10874998 G C 10874998 10874998 - Haplotype 375590 RCV000417072 SCV000494617 362400 GCM2 NM_004752.3:c.751C>G NP_004743.1:p.Gln251Glu NM_004752.3:c.751C>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 10, 2017 OMIM OMIM Hyperparathyroidism 4;HYPERPARATHYROIDISM 4 27745835 germline MedGen:CN240514;OMIM:617343 2017-02-10 0 0 -6 18130918 T C 18130918 18130918 - Haplotype 12722 RCV000013559 SCV000033806 27764 TPMT NM_000367.4:c.719A>G NP_000358.1:p.Tyr240Cys NM_000367.4:c.719A>G:missense variant drug response, other drug response 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 21, 2015 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 0 0 -6 18139228 C T 18139228 18139228 - Haplotype 12722 RCV000013559 SCV000033806 27761 TPMT NM_000367.4:c.460G>A NP_000358.1:p.Ala154Thr NM_000367.4:c.460G>A:missense variant drug response, other drug response 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 11, 2015 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 0 0 +6 18130918 T C 18130918 18130918 - Haplotype 12722 RCV000013559 SCV000033806 27764 TPMT NM_000367.4:c.719A>G NP_000358.1:p.Tyr240Cys NM_000367.4:c.719A>G:missense variant drug response, other drug response 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 21, 2015 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;Genetic Testing Registry (GTR):GTR000558523;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 0 0 +6 18139228 C T 18139228 18139228 - Haplotype 12722 RCV000013559 SCV000033806 27761 TPMT NM_000367.4:c.460G>A NP_000358.1:p.Ala154Thr NM_000367.4:c.460G>A:missense variant drug response, other drug response 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 11, 2015 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;Genetic Testing Registry (GTR):GTR000558523;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 0 0 6 32007584 T A 32007584 32007584 + Haplotype 31662 RCV000012947 SCV000033191 33507 CYP21A2 NM_000500.7:c.710T>A NP_000491.4:p.Ile237Asn NM_000500.7:c.710T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 01, 2005 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE 15623806;20301350;2249999;2845408 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2005-04-01 0 0 6 32007587 T A 32007587 32007587 + Haplotype 31662;65613 RCV000012947;RCV000055823 SCV000033191;SCV000086807 27212 CYP21A2 NM_000500.7:c.713T>A NP_000491.4:p.Val238Glu NM_000500.7:c.713T>A:missense variant - pathogenic;pathologic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 29, 2013 OMIM;GeneReviews OMIM;GeneReviews 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE;21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 15623806;20301350;2249999;2845408 germline;not provided GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2005-04-01;2013-08-29 0 0 6 32007593 T A 32007593 32007593 + Haplotype 31662;65613 RCV000012947;RCV000055823 SCV000033191;SCV000086807 40032 CYP21A2 NM_000500.7:c.719T>A NP_000491.4:p.Met240Lys NM_000500.7:c.719T>A:missense variant - pathogenic;pathologic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 29, 2013 OMIM;GeneReviews OMIM;GeneReviews 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE;21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 15623806;20301350;2249999;2845408 germline;not provided GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2005-04-01;2013-08-29 0 0 6 32007887 G T 32007887 32007887 + Haplotype 12182 RCV000417198 SCV000033208 27190 CYP21A2 NM_000500.7:c.844G>T NP_000491.4:p.Val282Leu NM_000500.7:c.844G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 18, 2017 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY 11093272;12915679;20301350;7629224 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2003-08-01 0 0 6 32007959 G GT 32007966 32007966 + Haplotype 12182 RCV000417198 SCV000033208 76519 CYP21A2 NM_000500.7:c.923dupT NP_000491.4:p.Leu308Phefs NM_000500.7:c.923dupT:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 29, 2013 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY 11093272;12915679;20301350;7629224 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2003-08-01 0 0 -6 32008198 C T 32008198 32008198 + Haplotype 12182 RCV000417198 SCV000033208 27208 CYP21A2 NM_000500.7:c.955C>T NP_000491.4:p.Gln319Ter NM_000500.7:c.955C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Sep 03, 2015 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY 11093272;12915679;20301350;7629224 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2003-08-01 1 0 -6 32008312 C T 32008312 32008312 + Haplotype 12182 RCV000417198 SCV000033208 27191 CYP21A2 NM_000500.7:c.1069C>T NP_000491.4:p.Arg357Trp NM_000500.7:c.1069C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 29, 2013 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY 11093272;12915679;20301350;7629224 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2003-08-01 0 0 +6 32008198 C T 32008198 32008198 + Haplotype 12182 RCV000417198 SCV000033208 27208 CYP21A2 NM_000500.7:c.955C>T NP_000491.4:p.Gln319Ter NM_000500.7:c.955C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Sep 03, 2015 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY 11093272;12915679;20301350;7629224 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2003-08-01 2 0 +6 32008312 C T 32008312 32008312 + Haplotype 12182 RCV000417198 SCV000033208 27191 CYP21A2 NM_000500.7:c.1069C>T NP_000491.4:p.Arg357Trp NM_000500.7:c.1069C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jan 16, 2015 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY 11093272;12915679;20301350;7629224 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2003-08-01 1 0 6 39877666 G A 39877666 39877666 - Haplotype 208497 RCV000190510 SCV000245396 205013 MOCS1 NM_001075098.3:c.1015C>T NP_001068566.1:p.Arg339Trp NM_001075098.3:c.1015C>T:missense variant;NR_033233.1:n.1022C>T:non-coding transcript variant Uncertain significance likely benign 0 0 0 1 0 no assertion for the individual variant no assertion criteria provided Jul 31, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Molybdenum cofactor deficiency, complementation group A 21031595 germline Genetics Home Reference:molybdenum-cofactor-deficiency;MedGen:C1854988;OMIM:252150;Orphanet:833 2016-05-13 0 0 -6 39880653 C T 39880653 39880653 - Haplotype 208497 RCV000190510 SCV000245396 205014 MOCS1 NM_005943.5:c.853G>A NP_005934.2:p.Glu285Lys NM_001075098.3:c.853G>A:missense variant;NR_033233.1:n.860G>A:non-coding transcript variant Uncertain significance likely benign 0 0 0 1 0 no assertion for the individual variant no assertion criteria provided Jul 31, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Molybdenum cofactor deficiency, complementation group A 21031595 germline Genetics Home Reference:molybdenum-cofactor-deficiency;MedGen:C1854988;OMIM:252150;Orphanet:833 2016-05-13 0 0 +6 39880653 C T 39880653 39880653 - Haplotype 208497 RCV000190510 SCV000245396 205014 MOCS1 NM_005943.5:c.853G>A NP_005934.2:p.Glu285Lys NM_001075098.3:c.853G>A:missense variant;NR_033233.1:n.860G>A:non-coding transcript variant Uncertain significance likely benign 0 0 0 1 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 31, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Molybdenum cofactor deficiency, complementation group A 21031595 germline Genetics Home Reference:molybdenum-cofactor-deficiency;MedGen:C1854988;OMIM:252150;Orphanet:833 2016-05-13 2 0 6 49580217 C T 49580217 49580217 - Haplotype 13065 RCV000013940 SCV000034187 38460 RHAG NM_000324.2:c.838G>A NP_000315.2:p.Gly280Arg NM_000324.2:c.838G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1999 OMIM OMIM Rh-null hemolytic anemia, regulator type;RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE 9915949 germline MedGen:C4016364 1999-01-01 0 0 6 49580247 C T 49580247 49580247 - Haplotype 13065 RCV000013940 SCV000034187 28104 RHAG NM_000324.2:c.808G>A NP_000315.2:p.Val270Ile NM_000324.2:c.808G>A:missense variant Benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 18, 2016 OMIM OMIM Rh-null hemolytic anemia, regulator type;RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE 9915949 germline MedGen:C4016364 1999-01-01 0 0 -6 52288909 C A 52288909 52288909 + Haplotype 2067 RCV000002148 SCV000022306 17106 EFHC1 NM_018100.3:c.229C>A NP_060570.2:p.Pro77Thr NM_018100.3:c.229C>A:missense variant;NR_033327.1:n.444C>A:non-coding transcript variant Conflicting interpretations of pathogenicity risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 18, 2017 OMIM OMIM Myoclonic epilepsy, juvenile 1;MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1 12439895;15258581 germline 2004-08-01 0 1 -6 52317574 G A 52317574 52317574 + Haplotype 2067 RCV000002148 SCV000022306 38421 EFHC1 NM_018100.3:c.662G>A NP_060570.2:p.Arg221His NM_018100.3:c.662G>A:missense variant;NR_033327.1:n.877G>A:non-coding transcript variant Conflicting interpretations of pathogenicity risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 18, 2017 OMIM OMIM Myoclonic epilepsy, juvenile 1;MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1 12439895;15258581 germline 2004-08-01 0 1 +6 52288909 C A 52288909 52288909 + Haplotype 2067 RCV000002148 SCV000022306 17106 EFHC1 NM_018100.3:c.229C>A NP_060570.2:p.Pro77Thr NM_018100.3:c.229C>A:missense variant;NR_033327.1:n.444C>A:non-coding transcript variant Conflicting interpretations of pathogenicity risk factor 0 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jul 24, 2017 OMIM OMIM Myoclonic epilepsy, juvenile 1;MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1 12439895;15258581 germline 2004-08-01 1 1 +6 52317574 G A 52317574 52317574 + Haplotype 2067 RCV000002148 SCV000022306 38421 EFHC1 NM_018100.3:c.662G>A NP_060570.2:p.Arg221His NM_018100.3:c.662G>A:missense variant;NR_033327.1:n.877G>A:non-coding transcript variant Conflicting interpretations of pathogenicity risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 24, 2017 OMIM OMIM Myoclonic epilepsy, juvenile 1;MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1 12439895;15258581 germline 2004-08-01 0 1 6 129601216 A C 129601216 129601216 + Haplotype 190218 RCV000170437 SCV000222875 188050 LAMA2 NM_000426.3:c.2461A>C NP_000417.2:p.Thr821Pro NM_000426.3:c.2461A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 08, 2015 Mendelics Analise Genomica Mendelics Analise Genomica Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468;21078917;22420014;22675738 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 2015-04-08 0 0 -6 129823841 T C 129823841 129823841 + Haplotype 190218 RCV000170437 SCV000222875 188051 LAMA2 NM_000426.3:c.8282T>C NP_000417.2:p.Ile2761Thr NM_000426.3:c.8282T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 08, 2015 Mendelics Analise Genomica Mendelics Analise Genomica Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468;21078917;22420014;22675738 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 2015-04-08 0 0 +6 129823841 T C 129823841 129823841 + Haplotype 190218 RCV000170437 SCV000222875 188051 LAMA2 NM_000426.3:c.8282T>C NP_000417.2:p.Ile2761Thr NM_000426.3:c.8282T>C:missense variant Likely benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 14, 2017 Mendelics Analise Genomica Mendelics Analise Genomica Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468;21078917;22420014;22675738 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 2015-04-08 0 0 +6 146720826 GGAA G 146720827 146720829 + Haplotype 453266 RCV000030784 SCV000053445 45814 GRM1 NM_001278064.1:c.2652_2654delGAA NP_001264993.1:p.Asn885del - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 25, 2012 OMIM OMIM Spinocerebellar ataxia, autosomal recessive 13;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 22901947 germline MedGen:C3553816;OMIM:614831;Orphanet:324262 2012-09-07 0 0 +6 146720837 T C 146720837 146720837 + Haplotype 453266 RCV000030784 SCV000053445 434131 GRM1 NM_001278064.1:c.2660+2T>C NM_001278064.1:c.2660+2T>C:splice donor variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 25, 2012 OMIM OMIM Spinocerebellar ataxia, autosomal recessive 13;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 22901947 germline MedGen:C3553816;OMIM:614831;Orphanet:324262 2012-09-07 0 0 6 152697578 C T 152697578 152697578 - Haplotype 92124 RCV000077790 SCV000109616 97550 SYNE1 NM_033071.3:c.9283G>A NP_149062.1:p.Ala3095Thr NM_182961.3:c.9262G>A:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Dec 01, 2013 OMIM OMIM Intellectual functioning disability;VARIANT OF UNKNOWN SIGNIFICANCE 21956720;24123876 germline MedGen:C0025362;SNOMED CT:228156007;SNOMED CT:91138005 2013-12-01 0 0 -6 152784621 T C 152784621 152784621 - Haplotype 92124 RCV000077790 SCV000109616 97551 SYNE1 NM_033071.3:c.1985A>G NP_149062.1:p.Gln662Arg NM_182961.3:c.1964A>G:missense variant Benign/Likely benign uncertain significance 0 0 1 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 07, 2017 OMIM OMIM Intellectual functioning disability;VARIANT OF UNKNOWN SIGNIFICANCE 21956720;24123876 germline MedGen:C0025362;SNOMED CT:228156007;SNOMED CT:91138005 2013-12-01 2 0 +6 152784621 T C 152784621 152784621 - Haplotype 92124 RCV000077790 SCV000109616 97551 SYNE1 NM_033071.3:c.1985A>G NP_149062.1:p.Gln662Arg NM_182961.3:c.1964A>G:missense variant Benign/Likely benign uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Jul 07, 2017 OMIM OMIM Intellectual functioning disability;VARIANT OF UNKNOWN SIGNIFICANCE 21956720;24123876 germline MedGen:C0025362;SNOMED CT:228156007;SNOMED CT:91138005 2013-12-01 0 0 7 87072999 G C 87072999 87072999 - Haplotype 217883 RCV000201938 SCV000256879 214536 ABCB4 NM_018849.2:c.1210C>G NP_061337.1:p.Pro404Ala NM_018849.2:c.1210C>G:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 25, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Progressive familial intrahepatic cholestasis 3 17726488;9419367 germline Genetic Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351;Genetics Home Reference:progressive-familial-intrahepatic-cholestasis;MedGen:C1865643;OMIM:602347;Office of Rare Diseases:1289;Orphanet:79305 2014-07-25 0 0 7 87082365 C T 87082365 87082365 - Haplotype 217883 RCV000201938 SCV000256879 214537 ABCB4 NM_018849.2:c.431G>A NP_061337.1:p.Arg144Gln NM_018849.2:c.431G>A:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 25, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Progressive familial intrahepatic cholestasis 3 17726488;9419367 germline Genetic Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351;Genetics Home Reference:progressive-familial-intrahepatic-cholestasis;MedGen:C1865643;OMIM:602347;Office of Rare Diseases:1289;Orphanet:79305 2014-07-25 0 0 -7 107336408 A C 107336408 107336408 + Haplotype 4816 RCV000005085 SCV000025261 38434 SLC26A4 NM_000441.1:c.1468A>C NP_000432.1:p.Ile490Leu NM_000441.1:c.1468A>C:missense variant Likely benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 2015 OMIM OMIM Enlarged vestibular aqueduct syndrome;DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 18310264;20301607;20301640;9500541 germline GeneReviews:NBK1467;Genetic Alliance:Enlarged+Vestibular+Aqueduct+Syndrome/2542;Genetic Testing Registry (GTR):GTR000500213;MedGen:C1863752;OMIM:600791;OMIM:601093.0001;OMIM:601093.0002;OMIM:602208.0008;OMIM:602208.0009;OMIM:605646.0004;OMIM:605646.0009;OMIM:605646.0010;OMIM:605646.0011;OMIM:605646.0012;OMIM:605646.0013;OMIM:605646.0014;OMIM:605646.0015;OMIM:605646.0027;OMIM:605646.0028;OMIM:605646.0029;OMIM:605646.0030;OMIM:605646.0031;Office of Rare Diseases:8651;Orphanet:90636 2008-07-01 0 0 +7 107336408 A C 107336408 107336408 + Haplotype 4816 RCV000005085 SCV000025261 38434 SLC26A4 NM_000441.1:c.1468A>C NP_000432.1:p.Ile490Leu NM_000441.1:c.1468A>C:missense variant Likely benign pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jul 01, 2015 OMIM OMIM Enlarged vestibular aqueduct syndrome;DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 18310264;20301607;20301640;9500541 germline GeneReviews:NBK1467;Genetic Alliance:Enlarged+Vestibular+Aqueduct+Syndrome/2542;Genetic Testing Registry (GTR):GTR000500213;MedGen:C1863752;OMIM:600791;OMIM:601093.0001;OMIM:601093.0002;OMIM:602208.0008;OMIM:602208.0009;OMIM:605646.0004;OMIM:605646.0009;OMIM:605646.0010;OMIM:605646.0011;OMIM:605646.0012;OMIM:605646.0013;OMIM:605646.0014;OMIM:605646.0015;OMIM:605646.0027;OMIM:605646.0028;OMIM:605646.0029;OMIM:605646.0030;OMIM:605646.0031;Office of Rare Diseases:8651;Orphanet:90636 2008-07-01 1 0 7 107336429 G A 107336429 107336429 + Haplotype 4816 RCV000005085 SCV000025261 19855 SLC26A4 NM_000441.1:c.1489G>A NP_000432.1:p.Gly497Ser NM_000441.1:c.1489G>A:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 30, 2017 OMIM OMIM Enlarged vestibular aqueduct syndrome;DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 18310264;20301607;20301640;9500541 germline GeneReviews:NBK1467;Genetic Alliance:Enlarged+Vestibular+Aqueduct+Syndrome/2542;Genetic Testing Registry (GTR):GTR000500213;MedGen:C1863752;OMIM:600791;OMIM:601093.0001;OMIM:601093.0002;OMIM:602208.0008;OMIM:602208.0009;OMIM:605646.0004;OMIM:605646.0009;OMIM:605646.0010;OMIM:605646.0011;OMIM:605646.0012;OMIM:605646.0013;OMIM:605646.0014;OMIM:605646.0015;OMIM:605646.0027;OMIM:605646.0028;OMIM:605646.0029;OMIM:605646.0030;OMIM:605646.0031;Office of Rare Diseases:8651;Orphanet:90636 2008-07-01 2 0 -7 117171029 G A 117171029 117171029 + Haplotype 209047 RCV000190992 SCV000245925 22148 CFTR NM_000492.3:c.350G>A NP_000483.3:p.Arg117His NM_000492.3:c.350G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 practice guideline reviewed by expert panel May 22, 2017 CFTR2 CFTR2 Cystic fibrosis;Cystic fibrosis 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;23974870;24014130;25431289;25981758 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 0000-00-00 4 0 -7 117180359 C A 117180359 117180359 + Haplotype 40200 RCV000007589 SCV000027790 22208 CFTR NM_000492.3:c.1075C>A NP_000483.3:p.Gln359Lys NM_000492.3:c.1075C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1993 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 0 0 -7 117180363 C A 117180363 117180363 + Haplotype 40200 RCV000007589 SCV000027790 38441 CFTR NM_000492.3:c.1079C>A NP_000483.3:p.Thr360Lys NM_000492.3:c.1079C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1993 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 0 0 -7 117243663 C T 117243663 117243663 + Haplotype 7239 RCV000007661 SCV000027862 22244 CFTR NM_000492.3:c.2735C>T NP_000483.3:p.Ser912Leu NM_000492.3:c.2735C>T:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Feb 01, 2017 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 2 0 -7 117282505 G T 117282505 117282505 + Haplotype 7239 RCV000007661 SCV000027862 22278 CFTR NM_000492.3:c.3731G>T NP_000483.3:p.Gly1244Val NM_000492.3:c.3731G>T:missense variant not provided pathogenic 1 0 0 0 0 no assertion provided no assertion criteria provided Feb 01, 2013 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 0 0 +7 117171029 G A 117171029 117171029 + Haplotype 209047 RCV000190992 SCV000245925 22148 CFTR NM_000492.3:c.350G>A NP_000483.3:p.Arg117His NM_000492.3:c.350G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 practice guideline reviewed by expert panel Oct 31, 2017 CFTR2 CFTR2 Cystic fibrosis;Cystic fibrosis 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;23974870;24014130;25431289;25981758 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 0000-00-00 4 0 +7 117180359 C A 117180359 117180359 + Haplotype 40200 RCV000007589 SCV000027790 22208 CFTR NM_000492.3:c.1075C>A NP_000483.3:p.Gln359Lys NM_000492.3:c.1075C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1993 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 0 0 +7 117180363 C A 117180363 117180363 + Haplotype 40200 RCV000007589 SCV000027790 38441 CFTR NM_000492.3:c.1079C>A NP_000483.3:p.Thr360Lys NM_000492.3:c.1079C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1993 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 0 0 +7 117243663 C T 117243663 117243663 + Haplotype 7239 RCV000007661 SCV000027862 22244 CFTR NM_000492.3:c.2735C>T NP_000483.3:p.Ser912Leu NM_000492.3:c.2735C>T:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 03, 2017 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 2 0 +7 117282505 G T 117282505 117282505 + Haplotype 7239 RCV000007661 SCV000027862 22278 CFTR NM_000492.3:c.3731G>T NP_000483.3:p.Gly1244Val NM_000492.3:c.3731G>T:missense variant not provided pathogenic 1 0 0 0 0 no assertion provided no assertion criteria provided May 01, 2005 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 0 0 8 1719428 C T 1719428 1719428 + Haplotype 217887 RCV000201947 SCV000256883 214538 CLN8 NM_018941.3:c.208C>T NP_061764.2:p.Arg70Cys NM_018941.3:c.208C>T:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 18, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 8 16570191;20301601 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 2014-08-18 0 0 -8 1728664 C G 1728664 1728664 + Haplotype 217887 RCV000201947 SCV000256883 106601 CLN8 NM_018941.3:c.792C>G NP_061764.2:p.Asn264Lys NM_018941.3:c.792C>G:missense variant Pathogenic likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 18, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 8 16570191;20301601 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 2014-08-18 0 0 +8 1728664 C G 1728664 1728664 + Haplotype 217887 RCV000201947 SCV000256883 106601 CLN8 NM_018941.3:c.792C>G NP_061764.2:p.Asn264Lys NM_018941.3:c.792C>G:missense variant Pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided Aug 18, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 8 16570191;20301601 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 2014-08-18 0 0 8 30922450 A T 30922450 30922450 + Haplotype 5453 RCV000005786 SCV000025968 20492 WRN NM_000553.5:c.375A>T NP_000544.2:p.Lys125Asn NM_000553.5:c.375A>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 2006 OMIM OMIM Werner syndrome;WERNER SYNDROME 16673358;20301687;22258520 germline GeneReviews:NBK1514;Genetic Alliance:Werner%27s+syndrome/7471;Genetics Home Reference:werner-syndrome;MedGen:C0043119;OMIM:277700;Office of Rare Diseases:7885;Orphanet:902;SNOMED CT:51626007 2006-06-01 0 0 8 30922478 A G 30922478 30922478 + Haplotype 5453 RCV000005786 SCV000025968 38386 WRN NM_000553.5:c.403A>G NP_000544.2:p.Lys135Glu NM_000553.5:c.403A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 2006 OMIM OMIM Werner syndrome;WERNER SYNDROME 16673358;20301687;22258520 germline GeneReviews:NBK1514;Genetic Alliance:Werner%27s+syndrome/7471;Genetics Home Reference:werner-syndrome;MedGen:C0043119;OMIM:277700;Office of Rare Diseases:7885;Orphanet:902;SNOMED CT:51626007 2006-06-01 0 0 8 38271684 G C 38271684 38271684 - Haplotype 16292 RCV000030930 SCV000037962 38475 FGFR1 NM_023110.2:c.2172C>G NP_075598.2:p.Asn724Lys NM_023110.2:c.2172C>G:missense variant - risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 18, 2006 OMIM OMIM Kallmann syndrome 2;HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO 16606836;20301509 loss of function germline Endocrinology Clinic, Seth G.S. Medical College:FGFR1sn_4;GeneReviews:NBK1334;Genetic Alliance:Kallmann+syndrome+2/3947;Genetic Testing Registry (GTR):GTR000508944;Genetic Testing Registry (GTR):GTR000511562;Genetic Testing Registry (GTR):GTR000511608;Genetic Testing Registry (GTR):GTR000511609;Genetic Testing Registry (GTR):GTR000511610;Genetic Testing Registry (GTR):GTR000511611;Genetic Testing Registry (GTR):GTR000511612;Genetic Testing Registry (GTR):GTR000511613;Genetic Testing Registry (GTR):GTR000512869;Genetic Testing Registry (GTR):GTR000556729;Genetic Testing Registry (GTR):GTR000556731;Genetic Testing Registry (GTR):GTR000558347;MedGen:C1563720;OMIM:136350.0004;OMIM:136350.0013;OMIM:136350.0014;OMIM:136350.0015;OMIM:136350.0016;OMIM:136350.0020;OMIM:136350.0023;OMIM:136350.0024;OMIM:136350.0025;OMIM:147950;Office of Rare Diseases:3070;Orphanet:478 2006-04-18 0 0 8 38271691 G T 38271691 38271691 - Haplotype 16292 RCV000030930 SCV000037962 31331 FGFR1 NM_023110.2:c.2165C>A NP_075598.2:p.Pro722His NM_023110.2:c.2165C>A:missense variant - risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 18, 2006 OMIM OMIM Kallmann syndrome 2;HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO 16606836;20301509 loss of function germline Endocrinology Clinic, Seth G.S. Medical College:FGFR1sn_4;GeneReviews:NBK1334;Genetic Alliance:Kallmann+syndrome+2/3947;Genetic Testing Registry (GTR):GTR000508944;Genetic Testing Registry (GTR):GTR000511562;Genetic Testing Registry (GTR):GTR000511608;Genetic Testing Registry (GTR):GTR000511609;Genetic Testing Registry (GTR):GTR000511610;Genetic Testing Registry (GTR):GTR000511611;Genetic Testing Registry (GTR):GTR000511612;Genetic Testing Registry (GTR):GTR000511613;Genetic Testing Registry (GTR):GTR000512869;Genetic Testing Registry (GTR):GTR000556729;Genetic Testing Registry (GTR):GTR000556731;Genetic Testing Registry (GTR):GTR000558347;MedGen:C1563720;OMIM:136350.0004;OMIM:136350.0013;OMIM:136350.0014;OMIM:136350.0015;OMIM:136350.0016;OMIM:136350.0020;OMIM:136350.0023;OMIM:136350.0024;OMIM:136350.0025;OMIM:147950;Office of Rare Diseases:3070;Orphanet:478 2006-04-18 0 0 -8 143994266 A G 143994266 143994266 - Haplotype 16876;16877 RCV000018372;RCV000018373 SCV000038654;SCV000038655 31916 CYP11B2 NM_000498.3:c.1157T>C NP_000489.3:p.Val386Ala NM_000498.3:c.1157T>C:missense variant Benign pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Corticosterone methyloxidase type 2 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY;Corticosterone methyloxidase type 1 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY 1346492;1594605;3262827;4121586;830445;838841;9814506 loss of function germline Genetic Alliance:Corticosterone+methyloxidase+type+2+deficiency/8102;Genetic Testing Registry (GTR):GTR000500407;Genetics Home Reference:corticosterone-methyloxidase-deficiency;MedGen:C3463917;OMIM:610600;Orphanet:427;Genetic Alliance:Corticosterone+methyloxidase+type+1+deficiency/8101;Genetic Testing Registry (GTR):GTR000507687;MedGen:CN074214;OMIM:203400;Office of Rare Diseases:5660 1992-06-01;1998-11-01 0 0 +8 143994266 A G 143994266 143994266 - Haplotype 16876;16877 RCV000018372;RCV000018373 SCV000038654;SCV000038655 31916 CYP11B2 NM_000498.3:c.1157T>C NP_000489.3:p.Val386Ala NM_000498.3:c.1157T>C:missense variant Benign pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 14, 2016 OMIM OMIM Corticosterone methyloxidase type 2 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY;Corticosterone methyloxidase type 1 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY 1346492;1594605;3262827;4121586;830445;838841;9814506 loss of function germline Genetic Alliance:Corticosterone+methyloxidase+type+2+deficiency/8102;Genetic Testing Registry (GTR):GTR000500407;Genetics Home Reference:corticosterone-methyloxidase-deficiency;MedGen:C3463917;OMIM:610600;Orphanet:427;Genetic Alliance:Corticosterone+methyloxidase+type+1+deficiency/8101;Genetic Testing Registry (GTR):GTR000507687;MedGen:CN074214;OMIM:203400;Office of Rare Diseases:5660 1992-06-01;1998-11-01 1 0 8 143996463 T G 143996463 143996463 - Haplotype 16877 RCV000018373 SCV000038655 38484 CYP11B2 NM_000498.3:c.594A>C NP_000489.3:p.Glu198Asp NM_000498.3:c.594A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 1998 OMIM OMIM Corticosterone methyloxidase type 1 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY 9814506 loss of function germline Genetic Alliance:Corticosterone+methyloxidase+type+1+deficiency/8101;Genetic Testing Registry (GTR):GTR000500407;Genetic Testing Registry (GTR):GTR000507687;Genetics Home Reference:corticosterone-methyloxidase-deficiency;MedGen:CN074214;OMIM:203400;Office of Rare Diseases:5660;Orphanet:427 1998-11-01 0 0 8 143996516 G A 143996516 143996516 - Haplotype 16876 RCV000018372 SCV000038654 31915 CYP11B2 NM_000498.3:c.541C>T NP_000489.3:p.Arg181Trp NM_000498.3:c.541C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 1992 OMIM OMIM Corticosterone methyloxidase type 2 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY 1346492;1594605;3262827;4121586;830445;838841 loss of function germline Genetic Alliance:Corticosterone+methyloxidase+type+2+deficiency/8102;Genetic Testing Registry (GTR):GTR000500407;Genetics Home Reference:corticosterone-methyloxidase-deficiency;MedGen:C3463917;OMIM:610600;Orphanet:427 1992-06-01 0 0 9 2115860 G C 2115860 2115860 + Haplotype 374221 RCV000415335 SCV000493071 361134 SMARCA2 NM_003070.4:c.3495G>C NP_003061.3:p.Gln1165His NM_003070.4:c.3495G>C:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided - Laboratory of Molecular Genetics,CHU RENNES Laboratory of Molecular Genetics,CHU RENNES Nicolaides-Baraitser syndrome;Nicolaides Baraitser syndrome 26468571 de novo GeneReviews:NBK321516;Genetic Alliance:Nicolaides+Baraitser+syndrome/5221;Genetics Home Reference:nicolaides-baraitser-syndrome;MedGen:C1303073;OMIM:601358;Orphanet:3051;SNOMED CT:401046009 0000-00-00 0 0 9 2123873 G A 2123873 2123873 + Haplotype 374221 RCV000415335 SCV000493071 361135 SMARCA2 NM_003070.4:c.3917G>A NP_003061.3:p.Arg1306Lys NM_003070.4:c.3917G>A:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided - Laboratory of Molecular Genetics,CHU RENNES Laboratory of Molecular Genetics,CHU RENNES Nicolaides-Baraitser syndrome;Nicolaides Baraitser syndrome 26468571 de novo GeneReviews:NBK321516;Genetic Alliance:Nicolaides+Baraitser+syndrome/5221;Genetics Home Reference:nicolaides-baraitser-syndrome;MedGen:C1303073;OMIM:601358;Orphanet:3051;SNOMED CT:401046009 0000-00-00 0 0 -9 34646572 CCAGT C 34646583 34646586 + Haplotype 140570 RCV000128642 SCV000148002 36445 GALT NM_000155.3:c.-67-52_-67-49delGTCA NM_000155.3:c.-119_-116del:2KB upstream variant;NM_000155.3:c.-67-52_-67-49delGTCA:intron variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided May 05, 2017 GeneReviews GeneReviews Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 10408771;10424825;10649501;11216901;11286503;11754113;15633893;15841485;16838075;19224951;2011574;20301691;22475884;25473725 germline GeneReviews:NBK1518;Genetic Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206;MedGen:C0268151;OMIM:230400;Office of Rare Diseases:2424;Orphanet:352;Orphanet:79239;SNOMED CT:124354006 2014-04-03 1 1 -9 34648418 C T 34648418 34648418 + Haplotype 3620 RCV000003804 SCV000023969 18659 GALT NM_000155.3:c.652C>T NP_000146.2:p.Leu218= NM_000155.3:c.652C>T:synonymous variant Benign/Likely benign, other benign 0 0 0 0 1 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 14, 2016 OMIM OMIM GALT POLYMORPHISM (LOS ANGELES, D1);GALT POLYMORPHISM (LOS ANGELES, D1) 10408771;10424825;19224951;2011574;4759900;8522334;9012409 germline OMIM:606999.0012 2009-05-01 2 0 -9 34649442 A G 34649442 34649442 + Haplotype 140570;3620 RCV000128642;RCV000003804 SCV000148002;SCV000023969 18652 GALT NM_000155.3:c.940A>G NP_000146.2:p.Asn314Asp NM_000155.3:c.940A>G:missense variant Conflicting interpretations of pathogenicity, other pathogenic;benign 1 0 0 0 1 criteria provided, conflicting interpretations no assertion criteria provided Jun 09, 2017 GeneReviews;OMIM GeneReviews;OMIM Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;GALT POLYMORPHISM (LOS ANGELES, D1) 10408771;10424825;10649501;11216901;11286503;11754113;15633893;15841485;16838075;19224951;2011574;20301691;22475884;25473725;4759900;8522334;9012409 germline GeneReviews:NBK1518;Genetic Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206;MedGen:C0268151;OMIM:230400;Office of Rare Diseases:2424;Orphanet:352;Orphanet:79239;SNOMED CT:124354006;OMIM:606999.0012 2014-04-03;2009-05-01 1 1 +9 34646572 CCAGT C 34646583 34646586 + Haplotype 140570 RCV000128642 SCV000148002 36445 GALT NM_000155.3:c.-67-52_-67-49delGTCA NM_000155.3:c.-119_-116del:2KB upstream variant;NM_000155.3:c.-67-52_-67-49delGTCA:intron variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Nov 09, 2017 GeneReviews GeneReviews Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 10408771;10424825;10649501;11216901;11286503;11754113;15633893;15841485;16838075;19224951;2011574;20301691;22475884;25473725 germline GeneReviews:NBK1518;Genetic Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206;MedGen:C0268151;OMIM:230400;Office of Rare Diseases:2424;Orphanet:352;Orphanet:79239;SNOMED CT:124354006 2014-04-03 1 1 +9 34648418 C T 34648418 34648418 + Haplotype 3620 RCV000003804 SCV000023969 18659 GALT NM_000155.3:c.652C>T NP_000146.2:p.Leu218= NM_000155.3:c.652C>T:synonymous variant Benign/Likely benign, other benign 0 0 0 0 1 criteria provided, multiple submitters, no conflicts no assertion criteria provided May 08, 2017 OMIM OMIM GALT POLYMORPHISM (LOS ANGELES, D1);GALT POLYMORPHISM (LOS ANGELES, D1) 10408771;10424825;19224951;2011574;4759900;8522334;9012409 germline OMIM:606999.0012 2009-05-01 2 0 +9 34649442 A G 34649442 34649442 + Haplotype 140570;3620 RCV000128642;RCV000003804 SCV000148002;SCV000023969 18652 GALT NM_000155.3:c.940A>G NP_000146.2:p.Asn314Asp NM_000155.3:c.940A>G:missense variant Conflicting interpretations of pathogenicity, other pathogenic;benign 1 0 0 0 1 criteria provided, conflicting interpretations no assertion criteria provided Jul 26, 2017 GeneReviews;OMIM GeneReviews;OMIM Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;GALT POLYMORPHISM (LOS ANGELES, D1) 10408771;10424825;10649501;11216901;11286503;11754113;15633893;15841485;16838075;19224951;2011574;20301691;22475884;25473725;4759900;8522334;9012409 germline GeneReviews:NBK1518;Genetic Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206;MedGen:C0268151;OMIM:230400;Office of Rare Diseases:2424;Orphanet:352;Orphanet:79239;SNOMED CT:124354006;OMIM:606999.0012 2014-04-03;2009-05-01 1 1 9 37424827 TCC T 37424829 37424830 + Haplotype 204246 RCV000186453 SCV000239808 200618 GRHPR NM_012203.1:c.84-13_84-12delCC NM_012203.1:c.84-13_84-12delCC:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 27, 2014 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type II;Primary hyperoxaluria, type II 14635115;20301742 loss of function germline GeneReviews:NBK2692;Genetic Alliance:Primary+hyperoxaluria+type+2/5948;Genetic Testing Registry (GTR):GTR000118462;Genetic Testing Registry (GTR):GTR000507682;Genetic Testing Registry (GTR):GTR000522211;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268165;OMIM:260000;Office of Rare Diseases:2836;Orphanet:416;Orphanet:93599;SNOMED CT:40951006 2014-11-27 0 0 9 37424833 TCCCC T 37424834 37424837 + Haplotype 204246 RCV000186453 SCV000239808 200619 GRHPR NM_012203.1:c.84-8_84-5delCCCC NM_012203.1:c.84-8_84-5delCCCC:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 27, 2014 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type II;Primary hyperoxaluria, type II 14635115;20301742 loss of function germline GeneReviews:NBK2692;Genetic Alliance:Primary+hyperoxaluria+type+2/5948;Genetic Testing Registry (GTR):GTR000118462;Genetic Testing Registry (GTR):GTR000507682;Genetic Testing Registry (GTR):GTR000522211;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268165;OMIM:260000;Office of Rare Diseases:2836;Orphanet:416;Orphanet:93599;SNOMED CT:40951006 2014-11-27 0 0 -9 101340316 T C 101340316 101340316 - Haplotype 3331 RCV000003495 SCV000023653 18370 GABBR2 NM_005458.7:c.360A>G NP_005449.5:p.Ala120= NM_005458.7:c.360A>G:synonymous variant - risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 09, 2010 OMIM OMIM Tobacco addiction, susceptibility to;NICOTINE DEPENDENCE, SUSCEPTIBILITY TO 15759211 germline Genetic Alliance:Tobacco+addiction%2C+susceptibility+to/9410;MedGen:C1861063;OMIM:188890;OMIM:607340.0001;OMIM:607340.0002 2010-06-09 0 0 +9 101340316 T C 101340316 101340316 - Haplotype 3331 RCV000003495 SCV000023653 18370 GABBR2 NM_005458.7:c.360A>G NP_005449.5:p.Ala120= NM_005458.7:c.360A>G:synonymous variant - risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 2005 OMIM OMIM Tobacco addiction, susceptibility to;NICOTINE DEPENDENCE, SUSCEPTIBILITY TO 15759211 germline Genetic Alliance:Tobacco+addiction%2C+susceptibility+to/9410;MedGen:C1861063;OMIM:188890;OMIM:607340.0001;OMIM:607340.0002 2005-05-01 0 0 9 127262853 G A 127262853 127262853 - Haplotype 12809 RCV000013657;RCV000022775 SCV000033904;SCV000044064 38458 NR5A1 NM_004959.4:c.386C>T NP_004950.2:p.Pro129Leu NM_004959.4:c.386C>T:missense variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 08, 2010 OMIM OMIM Premature ovarian failure 7;PREMATURE OVARIAN FAILURE 7;Spermatogenic failure 8 19246354;20887963 germline Genetic Alliance:Premature+ovarian+failure+7/9153;MedGen:C2751825;OMIM:612964;Genetic Alliance:Spermatogenic+failure+8/9327;MedGen:C3151406;OMIM:613957 2010-10-08 0 0 9 127262871 C G 127262871 127262871 - Haplotype 12809 RCV000013657;RCV000022775 SCV000033904;SCV000044064 27848 NR5A1 NM_004959.4:c.368G>C NP_004950.2:p.Gly123Ala NM_004959.4:c.368G>C:missense variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 08, 2010 OMIM OMIM Premature ovarian failure 7;PREMATURE OVARIAN FAILURE 7;Spermatogenic failure 8 19246354;20887963 germline Genetic Alliance:Premature+ovarian+failure+7/9153;MedGen:C2751825;OMIM:612964;Genetic Alliance:Spermatogenic+failure+8/9327;MedGen:C3151406;OMIM:613957 2010-10-08 0 0 -9 135203176 G A 135203176 135203176 - Phase unknown 157525 RCV000144869 SCV000172140 167387 SETX NM_015046.5:c.3809C>T NP_055861.3:p.Pro1270Leu NM_015046.5:c.3809C>T:missense variant Likely benign uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 0 0 +9 135203105 G A 135203105 135203105 - Haplotype 441281 RCV000002384 SCV000022542 38425 SETX NM_015046.5:c.3880C>T NP_055861.3:p.Arg1294Cys NM_015046.5:c.3880C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 23, 2006 OMIM OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 16717225;20050888;20301317;20301333 germline GeneReviews:NBK1154;Genetic Alliance:Spinocerebellar+ataxia+autosomal+recessive+1/6771;Genetics Home Reference:ataxia-with-oculomotor-apraxia;MedGen:C1853761;OMIM:606002;Office of Rare Diseases:4949;Orphanet:64753 2006-05-23 0 0 +9 135203176 G A 135203176 135203176 - Phase unknown 157525 RCV000144869 SCV000172140 167387 SETX NM_015046.5:c.3809C>T NP_055861.3:p.Pro1270Leu NM_015046.5:c.3809C>T:missense variant Likely benign uncertain significance 0 0 1 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Nov 09, 2016 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 2 0 9 135203908 C CTCA 135203909 135203910 Distinct chromosomes 157528 RCV000144873 SCV000172145 167390 REEP1 NM_015046.5:c.3075_3076insTGA NP_055861.3:p.Arg1026_Lys1360delinsTer NM_015046.5:c.3075_3076insTGA:inframe_variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 2013 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type|spasticity;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 0 0 -9 135224757 C T 135224757 135224757 - Phase unknown 157525 RCV000144869 SCV000172140 167386 SETX NM_015046.5:c.59G>A NP_055861.3:p.Arg20His NM_015046.5:c.59G>A:missense variant Benign/Likely benign uncertain significance 0 0 1 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Oct 06, 2016 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 2 0 +9 135205028 G T 135205028 135205028 - Haplotype 441280 RCV000002383 SCV000022541 38424 SETX NM_015046.5:c.1957C>A NP_055861.3:p.Gln653Lys NM_015046.5:c.1957C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 2007 OMIM OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 17096168;20050888;20301317;20301333 germline GeneReviews:NBK1154;Genetic Alliance:Spinocerebellar+ataxia+autosomal+recessive+1/6771;Genetics Home Reference:ataxia-with-oculomotor-apraxia;MedGen:C1853761;OMIM:606002;Office of Rare Diseases:4949;Orphanet:64753 2007-01-01 0 0 +9 135205178 T C 135205178 135205178 - Haplotype 441280 RCV000002383 SCV000022541 17332 SETX NM_015046.5:c.1807A>G NP_055861.3:p.Asn603Asp NM_015046.5:c.1807A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 2007 OMIM OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 17096168;20050888;20301317;20301333 germline GeneReviews:NBK1154;Genetic Alliance:Spinocerebellar+ataxia+autosomal+recessive+1/6771;Genetics Home Reference:ataxia-with-oculomotor-apraxia;MedGen:C1853761;OMIM:606002;Office of Rare Diseases:4949;Orphanet:64753 2007-01-01 0 0 +9 135224757 C T 135224757 135224757 - Phase unknown 157525 RCV000144869 SCV000172140 167386 SETX NM_015046.5:c.59G>A NP_055861.3:p.Arg20His NM_015046.5:c.59G>A:missense variant Benign/Likely benign uncertain significance 0 0 1 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 31, 2017 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 2 0 9 136131315 C G 136131315 136131315 - Haplotype 17738 RCV000019312 SCV000039601 38414 ABO NM_020469.2:c.803G>C NP_065202.2:p.Gly268Ala NM_020469.2:c.803G>C:missense variant - association 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 18, 2015 OMIM OMIM ABO blood group system;ABO BLOOD GROUP SYSTEM, CIS-AB PHENOTYPE 14170898;6775529;8456556 germline MedGen:C0000778;OMIM:110300.0001;OMIM:110300.0002;OMIM:110300.0003;OMIM:110300.0004;OMIM:110300.0005;OMIM:616093;SNOMED CT:63915006 2015-05-18 0 0 9 136131651 G A 136131651 136131651 - Haplotype 17738 RCV000019312 SCV000039601 32777 ABO NM_020469.2:c.467C>T NP_065202.2:p.Pro156Leu NM_020469.2:c.467C>T:missense variant - association 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 18, 2015 OMIM OMIM ABO blood group system;ABO BLOOD GROUP SYSTEM, CIS-AB PHENOTYPE 14170898;6775529;8456556 germline MedGen:C0000778;OMIM:110300.0001;OMIM:110300.0002;OMIM:110300.0003;OMIM:110300.0004;OMIM:110300.0005;OMIM:616093;SNOMED CT:63915006 2015-05-18 0 0 -9 136301982 C G 136301982 136301982 + Haplotype 5813 RCV000006169 SCV000026351 20852 ADAMTS13 NM_139025.4:c.1342C>G NP_620594.1:p.Gln448Glu NM_139025.4:c.1342C>G:missense variant;NR_024514.2:n.993-2504C>G:intron variant Benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Upshaw-Schulman syndrome;THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL 12181489 germline Genetic Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089;Genetics Home Reference:thrombotic-thrombocytopenic-purpura;MedGen:C1268935;OMIM:274150;Office of Rare Diseases:9430;SNOMED CT:373420004 2002-09-03 0 0 -9 136302956 G A 136302956 136302956 + Haplotype 5813 RCV000006169 SCV000026351 38438 ADAMTS13 NM_139025.4:c.1523G>A NP_620594.1:p.Cys508Tyr NM_139025.4:c.1523G>A:missense variant;NR_024514.2:n.993-1530G>A:intron variant not provided pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 03, 2002 OMIM OMIM Upshaw-Schulman syndrome;THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL 12181489 germline Genetic Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089;Genetics Home Reference:thrombotic-thrombocytopenic-purpura;MedGen:C1268935;OMIM:274150;Office of Rare Diseases:9430;SNOMED CT:373420004 2002-09-03 0 0 -9 136501794 G A 136501794 136501794 + Haplotype 1752 RCV000001822 SCV000021978 16791 DBH NM_000787.3:c.301G>A NP_000778.3:p.Val101Met NM_000787.3:c.301G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 29, 2015 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C1857209;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 0 0 -9 136512976 G A 136512976 136512976 + Haplotype 1752 RCV000001822 SCV000021978 38418 DBH NM_000787.3:c.1033G>A NP_000778.3:p.Asp345Asn NM_000787.3:c.1033G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 29, 2015 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C1857209;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 0 0 +9 136301982 C G 136301982 136301982 + Haplotype 5813 RCV000006169 SCV000026351 20852 ADAMTS13 NM_139025.4:c.1342C>G NP_620594.1:p.Gln448Glu NM_139025.4:c.1342C>G:missense variant;NR_024514.2:n.993-2504C>G:intron variant Benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 14, 2016 OMIM OMIM Upshaw-Schulman syndrome;THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL 12181489 germline Genetic Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089;Genetics Home Reference:thrombotic-thrombocytopenic-purpura;MedGen:C1268935;OMIM:274150;Office of Rare Diseases:9430;SNOMED CT:373420004 2002-09-03 2 0 +9 136302956 G A 136302956 136302956 + Haplotype 5813 RCV000006169 SCV000026351 38438 ADAMTS13 NM_139025.4:c.1523G>A NP_620594.1:p.Cys508Tyr NM_139025.4:c.1523G>A:missense variant;NR_024514.2:n.993-1530G>A:intron variant not provided pathogenic 1 0 0 0 0 no assertion provided no assertion criteria provided Sep 03, 2002 OMIM OMIM Upshaw-Schulman syndrome;THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL 12181489 germline Genetic Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089;Genetics Home Reference:thrombotic-thrombocytopenic-purpura;MedGen:C1268935;OMIM:274150;Office of Rare Diseases:9430;SNOMED CT:373420004 2002-09-03 0 0 +9 136501794 G A 136501794 136501794 + Haplotype 1752 RCV000001822 SCV000021978 16791 DBH NM_000787.3:c.301G>A NP_000778.3:p.Val101Met NM_000787.3:c.301G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 29, 2015 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C0342687;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 0 0 +9 136512976 G A 136512976 136512976 + Haplotype 1752 RCV000001822 SCV000021978 38418 DBH NM_000787.3:c.1033G>A NP_000778.3:p.Asp345Asn NM_000787.3:c.1033G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 29, 2015 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C0342687;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 0 0 10 43609944 G C 43609944 43609944 + Haplotype 13906 RCV000014920 SCV000035176 28945 RET NM_020975.4:c.1896G>C NP_066124.1:p.Glu632Asp NM_020975.4:c.1896G>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1994 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 0 0 -10 43609945 C G 43609945 43609945 + Haplotype 13906 RCV000014920 SCV000035176 38399 RET NM_020975.4:c.1897C>G NP_066124.1:p.Leu633Val NM_020975.4:c.1897C>G:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Sep 13, 2016 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 2 0 -10 43609948 T C 43609948 43609948 + Haplotype 13906 RCV000014920 SCV000035176 28956 RET NM_020975.4:c.1900T>C NP_066124.1:p.Cys634Arg NM_020975.4:c.1900T>C:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 29, 2017 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 2 0 -10 43614996 G A 43614996 43614996 + Haplotype 13945 RCV000014972 SCV000035228 28984 RET NM_020975.4:c.2410G>A NP_066124.1:p.Val804Met NM_020975.4:c.2410G>A:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 13, 2017 OMIM OMIM Multiple endocrine neoplasia, type 2b;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 11739416;11788682;19469690;20301434;21863057;23788249;24893135;25356965;27854360;8797874;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958;MeSH:D018814;MedGen:C0025269;OMIM:162300;OMIM:164761.0013;OMIM:164761.0043;Orphanet:653;SNOMED CT:6153000;SNOMED CT:61530001 2002-01-01 0 0 -10 43615632 C G 43615632 43615632 + Haplotype 13945 RCV000014972 SCV000035228 36303 RET NM_020975.4:c.2711C>G NP_066124.1:p.Ser904Cys NM_020975.4:c.2711C>G:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 OMIM OMIM Multiple endocrine neoplasia, type 2b;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 11739416;11788682;19469690;20301434;21863057;23788249;24893135;25356965;27854360;8797874;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958;MeSH:D018814;MedGen:C0025269;OMIM:162300;OMIM:164761.0013;OMIM:164761.0043;Orphanet:653;SNOMED CT:6153000;SNOMED CT:61530001 2002-01-01 0 0 +10 43609945 C G 43609945 43609945 + Haplotype 13906 RCV000014920 SCV000035176 38399 RET NM_020975.4:c.1897C>G NP_066124.1:p.Leu633Val NM_020975.4:c.1897C>G:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 13, 2016 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 0 0 +10 43609948 T C 43609948 43609948 + Haplotype 13906 RCV000014920 SCV000035176 28956 RET NM_020975.4:c.1900T>C NP_066124.1:p.Cys634Arg NM_020975.4:c.1900T>C:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Sep 28, 2017 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 2 0 +10 43614996 G A 43614996 43614996 + Haplotype 13945 RCV000014972 SCV000035228 28984 RET NM_020975.4:c.2410G>A NP_066124.1:p.Val804Met NM_020975.4:c.2410G>A:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 27, 2017 OMIM OMIM Multiple endocrine neoplasia, type 2b;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 11739416;11788682;19469690;20301434;21863057;23788249;24893135;25356965;27854360;8797874;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958;MeSH:D018814;MedGen:C0025269;OMIM:162300;OMIM:164761.0013;OMIM:164761.0043;Orphanet:653;SNOMED CT:6153000;SNOMED CT:61530001 2002-01-01 0 0 +10 43615632 C G 43615632 43615632 + Haplotype 13945 RCV000014972 SCV000035228 36303 RET NM_020975.4:c.2711C>G NP_066124.1:p.Ser904Cys NM_020975.4:c.2711C>G:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Dec 04, 2012 OMIM OMIM Multiple endocrine neoplasia, type 2b;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 11739416;11788682;19469690;20301434;21863057;23788249;24893135;25356965;27854360;8797874;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958;MeSH:D018814;MedGen:C0025269;OMIM:162300;OMIM:164761.0013;OMIM:164761.0043;Orphanet:653;SNOMED CT:6153000;SNOMED CT:61530001 2002-01-01 0 0 10 64573251 C A 64573251 64573251 - Haplotype 16751 RCV000018235 SCV000038514 38481 EGR2 NM_000399.4:c.1147G>T NP_000390.2:p.Asp383Tyr NM_000399.4:c.1147G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 18, 2012 OMIM OMIM Neuropathy, congenital hypomyelinating, autosomal dominant;NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT 9537424 germline MedGen:CN069993 1998-04-01 0 0 10 64573252 A C 64573252 64573252 - Haplotype 16751 RCV000018235 SCV000038514 31790 EGR2 NM_000399.4:c.1146T>G NP_000390.2:p.Ser382Arg NM_000399.4:c.1146T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 18, 2012 OMIM OMIM Neuropathy, congenital hypomyelinating, autosomal dominant;NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT 9537424 germline MedGen:CN069993 1998-04-01 0 0 10 72643759 C T 72643759 72643759 - Haplotype 180130 RCV000156929 SCV000206650 178310 PCBD1 NM_000281.3:c.263G>A NP_000272.1:p.Arg88Gln NM_000281.3:c.263G>A:missense variant;NM_001323004.1:c.216+1150G>A:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 01, 2014 OMIM OMIM Hyperphenylalaninemia, BH4-deficient, D;HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 24848070;9760199 germline Genetic Alliance:Hyperphenylalaninemia+with+primapterinuria/3595;MedGen:C1849700;OMIM:264070;Orphanet:238583 2014-10-01 0 0 @@ -228,45 +252,47 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 10 96073100 T C 96073100 96073100 + Haplotype 266012 RCV000256386 SCV000323171 260792 PLCE1 NM_016341.3:c.6093T>C NP_057425.3:p.Thr2031= NM_016341.3:c.6093T>C:synonymous variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided - Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Nephrotic syndrome, type 3 germline Genetic Alliance:Nephrotic+syndrome%2C+type+3/8988;MedGen:C1853124;OMIM:610725;Orphanet:656 0000-00-00 0 0 10 96084728 G A 96084728 96084728 + Haplotype 266012 RCV000256386 SCV000323171 260793 PLCE1 NM_016341.3:c.6800G>A NP_057425.3:p.Arg2267Gln NM_016341.3:c.6800G>A:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided - Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Nephrotic syndrome, type 3 germline Genetic Alliance:Nephrotic+syndrome%2C+type+3/8988;MedGen:C1853124;OMIM:610725;Orphanet:656 0000-00-00 0 0 10 96702047 C T 96702047 96702047 + Haplotype 177709 RCV000154312 SCV000203973 23448 CYP2C9 NM_000771.3:c.430C>T NP_000762.2:p.Arg144Cys NM_000771.3:c.430C>T:missense variant drug response drug response 0 0 0 0 0 reviewed by expert panel no assertion criteria provided Aug 28, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Warfarin response;Warfarin Metabolism 18281915;18281922;24251364;26186657 germline Genetic Alliance:Warfarin+response/9469;MedGen:CN078029;OMIM:122700;OMIM:122720.0001;OMIM:122720.0005;OMIM:608547.0002;OMIM:608547.0003;OMIM:608547.0004;OMIM:608547.0005;OMIM:608547.0007;PharmGKB:PA451906 2006-11-20 3 0 -10 96741053 A C 96741053 96741053 + Haplotype 163021 RCV000150378 SCV000197513 23447 CYP2C9 NM_000771.3:c.1075A>C NP_000762.2:p.Ile359Leu NM_000771.3:c.1075A>C:missense variant drug response drug response 0 0 0 0 0 reviewed by expert panel no assertion criteria provided Jul 10, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Warfarin response;Warfarin Metabolism 18281915;18281922;24251364;26186657 germline Genetic Alliance:Warfarin+response/9469;MedGen:CN078029;OMIM:122700;OMIM:122720.0001;OMIM:122720.0005;OMIM:608547.0002;OMIM:608547.0003;OMIM:608547.0004;OMIM:608547.0005;OMIM:608547.0007;PharmGKB:PA451906 2006-11-20 3 0 +10 96741053 A C 96741053 96741053 + Haplotype 163021 RCV000150378 SCV000197513 23447 CYP2C9 NM_000771.3:c.1075A>C NP_000762.2:p.Ile359Leu NM_000771.3:c.1075A>C:missense variant drug response drug response 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 10, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Warfarin response;Warfarin Metabolism 18281915;18281922;24251364;26186657 germline Genetic Alliance:Warfarin+response/9469;MedGen:CN078029;OMIM:122700;OMIM:122720.0001;OMIM:122720.0005;OMIM:608547.0002;OMIM:608547.0003;OMIM:608547.0004;OMIM:608547.0005;OMIM:608547.0007;PharmGKB:PA451906 2006-11-20 0 0 10 120790050 G A 120790050 120790050 + Haplotype 65392 RCV000055619 SCV000083844 76326 NANOS1 NM_199461.3:c.737G>A NP_955631.1:p.Arg246His NM_199461.3:c.737G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 2013 OMIM OMIM Spermatogenic failure 12;SPERMATOGENIC FAILURE 12 23315541 germline MedGen:C3809427;OMIM:615413 2013-03-01 0 0 10 120790139 CG TA 120790139 120790140 + Haplotype 65392 RCV000055619 SCV000083844 76327 NANOS1 NM_199461.3:c.826_827delCGinsTA NP_955631.1:p.Arg276Tyr NM_199461.3:c.826_827delCGinsTA:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 2013 OMIM OMIM Spermatogenic failure 12;SPERMATOGENIC FAILURE 12 23315541 germline MedGen:C3809427;OMIM:615413 2013-03-01 0 0 10 135339605 G C 135339605 135339605 + Haplotype 16887 RCV000018383 SCV000038665 136523 CYP2E1 NM_000773.3:c.-1295G>C NM_000773.3:c.-1295G>C:2KB upstream variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 20, 2016 OMIM OMIM CYP2E1*5B ALLELE;CYP2E1*5B ALLELE 10543395;1778977;19444287 germline OMIM:124040.0001 2016-04-20 0 0 10 135339845 C T 135339845 135339845 + Haplotype 16887 RCV000018383 SCV000038665 136524 CYP2E1 NM_000773.3:c.-1055C>T NM_000773.3:c.-1055C>T:2KB upstream variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 20, 2016 OMIM OMIM CYP2E1*5B ALLELE;CYP2E1*5B ALLELE 10543395;1778977;19444287 germline OMIM:124040.0001 2016-04-20 0 0 -11 5246839 T A 5246839 5246839 - Haplotype 15617 RCV000016884 SCV000037154 38409 HBB NM_000518.4:c.433A>T NP_000509.1:p.Lys145Ter NM_000518.4:c.433A>T:nonsense - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 0 0 -11 5246844 G A 5246844 5246844 - Haplotype 15337 RCV000016580 SCV000036849 38472 HBB NM_000518.4:c.428C>T NP_000509.1:p.Ala143Val NM_000518.4:c.428C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1992 OMIM OMIM HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (TRAVIS) 1634360;19257 germline OMIM:141900.0247 1992-01-01 0 0 -11 5246848 G C 5246848 5246848 - Haplotype 15617 RCV000016884 SCV000037154 30656 HBB NM_000518.4:c.424C>G NP_000509.1:p.Leu142Val NM_000518.4:c.424C>G:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 0 0 -11 5246905 A G 5246905 5246905 - Haplotype 15581 RCV000016848 SCV000037118 30619 HBB NM_000518.4:c.367T>C NP_000509.1:p.Phe123Leu NM_000518.4:c.367T>C:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 0 0 -11 5246908 C G 5246908 5246908 - Haplotype 15366;15496;15591 RCV000016617;RCV000016758;RCV000016858 SCV000036886;SCV000037028;SCV000037128 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant Conflicting interpretations of pathogenicity, other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 26, 2017 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN CLEVELAND;HEMOGLOBIN D (AGRI) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136;1787096;11570725 germline OMIM:141900.0276;OMIM:141900.0407;OMIM:141900.0502 2016-07-20 0 1 -11 5246908 C T 5246908 5246908 - Haplotype 15335;15596 RCV000016577;RCV000016863 SCV000036846;SCV000037133 30331 HBB NM_000518.4:c.364G>A NP_000509.1:p.Glu122Lys NM_000518.4:c.364G>A:missense variant Pathogenic, other pathogenic;other 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 26, 2017 OMIM OMIM Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN);HEMOGLOBIN O (TIBESTI) 10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244;11939508 germline MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005;OMIM:141900.0507 1999-04-01;2016-07-20 2 0 -11 5246913 C T 5246913 5246913 - Haplotype 15165;15262 RCV000016336;RCV000016486 SCV000036604;SCV000036754 38469 HBB NM_000518.4:c.359G>A NP_000509.1:p.Gly120Asp NM_000518.4:c.359G>A:missense variant Likely benign other 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 26, 2017 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN MASUDA 20942;7852084;2634673 germline OMIM:141900.0075;OMIM:141900.0172 2017-02-27;2016-07-20 1 0 -11 5246929 G T 5246929 5246929 - Haplotype 15262 RCV000016486 SCV000036754 30525 HBB NM_000518.4:c.343C>A NP_000509.1:p.Leu115Met NM_000518.4:c.343C>A:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN MASUDA;HEMOGLOBIN MASUDA 2634673 germline OMIM:141900.0172 2016-07-20 0 0 -11 5246938 C G 5246938 5246938 - Haplotype 15165 RCV000016336 SCV000036604 30204 HBB NM_000518.4:c.334G>C NP_000509.1:p.Val112Leu NM_000518.4:c.334G>C:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN FANNIN-LUBBOCK 20942;7852084 germline OMIM:141900.0075 2017-02-27 0 0 -11 5247827 C T 5247827 5247827 - Haplotype 15541 RCV000016807 SCV000037077 30280 HBB NM_000518.4:c.295G>A NP_000509.1:p.Val99Met NM_000518.4:c.295G>A:missense variant Pathogenic other 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Apr 24, 2017 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 1 0 -11 5247836 T C 5247836 5247836 - Haplotype 15098 RCV000016251 SCV000036519 30317 HBB NM_000518.4:c.286A>G NP_000509.1:p.Lys96Glu NM_000518.4:c.286A>G:missense variant Likely benign, other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 10, 2017 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 0 0 -11 5247842 A G 5247842 5247842 - Haplotype 15496 RCV000016758 SCV000037028 30336 HBB NM_000518.4:c.280T>C NP_000509.1:p.Cys94Arg NM_000518.4:c.280T>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN CLEVELAND;HEMOGLOBIN CLEVELAND 1177278;1244906;12709369;15108284;16370495;16540414;1787096;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0407 2016-07-20 0 0 -11 5247844 T G 5247844 5247844 - Haplotype 15516 RCV000016780 SCV000037050 30326 HBB NM_000518.4:c.278A>C NP_000509.1:p.His93Pro NM_000518.4:c.278A>C:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN DUINO;HEMOGLOBIN DUINO 1511986 germline OMIM:141900.0427 2016-07-20 0 0 -11 5247851 C T 5247851 5247851 - Haplotype 15610 RCV000016877 SCV000037147 30130 HBB NM_000518.4:c.271G>A NP_000509.1:p.Glu91Lys NM_000518.4:c.271G>A:missense variant other pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN S (CAMEROON);HEMOGLOBIN S (CAMEROON) 15182055 germline OMIM:141900.0521 2004-05-01 0 0 -11 5247863 C G 5247863 5247863 - Haplotype 15313 RCV000016553 SCV000036821 30650 HBB NM_000518.4:c.259G>C NP_000509.1:p.Ala87Pro NM_000518.4:c.259G>C:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 0 0 -11 5247902 C T 5247902 5247902 - Haplotype 15127 RCV000016286 SCV000036554 30283 HBB NM_000518.4:c.220G>A NP_000509.1:p.Asp74Asn NM_000518.4:c.220G>A:missense variant Likely benign, other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 23, 2017 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN) 13943409;5069596;5490239;5928902 germline OMIM:141900.0039;OMIM:141900.0040 2017-02-27 0 0 -11 5247917 G A 5247917 5247917 - Haplotype 15612 RCV000016879 SCV000037149 30652 HBB NM_000518.4:c.205C>T NP_000509.1:p.Leu69Phe NM_000518.4:c.205C>T:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN JAMAICA PLAIN;HEMOGLOBIN JAMAICA PLAIN 15470216;6166632 germline OMIM:141900.0523 2017-02-27 0 0 -11 5247925 T A 5247925 5247925 - Haplotype 15581 RCV000016848 SCV000037118 30250 HBB NM_000518.4:c.197A>T NP_000509.1:p.Lys66Met NM_000518.4:c.197A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 0 0 -11 5247946 G C 5247946 5247946 - Haplotype 15128 RCV000030905 SCV000036556 30437 HBB NM_000518.4:c.176C>G NP_000509.1:p.Pro59Arg NM_000518.4:c.176C>G:missense variant Pathogenic other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (ZIGUINCHOR) 1225575;893143 germline OMIM:141900.0039;OMIM:141900.0040 2016-07-20 0 0 -11 5247953 C G 5247953 5247953 - Haplotype 15313 RCV000016553 SCV000036821 30227 HBB NM_000518.4:c.169G>C NP_000509.1:p.Gly57Arg NM_000518.4:c.169G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 0 0 -11 5247965 C T 5247965 5247965 - Haplotype 15497 RCV000016759 SCV000037029 30341 HBB NM_000518.4:c.157G>A NP_000509.1:p.Asp53Asn NM_000518.4:c.157G>A:missense variant Conflicting interpretations of pathogenicity other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 27, 2017 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 0 1 -11 5247968 G A 5247968 5247968 - Haplotype 15497 RCV000016759 SCV000037029 30536 HBB NM_000518.4:c.154C>T NP_000509.1:p.Pro52Ser NM_000518.4:c.154C>T:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 0 0 -11 5248024 A T 5248024 5248024 - Haplotype 15541 RCV000016807 SCV000037077 30572 HBB NM_000518.4:c.98T>A NP_000509.1:p.Leu33Gln NM_000518.4:c.98T>A:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 0 0 -11 5248173 C T 5248173 5248173 - Haplotype 15366 RCV000016617 SCV000036886 30200 HBB NM_000518.4:c.79G>A NP_000509.1:p.Glu27Lys NM_000518.4:c.79G>A:missense variant Pathogenic, other, protective other 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 16, 2017 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN T (CAMBODIA) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0276 2016-07-20 2 0 -11 5248182 C T 5248182 5248182 - Haplotype 15334 RCV000016576 SCV000036845 38470 HBB NM_000518.4:c.70G>A NP_000509.1:p.Val24Ile NM_000518.4:c.70G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 1997 OMIM OMIM HEMOGLOBIN S (ANTILLES);HEMOGLOBIN S (ANTILLES) 2189492;3467311;9166865 germline OMIM:141900.0244 1997-06-01 0 0 -11 5248218 C T 5248218 5248218 - Haplotype 15596 RCV000016863 SCV000037133 30228 HBB NM_000518.4:c.34G>A NP_000509.1:p.Val12Ile NM_000518.4:c.34G>A:missense variant Uncertain significance, other other 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Nov 12, 2016 OMIM OMIM HEMOGLOBIN O (TIBESTI);HEMOGLOBIN O (TIBESTI) 1112610;11179419;11939508;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline OMIM:141900.0507 2016-07-20 1 0 -11 5248223 G T 5248223 5248223 - Haplotype 15591 RCV000016858 SCV000037128 30658 HBB NM_000518.4:c.29C>A NP_000509.1:p.Ser10Tyr NM_000518.4:c.29C>A:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN D (AGRI);HEMOGLOBIN D (AGRI) 11570725;1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0502 2016-07-20 0 0 -11 5248232 T A 5248232 5248232 - Haplotype 15127;15128;15334;15335;15336;15337;15610;15612 RCV000016286;RCV000030905;RCV000016576;RCV000016577;RCV000016579;RCV000016580;RCV000016877;RCV000016879 SCV000036554;SCV000036556;SCV000036845;SCV000036846;SCV000036848;SCV000036849;SCV000037147;SCV000037149 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic, other, protective other;pathogenic 5 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 26, 2017 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN);HEMOGLOBIN C (ZIGUINCHOR);HEMOGLOBIN S (ANTILLES);Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN);HEMOGLOBIN S (PROVIDENCE);HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (CAMEROON);HEMOGLOBIN JAMAICA PLAIN 13943409;5069596;5490239;5928902;1225575;893143;2189492;3467311;9166865;10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244;3191036;1634360;19257;15182055;15470216;6166632 germline OMIM:141900.0039;OMIM:141900.0040;OMIM:141900.0244;MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005;OMIM:141900.0246;OMIM:141900.0247;OMIM:141900.0521;OMIM:141900.0523 2017-02-27;2016-07-20;1997-06-01;1999-04-01;1988-10-01;1992-01-01;2004-05-01 2 0 -11 5248233 C T 5248233 5248233 - Haplotype 15098 RCV000016251 SCV000036519 30165 HBB NM_000518.4:c.19G>A NP_000509.1:p.Glu7Lys NM_000518.4:c.19G>A:missense variant Pathogenic, protective other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 27, 2017 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 0 0 -11 5269623 G C 5269623 5269623 - Haplotype 15036 RCV000016180 SCV000036448 38468 HBG1 NM_000559.2:c.410C>G NP_000550.2:p.Ala137Gly NM_000559.2:c.410C>G:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 15, 2011 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (CHARLOTTE) 1714434 germline OMIM:142200.0032 2011-07-15 0 0 -11 5269624 C A 5269624 5269624 - Haplotype 15041 RCV000016185 SCV000036453 30080 HBG1 NM_000559.2:c.409G>T NP_000550.2:p.Ala137Ser NM_000559.2:c.409G>T:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 18, 2016 OMIM OMIM HEMOGLOBIN F (PORTO TORRES);HEMOGLOBIN F (PORTO TORRES) 15666429 germline OMIM:142200.0037 2016-08-18 0 0 -11 5270686 G A 5270686 5270686 - Haplotype 15036;15041 RCV000016180;RCV000016185 SCV000036448;SCV000036453 30044 HBG1 NM_000559.2:c.227C>T NP_000550.2:p.Thr76Ile NM_000559.2:c.227C>T:missense variant Benign, other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 18, 2016 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (PORTO TORRES) 1714434;15666429 germline OMIM:142200.0032;OMIM:142200.0037 2011-07-15;2016-08-18 0 0 +11 2593319 G A 2593319 2593319 + Haplotype 444879 RCV000003296 SCV000023454 18157 KCNQ1 NM_000218.2:c.760G>A NP_000209.2:p.Val254Met NM_000218.2:c.760G>A:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 29, 2017 OMIM OMIM Long QT syndrome 1;LONG QT SYNDROME 1 10973849;12820704;14678125;1475667;14756674;20301308;21810866;23788249;25356965;27854360;8528244;9386136 germline GeneReviews:NBK1129;Genetic Alliance:Long+QT+syndrome+1/4297;MedGen:C0035828;OMIM:192500;Office of Rare Diseases:3284;Orphanet:101016;Orphanet:768;SNOMED CT:20852007 2004-03-01 0 0 +11 2608920 G A 2608920 2608920 + Haplotype 444879 RCV000003296 SCV000023454 38428 KCNQ1 NM_181798.1:c.868G>A NP_000209.2:p.Val417Met NM_000218.2:c.1249G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 2004 OMIM OMIM Long QT syndrome 1;LONG QT SYNDROME 1 10973849;12820704;14678125;1475667;14756674;20301308;21810866;23788249;25356965;27854360;8528244;9386136 germline GeneReviews:NBK1129;Genetic Alliance:Long+QT+syndrome+1/4297;MedGen:C0035828;OMIM:192500;Office of Rare Diseases:3284;Orphanet:101016;Orphanet:768;SNOMED CT:20852007 2004-03-01 0 0 +11 5246839 T A 5246839 5246839 - Haplotype 446749 RCV000016884 SCV000037154 38409 HBB NM_000518.4:c.433A>T NP_000509.1:p.Lys145Ter NM_000518.4:c.433A>T:nonsense - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 0 0 +11 5246844 G A 5246844 5246844 - Haplotype 446738 RCV000016580 SCV000036849 38472 HBB NM_000518.4:c.428C>T NP_000509.1:p.Ala143Val NM_000518.4:c.428C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1992 OMIM OMIM HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (TRAVIS) 1634360;19257 germline OMIM:141900.0247 1992-01-01 0 0 +11 5246848 G C 5246848 5246848 - Haplotype 446749 RCV000016884 SCV000037154 30656 HBB NM_000518.4:c.424C>G NP_000509.1:p.Leu142Val NM_000518.4:c.424C>G:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 0 0 +11 5246905 A G 5246905 5246905 - Haplotype 446744 RCV000016848 SCV000037118 30619 HBB NM_000518.4:c.367T>C NP_000509.1:p.Phe123Leu NM_000518.4:c.367T>C:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 0 0 +11 5246908 C G 5246908 5246908 - Haplotype 446739;446740;446745 RCV000016617;RCV000016758;RCV000016858 SCV000036886;SCV000037028;SCV000037128 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant Conflicting interpretations of pathogenicity, other other 0 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jun 26, 2017 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN CLEVELAND;HEMOGLOBIN D (AGRI) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136;1787096;11570725 germline OMIM:141900.0276;OMIM:141900.0407;OMIM:141900.0502 2016-07-20 1 1 +11 5246908 C T 5246908 5246908 - Haplotype 446736;446746 RCV000016577;RCV000016863 SCV000036846;SCV000037133 30331 HBB NM_000518.4:c.364G>A NP_000509.1:p.Glu122Lys NM_000518.4:c.364G>A:missense variant Pathogenic, other pathogenic;other 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 26, 2017 OMIM OMIM Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN);HEMOGLOBIN O (TIBESTI) 10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244;11939508 germline MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005;OMIM:141900.0507 1999-04-01;2016-07-20 0 0 +11 5246913 C T 5246913 5246913 - Haplotype 446732;446733 RCV000016336;RCV000016486 SCV000036604;SCV000036754 38469 HBB NM_000518.4:c.359G>A NP_000509.1:p.Gly120Asp NM_000518.4:c.359G>A:missense variant Likely benign other 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 26, 2017 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN MASUDA 20942;7852084;2634673 germline OMIM:141900.0075;OMIM:141900.0172 2017-02-27;2016-07-20 1 0 +11 5246929 G T 5246929 5246929 - Haplotype 446733 RCV000016486 SCV000036754 30525 HBB NM_000518.4:c.343C>A NP_000509.1:p.Leu115Met NM_000518.4:c.343C>A:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN MASUDA;HEMOGLOBIN MASUDA 2634673 germline OMIM:141900.0172 2016-07-20 0 0 +11 5246938 C G 5246938 5246938 - Haplotype 446732 RCV000016336 SCV000036604 30204 HBB NM_000518.4:c.334G>C NP_000509.1:p.Val112Leu NM_000518.4:c.334G>C:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN FANNIN-LUBBOCK 20942;7852084 germline OMIM:141900.0075 2017-02-27 0 0 +11 5247827 C T 5247827 5247827 - Haplotype 446743 RCV000016807 SCV000037077 30280 HBB NM_000518.4:c.295G>A NP_000509.1:p.Val99Met NM_000518.4:c.295G>A:missense variant Pathogenic other 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Apr 24, 2017 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 1 0 +11 5247836 T C 5247836 5247836 - Haplotype 446729 RCV000016251 SCV000036519 30317 HBB NM_000518.4:c.286A>G NP_000509.1:p.Lys96Glu NM_000518.4:c.286A>G:missense variant Likely benign, other other 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 10, 2017 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 2 0 +11 5247842 A G 5247842 5247842 - Haplotype 446740 RCV000016758 SCV000037028 30336 HBB NM_000518.4:c.280T>C NP_000509.1:p.Cys94Arg NM_000518.4:c.280T>C:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN CLEVELAND;HEMOGLOBIN CLEVELAND 1177278;1244906;12709369;15108284;16370495;16540414;1787096;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0407 2016-07-20 0 0 +11 5247844 T G 5247844 5247844 - Haplotype 446742 RCV000016780 SCV000037050 30326 HBB NM_000518.4:c.278A>C NP_000509.1:p.His93Pro NM_000518.4:c.278A>C:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN DUINO;HEMOGLOBIN DUINO 1511986 germline OMIM:141900.0427 2016-07-20 0 0 +11 5247851 C T 5247851 5247851 - Haplotype 446747 RCV000016877 SCV000037147 30130 HBB NM_000518.4:c.271G>A NP_000509.1:p.Glu91Lys NM_000518.4:c.271G>A:missense variant other pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN S (CAMEROON);HEMOGLOBIN S (CAMEROON) 15182055 germline OMIM:141900.0521 2004-05-01 0 0 +11 5247863 C G 5247863 5247863 - Haplotype 446734 RCV000016553 SCV000036821 30650 HBB NM_000518.4:c.259G>C NP_000509.1:p.Ala87Pro NM_000518.4:c.259G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 0 0 +11 5247902 C T 5247902 5247902 - Haplotype 446730 RCV000016286 SCV000036554 30283 HBB NM_000518.4:c.220G>A NP_000509.1:p.Asp74Asn NM_000518.4:c.220G>A:missense variant Likely benign, other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 23, 2017 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN) 13943409;5069596;5490239;5928902 germline OMIM:141900.0039;OMIM:141900.0040 2017-02-27 0 0 +11 5247917 G A 5247917 5247917 - Haplotype 446748 RCV000016879 SCV000037149 30652 HBB NM_000518.4:c.205C>T NP_000509.1:p.Leu69Phe NM_000518.4:c.205C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN JAMAICA PLAIN;HEMOGLOBIN JAMAICA PLAIN 15470216;6166632 germline OMIM:141900.0523 2017-02-27 0 0 +11 5247925 T A 5247925 5247925 - Haplotype 446744 RCV000016848 SCV000037118 30250 HBB NM_000518.4:c.197A>T NP_000509.1:p.Lys66Met NM_000518.4:c.197A>T:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 0 0 +11 5247946 G C 5247946 5247946 - Haplotype 446731 RCV000030905 SCV000036556 30437 HBB NM_000518.4:c.176C>G NP_000509.1:p.Pro59Arg NM_000518.4:c.176C>G:missense variant Pathogenic other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (ZIGUINCHOR) 1225575;893143 germline OMIM:141900.0039;OMIM:141900.0040 2016-07-20 0 0 +11 5247953 C G 5247953 5247953 - Haplotype 446734 RCV000016553 SCV000036821 30227 HBB NM_000518.4:c.169G>C NP_000509.1:p.Gly57Arg NM_000518.4:c.169G>C:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 0 0 +11 5247965 C T 5247965 5247965 - Haplotype 446741 RCV000016759 SCV000037029 30341 HBB NM_000518.4:c.157G>A NP_000509.1:p.Asp53Asn NM_000518.4:c.157G>A:missense variant Conflicting interpretations of pathogenicity other 0 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jun 27, 2017 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 1 1 +11 5247968 G A 5247968 5247968 - Haplotype 446741 RCV000016759 SCV000037029 30536 HBB NM_000518.4:c.154C>T NP_000509.1:p.Pro52Ser NM_000518.4:c.154C>T:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 0 0 +11 5248024 A T 5248024 5248024 - Haplotype 446743 RCV000016807 SCV000037077 30572 HBB NM_000518.4:c.98T>A NP_000509.1:p.Leu33Gln NM_000518.4:c.98T>A:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 0 0 +11 5248173 C T 5248173 5248173 - Haplotype 446739 RCV000016617 SCV000036886 30200 HBB NM_000518.4:c.79G>A NP_000509.1:p.Glu27Lys NM_000518.4:c.79G>A:missense variant Pathogenic, other, protective other 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Aug 23, 2017 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN T (CAMBODIA) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0276 2016-07-20 2 0 +11 5248182 C T 5248182 5248182 - Haplotype 446735 RCV000016576 SCV000036845 38470 HBB NM_000518.4:c.70G>A NP_000509.1:p.Val24Ile NM_000518.4:c.70G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 1997 OMIM OMIM HEMOGLOBIN S (ANTILLES);HEMOGLOBIN S (ANTILLES) 2189492;3467311;9166865 germline OMIM:141900.0244 1997-06-01 0 0 +11 5248218 C T 5248218 5248218 - Haplotype 446746 RCV000016863 SCV000037133 30228 HBB NM_000518.4:c.34G>A NP_000509.1:p.Val12Ile NM_000518.4:c.34G>A:missense variant Uncertain significance, other other 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Nov 12, 2016 OMIM OMIM HEMOGLOBIN O (TIBESTI);HEMOGLOBIN O (TIBESTI) 1112610;11179419;11939508;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline OMIM:141900.0507 2016-07-20 1 0 +11 5248223 G T 5248223 5248223 - Haplotype 446745 RCV000016858 SCV000037128 30658 HBB NM_000518.4:c.29C>A NP_000509.1:p.Ser10Tyr NM_000518.4:c.29C>A:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN D (AGRI);HEMOGLOBIN D (AGRI) 11570725;1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0502 2016-07-20 0 0 +11 5248232 T A 5248232 5248232 - Haplotype 446730;446731;446735;446736;446737;446738;446747;446748 RCV000016286;RCV000030905;RCV000016576;RCV000016577;RCV000016579;RCV000016580;RCV000016877;RCV000016879 SCV000036554;SCV000036556;SCV000036845;SCV000036846;SCV000036848;SCV000036849;SCV000037147;SCV000037149 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic, other, protective other;pathogenic 5 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Dec 11, 2017 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN);HEMOGLOBIN C (ZIGUINCHOR);HEMOGLOBIN S (ANTILLES);Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN);HEMOGLOBIN S (PROVIDENCE);HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (CAMEROON);HEMOGLOBIN JAMAICA PLAIN 13943409;5069596;5490239;5928902;1225575;893143;2189492;3467311;9166865;10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244;3191036;1634360;19257;15182055;15470216;6166632 germline OMIM:141900.0039;OMIM:141900.0040;OMIM:141900.0244;MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005;OMIM:141900.0246;OMIM:141900.0247;OMIM:141900.0521;OMIM:141900.0523 2017-02-27;2016-07-20;1997-06-01;1999-04-01;1988-10-01;1992-01-01;2004-05-01 2 0 +11 5248233 C T 5248233 5248233 - Haplotype 446729 RCV000016251 SCV000036519 30165 HBB NM_000518.4:c.19G>A NP_000509.1:p.Glu7Lys NM_000518.4:c.19G>A:missense variant Pathogenic, protective other 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 27, 2017 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 2 0 +11 5269623 G C 5269623 5269623 - Haplotype 446751 RCV000016180 SCV000036448 38468 HBG1 NM_000559.2:c.410C>G NP_000550.2:p.Ala137Gly NM_000559.2:c.410C>G:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 15, 2011 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (CHARLOTTE) 1714434 germline OMIM:142200.0032 2011-07-15 0 0 +11 5269624 C A 5269624 5269624 - Haplotype 446752 RCV000016185 SCV000036453 30080 HBG1 NM_000559.2:c.409G>T NP_000550.2:p.Ala137Ser NM_000559.2:c.409G>T:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 18, 2016 OMIM OMIM HEMOGLOBIN F (PORTO TORRES);HEMOGLOBIN F (PORTO TORRES) 15666429 germline OMIM:142200.0037 2016-08-18 0 0 +11 5270686 G A 5270686 5270686 - Haplotype 446751;446752 RCV000016180;RCV000016185 SCV000036448;SCV000036453 30044 HBG1 NM_000559.2:c.227C>T NP_000550.2:p.Thr76Ile NM_000559.2:c.227C>T:missense variant Benign, other other 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Aug 18, 2016 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (PORTO TORRES) 1714434;15666429 germline OMIM:142200.0032;OMIM:142200.0037 2011-07-15;2016-08-18 1 0 11 36596373 C T 36596373 36596373 + Haplotype 13157 RCV000014043 SCV000034290 28196 RAG1 NM_000448.2:c.1519C>T NP_000439.1:p.Arg507Trp NM_000448.2:c.1519C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 08, 2008 OMIM OMIM Combined cellular and humoral immune defects with granulomas;COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS 18463379 germline Genetic Alliance:Combined+cellular+and+humoral+immune+defects+with+granulomas/8008;MedGen:C2673536;OMIM:233650 2008-05-08 0 0 -11 36597064 G A 36597064 36597064 + Haplotype 13157 RCV000014043 SCV000034290 28188 RAG1 NM_000448.2:c.2210G>A NP_000439.1:p.Arg737His NM_000448.2:c.2210G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 08, 2008 OMIM OMIM Combined cellular and humoral immune defects with granulomas;COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS 18463379 germline Genetic Alliance:Combined+cellular+and+humoral+immune+defects+with+granulomas/8008;MedGen:C2673536;OMIM:233650 2008-05-08 0 0 +11 36597064 G A 36597064 36597064 + Haplotype 13157 RCV000014043 SCV000034290 28188 RAG1 NM_000448.2:c.2210G>A NP_000439.1:p.Arg737His NM_000448.2:c.2210G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided May 08, 2008 OMIM OMIM Combined cellular and humoral immune defects with granulomas;COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS 18463379 germline Genetic Alliance:Combined+cellular+and+humoral+immune+defects+with+granulomas/8008;MedGen:C2673536;OMIM:233650 2008-05-08 0 0 11 44129522 T G 44129522 44129522 + Haplotype 218894 RCV000203245 SCV000258309 137950 EXT2 NM_000401.3:c.359T>G NP_997005.1:p.Met87Arg NM_207122.1:c.260T>G:missense variant Likely benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Seizures, scoliosis, and macrocephaly syndrome;SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME (1 family) 26246518 germline MedGen:C4225248;OMIM:616682 2015-10-01 0 0 11 44129545 C T 44129545 44129545 + Haplotype 218894 RCV000203245 SCV000258309 215653 EXT2 NM_000401.3:c.382C>T NP_997005.1:p.Arg95Cys NM_207122.1:c.283C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 01, 2015 OMIM OMIM Seizures, scoliosis, and macrocephaly syndrome;SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME (1 family) 26246518 germline MedGen:C4225248;OMIM:616682 2015-10-01 0 0 11 66113551 G A 66113551 66113551 - Haplotype 51008 RCV000043695 SCV000071708 65678 B4GAT1 NM_006876.2:c.1217C>T NP_006867.1:p.Ala406Val NM_006876.2:c.1217C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 2013 OMIM OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 23359570 germline MedGen:C3809042;OMIM:615287;Orphanet:899 2013-05-01 0 0 @@ -274,13 +300,14 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 11 71936057 C CG 71936063 71936063 + Haplotype 235823 RCV000224773 SCV000281677 237478 INPPL1 NM_001567.3:c.35dupG NP_001558.3:p.Ala13Argfs NM_001567.3:c.35dupG:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 08, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 unknown Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 0 0 11 71940602 G C 71940602 71940602 + Haplotype 235822 RCV000224420 SCV000281676 237479 INPPL1 NM_001567.3:c.753G>C NP_001558.3:p.Gln251His NM_001567.3:c.753G>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 08, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 0 0 11 71940720 CAG C 71940721 71940722 + Haplotype 235825 RCV000224914 SCV000281680 237480 INPPL1 NM_001567.3:c.768_769delAG NP_001558.3:p.Glu258Alafs NM_001567.3:c.768_769delAG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 08, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 0 0 +11 71943304 G A 71943304 71943304 Distinct chromosomes 488055 RCV000577875 SCV000583573 481067 SH3PXD2B NM_001567.3:c.1636G>A NP_001558.3:p.Val546Ile NM_001567.3:c.1636G>A:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Jun 01, 2017 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Frank Ter Haar syndrome;Opsismodysplasia 1;20137777;29276006 unknown Genetic Alliance:Frank+Ter+Haar+Syndrome/2915;Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;MedGen:C1855305;OMIM:249420;OMIM:258480;Office of Rare Diseases:4098;Office of Rare Diseases:5138;Orphanet:137834;Orphanet:2746;SNOMED CT:254068007 2017-06-01 0 0 11 71943347 GTCACC G 71943355 71943359 + Haplotype 235823 RCV000224773 SCV000281677 237481 INPPL1 NM_001567.3:c.1687_1691delACCTC NP_001558.3:p.Thr563Glyfs NM_001567.3:c.1687_1691delACCTC:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 08, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 unknown Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 0 0 11 71945660 G A 71945660 71945660 + Haplotype 235825 RCV000224914 SCV000281680 48075 INPPL1 NM_001567.3:c.2415+1G>A NM_001567.3:c.2415+1G>A:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 0 0 11 121037361 C T 121037361 121037361 + Haplotype 7013 RCV000007428 SCV000027628 22052 TECTA NM_005422.2:c.5458C>T NP_005413.2:p.Leu1820Phe NM_005422.2:c.5458C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 1998 OMIM OMIM Deafness, autosomal dominant 12;DEAFNESS, AUTOSOMAL DOMINANT 12 20301607;9590290 germline Genetic Alliance:Deafness%2C+autosomal+dominant+12/8133;MedGen:C1832187;OMIM:601543;Orphanet:90635 1998-05-01 0 0 11 121037374 G A 121037374 121037374 + Haplotype 7013 RCV000007428 SCV000027628 38440 TECTA NM_005422.2:c.5471G>A NP_005413.2:p.Gly1824Asp NM_005422.2:c.5471G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 1998 OMIM OMIM Deafness, autosomal dominant 12;DEAFNESS, AUTOSOMAL DOMINANT 12 20301607;9590290 germline Genetic Alliance:Deafness%2C+autosomal+dominant+12/8133;MedGen:C1832187;OMIM:601543;Orphanet:90635 1998-05-01 0 0 -12 57894189 G A 57894189 57894189 + Haplotype 189364 RCV000169765;RCV000173000 SCV000196708;SCV000224019 187252 MARS NM_004990.3:c.1177G>A NP_004981.2:p.Ala393Thr NM_004990.3:c.1177G>A:missense variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 07, 2015 Institute of Human Genetics, Klinikum rechts der Isar;OMIM Institute of Human Genetics, Klinikum rechts der Isar;OMIM Pulmonary alveolar proteinosis;Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C0034050;SNOMED CT:10501004;MedGen:C3809651;OMIM:615486 2014-12-02;2015-05-07 0 0 -12 57906083 C T 57906083 57906083 + Haplotype 189364 RCV000169765;RCV000173000 SCV000196708;SCV000224019 187253 MARS NM_004990.3:c.1700C>T NP_004981.2:p.Ser567Leu NM_004990.3:c.1700C>T:missense variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 07, 2015 Institute of Human Genetics, Klinikum rechts der Isar;OMIM Institute of Human Genetics, Klinikum rechts der Isar;OMIM Pulmonary alveolar proteinosis;Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C0034050;SNOMED CT:10501004;MedGen:C3809651;OMIM:615486 2014-12-02;2015-05-07 0 0 -12 80752660 A G 80752660 80752660 + Haplotype 229122 RCV000217831 SCV000272283 230419 OTOGL NM_173591.3:c.6220A>G NP_775862.3:p.Ile2074Val NM_173591.3:c.6220A>G:missense variant Benign uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Dec 01, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-01 0 0 +12 57894189 G A 57894189 57894189 + Haplotype 189364 RCV000169765;RCV000173000 SCV000196708;SCV000224019 187252 MARS NM_004990.3:c.1177G>A NP_004981.2:p.Ala393Thr NM_004990.3:c.1177G>A:missense variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 07, 2015 Institute of Human Genetics, Klinikum rechts der Isar;OMIM Institute of Human Genetics, Klinikum rechts der Isar;OMIM Pulmonary alveolar proteinosis;Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C0034050;SNOMED CT:10501004;MedGen:C4225400;OMIM:615486 2014-12-02;2015-05-07 0 0 +12 57906083 C T 57906083 57906083 + Haplotype 189364 RCV000169765;RCV000173000 SCV000196708;SCV000224019 187253 MARS NM_004990.3:c.1700C>T NP_004981.2:p.Ser567Leu NM_004990.3:c.1700C>T:missense variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 07, 2015 Institute of Human Genetics, Klinikum rechts der Isar;OMIM Institute of Human Genetics, Klinikum rechts der Isar;OMIM Pulmonary alveolar proteinosis;Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C0034050;SNOMED CT:10501004;MedGen:C4225400;OMIM:615486 2014-12-02;2015-05-07 0 0 +12 80752660 A G 80752660 80752660 + Haplotype 229122 RCV000217831 SCV000272283 230419 OTOGL NM_173591.3:c.6220A>G NP_775862.3:p.Ile2074Val NM_173591.3:c.6220A>G:missense variant Benign uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 01, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-01 1 0 12 80752661 T C 80752661 80752661 + Haplotype 229122 RCV000217831 SCV000272283 230420 OTOGL NM_173591.3:c.6221T>C NP_775862.3:p.Ile2074Thr NM_173591.3:c.6221T>C:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Dec 01, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-01 0 0 12 102151032 G A 102151032 102151032 - Haplotype 39094 RCV000032361 SCV000056008 47698 GNPTAB NM_024312.4:c.3392C>T NP_077288.2:p.Ser1131Phe NM_024312.4:c.3392C>T:missense variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 10, 2012 GeneReviews GeneReviews I cell disease;Mucolipidosis II 20301728 not provided GeneReviews:NBK1828;Genetic Alliance:Mucolipidosis+II/3706;Genetics Home Reference:mucolipidosis-ii-alpha-beta;MedGen:C2673377;OMIM:252500;Office of Rare Diseases:6749;Orphanet:576 2012-05-10 0 0 12 102151034 A AG 102151035 102151036 - Haplotype 39094 RCV000032361 SCV000056008 47699 GNPTAB NM_024312.4:c.3388_3389insC NP_077288.2:p.Val1130Alafs NM_024312.4:c.3388_3389insC:frameshift variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 10, 2012 GeneReviews GeneReviews I cell disease;Mucolipidosis II 20301728 not provided GeneReviews:NBK1828;Genetic Alliance:Mucolipidosis+II/3706;Genetics Home Reference:mucolipidosis-ii-alpha-beta;MedGen:C2673377;OMIM:252500;Office of Rare Diseases:6749;Orphanet:576 2012-05-10 0 0 @@ -288,42 +315,54 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 12 102155474 T C 102155474 102155474 - Haplotype 39093 RCV000032360 SCV000056007 47697 GNPTAB NM_024312.4:c.2783A>G NP_077288.2:p.Lys928Arg NM_024312.4:c.2783A>G:missense variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 10, 2012 GeneReviews GeneReviews I cell disease;Mucolipidosis II 20301728 not provided GeneReviews:NBK1828;Genetic Alliance:Mucolipidosis+II/3706;Genetics Home Reference:mucolipidosis-ii-alpha-beta;MedGen:C2673377;OMIM:252500;Office of Rare Diseases:6749;Orphanet:576 2012-05-10 0 0 12 102174357 T G 102174357 102174357 - Haplotype 39095 RCV000032362 SCV000056009 47700 GNPTAB NM_024312.4:c.614A>C NP_077288.2:p.Gln205Pro NM_024312.4:c.614A>C:missense variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 10, 2012 GeneReviews GeneReviews I cell disease;Mucolipidosis II 20301728 not provided GeneReviews:NBK1828;Genetic Alliance:Mucolipidosis+II/3706;Genetics Home Reference:mucolipidosis-ii-alpha-beta;MedGen:C2673377;OMIM:252500;Office of Rare Diseases:6749;Orphanet:576 2012-05-10 0 0 12 102179816 A T 102179816 102179816 - Haplotype 39095 RCV000032362 SCV000056009 47701 GNPTAB NM_024312.4:c.545T>A NP_077288.2:p.Val182Asp NM_024312.4:c.545T>A:missense variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 10, 2012 GeneReviews GeneReviews I cell disease;Mucolipidosis II 20301728 not provided GeneReviews:NBK1828;Genetic Alliance:Mucolipidosis+II/3706;Genetics Home Reference:mucolipidosis-ii-alpha-beta;MedGen:C2673377;OMIM:252500;Office of Rare Diseases:6749;Orphanet:576 2012-05-10 0 0 -12 103246681 G A 103246681 103246681 - Haplotype 217885 RCV000201954 SCV000256881 15623 PAH NM_000277.2:c.754C>T NP_000268.1:p.Arg252Trp NM_000277.2:c.754C>T:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 26, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Phenylketonuria 20301677;21915151;24385074;24667081;2574153;9429153 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2014-08-07 0 0 +12 103246681 G A 103246681 103246681 - Haplotype 217885 RCV000201954 SCV000256881 15623 PAH NM_000277.2:c.754C>T NP_000268.1:p.Arg252Trp NM_000277.2:c.754C>T:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Aug 07, 2017 Mendelics Analise Genomica Mendelics Analise Genomica Phenylketonuria 20301677;21915151;24385074;24667081;2574153;9429153 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2014-08-07 2 0 12 103246700 C T 103246700 103246700 - Haplotype 402236 RCV000454199 SCV000538053 98655 PAH NM_000277.2:c.735G>A NP_000268.1:p.Val245= NM_000277.2:c.735G>A:synonymous variant Benign likely pathogenic 0 1 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 Knight Diagnostic Laboratories,Oregon Health and Sciences University Knight Diagnostic Laboratories,Oregon Health and Sciences University Phenylketonuria 20301677;21915151;24385074;24667081;25741868 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2015-08-13 2 0 12 103246712 GC G 103246713 103246713 - Haplotype 402236 RCV000454199 SCV000538053 108542 PAH NM_000277.2:c.722delG NP_000268.1:p.Arg241Profs NM_000277.2:c.722delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Aug 13, 2015 Knight Diagnostic Laboratories,Oregon Health and Sciences University Knight Diagnostic Laboratories,Oregon Health and Sciences University Phenylketonuria 20301677;21915151;24385074;24667081;25741868 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2015-08-13 0 0 12 103271835 C A 103271835 103271835 - Haplotype 217885 RCV000201954 SCV000256881 214540 PAH NM_000277.2:c.353-507G>T NM_000277.2:c.353-507G>T:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 07, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Phenylketonuria 20301677;21915151;24385074;24667081;2574153;9429153 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2014-08-07 0 0 -13 20763313 G T 20763313 20763313 - Haplotype 267367 RCV000258130 SCV000328260;SCV000599732 186856 GJB2 NM_004004.5:c.408C>A NP_003995.2:p.Tyr136Ter NM_004004.5:c.408C>A:nonsense Likely pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter May 09, 2017 OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A;Deafness, autosomal recessive 1A 1;12560944;15633193;20301449;20301607;20497192;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2010-11-01;2017-05-09 0 0 +12 110221556 A T 110221556 110221556 - Haplotype 378057 RCV000435546 SCV000513422 472257 TRPV4 NM_021625.4:c.2486T>A NP_067638.3:p.Val829Glu NM_021625.4:c.2486T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 03, 2017 OMIM OMIM Avascular necrosis of femoral head, primary, 2;AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 (1 family) 27330106 germline MedGen:CN240839;OMIM:617383 2017-03-03 0 0 +12 110221557 CGCGG C 110221558 110221561 - Haplotype 378057 RCV000435546 SCV000513422 380146 TRPV4 NM_021625.4:c.2481_2484delCCGC NP_067638.3:p.Arg828Trpfs NM_021625.4:c.2481_2484delCCGC:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 03, 2017 OMIM OMIM Avascular necrosis of femoral head, primary, 2;AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 (1 family) 27330106 germline MedGen:CN240839;OMIM:617383 2017-03-03 0 0 +13 20763313 G T 20763313 20763313 - Haplotype 267367;446728 RCV000258130;RCV000516165 SCV000599732;SCV000328260 186856 GJB2 NM_004004.5:c.408C>A NP_003995.2:p.Tyr136Ter NM_004004.5:c.408C>A:nonsense Likely pathogenic pathogenic 2 0 0 0 0 no assertion for the individual variant criteria provided, single submitter;no assertion criteria provided May 09, 2017 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;OMIM Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;OMIM Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A 1;20301449;20301607;20497192;12560944;15633193;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2017-05-09;2010-11-01 0 0 13 20763380 T C 20763380 20763380 - Haplotype 177819 RCV000154452 SCV000204121 53906 GJB2 NM_004004.5:c.341A>G NP_003995.2:p.Glu114Gly NM_004004.5:c.341A>G:missense variant Conflicting interpretations of pathogenicity likely benign 0 0 0 1 0 criteria provided, conflicting interpretations criteria provided, single submitter May 09, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 10607953;10983956;12746422;15070423;17041943;17666888;20083784;20201936;20668687;21298213;23826813;24033266;9529365 germline MedGen:CN169374 2015-07-28 1 1 -13 20763587 C T 20763587 20763587 - Haplotype 267367 RCV000258130 SCV000328260;SCV000599732 32072 GJB2 NM_004004.5:c.134G>A NP_003995.2:p.Gly45Glu NM_004004.5:c.134G>A:missense variant Pathogenic/Likely pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter May 09, 2017 OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A;Deafness, autosomal recessive 1A 1;12560944;15633193;20301449;20301607;20497192;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2010-11-01;2017-05-09 0 0 +13 20763587 C T 20763587 20763587 - Haplotype 267367;446728 RCV000258130;RCV000516165 SCV000599732;SCV000328260 32072 GJB2 NM_004004.5:c.134G>A NP_003995.2:p.Gly45Glu NM_004004.5:c.134G>A:missense variant Pathogenic/Likely pathogenic pathogenic 2 0 0 0 0 criteria provided, single submitter criteria provided, single submitter;no assertion criteria provided May 09, 2017 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;OMIM Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;OMIM Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A 1;20301449;20301607;20497192;12560944;15633193;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2017-05-09;2010-11-01 1 0 13 20763642 C T 20763642 20763642 - Haplotype 177819 RCV000154452 SCV000204121 44943 GJB2 NM_004004.5:c.79G>A NP_003995.2:p.Val27Ile NM_004004.5:c.79G>A:missense variant Conflicting interpretations of pathogenicity likely benign 0 0 0 1 0 no assertion for the individual variant criteria provided, single submitter May 09, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 10607953;10983956;12746422;15070423;17041943;17666888;20083784;20201936;20668687;21298213;23826813;24033266;9529365 germline MedGen:CN169374 2015-07-28 0 1 +13 23929111 G A 23929111 23929111 - Haplotype 424657 RCV000515975 SCV000574461 327819 SACS NM_014363.5:c.1640C>T NP_055178.3:p.Pro547Leu NM_014363.5:c.1640C>T:missense variant Uncertain significance likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Mar 07, 2017 Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Hereditary spastic paraplegia 20301682;28832565 loss of function inherited GeneReviews:NBK1509;Genetic Alliance:Hereditary+spastic+paraplegia/3383;Genetic Testing Registry (GTR):GTR000500041;Genetic Testing Registry (GTR):GTR000500218;Genetic Testing Registry (GTR):GTR000500428;Genetic Testing Registry (GTR):GTR000508756;Genetic Testing Registry (GTR):GTR000525862;Genetic Testing Registry (GTR):GTR000525863;Genetic Testing Registry (GTR):GTR000528277;Genetic Testing Registry (GTR):GTR000529007;MedGen:C0037773;OMIM:PS303350;Office of Rare Diseases:6637;Orphanet:ORPHA685;SNOMED CT:39912006 2017-03-07 1 0 +13 23929117 C A 23929117 23929117 - Haplotype 424657 RCV000515975 SCV000574461 411584 SACS NM_014363.5:c.1634G>T NP_055178.3:p.Trp545Leu NM_014363.5:c.1634G>T:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Mar 07, 2017 Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Hereditary spastic paraplegia 20301682;28832565 loss of function inherited GeneReviews:NBK1509;Genetic Alliance:Hereditary+spastic+paraplegia/3383;Genetic Testing Registry (GTR):GTR000500041;Genetic Testing Registry (GTR):GTR000500218;Genetic Testing Registry (GTR):GTR000500428;Genetic Testing Registry (GTR):GTR000508756;Genetic Testing Registry (GTR):GTR000525862;Genetic Testing Registry (GTR):GTR000525863;Genetic Testing Registry (GTR):GTR000528277;Genetic Testing Registry (GTR):GTR000529007;MedGen:C0037773;OMIM:PS303350;Office of Rare Diseases:6637;Orphanet:ORPHA685;SNOMED CT:39912006 2017-03-07 0 0 13 52515247 C T 52515247 52515247 - Haplotype 3863 RCV000004067 SCV000024233 38430 ATP7B NM_000053.3:c.3526G>A NP_000044.2:p.Gly1176Arg NM_000053.3:c.3526G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 2005 OMIM OMIM Wilson disease;WILSON DISEASE 15845031;18506894;20301685;20482602;27854360 loss of function germline GeneReviews:NBK1512;Genetic Alliance:Wilson+disease/7506;Genetic Testing Registry (GTR):GTR000260623;Genetic Testing Registry (GTR):GTR000501125;Genetic Testing Registry (GTR):GTR000503091;Genetic Testing Registry (GTR):GTR000507952;Genetic Testing Registry (GTR):GTR000508735;Genetic Testing Registry (GTR):GTR000509712;Genetic Testing Registry (GTR):GTR000515523;Genetic Testing Registry (GTR):GTR000520457;Genetic Testing Registry (GTR):GTR000521900;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528632;Genetic Testing Registry (GTR):GTR000528928;Genetic Testing Registry (GTR):GTR000530035;Genetic Testing Registry (GTR):GTR000530097;Genetic Testing Registry (GTR):GTR000552345;Genetic Testing Registry (GTR):GTR000553937;Genetics Home Reference:wilson-disease;MedGen:C0019202;OMIM:277900;Office of Rare Diseases:7893;Orphanet:905;SNOMED CT:88518009 2005-05-01 0 0 13 52515330 A G 52515330 52515330 - Haplotype 3863 RCV000004067 SCV000024233 18902 ATP7B NM_000053.3:c.3443T>C NP_000044.2:p.Ile1148Thr NM_000053.3:c.3443T>C:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Sep 10, 2014 OMIM OMIM Wilson disease;WILSON DISEASE 15845031;18506894;20301685;20482602;27854360 loss of function germline GeneReviews:NBK1512;Genetic Alliance:Wilson+disease/7506;Genetic Testing Registry (GTR):GTR000260623;Genetic Testing Registry (GTR):GTR000501125;Genetic Testing Registry (GTR):GTR000503091;Genetic Testing Registry (GTR):GTR000507952;Genetic Testing Registry (GTR):GTR000508735;Genetic Testing Registry (GTR):GTR000509712;Genetic Testing Registry (GTR):GTR000515523;Genetic Testing Registry (GTR):GTR000520457;Genetic Testing Registry (GTR):GTR000521900;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528632;Genetic Testing Registry (GTR):GTR000528928;Genetic Testing Registry (GTR):GTR000530035;Genetic Testing Registry (GTR):GTR000530097;Genetic Testing Registry (GTR):GTR000552345;Genetic Testing Registry (GTR):GTR000553937;Genetics Home Reference:wilson-disease;MedGen:C0019202;OMIM:277900;Office of Rare Diseases:7893;Orphanet:905;SNOMED CT:88518009 2005-05-01 1 0 13 103701773 G A 103701773 103701773 - Haplotype 8241 RCV000008724 SCV000028933 38442 SLC10A2 NM_000452.2:c.785C>T NP_000443.1:p.Thr262Met NM_000452.2:c.785C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 15, 1997 OMIM OMIM Bile acid malabsorption, primary;BILE ACID MALABSORPTION, PRIMARY 9109432 germline Genetic Alliance:Bile+acid+malabsorption%2C+primary/7818;MedGen:C2750087;OMIM:613291 1997-04-15 0 0 13 103703640 A G 103703640 103703640 - Haplotype 8241 RCV000008724 SCV000028933 23280 SLC10A2 NM_000452.2:c.728T>C NP_000443.1:p.Leu243Pro NM_000452.2:c.728T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 15, 1997 OMIM OMIM Bile acid malabsorption, primary;BILE ACID MALABSORPTION, PRIMARY 9109432 germline Genetic Alliance:Bile+acid+malabsorption%2C+primary/7818;MedGen:C2750087;OMIM:613291 1997-04-15 0 0 -14 29237048 C G 29237048 29237048 + Phase unknown 189607 RCV000170068 SCV000222377 169055 FOXG1 NM_005249.4:c.563C>G NP_005240.3:p.Ala188Gly NM_005249.4:c.563C>G:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Feb 08, 2013 RettBASE RettBASE not provided;Not provided de novo MedGen:CN221809 2011-02-15 1 0 -14 29237129 TC CT 29237129 29237130 + Phase unknown 189607 RCV000170068 SCV000222377 187407 FOXG1 NM_005249.4:c.644_645delTCinsCT NP_005240.3:p.Phe215Ser NM_005249.4:c.644_645delTCinsCT:missense variant Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 08, 2013 RettBASE RettBASE not provided;Not provided de novo MedGen:CN221809 2011-02-15 0 0 -14 32031331 G A 32031331 32031331 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 15046 NUBPL NM_025152.2:c.166G>A NP_079428.2:p.Gly56Arg NM_025152.2:c.166G>A:missense variant;NR_120408.1:n.221G>A:non-coding transcript variant Uncertain significance pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Feb 22, 2017 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-05-02;2014-04-09 1 0 -14 32319298 T C 32319298 32319298 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 59458 NUBPL NM_025152.2:c.815-27T>C NM_025152.2:c.815-27T>C:intron variant Conflicting interpretations of pathogenicity pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter Feb 09, 2017 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-05-02;2014-04-09 0 1 +14 23895007 G A 23895007 23895007 - Haplotype 487487 RCV000015167 SCV000035424 29150 MYH7 NM_000257.3:c.2183C>T NP_000248.2:p.Ala728Val NM_000257.3:c.2183C>T:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 27, 2017 OMIM OMIM Familial hypertrophic cardiomyopathy 1;CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 11424919;20301559;20301725;21267010;23788249;25173338;25356965;27854360 germline GeneReviews:NBK1768;Genetic Alliance:Familial+hypertrophic+cardiomyopathy+1/8382;MedGen:C3495498;OMIM:192600 2001-06-01 2 0 +14 23896866 C T 23896866 23896866 - Haplotype 487487 RCV000015167 SCV000035424 29130 MYH7 NM_000257.3:c.1816G>A NP_000248.2:p.Val606Met NM_000257.3:c.1816G>A:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 13, 2017 OMIM OMIM Familial hypertrophic cardiomyopathy 1;CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 11424919;20301559;20301725;21267010;23788249;25173338;25356965;27854360 germline GeneReviews:NBK1768;Genetic Alliance:Familial+hypertrophic+cardiomyopathy+1/8382;MedGen:C3495498;OMIM:192600 2001-06-01 2 0 +14 29237048 C G 29237048 29237048 + Phase unknown 189607 RCV000170068 SCV000222377 169055 FOXG1 NM_005249.4:c.563C>G NP_005240.3:p.Ala188Gly NM_005249.4:c.563C>G:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Feb 08, 2013 RettBASE RettBASE not provided;Not provided de novo MedGen:CN517202 2011-02-15 1 0 +14 29237129 TC CT 29237129 29237130 + Phase unknown 189607 RCV000170068 SCV000222377 187407 FOXG1 NM_005249.4:c.644_645delTCinsCT NP_005240.3:p.Phe215Ser NM_005249.4:c.644_645delTCinsCT:missense variant Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 08, 2013 RettBASE RettBASE not provided;Not provided de novo MedGen:CN517202 2011-02-15 0 0 +14 32031331 G A 32031331 32031331 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 15046 NUBPL NM_025152.2:c.166G>A NP_079428.2:p.Gly56Arg NM_025152.2:c.166G>A:missense variant;NR_120408.1:n.221G>A:non-coding transcript variant Uncertain significance pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Feb 22, 2017 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-04-23;2014-04-09 1 0 +14 32319298 T C 32319298 32319298 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 59458 NUBPL NM_025152.2:c.815-27T>C NM_025152.2:c.815-27T>C:intron variant Conflicting interpretations of pathogenicity pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter Aug 14, 2017 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-04-23;2014-04-09 0 1 14 51378443 AGTAC A 51378444 51378447 - Haplotype 38368 RCV000020505 SCV000040956 46929 PYGL NM_002863.4:c.1969+1_1969+4delGTAC NM_002863.4:c.1969+1_1969+4delGTAC:intron variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 17, 2011 GeneReviews GeneReviews Glycogen storage disease, type VI;Glycogen Storage Disease Type VI 17705025;20301760 not provided GeneReviews:NBK5941;Genetic Alliance:Glycogen+Storage+Disease+Type+6/3126;MedGen:C0017925;OMIM:232700;Office of Rare Diseases:6529;Orphanet:369;SNOMED CT:237971004;SNOMED CT:29291001 2011-05-17 0 0 14 51378448 CTTTTT AAAAAG 51378448 51378453 - Haplotype 38368 RCV000020505 SCV000040956 46930 PYGL NM_002863.4:c.1964_1969invAAAAAG NP_002854.3:p.Glu655_Lys656del - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 17, 2011 GeneReviews GeneReviews Glycogen storage disease, type VI;Glycogen Storage Disease Type VI 17705025;20301760 not provided GeneReviews:NBK5941;Genetic Alliance:Glycogen+Storage+Disease+Type+6/3126;MedGen:C0017925;OMIM:232700;Office of Rare Diseases:6529;Orphanet:369;SNOMED CT:237971004;SNOMED CT:29291001 2011-05-17 0 0 14 75570544 C A 75570544 75570544 - Haplotype 242987 RCV000234965 SCV000292296 248590 NEK9 NM_033116.5:c.1731+1G>T NM_033116.5:c.1731+1G>T:splice donor variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 11, 2016 OMIM OMIM Nevus comedonicus;NEVUS COMEDONICUS, SOMATIC 27153399 somatic MedGen:C0265987;OMIM:617025 2016-07-11 0 0 14 75570561 C A 75570561 75570561 - Haplotype 242987 RCV000234965 SCV000292296 244069 NEK9 NM_033116.5:c.1715G>T NP_149107.4:p.Gly572Val NM_033116.5:c.1715G>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 11, 2016 OMIM OMIM Nevus comedonicus;NEVUS COMEDONICUS, SOMATIC 27153399 somatic MedGen:C0265987;OMIM:617025 2016-07-11 0 0 -14 94847262 T A 94847262 94847262 - Haplotype 440500;440501 RCV000508742;RCV000508836 SCV000605935;SCV000605936 33008 SERPINA1 NM_001127701.1:c.863A>T NP_001121173.1:p.Glu288Val NM_001127701.1:c.863A>T:missense variant Pathogenic, other pathogenic 2 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Feb 24, 2017 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency;Alpha-1 Antitrypsin Deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2016-07-12;2015-11-13 0 0 +14 94847262 T A 94847262 94847262 - Haplotype 440500;440501 RCV000508742;RCV000508836 SCV000605935;SCV000605936 33008 SERPINA1 NM_001127701.1:c.863A>T NP_001121173.1:p.Glu288Val NM_001127701.1:c.863A>T:missense variant Pathogenic, other pathogenic 2 0 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 23, 2017 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency;Alpha-1 Antitrypsin Deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2016-07-12;2015-11-13 2 0 14 94847386 G A 94847386 94847386 - Haplotype 219354 RCV000205893 SCV000259189 33000 SERPINA1 NM_001127707.1:c.739C>T NP_001121179.1:p.Arg247Cys NM_001127701.1:c.739C>T:missense variant Conflicting interpretations of pathogenicity, other pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Jul 15, 2016 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2015-07-23 1 1 14 94848973 T C 94848973 94848973 - Haplotype 440500 RCV000508742 SCV000605935 434125 SERPINA1 NM_001127701.1:c.602A>G NP_001121173.1:p.Asp201Gly NM_001127701.1:c.602A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jul 12, 2016 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency;Alpha-1 Antitrypsin Deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2016-07-12 0 0 -14 94849061 C T 94849061 94849061 - Haplotype 17972 RCV000019572 SCV000039869 33011 SERPINA1 NM_001127701.1:c.514G>A NP_001121173.1:p.Gly172Arg NM_001127701.1:c.514G>A:missense variant Uncertain significance other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 15, 2016 OMIM OMIM PI M(NICHINAN);PI M(NICHINAN) 2309708;6162902 germline OMIM:107400.0017 2016-07-15 0 0 +14 94849061 C T 94849061 94849061 - Haplotype 17972 RCV000019572 SCV000039869 33011 SERPINA1 NM_001127701.1:c.514G>A NP_001121173.1:p.Gly172Arg NM_001127701.1:c.514G>A:missense variant Uncertain significance other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 15, 2016 OMIM OMIM PI M(NICHINAN);PI M(NICHINAN) 2309708;6162902 germline OMIM:107400.0017 2016-07-15 0 0 14 94849345 GAGA G 94849346 94849348 - Haplotype 17972 RCV000019572 SCV000039869 321860 SERPINA1 NM_001127701.1:c.227_229delTCT NP_001121173.1:p.Phe76del NM_001127701.1:c.227_229delTCT:inframe_variant Pathogenic, other other 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 15, 2016 OMIM OMIM PI M(NICHINAN);PI M(NICHINAN) 2309708;6162902 germline OMIM:107400.0017 2016-07-15 2 0 14 94849385 G T 94849385 94849385 - Haplotype 440501 RCV000508836 SCV000605936 434128 SERPINA1 NM_001127701.1:c.190C>A NP_001121173.1:p.Gln64Lys NM_001127701.1:c.190C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Nov 13, 2015 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency;Alpha-1 Antitrypsin Deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2015-11-13 0 0 14 94849388 G A 94849388 94849388 - Haplotype 219354 RCV000205893 SCV000259189 33013 SERPINA1 NM_001127701.1:c.187C>T NP_001121173.1:p.Arg63Cys NM_001127701.1:c.187C>T:missense variant Conflicting interpretations of pathogenicity, other pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Oct 11, 2016 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2015-07-23 1 1 +15 40763815 C G 40763815 40763815 + Haplotype 446172 RCV000002428 SCV000022586 439519 CHST14 NM_130468.3:c.403C>G NP_569735.1:p.Arg135Gly NM_130468.3:c.403C>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 01, 2009 OMIM OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007;20004762 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 2009-12-01 0 0 +15 40763822 T A 40763822 40763822 + Haplotype 446172 RCV000002428 SCV000022586 439520 CHST14 NM_130468.3:c.410T>A NP_569735.1:p.Leu137Gln NM_130468.3:c.410T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 01, 2009 OMIM OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007;20004762 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 2009-12-01 0 0 +15 49037145 CGTT C 49037146 49037148 - Haplotype 446758 RCV000077752 SCV000109558 97524 CEP152 - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 2013 OMIM OMIM Primary autosomal recessive microcephaly 9;MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 20301772;22775483 germline GeneReviews:NBK9587;GeneTests:279904;MedGen:C3553886;OMIM:614852;Orphanet:2512 2013-05-01 0 0 +15 49048296 A G 49048296 49048296 - Haplotype 446758 RCV000077752 SCV000109558 97321 CEP152 NM_001194998.1:c.3149T>C NP_001181927.1:p.Leu1050Pro NM_001194998.1:c.3149T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 2013 OMIM OMIM Primary autosomal recessive microcephaly 9;MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 20301772;22775483 germline GeneReviews:NBK9587;GeneTests:279904;MedGen:C3553886;OMIM:614852;Orphanet:2512 2013-05-01 0 0 15 50782626 T G 50782626 50782626 + Haplotype 161994 RCV000149419 SCV000192010 171716 USP8 NM_005154.4:c.2138T>G NP_005145.3:p.Leu713Arg NM_001128610.2:c.2138T>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 18, 2014 Institute of Human Genetics, Klinikum rechts der Isar Institute of Human Genetics, Klinikum rechts der Isar Pituitary dependent hypercortisolism;Pituitary dependent hypercortisolism 22720333 somatic GeneReviews:NBK97965;Genetic Alliance:Pituitary+dependent+hypercortisolism/9118;MedGen:C0221406;OMIM:219090;Orphanet:96253;SNOMED CT:190502001 2014-11-18 0 0 15 50782638 A G 50782638 50782638 + Haplotype 161994 RCV000149419 SCV000192010 171717 USP8 NM_005154.4:c.2150A>G NP_005145.3:p.Tyr717Cys NM_001128610.2:c.2150A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 18, 2014 Institute of Human Genetics, Klinikum rechts der Isar Institute of Human Genetics, Klinikum rechts der Isar Pituitary dependent hypercortisolism;Pituitary dependent hypercortisolism 22720333 somatic GeneReviews:NBK97965;Genetic Alliance:Pituitary+dependent+hypercortisolism/9118;MedGen:C0221406;OMIM:219090;Orphanet:96253;SNOMED CT:190502001 2014-11-18 0 0 15 51250689 G A 51250689 51250689 + Haplotype 224506 RCV000210065 SCV000265991 226246 AP4E1 NM_007347.4:c.1549G>A NP_031373.2:p.Val517Ile NM_007347.4:c.1549G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 16, 2016 OMIM OMIM Stuttering, familial persistent 1;STUTTERING, FAMILIAL PERSISTENT, 1 23239121;26544806 germline Gene:100049541;MedGen:C3489627;OMIM:184450 2016-03-16 0 0 15 51289577 G A 51289577 51289577 + Haplotype 224506 RCV000210065 SCV000265991 226245 AP4E1 NM_007347.4:c.2401G>A NP_031373.2:p.Glu801Lys NM_007347.4:c.2401G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 16, 2016 OMIM OMIM Stuttering, familial persistent 1;STUTTERING, FAMILIAL PERSISTENT, 1 23239121;26544806 germline Gene:100049541;MedGen:C3489627;OMIM:184450 2016-03-16 0 0 -15 89866657 C G 89866657 89866657 - Phase unknown 157526 RCV000144870 SCV000172142 28546 POLG NM_002693.2:c.2243G>C NP_002684.1:p.Trp748Ser NM_002693.2:c.2243G>C:missense variant Pathogenic uncertain significance 0 0 1 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Apr 07, 2017 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547;15824347;20301532;22189570;25025039;28812649 not applicable GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 2 0 -15 89870237 C G 89870237 89870237 - Phase unknown 157526 RCV000144870 SCV000172142 28549 POLG NM_002693.2:c.1491G>C NP_002684.1:p.Gln497His NM_002693.2:c.1491G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 criteria provided, conflicting interpretations no assertion criteria provided Mar 11, 2016 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547;15824347;20301532;22189570;25025039;28812649 not applicable GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 1 1 +15 72643548 C T 72643548 72643548 - Haplotype 446267 RCV000004129 SCV000024295 38431 HEXA NM_000520.5:c.598G>A NP_000511.2:p.Val200Met NM_000520.5:c.598G>A:missense variant;NR_134869.1:n.1099G>A:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 1996 OMIM OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222;2976595;8198136;8659543 germline MedGen:C1848916 1996-07-01 0 0 +15 72643572 C G 72643572 72643572 - Haplotype 446267 RCV000004129 SCV000024295 18962 HEXA NM_000520.5:c.574G>C NP_000511.2:p.Val192Leu NM_000520.5:c.574G>C:missense variant;NR_134869.1:n.1075G>C:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 1996 OMIM OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222;2976595;8198136;8659543 germline MedGen:C1848916 1996-07-01 0 0 +15 89866657 C G 89866657 89866657 - Phase unknown 157526 RCV000144870 SCV000172142 28546 POLG NM_002693.2:c.2243G>C NP_002684.1:p.Trp748Ser NM_002693.2:c.2243G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jul 14, 2017 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547;15824347;20301532;22189570;25025039;28812649 not applicable GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 1 1 +15 89870237 C G 89870237 89870237 - Phase unknown 157526 RCV000144870 SCV000172142 28549 POLG NM_002693.2:c.1491G>C NP_002684.1:p.Gln497His NM_002693.2:c.1491G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jul 21, 2017 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547;15824347;20301532;22189570;25025039;28812649 not applicable GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 1 1 16 223509 C G 223509 223509 + Haplotype 375745 RCV000417222 SCV000503054 362631 HBA2 NM_000517.4:c.339C>G NP_000508.1:p.His113Gln NM_000517.4:c.339C>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 29, 2016 GeneReviews GeneReviews alpha Thalassemia 20301608;25052315;8735302 germline GeneReviews:NBK1435;Genetic Alliance:Alpha-Thalassemia/333;MedGen:C0002312;OMIM:604131;Orphanet:846;SNOMED CT:68913001 2016-12-29 0 0 16 223509 CCTCCCCGCCGAG C 223510 223521 + Haplotype 375745 RCV000417222 SCV000503054 362632 HBA2 NM_000517.4:c.340_351delCTCCCCGCCGAG NP_000508.1:p.Leu114_Glu117del - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 29, 2016 GeneReviews GeneReviews alpha Thalassemia 20301608;25052315;8735302 germline GeneReviews:NBK1435;Genetic Alliance:Alpha-Thalassemia/333;MedGen:C0002312;OMIM:604131;Orphanet:846;SNOMED CT:68913001 2016-12-29 0 0 -16 227067 A G 227067 227067 + Haplotype 15762 RCV000017073 SCV000037345 30800 HBA1 NM_000558.4:c.235A>G NP_000549.1:p.Asn79Asp NM_000558.4:c.235A>G:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN J (SINGAPORE);HEMOGLOBIN J (SINGAPORE) 5085670 germline OMIM:141800.0075 2016-07-20 0 0 +16 227067 A G 227067 227067 + Haplotype 15762 RCV000017073 SCV000037345 30800 HBA1 NM_000558.4:c.235A>G NP_000549.1:p.Asn79Asp NM_000558.4:c.235A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN J (SINGAPORE);HEMOGLOBIN J (SINGAPORE) 5085670 germline OMIM:141800.0075 2016-07-20 0 0 16 227071 C G 227071 227071 + Haplotype 15762 RCV000017073 SCV000037345 38474 HBA1 NM_000558.4:c.239C>G NP_000549.1:p.Ala80Gly NM_000558.4:c.239C>G:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN J (SINGAPORE);HEMOGLOBIN J (SINGAPORE) 5085670 germline OMIM:141800.0075 2016-07-20 0 0 16 1254325 G A 1254325 1254325 + Haplotype 2704 RCV000002823 SCV000022981 17743 CACNA1H NM_021098.2:c.2318G>A NP_066921.2:p.Gly773Asp NM_021098.2:c.2318G>A:missense variant - risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 11, 2005 OMIM OMIM Epilepsy, childhood absence 6;EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 12891677;15888660 germline Genetic Alliance:Epilepsy%2C+childhood+absence+6/8325;MedGen:C2749872;OMIM:611942;Orphanet:64280 2005-05-11 0 0 16 1254369 C T 1254369 1254369 + Haplotype 2704 RCV000002823 SCV000022981 38427 CACNA1H NM_021098.2:c.2362C>T NP_066921.2:p.Arg788Cys NM_021098.2:c.2362C>T:missense variant Benign risk factor 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jul 03, 2013 OMIM OMIM Epilepsy, childhood absence 6;EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 12891677;15888660 germline Genetic Alliance:Epilepsy%2C+childhood+absence+6/8325;MedGen:C2749872;OMIM:611942;Orphanet:64280 2005-05-11 1 0 @@ -335,31 +374,33 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 16 2134583 AGTGGCCTCCGGC A 2134584 2134595 + Haplotype 65324 RCV000055548 SCV000083772 76257 TSC2 NM_000548.4:c.4361_4372delGTGGCCTCCGGC NP_000539.2:p.Ser1454_Pro1458delinsThr NM_000548.4:c.4361_4372delGTGGCCTCCGGC:inframe_variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Tuberous sclerosis database (TSC2) Tuberous sclerosis database (TSC2) Tuberous sclerosis syndrome;TSC 11468687;20301399;23519317;23788249;27854360 germline GeneReviews:NBK1220;MedGen:C0041341;OMIM:191100;OMIM:PS191100;SNOMED CT:7199000 0000-00-00 0 0 16 2135279 TACGACACCC T 2135282 2135290 Haplotype 65183 RCV000055400 SCV000083621 76115 NM_000548.4:c.4621_4629delGACACCCAC NP_000539.2:p.Asp1541_His1543del NM_000548.4:c.4621_4629delGACACCCAC:inframe_variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Tuberous sclerosis database (TSC2) Tuberous sclerosis database (TSC2) Tuberous sclerosis syndrome;TSC 20301399;23519317;23788249;27854360 germline GeneReviews:NBK1220;MedGen:C0041341;OMIM:191100;OMIM:PS191100;SNOMED CT:7199000 0000-00-00 0 0 16 3293405 C T 3293405 3293405 - Haplotype 2555 RCV000002664 SCV000022822 17578 MEFV NM_000243.2:c.2082G>A NP_000234.1:p.Met694Ile NM_000243.2:c.2082G>A:missense variant;NM_001198536.1:c.*286G>A:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 06, 2017 OMIM OMIM Familial mediterranean fever, autosomal dominant;FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT 10024914;10090880;10364520;10612841;10787449;10980540;11484206;11938447;12401847;12929299;12955725;15942916;16255051;17331080;18097735;19967574;20041150;20301405;20534143;9668175 germline GeneReviews:NBK1227;Genetic Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401;MedGen:C1851347;OMIM:134610;Orphanet:342 2000-04-01 2 0 -16 3304626 C G 3304626 3304626 - Haplotype 2555 RCV000002664 SCV000022822 17581 MEFV NM_000243.2:c.442G>C NP_000234.1:p.Glu148Gln NM_000243.2:c.442G>C:missense variant;NM_001198536.1:c.277+1685G>C:intron variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Apr 30, 2017 OMIM OMIM Familial mediterranean fever, autosomal dominant;FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT 10024914;10090880;10364520;10612841;10787449;10980540;11484206;11938447;12401847;12929299;12955725;15942916;16255051;17331080;18097735;19967574;20041150;20301405;20534143;9668175 germline GeneReviews:NBK1227;Genetic Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401;MedGen:C1851347;OMIM:134610;Orphanet:342 2000-04-01 1 1 +16 3304626 C G 3304626 3304626 - Haplotype 2555 RCV000002664 SCV000022822 17581 MEFV NM_000243.2:c.442G>C NP_000234.1:p.Glu148Gln NM_000243.2:c.442G>C:missense variant;NM_001198536.1:c.277+1685G>C:intron variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 29, 2017 OMIM OMIM Familial mediterranean fever, autosomal dominant;FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT 10024914;10090880;10364520;10612841;10787449;10980540;11484206;11938447;12401847;12929299;12955725;15942916;16255051;17331080;18097735;19967574;20041150;20301405;20534143;9668175 germline GeneReviews:NBK1227;Genetic Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401;MedGen:C1851347;OMIM:134610;Orphanet:342 2000-04-01 0 1 16 14687212 A AT 14687213 14687213 - Phase unknown 180663 RCV000162315 SCV000206799 178829 PARN NM_002582.3:c.863dupA NP_002573.1:p.Asn288Lysfs NM_002582.3:c.863dupA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided May 13, 2015 Bone Marrow Failure laboratory,Queen Mary University London Bone Marrow Failure laboratory,Queen Mary University London Dyskeratosis congenita;Dyskeratosis congenita 20301779 germline GeneReviews:NBK22301;Genetic Alliance:Dyskeratosis+congenita/9566;MedGen:C0265965;OMIM:PS127550;SNOMED CT:74911008 2015-02-04 0 0 -16 14702130 ATACT A 14702131 14702134 - Phase unknown 180663 RCV000162315 SCV000206799 178830 PARN NM_002582.3:c.659+4_659+7delAGTA NM_002582.3:c.659+4_659+7delAGTA:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 12, 2015 Bone Marrow Failure laboratory,Queen Mary University London Bone Marrow Failure laboratory,Queen Mary University London Dyskeratosis congenita;Dyskeratosis congenita 20301779 germline GeneReviews:NBK22301;Genetic Alliance:Dyskeratosis+congenita/9566;MedGen:C0265965;OMIM:PS127550;SNOMED CT:74911008 2015-02-04 0 0 +16 14702130 ATACT A 14702131 14702134 - Phase unknown 180663 RCV000162315 SCV000206799 178830 PARN NM_002582.3:c.659+4_659+7delAGTA NM_002582.3:c.659+4_659+7delAGTA:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided May 12, 2015 Bone Marrow Failure laboratory,Queen Mary University London Bone Marrow Failure laboratory,Queen Mary University London Dyskeratosis congenita;Dyskeratosis congenita 20301779 germline GeneReviews:NBK22301;Genetic Alliance:Dyskeratosis+congenita/9566;MedGen:C0265965;OMIM:PS127550;SNOMED CT:74911008 2015-02-04 0 0 16 15812194 C T 15812194 15812194 - Haplotype 14131 RCV000015192 SCV000035449 29170 MYH11 NM_001040113.1:c.5294G>A NP_001035202.1:p.Arg1765Gln NM_001040113.1:c.5294G>A:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 03, 2016 OMIM OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 14722581;16444274;20301299;23788249;24882528;25173340;25356965;27854360 germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 2006-03-01 0 1 16 15815278 C A 15815278 15815278 - Haplotype 14131 RCV000015192 SCV000035449 75290 MYH11 NM_001040113.1:c.4599+1G>T NM_001040113.1:c.4599+1G>T:splice donor variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 2006 OMIM OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 14722581;16444274;20301299;23788249;24882528;25173340;25356965;27854360 germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 2006-03-01 0 0 16 15820739 C A 15820739 15820739 - Haplotype 440783 RCV000015194 SCV000035451 29173 MYH11 NM_001040114.1:c.3845G>T NP_001035203.1:p.Arg1282Leu NM_001040113.1:c.3845G>T:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Oct 29, 2013 OMIM OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 17666408;20301299;23788249;24882528;25173340;25356965;27854360 germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 2007-10-15 1 0 16 15820772 A G 15820772 15820772 - Haplotype 440783 RCV000015194 SCV000035451 94510 MYH11 NM_001040113.1:c.3812T>C NP_001035202.1:p.Leu1271Pro NM_001040113.1:c.3812T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 28, 2015 OMIM OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 17666408;20301299;23788249;24882528;25173340;25356965;27854360 germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 2007-10-15 0 0 -16 30097630 C T 30097630 30097630 - Haplotype 188053 RCV000167863 SCV000218510 255673 TBX6 NM_004608.3:c.1227G>A NP_004599.2:p.Pro409= NM_004608.3:c.1227G>A:synonymous variant Benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 28, 2016 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 25564734 germline Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 2 0 -16 30102802 T C 30102802 30102802 - Haplotype 188053 RCV000167863 SCV000218510 418555 TBX6 NM_004608.3:c.-48-240A>G NM_004608.3:c.-48-240A>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 22, 2015 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 25564734 germline Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 0 0 -16 30103160 C A 30103160 30103160 - Haplotype 188053 RCV000167863 SCV000218510 185945 TBX6 NM_004608.3:c.-49+34G>T NM_004608.3:c.-49+34G>T:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 22, 2015 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 25564734 germline Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 0 0 -16 47730319 T C 47730319 47730319 + Haplotype 13621 RCV000014591 SCV000034845 28660 PHKB NM_000293.2:c.2923T>C NP_000284.1:p.Tyr975His NM_000293.2:c.2923T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 1997 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C1849812;OMIM:261750;Orphanet:79240 1997-07-01 0 0 -16 47730322 G T 47730322 47730322 + Haplotype 13621 RCV000014591 SCV000034845 38463 PHKB NM_000293.2:c.2926G>T NP_000284.1:p.Glu976Ter NM_000293.2:c.2926G>T:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 1997 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C1849812;OMIM:261750;Orphanet:79240 1997-07-01 0 0 +16 30097630 C T 30097630 30097630 - Haplotype 188053 RCV000167863 SCV000218510 255673 TBX6 NM_004608.3:c.1227G>A NP_004599.2:p.Pro409= NM_004608.3:c.1227G>A:synonymous variant Benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 28, 2016 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 20301771;25564734 germline GeneReviews:NBK8828;Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 2 0 +16 30102802 T C 30102802 30102802 - Haplotype 188053 RCV000167863 SCV000218510 418555 TBX6 NM_004608.3:c.-48-240A>G NM_004608.3:c.-48-240A>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 22, 2015 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 20301771;25564734 germline GeneReviews:NBK8828;Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 0 0 +16 30103160 C A 30103160 30103160 - Haplotype 188053 RCV000167863 SCV000218510 185945 TBX6 NM_004608.3:c.-49+34G>T NM_004608.3:c.-49+34G>T:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 22, 2015 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 20301771;25564734 germline GeneReviews:NBK8828;Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 0 0 +16 47730319 T C 47730319 47730319 + Haplotype 13621 RCV000014591 SCV000034845 28660 PHKB NM_000293.2:c.2923T>C NP_000284.1:p.Tyr975His NM_000293.2:c.2923T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 1997 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C0543514;OMIM:261750;Orphanet:79240 1997-07-01 0 0 +16 47730322 G T 47730322 47730322 + Haplotype 13621 RCV000014591 SCV000034845 38463 PHKB NM_000293.2:c.2926G>T NP_000284.1:p.Glu976Ter NM_000293.2:c.2926G>T:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 1997 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C0543514;OMIM:261750;Orphanet:79240 1997-07-01 0 0 16 56902267 C T 56902267 56902267 + Haplotype 8596 RCV000009127 SCV000029344 23635 SLC12A3 NM_000339.2:c.488C>T NP_000330.2:p.Thr163Met NM_000339.2:c.488C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 26, 2006 OMIM OMIM Familial hypokalemia-hypomagnesemia;GITELMAN SYNDROME 17000984;21343949 germline Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 2006-09-26 0 0 16 56928506 G A 56928506 56928506 + Haplotype 8596 RCV000009127 SCV000029344 38443 SLC12A3 NM_000339.2:c.2612G>A NP_000330.2:p.Arg871His NM_000339.2:c.2612G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 26, 2006 OMIM OMIM Familial hypokalemia-hypomagnesemia;GITELMAN SYNDROME 17000984;21343949 germline Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 2006-09-26 0 0 16 67976470 G A 67976470 67976470 - Haplotype 3667 RCV000003852 SCV000024017 38429 LCAT NM_000229.1:c.544C>T NP_000220.1:p.Arg182Cys NM_000229.1:c.544C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 01, 1993 OMIM OMIM Norum disease;LCAT DEFICIENCY 8432868 germline Genetic Alliance:Norum+disease/5271;MedGen:C0023195;OMIM:245900;Office of Rare Diseases:4011;Orphanet:650;Orphanet:79293 1993-02-01 0 0 16 67976842 C T 67976842 67976842 - Haplotype 3667 RCV000003852 SCV000024017 18706 LCAT NM_000229.1:c.349G>A NP_000220.1:p.Ala117Thr NM_000229.1:c.349G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 01, 1993 OMIM OMIM Norum disease;LCAT DEFICIENCY 8432868 germline Genetic Alliance:Norum+disease/5271;MedGen:C0023195;OMIM:245900;Office of Rare Diseases:4011;Orphanet:650;Orphanet:79293 1993-02-01 0 0 16 88786582 G A 88786582 88786582 - Haplotype 55809 RCV000049235 SCV000077488 70465 PIEZO1 NM_001142864.3:c.6059C>T NP_001136336.2:p.Ala2020Val NM_001142864.3:c.6059C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 09, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS 23479567;9718354 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 0 0 16 88793552 G A 88793552 88793552 - Haplotype 55809 RCV000049235 SCV000077488 70466 PIEZO1 NM_001142864.3:c.3350C>T NP_001136336.2:p.Ser1117Leu NM_001142864.3:c.3350C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 09, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS 23479567;9718354 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 0 0 -16 88800060 C T 88800060 88800060 - Haplotype 55813 RCV000049238 SCV000077491 70476 PIEZO1 NM_001142864.3:c.2423G>A NP_001136336.2:p.Arg808Gln NM_001142864.3:c.2423G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 02, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-07-02 0 0 -16 88800139 C T 88800139 88800139 - Haplotype 55813 RCV000049238 SCV000077491 70475 PIEZO1 NM_001142864.3:c.2344G>A NP_001136336.2:p.Gly782Ser NM_001142864.3:c.2344G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 02, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-07-02 0 0 -16 88801252 G C 88801252 88801252 - Haplotype 55813 RCV000049238 SCV000077491 70469 PIEZO1 NM_001142864.3:c.1848+31C>G NM_001142864.3:c.1848+31C>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 02, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-07-02 0 0 -17 7918017 G C 7918017 7918017 + Haplotype 9354;9356 RCV000009948;RCV000009950 SCV000030169;SCV000030171 24393 GUCY2D NM_000180.3:c.2511G>C NP_000171.1:p.Glu837Asp NM_000180.3:c.2511G>C:missense variant not provided pathogenic 2 0 0 0 0 no assertion provided no assertion criteria provided Jan 01, 2000 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177;9683616 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01;1998-08-01 0 0 -17 7918018 C A 7918018 7918018 + Haplotype 9354 RCV000009948 SCV000030169 38445 GUCY2D NM_000180.3:c.2512C>A NP_000171.1:p.Arg838Ser NM_000180.3:c.2512C>A:missense variant not provided pathogenic 1 0 0 0 0 no assertion provided no assertion criteria provided Jan 01, 2000 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01 0 0 -17 7918018 C T 7918018 7918018 + Haplotype 9356 RCV000009950 SCV000030171 24394 GUCY2D NM_000180.3:c.2512C>T NP_000171.1:p.Arg838Cys NM_000180.3:c.2512C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 01, 2003 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 9683616 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 1998-08-01 0 0 -17 7918022 C T 7918022 7918022 + Haplotype 9356 RCV000009950 SCV000030171 38391 GUCY2D NM_000180.3:c.2516C>T NP_000171.1:p.Thr839Met NM_000180.3:c.2516C>T:missense variant not provided pathogenic 1 0 0 0 0 no assertion provided no assertion criteria provided Aug 01, 1998 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 9683616 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 1998-08-01 0 0 +16 88800060 C T 88800060 88800060 - Haplotype 55813 RCV000049238 SCV000077491 70476 PIEZO1 NM_001142864.3:c.2423G>A NP_001136336.2:p.Arg808Gln NM_001142864.3:c.2423G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 09, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 0 0 +16 88800139 C T 88800139 88800139 - Haplotype 55813 RCV000049238 SCV000077491 70475 PIEZO1 NM_001142864.3:c.2344G>A NP_001136336.2:p.Gly782Ser NM_001142864.3:c.2344G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 09, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 0 0 +16 88801252 G C 88801252 88801252 - Haplotype 55813 RCV000049238 SCV000077491 70469 PIEZO1 NM_001142864.3:c.1848+31C>G NM_001142864.3:c.1848+31C>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 09, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 0 0 +17 7123838 C T 7123838 7123838 + Haplotype 441528 RCV000001698 SCV000021854 16670 ACADVL NM_000018.3:c.194C>T NP_000009.1:p.Pro65Leu NM_000018.3:c.194C>T:missense variant;NM_001033859.2:c.139-85C>T:intron variant;NM_001270448.1:c.-35C>T:5 prime UTR variant Benign/Likely benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Aug 04, 2017 OMIM OMIM Very long chain acyl-CoA dehydrogenase deficiency;VLCAD DEFICIENCY 10790204;20301763 germline GeneReviews:NBK6816;Genetic Alliance:VLCAD+deficiency/7410;MedGen:C3887523;OMIM:201475;Office of Rare Diseases:5508;Orphanet:26793;SNOMED CT:237996001;SNOMED CT:237997005 2000-01-01 2 0 +17 7125387 A C 7125387 7125387 + Haplotype 441528 RCV000001698 SCV000021854 38417 ACADVL NM_000018.3:c.739A>C NP_000009.1:p.Lys247Gln NM_000018.3:c.739A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 2000 OMIM OMIM Very long chain acyl-CoA dehydrogenase deficiency;VLCAD DEFICIENCY 10790204;20301763 germline GeneReviews:NBK6816;Genetic Alliance:VLCAD+deficiency/7410;MedGen:C3887523;OMIM:201475;Office of Rare Diseases:5508;Orphanet:26793;SNOMED CT:237996001;SNOMED CT:237997005 2000-01-01 0 0 +17 7918017 G C 7918017 7918017 + Haplotype 453243;453244 RCV000009948;RCV000009950 SCV000030169;SCV000030171 24393 GUCY2D NM_000180.3:c.2511G>C NP_000171.1:p.Glu837Asp NM_000180.3:c.2511G>C:missense variant not provided pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 15, 2017 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177;10951519 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01;2017-12-15 0 0 +17 7918018 C A 7918018 7918018 + Haplotype 453243 RCV000009948 SCV000030169 38445 GUCY2D NM_000180.3:c.2512C>A NP_000171.1:p.Arg838Ser NM_000180.3:c.2512C>A:missense variant not provided pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 2000 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01 0 0 +17 7918018 C T 7918018 7918018 + Haplotype 453244 RCV000009950 SCV000030171 24394 GUCY2D NM_000180.3:c.2512C>T NP_000171.1:p.Arg838Cys NM_000180.3:c.2512C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 15, 2017 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10951519 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2017-12-15 0 0 +17 7918022 C T 7918022 7918022 + Haplotype 453244 RCV000009950 SCV000030171 38391 GUCY2D NM_000180.3:c.2516C>T NP_000171.1:p.Thr839Met NM_000180.3:c.2516C>T:missense variant not provided pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 15, 2017 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10951519 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2017-12-15 0 0 17 17118608 G TC 17118608 17118608 - Haplotype 3377 RCV000003544 SCV000023702 243924 FLCN NM_144997.5:c.1323delCinsGA NP_659434.2:p.His442Thrfs NM_144997.5:c.1323delCinsGA:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 01, 2009 OMIM OMIM Multiple fibrofolliculomas;BIRT-HOGG-DUBE SYNDROME 19320655;19562744;20301695;24319509;25394175 germline GeneReviews:NBK1522;Genetic Alliance:Multiple+fibrofolliculomas/8920;Genetics Home Reference:birt-hogg-dube-syndrome;MedGen:C0346010;OMIM:135150;Office of Rare Diseases:2322;Orphanet:122;SNOMED CT:110985001 2009-09-01 0 0 17 17118626 AAACTCTGTAAC A 17118627 17118637 - Haplotype 3377 RCV000003544 SCV000023702 18416 FLCN NM_144997.5:c.1301-7_1304delGTTACAGAGTT NM_144997.5:c.1301-7_1304delGTTACAGAGTT:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 01, 2009 OMIM OMIM Multiple fibrofolliculomas;BIRT-HOGG-DUBE SYNDROME 19320655;19562744;20301695;24319509;25394175 germline GeneReviews:NBK1522;Genetic Alliance:Multiple+fibrofolliculomas/8920;Genetics Home Reference:birt-hogg-dube-syndrome;MedGen:C0346010;OMIM:135150;Office of Rare Diseases:2322;Orphanet:122;SNOMED CT:110985001 2009-09-01 0 0 17 19561110 G A 19561110 19561110 + Haplotype 438264 RCV000504796 SCV000598618 260161 ALDH3A2 NM_000382.2:c.733G>A NP_000373.1:p.Asp245Asn NM_000382.2:c.733G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jun 01, 2017 Rizzo Lab,University of Nebraska Medical Center Rizzo Lab,University of Nebraska Medical Center Sjögren-Larsson syndrome;Ichthyosis;Spasticity;Intellectual disability;Sjogren-Larsson syndrome 10577908 germline Genetic Alliance:Sjogren-Larsson+syndrome/6627;Genetics Home Reference:sjogren-larsson-syndrome;MedGen:C0037231;OMIM:270200;Office of Rare Diseases:7654;Orphanet:816;SNOMED CT:111303009 2017-06-01 0 0 @@ -367,18 +408,22 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 17 19564543 CT C 19564547 19564547 + Haplotype 438264 RCV000504796 SCV000598618 431887 ALDH3A2 NM_000382.2:c.906delT NP_000373.1:p.Phe302Leufs NM_000382.2:c.906delT:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jun 01, 2017 Rizzo Lab,University of Nebraska Medical Center Rizzo Lab,University of Nebraska Medical Center Sjögren-Larsson syndrome;Ichthyosis;Spasticity;Intellectual disability;Sjogren-Larsson syndrome 10577908 germline Genetic Alliance:Sjogren-Larsson+syndrome/6627;Genetics Home Reference:sjogren-larsson-syndrome;MedGen:C0037231;OMIM:270200;Office of Rare Diseases:7654;Orphanet:816;SNOMED CT:111303009 2017-06-01 0 0 17 19564550 T G 19564550 19564550 + Haplotype 438264 RCV000504796 SCV000598618 431888 ALDH3A2 NM_000382.2:c.909T>G NP_000373.1:p.Gly303= NM_000382.2:c.909T>G:synonymous variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jun 01, 2017 Rizzo Lab,University of Nebraska Medical Center Rizzo Lab,University of Nebraska Medical Center Sjögren-Larsson syndrome;Ichthyosis;Spasticity;Intellectual disability;Sjogren-Larsson syndrome 10577908 germline Genetic Alliance:Sjogren-Larsson+syndrome/6627;Genetics Home Reference:sjogren-larsson-syndrome;MedGen:C0037231;OMIM:270200;Office of Rare Diseases:7654;Orphanet:816;SNOMED CT:111303009 2017-06-01 0 0 17 29577934 TA T 29577935 29577935 + Haplotype 217112 RCV000200907 SCV000255592 213715 NF1 NM_001042492.2:c.4110+1798del NM_000267.3:c.4110+1798del:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided - Medical Genomics Laboratory,Department of Genetics UAB Medical Genomics Laboratory,Department of Genetics UAB Neurofibromatosis, type 1;Neurofibromatosis, type 1 15604628;17636453;20065170;20301288;20301471;24893135;26189818 loss of function unknown GeneReviews:NBK1109;Genetic Alliance:Neurofibromatosis+type+1/5174;Genetic Testing Registry (GTR):GTR000260605;Genetic Testing Registry (GTR):GTR000335545;Genetic Testing Registry (GTR):GTR000500115;Genetic Testing Registry (GTR):GTR000500672;Genetic Testing Registry (GTR):GTR000500881;Genetic Testing Registry (GTR):GTR000500970;Genetic Testing Registry (GTR):GTR000500971;Genetic Testing Registry (GTR):GTR000500972;Genetic Testing Registry (GTR):GTR000501087;Genetic Testing Registry (GTR):GTR000501088;Genetic Testing Registry (GTR):GTR000509686;Genetic Testing Registry (GTR):GTR000510677;Genetic Testing Registry (GTR):GTR000510679;Genetic Testing Registry (GTR):GTR000511186;Genetic Testing Registry (GTR):GTR000511188;Genetic Testing Registry (GTR):GTR000514608;Genetic Testing Registry (GTR):GTR000514913;Genetic Testing Registry (GTR):GTR000514981;Genetic Testing Registry (GTR):GTR000515566;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520393;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000521399;Genetic Testing Registry (GTR):GTR000521505;Genetic Testing Registry (GTR):GTR000521546;Genetic Testing Registry (GTR):GTR000522322;Genetic Testing Registry (GTR):GTR000528459;Genetic Testing Registry (GTR):GTR000528529;Genetic Testing Registry (GTR):GTR000528533;Genetic Testing Registry (GTR):GTR000528913;Genetic Testing Registry (GTR):GTR000528930;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000529068;Genetic Testing Registry (GTR):GTR000551630;Genetic Testing Registry (GTR):GTR000552183;Genetic Testing Registry (GTR):GTR000552305;Genetic Testing Registry (GTR):GTR000556576;MedGen:C0027831;OMIM:162200;OMIM:613113.0001;OMIM:613113.0002;OMIM:613113.0003;OMIM:613113.0004;OMIM:613113.0005;OMIM:613113.0006;OMIM:613113.0007;OMIM:613113.0008;OMIM:613113.0009;OMIM:613113.0012;OMIM:613113.0013;OMIM:613113.0014;OMIM:613113.0015;OMIM:613113.0016;OMIM:613113.0021;OMIM:613113.0022;OMIM:613113.0023;OMIM:613113.0024;OMIM:613113.0025;OMIM:613113.0026;OMIM:613113.0027;OMIM:613113.0029;OMIM:613113.0030;OMIM:613113.0031;OMIM:613113.0032;OMIM:613113.0037;OMIM:613113.0038;OMIM:613113.0040;OMIM:613113.0041;OMIM:613113.0042;OMIM:613113.0043;OMIM:613113.0044;OMIM:613113.0046;Office of Rare Diseases:7866;Orphanet:636;Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília:R34;SNOMED CT:92824003 0000-00-00 0 0 -17 41247892 T C 41247892 41247892 - Haplotype 236265 RCV000225499 SCV000282252 46245 BRCA1 NM_007294.3:c.641A>G NP_009225.1:p.Asp214Gly NM_007294.3:c.641A>G:missense variant;NR_027676.1:n.777A>G:non-coding transcript variant Benign benign 0 0 0 0 1 no assertion for the individual variant reviewed by expert panel Jun 29, 2017 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;Genetics Home Reference:ovarian-cancer;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 0 0 -17 41247941 T G 41247941 41247941 - Haplotype 236265 RCV000225499 SCV000282252 46242 BRCA1 NM_007294.3:c.594-2A>C NM_007294.3:c.594-2A>C:splice acceptor variant Benign benign 0 0 0 0 1 reviewed by expert panel reviewed by expert panel Jun 29, 2017 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;Genetics Home Reference:ovarian-cancer;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 3 0 +17 41247892 T C 41247892 41247892 - Haplotype 236265 RCV000225499 SCV000282252 46245 BRCA1 NM_007294.3:c.641A>G NP_009225.1:p.Asp214Gly NM_007294.3:c.641A>G:missense variant;NR_027676.1:n.777A>G:non-coding transcript variant Benign benign 0 0 0 0 1 reviewed by expert panel reviewed by expert panel Jul 19, 2017 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 3 0 +17 41247941 T G 41247941 41247941 - Haplotype 236265 RCV000225499 SCV000282252 46242 BRCA1 NM_007294.3:c.594-2A>C NM_007294.3:c.594-2A>C:splice acceptor variant Benign benign 0 0 0 0 1 no assertion for the individual variant reviewed by expert panel Jul 19, 2017 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 0 0 +17 41276111 C T 41276111 41276111 - Haplotype 487432 RCV000576499 SCV000677891 424868 BRCA1 NM_007294.3:c.3G>A NP_009225.1:p.Met1Ile NM_007294.3:c.3G>A:missense variant Uncertain significance likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Apr 05, 2017 Counsyl Counsyl Breast-ovarian cancer, familial 1 15604628;16267036;16941470;17392385;17508274;19305347;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27854360 loss of function unknown GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2017-04-05 0 0 +17 41276114 T C 41276114 41276114 - Haplotype 487432 RCV000576499 SCV000677891 480485 BRCA1 NM_007294.3:c.-1A>G - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Apr 05, 2017 Counsyl Counsyl Breast-ovarian cancer, familial 1 15604628;16267036;16941470;17392385;17508274;19305347;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27854360 loss of function unknown GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2017-04-05 0 0 17 42988737 C T 42988737 42988737 - Haplotype 190352 RCV000192152 SCV000223016 77412 GFAP NM_002055.4:c.994G>A NP_002046.1:p.Glu332Lys NM_002055.4:c.994G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 08, 2015 GeneReviews GeneReviews Alexander's disease;Alexander's disease 18004641;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 0 0 -17 42988743 G C 42988743 42988743 - Haplotype 190352 RCV000192152 SCV000223016 77410 GFAP NM_002055.4:c.988C>G NP_002046.1:p.Arg330Gly NM_002055.4:c.988C>G:missense variant not provided pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 08, 2015 GeneReviews GeneReviews Alexander's disease;Alexander's disease 18004641;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 0 0 -17 42990750 C G 42990750 42990750 - Haplotype 190336 RCV000192110 SCV000222969 77391 GFAP NM_002055.4:c.667G>C NP_002046.1:p.Glu223Gln NM_002055.4:c.667G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 08, 2015 GeneReviews GeneReviews Alexander's disease;Alexander's disease 14707518;15060693;19444543;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 0 0 +17 42988743 G C 42988743 42988743 - Haplotype 190352 RCV000192152 SCV000223016 77410 GFAP NM_002055.4:c.988C>G NP_002046.1:p.Arg330Gly NM_002055.4:c.988C>G:missense variant not provided pathogenic 1 0 0 0 0 no assertion provided no assertion criteria provided Jan 08, 2015 GeneReviews GeneReviews Alexander's disease;Alexander's disease 18004641;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 0 0 +17 42990750 C G 42990750 42990750 - Haplotype 190336 RCV000192110 SCV000222969 77391 GFAP NM_002055.4:c.667G>C NP_002046.1:p.Glu223Gln NM_002055.4:c.667G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 08, 2015 GeneReviews GeneReviews Alexander's disease;Alexander's disease 14707518;15060693;19444543;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 0 0 17 42992619 C T 42992619 42992619 - Haplotype 190336 RCV000192110 SCV000222969 31209 GFAP NM_002055.4:c.236G>A NP_002046.1:p.Arg79His NM_002055.4:c.236G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Nov 08, 2016 GeneReviews GeneReviews Alexander's disease;Alexander's disease 14707518;15060693;19444543;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 1 0 17 62019163 C T 62019163 62019163 - Haplotype 21158 RCV000020275 SCV000040630 34011 SCN4A NM_000334.4:c.4479G>A NP_000325.4:p.Met1493Ile NM_000334.4:c.4479G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 28, 2016 GeneReviews GeneReviews Hyperkalemic Periodic Paralysis Type 1 10930446;20298421;20301669 germline GeneReviews:NBK1496;GeneTests:2133;Genetic Alliance:Hyperkalemic+Periodic+Paralysis+Type+1/8591;MedGen:CN074266;OMIM:170500;Orphanet:682 2016-01-28 0 0 17 62019174 A G 62019174 62019174 - Haplotype 21158 RCV000020275 SCV000040630 34010 SCN4A NM_000334.4:c.4468T>C NP_000325.4:p.Phe1490Leu NM_000334.4:c.4468T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 28, 2016 GeneReviews GeneReviews Hyperkalemic Periodic Paralysis Type 1 10930446;20298421;20301669 germline GeneReviews:NBK1496;GeneTests:2133;Genetic Alliance:Hyperkalemic+Periodic+Paralysis+Type+1/8591;MedGen:CN074266;OMIM:170500;Orphanet:682 2016-01-28 0 0 17 73513145 T C 73513145 73513145 + Haplotype 2121 RCV000002203 SCV000022361 38422 TSEN54 NM_207346.2:c.277T>C NP_997229.2:p.Ser93Pro NM_207346.2:c.277T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Sep 08, 2009 OMIM OMIM Pontocerebellar hypoplasia type 4;PONTOCEREBELLAR HYPOPLASIA, TYPE 4 18711368;20301773 germline GeneReviews:NBK9673;Genetic Alliance:Pontocerebellar+hypoplasia+type+4/5866;MedGen:C1856974;OMIM:225753;Office of Rare Diseases:343;Orphanet:166063 2008-09-01 0 0 -17 73518081 G T 73518081 73518081 + Haplotype 2121 RCV000002203 SCV000022361 17159 TSEN54 NM_207346.2:c.919G>T NP_997229.2:p.Ala307Ser NM_207346.2:c.919G>T:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided May 18, 2017 OMIM OMIM Pontocerebellar hypoplasia type 4;PONTOCEREBELLAR HYPOPLASIA, TYPE 4 18711368;20301773 germline GeneReviews:NBK9673;Genetic Alliance:Pontocerebellar+hypoplasia+type+4/5866;MedGen:C1856974;OMIM:225753;Office of Rare Diseases:343;Orphanet:166063 2008-09-01 2 0 +17 73518081 G T 73518081 73518081 + Haplotype 2121 RCV000002203 SCV000022361 17159 TSEN54 NM_207346.2:c.919G>T NP_997229.2:p.Ala307Ser NM_207346.2:c.919G>T:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Nov 01, 2017 OMIM OMIM Pontocerebellar hypoplasia type 4;PONTOCEREBELLAR HYPOPLASIA, TYPE 4 18711368;20301773 germline GeneReviews:NBK9673;Genetic Alliance:Pontocerebellar+hypoplasia+type+4/5866;MedGen:C1856974;OMIM:225753;Office of Rare Diseases:343;Orphanet:166063 2008-09-01 2 0 +17 79684843 C T 79684843 79684843 + Haplotype 446176 RCV000516170 SCV000611120 439524 SLC25A10 NM_001270888.1:c.684C>T NP_001257817.1:p.Pro228= NM_001270888.1:c.684C>T:synonymous variant;NM_001270953.1:c.574C>T:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter - Computational Biology Unit,University of Bari Computational Biology Unit,University of Bari Mitochondrial complex I deficiency;Epileptic encephalopathy;Decreased activity of mitochondrial complex I;Infantile muscular hypotonia 29211846 not applicable;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;HP:HP:0008947;HP:HP:0011923;HP:HP:0200134;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 0000-00-00 0 0 +17 79686969 G A 79686969 79686969 + Haplotype 446176 RCV000516170 SCV000611120 439525 SLC25A10 NM_001270888.1:c.790-37G>A NM_001270888.1:c.790-37G>A:intron variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter - Computational Biology Unit,University of Bari Computational Biology Unit,University of Bari Mitochondrial complex I deficiency;Epileptic encephalopathy;Decreased activity of mitochondrial complex I;Infantile muscular hypotonia 29211846 not applicable;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;HP:HP:0008947;HP:HP:0011923;HP:HP:0200134;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 0000-00-00 0 0 18 3215156 CAC GAG 3215156 3215158 - Haplotype 229030 RCV000221703 SCV000272178 230906 MYOM1 NM_003803.3:c.64_66delGTGinsCTC NP_003794.3:p.Val22Leu NM_003803.3:c.64_66delGTGinsCTC:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Jul 08, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-08 0 0 -18 3215157 A C 3215157 3215157 - Haplotype 229030 RCV000221703 SCV000272178 230904 MYOM1 NM_003803.3:c.65T>G NP_003794.3:p.Val22Gly NM_003803.3:c.65T>G:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Jul 08, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-08 0 0 +18 3215157 A C 3215157 3215157 - Haplotype 229030 RCV000221703 SCV000272178 230904 MYOM1 NM_003803.3:c.65T>G NP_003794.3:p.Val22Gly NM_003803.3:c.65T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Mar 26, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-08 0 0 18 43445579 C G 43445579 43445579 - Haplotype 267449 RCV000496979 SCV000328418 262702 EPG5 NM_020964.2:c.6766+1G>C NM_020964.2:c.6766+1G>C:splice donor variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 11, 2016 Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Absent corpus callosum cataract immunodeficiency;Vici syndrome 21965116;28615637;3344762 germline Genetic Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81;MedGen:C1855772;OMIM:242840;Office of Rare Diseases:448;Orphanet:1493 2016-08-11 0 0 18 43459054 CA C 43459055 43459055 - Haplotype 267444 RCV000496982 SCV000328413 262703 EPG5 NM_020964.2:c.5792delT NP_066015.2:p.Leu1931Trpfs NM_020964.2:c.5792delT:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 11, 2016 Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Absent corpus callosum cataract immunodeficiency;Vici syndrome 21965116;28615637;3344762 germline Genetic Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81;MedGen:C1855772;OMIM:242840;Office of Rare Diseases:448;Orphanet:1493 2016-08-11 0 0 18 43488022 C T 43488022 43488022 - Haplotype 267445 RCV000496976 SCV000328414 262704 EPG5 NM_020964.2:c.4230G>A NP_066015.2:p.Trp1410Ter NM_020964.2:c.4230G>A:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 11, 2016 Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Absent corpus callosum cataract immunodeficiency;Vici syndrome 21965116;28615637;3344762 germline Genetic Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81;MedGen:C1855772;OMIM:242840;Office of Rare Diseases:448;Orphanet:1493 2016-08-11 0 0 @@ -409,63 +454,85 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 19 7163103 C A 7163103 7163103 - Haplotype 377381 RCV000496605 SCV000503034 364263 INSR NM_000208.3:c.1969G>T NP_000199.2:p.Val657Phe NM_000208.3:c.1969G>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 02, 2014 Medical Research Institute,Tokyo Medical and Dental University Medical Research Institute,Tokyo Medical and Dental University Leprechaunism syndrome 28765322 germline Genetic Alliance:Leprechaunism+syndrome/8731;Genetics Home Reference:donohue-syndrome;MedGen:C0265344;OMIM:246200;Orphanet:508;SNOMED CT:111307005 2014-06-02 0 0 19 7170566 T C 7170566 7170566 - Haplotype 377384 RCV000496626 SCV000503037 364264 INSR NM_000208.3:c.1465A>G NP_000199.2:p.Asn489Asp NM_000208.3:c.1465A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 02, 2014 Medical Research Institute,Tokyo Medical and Dental University Medical Research Institute,Tokyo Medical and Dental University Insulin-resistant diabetes mellitus AND acanthosis nigricans 28765322 germline Genetic Alliance:Insulin-resistant+diabetes+mellitus+AND+acanthosis+nigricans/8675;Genetics Home Reference:type-a-insulin-resistance-syndrome;MedGen:C0271690;OMIM:610549;Orphanet:2297;SNOMED CT:9859006 2014-06-02 0 0 19 7184535 G A 7184535 7184535 - Haplotype 377383 RCV000496343 SCV000503036 364265 INSR NM_000208.3:c.766C>T NP_000199.2:p.Arg256Cys NM_000208.3:c.766C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 02, 2014 Medical Research Institute,Tokyo Medical and Dental University Medical Research Institute,Tokyo Medical and Dental University Pineal hyperplasia AND diabetes mellitus syndrome 28765322 germline Genetic Alliance:Pineal+hyperplasia+AND+diabetes+mellitus+syndrome/9115;Genetics Home Reference:rabson-mendenhall-syndrome;MedGen:C0271695;OMIM:262190;Orphanet:769;SNOMED CT:33559001 2014-06-02 0 0 -19 10491186 C T 10491186 10491186 - Haplotype 440728 RCV000508928 SCV000606721 434354 TYK2 NM_003331.4:c.-316G>A Uncertain significance risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 +19 10491186 C T 10491186 10491186 - Haplotype 440728 RCV000508928 SCV000606721 434354 TYK2 NM_003331.4:c.-316G>A Uncertain significance risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 19 10491187 C T 10491187 10491187 - Haplotype 440728 RCV000508928 SCV000606721 434355 TYK2 NM_003331.4:c.-317G>A Uncertain significance risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 19 10491248 T C 10491248 10491248 - Haplotype 440728 RCV000508928 SCV000606721 342540 TYK2 NM_003331.4:c.-378A>G NM_003331.4:c.-378A>G:5 prime UTR variant Uncertain significance risk factor 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 14, 2016 Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 1 0 -19 10491352 T G 10491352 10491352 - Haplotype 440728 RCV000508928 SCV000606721 434356 TYK2 NM_003331.4:c.-482A>C Uncertain significance risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 -19 10492177 A T 10492177 10492177 - Haplotype 440728 RCV000508928 SCV000606721 434357 TYK2 NM_003331.4:c.-1307T>A Uncertain significance risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 +19 10491352 T G 10491352 10491352 - Haplotype 440728 RCV000508928 SCV000606721 434356 TYK2 NM_003331.4:c.-482A>C Uncertain significance risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 +19 10492177 A T 10492177 10492177 - Haplotype 440728 RCV000508928 SCV000606721 434357 TYK2 NM_003331.4:c.-1307T>A Uncertain significance risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 19 10492178 C T 10492178 10492178 - Haplotype 440728 RCV000508928 SCV000606721 434358 TYK2 NM_003331.4:c.-1308G>A Uncertain significance risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 19 11216228 T TGTGATG 11216231 11216236 + Haplotype 250923 RCV000238362 SCV000294356 245688 LDLR NM_000527.4:c.649_654dupGATGGT NP_000518.1:p.Gly218_Gly219insAspGly NM_000527.4:c.649_654dupGATGGT:inframe_variant;NM_001195800.1:c.314-1837_314-1832dup:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Mar 25, 2016 LDLR-LOVD, British Heart Foundation LDLR-LOVD, British Heart Foundation Familial hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;27854360;7649546 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2016-03-25 0 0 -19 11218079 G A 11218079 11218079 + Haplotype 430765 RCV000495914 SCV000583747 181238 LDLR NM_000527.4:c.829G>A NP_000518.1:p.Glu277Lys NM_000527.4:c.829G>A:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Mar 30, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;28145427 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 1 1 +19 11218079 G A 11218079 11218079 + Haplotype 430765 RCV000495914 SCV000583747 181238 LDLR NM_000527.4:c.829G>A NP_000518.1:p.Glu277Lys NM_000527.4:c.829G>A:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Apr 24, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;28145427 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 1 1 19 11218182 A G 11218182 11218182 + Haplotype 430769 RCV000495938 SCV000583762 245864 LDLR NM_000527.4:c.932A>G NP_000518.1:p.Lys311Arg NM_000527.4:c.932A>G:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Mar 30, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 1 1 19 11218189 C G 11218189 11218189 + Haplotype 430769 RCV000495938 SCV000583762 245873 LDLR NM_000527.4:c.939C>G NP_000518.1:p.Cys313Trp NM_000527.4:c.939C>G:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Mar 30, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 0 0 19 11224035 T C 11224035 11224035 + Haplotype 430765 RCV000495914 SCV000583747 246074 LDLR NM_000527.4:c.1268T>C NP_000518.1:p.Ile423Thr NM_000527.4:c.1268T>C:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 30, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;28145427 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 2 0 -19 11226873 A C 11226873 11226873 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 18776 LDLR NM_000527.4:c.1690A>C NP_000518.1:p.Asn564His NM_000527.4:c.1690A>C:missense variant Conflicting interpretations of pathogenicity other;pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter Mar 30, 2017 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2012-05-04;2017-03-30 0 1 -19 11230901 A C 11230901 11230901 + Haplotype 430800 RCV000495898 SCV000583944 424334 LDLR NM_000527.4:c.1979A>C NP_000518.1:p.Gln660Pro NM_000527.4:c.1979A>C:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Mar 30, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 1 0 +19 11226873 A C 11226873 11226873 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 18776 LDLR NM_000527.4:c.1690A>C NP_000518.1:p.Asn564His NM_000527.4:c.1690A>C:missense variant Conflicting interpretations of pathogenicity pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter Mar 30, 2017 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 1997-01-01;2017-03-30 0 1 +19 11230901 A C 11230901 11230901 + Haplotype 430800 RCV000495898 SCV000583944 424334 LDLR NM_000527.4:c.1979A>C NP_000518.1:p.Gln660Pro NM_000527.4:c.1979A>C:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Mar 30, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 0 0 19 11238731 G A 11238731 11238731 + Haplotype 430800 RCV000495898 SCV000583944 424344 LDLR NM_000527.4:c.2359G>A NP_000518.1:p.Val787Met NM_000527.4:c.2359G>A:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Mar 30, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 0 0 -19 11240191 CTCCTCGTCT C 11240196 11240204 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 71434 LDLR NM_000527.4:c.2397_2405delCGTCTTCCT NP_000518.1:p.Val800_Leu802del NM_000527.4:c.2397_2405delCGTCTTCCT:inframe_variant Pathogenic/Likely pathogenic other;pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter Mar 30, 2017 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2012-05-04;2017-03-30 0 0 -19 18705148 A C 18705148 18705148 - Haplotype 5706 RCV000006060 SCV000026242 34280 CRLF1 NM_004750.4:c.1121T>G NP_004741.1:p.Leu374Arg NM_004750.4:c.1121T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 03, 2011 OMIM OMIM Cold-induced sweating syndrome 1;COLD-INDUCED SWEATING SYNDROME 1 12509788;21370513 germline GeneReviews:NBK52917;Genetic Alliance:Cold-induced+sweating+syndrome+1/8000;Genetic Alliance:Crisponi+Syndrome/2012;MedGen:C1848947;OMIM:272430;Orphanet:157820 2003-02-01 0 0 +19 11240191 CTCCTCGTCT C 11240196 11240204 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 71434 LDLR NM_000527.4:c.2397_2405delCGTCTTCCT NP_000518.1:p.Val800_Leu802del NM_000527.4:c.2397_2405delCGTCTTCCT:inframe_variant Pathogenic/Likely pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter Mar 30, 2017 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 1997-01-01;2017-03-30 0 0 +19 18705148 A C 18705148 18705148 - Haplotype 5706 RCV000006060 SCV000026242 34280 CRLF1 NM_004750.4:c.1121T>G NP_004741.1:p.Leu374Arg NM_004750.4:c.1121T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Mar 03, 2011 OMIM OMIM Cold-induced sweating syndrome 1;COLD-INDUCED SWEATING SYNDROME 1 12509788;21370513 germline GeneReviews:NBK52917;Genetic Alliance:Cold-induced+sweating+syndrome+1/8000;Genetic Alliance:Crisponi+Syndrome/2012;MedGen:C1848947;OMIM:272430;Orphanet:157820 2003-02-01 0 0 19 18710530 C T 18710530 18710530 - Haplotype 5706 RCV000006060 SCV000026242 20745 CRLF1 NM_004750.4:c.242G>A NP_004741.1:p.Arg81His NM_004750.4:c.242G>A:missense variant Benign pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Mar 03, 2011 OMIM OMIM Cold-induced sweating syndrome 1;COLD-INDUCED SWEATING SYNDROME 1 12509788;21370513 germline GeneReviews:NBK52917;Genetic Alliance:Cold-induced+sweating+syndrome+1/8000;Genetic Alliance:Crisponi+Syndrome/2012;MedGen:C1848947;OMIM:272430;Orphanet:157820 2003-02-01 0 0 19 36333331 T A 36333331 36333331 - Haplotype 6872 RCV000007275 SCV000027471 38439 NPHS1 NM_004646.3:c.2456A>T NP_004637.1:p.Asp819Val NM_004646.3:c.2456A>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 01, 2000 OMIM OMIM Finnish congenital nephrotic syndrome;NEPHROTIC SYNDROME, TYPE 1 10652016 germline Genetic Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861;MedGen:C0403399;OMIM:256300;OMIM:602716.0001;OMIM:602716.0002;OMIM:602716.0003;OMIM:602716.0004;OMIM:602716.0005;OMIM:602716.0006;OMIM:602716.0007;OMIM:602716.0008;OMIM:602716.0009;OMIM:602716.0010;Office of Rare Diseases:1500;Orphanet:839;SNOMED CT:197601003 2000-02-01 0 0 19 36339044 C T 36339044 36339044 - Haplotype 6872 RCV000007275 SCV000027471 21911 NPHS1 NM_004646.3:c.1339G>A NP_004637.1:p.Glu447Lys NM_004646.3:c.1339G>A:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 18, 2016 OMIM OMIM Finnish congenital nephrotic syndrome;NEPHROTIC SYNDROME, TYPE 1 10652016 germline Genetic Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861;MedGen:C0403399;OMIM:256300;OMIM:602716.0001;OMIM:602716.0002;OMIM:602716.0003;OMIM:602716.0004;OMIM:602716.0005;OMIM:602716.0006;OMIM:602716.0007;OMIM:602716.0008;OMIM:602716.0009;OMIM:602716.0010;Office of Rare Diseases:1500;Orphanet:839;SNOMED CT:197601003 2000-02-01 0 1 -19 38979992 AAG A 38979995 38979996 + Haplotype 29876 RCV000022757 SCV000044046 38831 RYR1 NM_000540.2:c.5726_5727delAG NP_000531.2:p.Glu1909Glyfs NM_000540.2:c.5726_5727delAG:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 07, 2012 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2012-09-07 0 0 -19 38994959 C T 38994959 38994959 + Haplotype 12985 RCV000013857 SCV000034104 28024 RYR1 NM_000540.2:c.8026C>T NP_000531.2:p.Arg2676Trp NM_000540.2:c.8026C>T:missense variant Uncertain significance risk factor 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Dec 02, 2013 OMIM OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627;14870754;16163667;16917943;20301325;23788249;25356965;27854360 germline GeneReviews:NBK1146;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 2004-01-01 1 0 -19 38995998 C G 38995998 38995998 + Haplotype 12985 RCV000013857 SCV000034104 38459 RYR1 NM_000540.2:c.8360C>G NP_000531.2:p.Thr2787Ser NM_000540.2:c.8360C>G:missense variant Benign/Likely benign risk factor 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 14, 2016 OMIM OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627;14870754;16163667;16917943;20301325;23788249;25356965;27854360 germline GeneReviews:NBK1146;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 2004-01-01 2 0 -19 39002893 T C 39002893 39002893 + Haplotype 29876 RCV000022757 SCV000044046 51078 RYR1 NM_000540.2:c.9242T>C NP_000531.2:p.Met3081Thr NM_000540.2:c.9242T>C:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jun 14, 2016 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2012-09-07 1 1 -19 42364887 G T 42364887 42364887 + Haplotype 6319 RCV000033188 SCV000057024 21358 RPS19 NM_001022.3:c.43G>T NP_001013.1:p.Val15Phe NM_001022.3:c.43G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Aug 03, 2015 OMIM OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610;20301769 germline GeneReviews:NBK7047;Genetic Alliance:Diamond-Blackfan+anemia+1/8226;MedGen:C2676137;OMIM:105650;Orphanet:124 2003-06-15 1 0 -19 42365273 C T 42365273 42365273 + Haplotype 6319 RCV000033188 SCV000057024 38387 RPS19 NM_001022.3:c.164C>T NP_001013.1:p.Thr55Met NM_001022.3:c.164C>T:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Nov 29, 2016 OMIM OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610;20301769 germline GeneReviews:NBK7047;Genetic Alliance:Diamond-Blackfan+anemia+1/8226;MedGen:C2676137;OMIM:105650;Orphanet:124 2003-06-15 1 0 +19 38979992 AAG A 38979995 38979996 + Haplotype 29876 RCV000022757 SCV000044046 38831 RYR1 NM_000540.2:c.5726_5727delAG NP_000531.2:p.Glu1909Glyfs NM_000540.2:c.5726_5727delAG:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 2010 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 0 0 +19 38994959 C T 38994959 38994959 + Haplotype 12985 RCV000013857 SCV000034104 28024 RYR1 NM_000540.2:c.8026C>T NP_000531.2:p.Arg2676Trp NM_000540.2:c.8026C>T:missense variant Uncertain significance risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 02, 2013 OMIM OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627;14870754;16163667;16917943;20301325;23788249;25356965;27854360 germline GeneReviews:NBK1146;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 2004-01-01 0 0 +19 38995998 C G 38995998 38995998 + Haplotype 12985 RCV000013857 SCV000034104 38459 RYR1 NM_000540.2:c.8360C>G NP_000531.2:p.Thr2787Ser NM_000540.2:c.8360C>G:missense variant Benign/Likely benign risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 10, 2017 OMIM OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627;14870754;16163667;16917943;20301325;23788249;25356965;27854360 germline GeneReviews:NBK1146;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 2004-01-01 0 0 +19 39002893 T C 39002893 39002893 + Haplotype 29876 RCV000022757 SCV000044046 51078 RYR1 NM_000540.2:c.9242T>C NP_000531.2:p.Met3081Thr NM_000540.2:c.9242T>C:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Aug 08, 2017 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 1 1 +19 39013851 C G 39013851 39013851 + Haplotype 65396 RCV000022758 SCV000044047 70540 RYR1 NM_000540.2:c.10348-6C>G NM_000540.2:c.10348-6C>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 11, 2017 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 18253926;20301467;20839240;22009146;23788249;27854218;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 0 0 +19 39071022 G A 39071022 39071022 + Haplotype 65396 RCV000022758 SCV000044047 38832 RYR1 NM_000540.2:c.14524G>A NP_000531.2:p.Val4842Met NM_000540.2:c.14524G>A:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jul 11, 2017 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 18253926;20301467;20839240;22009146;23788249;27854218;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 1 0 +19 42364887 G T 42364887 42364887 + Haplotype 6319 RCV000033188 SCV000057024 21358 RPS19 NM_001022.3:c.43G>T NP_001013.1:p.Val15Phe NM_001022.3:c.43G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 03, 2015 OMIM OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610;20301769 germline GeneReviews:NBK7047;Genetic Alliance:Diamond-Blackfan+anemia+1/8226;MedGen:C2676137;OMIM:105650;Orphanet:124 2003-06-15 0 0 +19 42365273 C T 42365273 42365273 + Haplotype 6319 RCV000033188 SCV000057024 38387 RPS19 NM_001022.3:c.164C>T NP_001013.1:p.Thr55Met NM_001022.3:c.164C>T:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Feb 13, 2017 OMIM OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610;20301769 germline GeneReviews:NBK7047;Genetic Alliance:Diamond-Blackfan+anemia+1/8226;MedGen:C2676137;OMIM:105650;Orphanet:124 2003-06-15 1 0 +19 45411064 G A 45411064 45411064 + Haplotype 441264 RCV000019443 SCV000039733 32899 APOE NM_000041.3:c.91G>A NP_000032.1:p.Glu31Lys NM_000041.3:c.91G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Nov 01, 1992 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA 1361196;1674745;22962670 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1992-11-01 0 0 +19 45411110 T C 45411110 45411110 + Haplotype 441268 RCV000019456 SCV000039746 32909 APOE NM_000041.3:c.137T>C NP_000032.1:p.Leu46Pro NM_000041.3:c.137T>C:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Feb 15, 2017 OMIM OMIM APOE4(-)-FREIBURG;APOE4(-)-FREIBURG 21500874 germline OMIM:107741.0023 2017-02-15 1 0 +19 45411858 C G 45411858 45411858 + Haplotype 441269 RCV000019458 SCV000039748 32911 APOE NM_000041.3:c.305C>G NP_000032.1:p.Pro102Arg NM_000041.3:c.305C>G:missense variant - association 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 10, 2018 OMIM OMIM APOE4 VARIANT;APOE4 VARIANT 18583979;21500874;2341812;3585172 germline OMIM:107741.0025;OMIM:107741.0028 2018-01-10 0 0 +19 45411902 G A 45411902 45411902 + Haplotype 441270 RCV000019459 SCV000039749 32912 APOE NM_000041.3:c.349G>A NP_000032.1:p.Ala117Thr NM_000041.3:c.349G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 2008 OMIM OMIM APOE3 VARIANT;APOE3 VARIANT 18583979;6327682 germline OMIM:107741.0026 2008-07-01 0 0 +19 45411941 T C 45411941 45411941 + Haplotype 440870;441267;441268;441269 RCV000019438;RCV000019455;RCV000019456;RCV000019458 SCV000039727;SCV000039745;SCV000039746;SCV000039748 32903 APOE NM_000041.3:c.388T>C NP_000032.1:p.Cys130Arg NM_000041.3:c.388T>C:missense variant Pathogenic, other pathogenic;association 3 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 10, 2018 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4;APOE4(-)-FREIBURG;APOE4 VARIANT 1730728;21500874;22962670;25333069;2539388;6860421;8488843;18583979;2341812;3585172 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005;OMIM:107741.0023;OMIM:107741.0025;OMIM:107741.0028 2017-02-14;1993-05-01;2017-02-15;2018-01-10 0 0 +19 45411987 G A 45411987 45411987 + Haplotype 441262 RCV000019439 SCV000039729 32895 APOE NM_000041.3:c.434G>A NP_000032.1:p.Gly145Asp NM_000041.3:c.434G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 01, 1984 OMIM OMIM Apolipoproteinemia E1;APOLIPOPROTEINEMIA E1 6323533 germline 1984-04-01 0 0 +19 45412031 C T 45412031 45412031 + Haplotype 440870 RCV000019438 SCV000039727 38488 APOE NM_000041.3:c.478C>T NP_000032.1:p.Arg160Cys NM_000041.3:c.478C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 14, 2017 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT 1730728;21500874;22962670;25333069;2539388;6860421 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 2017-02-14 0 0 +19 45412040 C T 45412040 45412040 + Haplotype 441264 RCV000019443 SCV000039733 32890 APOE NM_000041.3:c.487C>T NP_000032.1:p.Arg163Cys NM_000041.3:c.487C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 1992 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA 1361196;1674745;22962670 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1992-11-01 0 0 +19 45412061 G C 45412061 45412061 + Haplotype 441270 RCV000019459 SCV000039749 38495 APOE NM_000041.3:c.508G>C NP_000032.1:p.Ala170Pro NM_000041.3:c.508G>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 2008 OMIM OMIM APOE3 VARIANT;APOE3 VARIANT 18583979;6327682 germline OMIM:107741.0026 2008-07-01 0 0 +19 45412079 C T 45412079 45412079 + Haplotype 441262;441265;441266 RCV000019439;RCV000019452;RCV000019454 SCV000039729;SCV000039741;SCV000039744 32887 APOE NM_000041.3:c.526C>T NP_000032.1:p.Arg176Cys NM_000041.3:c.526C>T:missense variant drug response pathogenic 3 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 21, 2017 OMIM OMIM Apolipoproteinemia E1;APOLIPOPROTEINEMIA E1;Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2 6323533;22962670;8664327;8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1984-04-01;2017-02-21;1993-05-01 0 0 +19 45412278 G A 45412278 45412278 + Haplotype 441265 RCV000019452 SCV000039741 38490 APOE NM_000041.3:c.725G>A NP_000032.1:p.Arg242Gln NM_000041.3:c.725G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 21, 2017 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III 22962670;8664327 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 2017-02-21 0 0 +19 45412314 T A 45412314 45412314 + Haplotype 441266 RCV000019454 SCV000039744 38491 APOE NM_000041.3:c.761T>A NP_000032.1:p.Val254Glu NM_000041.3:c.761T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 1993 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2 22962670;8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1993-05-01 0 0 +19 45412337 G A 45412337 45412337 + Haplotype 441263 RCV000019435 SCV000039725 32893 APOE NM_000041.3:c.784G>A NP_000032.1:p.Glu262Lys NM_000041.3:c.784G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 01, 1995 OMIM OMIM HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7;HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7 2470732;2738044;6480826;7586659 germline OMIM:107741.0007 1995-08-01 0 0 +19 45412340 G A 45412340 45412340 + Haplotype 441263 RCV000019435 SCV000039725 38487 APOE NM_000041.3:c.787G>A NP_000032.1:p.Glu263Lys NM_000041.3:c.787G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 01, 1995 OMIM OMIM HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7;HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7 2470732;2738044;6480826;7586659 germline OMIM:107741.0007 1995-08-01 0 0 +19 45412358 C G 45412358 45412358 + Haplotype 441267 RCV000019455 SCV000039745 38492 APOE NM_000041.3:c.805C>G NP_000032.1:p.Arg269Gly NM_000041.3:c.805C>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 1993 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4 21500874;22962670;8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1993-05-01 0 0 19 47258781 C A 47258781 47258781 + Phase unknown 224674 RCV000226653 SCV000265787 226485 FKRP NM_024301.4:c.74C>A NP_077277.1:p.Ser25Ter NM_024301.4:c.74C>A:nonsense - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Dec 01, 2015 Center for Genetic Medicine Research,Children's National Medical Center Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;MedGen:C1846672;OMIM:606596.0004;OMIM:606596.0005;OMIM:606596.0006;OMIM:606596.0011;OMIM:606596.0012;OMIM:606596.0013;OMIM:606596.0014;OMIM:606596.0015;OMIM:606596.0016;OMIM:607155;Orphanet:34515 2015-12-01 0 0 19 47258781 CGT C 47258783 47258784 + Phase unknown 224674 RCV000226653 SCV000265787 226486 FKRP NM_024301.4:c.76_77delTG NP_077277.1:p.Trp26Alafs NM_024301.4:c.76_77delTG:frameshift variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Dec 01, 2015 Center for Genetic Medicine Research,Children's National Medical Center Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;MedGen:C1846672;OMIM:606596.0004;OMIM:606596.0005;OMIM:606596.0006;OMIM:606596.0011;OMIM:606596.0012;OMIM:606596.0013;OMIM:606596.0014;OMIM:606596.0015;OMIM:606596.0016;OMIM:607155;Orphanet:34515 2015-12-01 0 0 -19 47259533 C A 47259533 47259533 + Phase unknown 224674 RCV000226653 SCV000265787 19260 FKRP NM_024301.4:c.826C>A NP_077277.1:p.Leu276Ile NM_024301.4:c.826C>A:missense variant Pathogenic likely pathogenic 0 1 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 18, 2017 Center for Genetic Medicine Research,Children's National Medical Center Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;MedGen:C1846672;OMIM:606596.0004;OMIM:606596.0005;OMIM:606596.0006;OMIM:606596.0011;OMIM:606596.0012;OMIM:606596.0013;OMIM:606596.0014;OMIM:606596.0015;OMIM:606596.0016;OMIM:607155;Orphanet:34515 2015-12-01 2 0 -20 4680251 A G 4680251 4680251 + Haplotype 13399 RCV000014336;RCV000014337 SCV000034585;SCV000034586 28436 PRNP NM_000311.4:c.385A>G NP_000302.1:p.Met129Val NM_000311.4:c.385A>G:missense variant;NM_001271561.1:c.*74A>G:3 prime UTR variant Benign/Likely benign, risk factor pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 14, 2016 OMIM OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE;Fatal familial insomnia 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20298421;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008 2008-11-26 1 0 -20 4680398 G A 4680398 4680398 + Haplotype 13399 RCV000014336;RCV000014337 SCV000034585;SCV000034586 28438 PRNP NM_000311.4:c.532G>A NP_000302.1:p.Asp178Asn NM_000311.4:c.532G>A:missense variant;NM_001271561.1:c.*221G>A:3 prime UTR variant Pathogenic pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 05, 2010 OMIM OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE;Fatal familial insomnia 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20298421;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008 2008-11-26 0 0 -20 10393439 C A 10393439 10393439 - Haplotype 5308 RCV000005632 SCV000025814 38435 MKKS NM_170784.2:c.724G>T NP_740754.1:p.Ala242Ser NM_170784.2:c.724G>T:missense variant;NR_072977.1:n.364-3988G>T:intron variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 25, 2017 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 0 1 -20 10393913 G A 10393913 10393913 - Haplotype 5308 RCV000005632 SCV000025814 20347 MKKS NM_170784.2:c.250C>T NP_740754.1:p.His84Tyr NM_170784.2:c.250C>T:missense variant;NR_072977.1:n.364-4462C>T:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 15, 2005 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 0 0 +19 47259533 C A 47259533 47259533 + Phase unknown 224674 RCV000226653 SCV000265787 19260 FKRP NM_024301.4:c.826C>A NP_077277.1:p.Leu276Ile NM_024301.4:c.826C>A:missense variant Pathogenic likely pathogenic 0 1 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 07, 2017 Center for Genetic Medicine Research,Children's National Medical Center Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;MedGen:C1846672;OMIM:606596.0004;OMIM:606596.0005;OMIM:606596.0006;OMIM:606596.0011;OMIM:606596.0012;OMIM:606596.0013;OMIM:606596.0014;OMIM:606596.0015;OMIM:606596.0016;OMIM:607155;Orphanet:34515 2015-12-01 2 0 +19 49468583 C T 49468583 49468583 + Haplotype 441527 RCV000017941 SCV000038220 31516 FTL NM_000146.3:c.-182C>T NM_000146.3:c.-182C>T:5 prime UTR variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 19, 2013 OMIM OMIM Hyperferritinemia cataract syndrome;HYPERFERRITINEMIA WITH OR WITHOUT CATARACT 23421845;9226182 germline Genetic Alliance:Hyperferritinemia+cataract+syndrome/3553;Genetics Home Reference:hyperferritinemia-cataract-syndrome;MedGen:C1833213;OMIM:134790.0001;OMIM:134790.0002;OMIM:134790.0003;OMIM:134790.0004;OMIM:134790.0005;OMIM:134790.0006;OMIM:134790.0007;OMIM:134790.0008;OMIM:134790.0009;OMIM:134790.0011;OMIM:134790.0012;OMIM:134790.0017;OMIM:134790.0020;OMIM:600886;Office of Rare Diseases:2806;Orphanet:163 2013-02-19 0 0 +19 49468587 T G 49468587 49468587 + Haplotype 441527 RCV000017941 SCV000038220 260732 FTL NM_000146.3:c.-178T>G NM_000146.3:c.-178T>G:5 prime UTR variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 19, 2013 OMIM OMIM Hyperferritinemia cataract syndrome;HYPERFERRITINEMIA WITH OR WITHOUT CATARACT 23421845;9226182 germline Genetic Alliance:Hyperferritinemia+cataract+syndrome/3553;Genetics Home Reference:hyperferritinemia-cataract-syndrome;MedGen:C1833213;OMIM:134790.0001;OMIM:134790.0002;OMIM:134790.0003;OMIM:134790.0004;OMIM:134790.0005;OMIM:134790.0006;OMIM:134790.0007;OMIM:134790.0008;OMIM:134790.0009;OMIM:134790.0011;OMIM:134790.0012;OMIM:134790.0017;OMIM:134790.0020;OMIM:600886;Office of Rare Diseases:2806;Orphanet:163 2013-02-19 0 0 +19 49519883 A G 49519883 49519883 - Haplotype 441529 RCV000015495 SCV000035760 38465 LHB NM_000894.2:c.104T>C NP_000885.1:p.Ile35Thr NM_000894.2:c.104T>C:missense variant - benign 0 0 0 0 1 no assertion for the individual variant no assertion criteria provided Mar 01, 2003 OMIM OMIM LUTEINIZING HORMONE POLYMORPHISM;LUTEINIZING HORMONE POLYMORPHISM 10199775;10323405;10468997;12620433;1727817;7714098;7904610;8784083 germline OMIM:152780.0002 2003-03-01 0 0 +19 49519905 A G 49519905 49519905 - Haplotype 441529 RCV000015495 SCV000035760 29453 LHB NM_000894.2:c.82T>C NP_000885.1:p.Trp28Arg NM_000894.2:c.82T>C:missense variant - benign 0 0 0 0 1 no assertion for the individual variant no assertion criteria provided Mar 01, 2003 OMIM OMIM LUTEINIZING HORMONE POLYMORPHISM;LUTEINIZING HORMONE POLYMORPHISM 10199775;10323405;10468997;12620433;1727817;7714098;7904610;8784083 germline OMIM:152780.0002 2003-03-01 0 0 +20 4680251 A G 4680251 4680251 + Haplotype 13399;453225;453226 RCV000014337;RCV000032588;RCV000014336 SCV000034586;SCV000034587;SCV000034585 28436 PRNP NM_000311.4:c.385A>G NP_000302.1:p.Met129Val NM_000311.4:c.385A>G:missense variant;NM_001271561.1:c.*74A>G:3 prime UTR variant Benign/Likely benign, risk factor pathogenic 3 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Fatal familial insomnia;FATAL FAMILIAL INSOMNIA;Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20301407;7709737;9751723;1347910;1357594;14732629;15623717;15806397;20038778;7630420;7783865;8105681;20298421 germline GeneReviews:NBK1229;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004 2008-11-26;2010-01-05 0 0 +20 4680398 G A 4680398 4680398 + Haplotype 13399;453225;453226 RCV000014337;RCV000032588;RCV000014336 SCV000034586;SCV000034587;SCV000034585 28438 PRNP NM_000311.4:c.532G>A NP_000302.1:p.Asp178Asn NM_000311.4:c.532G>A:missense variant;NM_001271561.1:c.*221G>A:3 prime UTR variant Pathogenic pathogenic 3 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 05, 2010 OMIM OMIM Fatal familial insomnia;FATAL FAMILIAL INSOMNIA;Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20301407;7709737;9751723;1347910;1357594;14732629;15623717;15806397;20038778;7630420;7783865;8105681;20298421 germline GeneReviews:NBK1229;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004 2008-11-26;2010-01-05 0 0 +20 10393439 C A 10393439 10393439 - Haplotype 448914 RCV000005632 SCV000025814 38435 MKKS NM_170784.2:c.724G>T NP_740754.1:p.Ala242Ser NM_170784.2:c.724G>T:missense variant;NR_072977.1:n.364-3988G>T:intron variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Aug 15, 2017 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 1 1 +20 10393913 G A 10393913 10393913 - Haplotype 448914 RCV000005632 SCV000025814 20347 MKKS NM_170784.2:c.250C>T NP_740754.1:p.His84Tyr NM_170784.2:c.250C>T:missense variant;NR_072977.1:n.364-4462C>T:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 15, 2005 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 0 0 20 39742755 A G 39742755 39742755 + Haplotype 16773 RCV000018261 SCV000038540 31812 TOP1 NM_003286.3:c.1598A>G NP_003277.1:p.Asp533Gly NM_003286.3:c.1598A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 11, 1991 OMIM OMIM DNA topoisomerase I, camptothecin-resistant;DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT 1849260 germline MedGen:C4016020 1991-01-11 0 0 20 43255143 G C 43255143 43255143 - Haplotype 1981 RCV000002058 SCV000022216 38420 ADA NM_000022.3:c.316C>G NP_001308979.1:p.Thr9= NM_000022.3:c.316C>G:missense variant;NM_001322050.1:c.27C>G:synonymous variant;NR_136160.1:n.467C>G:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 01, 1997 OMIM OMIM Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency;SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY 3304460;9361033 germline MedGen:C0392607 1997-12-01 0 0 20 43255169 T C 43255169 43255169 - Haplotype 1981 RCV000002058 SCV000022216 17020 ADA NM_000022.3:c.290A>G NP_000013.2:p.Tyr97Cys NM_000022.3:c.290A>G:missense variant;NR_136160.1:n.441A>G:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 01, 1997 OMIM OMIM Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency;SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY 3304460;9361033 germline MedGen:C0392607 1997-12-01 0 0 -20 62044831 G T 62044831 62044831 Haplotype 369808 RCV000408720 SCV000484644 390693 NM_172107.3:c.1735C>A NP_742105.1:p.Leu579Met NM_172107.3:c.1735C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 31, 2016 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 0 0 -20 62044832 C T 62044832 62044832 Haplotype 369808 RCV000408720 SCV000484644 390692 NM_172107.3:c.1734G>A NP_742105.1:p.Met578Ile NM_172107.3:c.1734G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 31, 2016 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 0 0 +20 62044831 G T 62044831 62044831 - Haplotype 369808 RCV000408720 SCV000484644 390693 KCNQ2 NM_172107.3:c.1735C>A NP_742105.1:p.Leu579Met NM_172107.3:c.1735C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 31, 2016 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 0 0 +20 62044831 GC TT 62044831 62044832 - Haplotype 369808 RCV000408720 SCV000484644 203721 KCNQ2 NM_172107.3:c.1734_1735delGCinsAA NP_742105.1:p.Met578_Leu579delinsIleMet NM_172107.3:c.1734_1735delGCinsAA:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 31, 2016 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 0 0 +20 62044832 C T 62044832 62044832 - Haplotype 369808 RCV000408720 SCV000484644 390692 KCNQ2 NM_172107.3:c.1734G>A NP_742105.1:p.Met578Ile NM_172107.3:c.1734G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 31, 2016 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 0 0 21 34951753 T G 34951753 34951753 - Haplotype 431417 RCV000496974 SCV000588191 424961 DONSON NM_017613.3:c.1466A>C NP_060083.1:p.Lys489Thr NM_017613.3:c.1466A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 04, 2017 OMIM OMIM MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES;MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 28191891 germline MedGen:CN373593;OMIM:611428.0001;OMIM:611428.0002;OMIM:611428.0003;OMIM:611428.0004;OMIM:611428.0005;OMIM:611428.0006;OMIM:611428.0007;OMIM:617604 2017-08-04 0 0 21 34956005 T C 34956005 34956005 - Haplotype 431417 RCV000496974 SCV000588191 424940 DONSON NM_017613.3:c.786-33A>G NM_017613.3:c.786-33A>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 04, 2017 OMIM OMIM MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES;MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 28191891 germline MedGen:CN373593;OMIM:611428.0001;OMIM:611428.0002;OMIM:611428.0003;OMIM:611428.0004;OMIM:611428.0005;OMIM:611428.0006;OMIM:611428.0007;OMIM:617604 2017-08-04 0 0 21 34960866 T G 34960866 34960866 - Haplotype 431417 RCV000496974 SCV000588191 424962 DONSON NM_017613.3:c.82A>C NP_060083.1:p.Ser28Arg NM_017613.3:c.82A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 04, 2017 OMIM OMIM MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES;MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 28191891 germline MedGen:CN373593;OMIM:611428.0001;OMIM:611428.0002;OMIM:611428.0003;OMIM:611428.0004;OMIM:611428.0005;OMIM:611428.0006;OMIM:611428.0007;OMIM:617604 2017-08-04 0 0 21 37833740 A T 37833740 37833740 - Haplotype 375673 RCV000417144 SCV000494729 19890 CLDN14 NM_012130.3:c.254T>A NP_036262.1:p.Val85Asp NM_001146077.1:c.254T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 30, 2016 Laboratory of Molecular Genetics,National Institutes of Health Laboratory of Molecular Genetics,National Institutes of Health Perrault Syndrome;Deafness;Primary ovarian insufficiency;Perrault Syndrome germline Illumina Clinical Services Laboratory,Illumina:37522;MedGen:CN239459 2016-08-30 0 0 21 47551895 G A 47551895 47551895 + Haplotype 29642 RCV000022490 SCV000043779 38596 COL6A2 NM_001849.3:c.2489G>A NP_001840.3:p.Arg830Gln NM_001849.3:c.2489G>A:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 08, 2015 OMIM OMIM BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE;BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE 18852439;19949035 germline OMIM:120240.0011;OMIM:120240.0017;OMIM:120240.0018;OMIM:120240.0019 2009-12-01 0 1 -21 47551933 C T 47551933 47551933 + Haplotype 29642 RCV000022490 SCV000043779 38597 COL6A2 NM_001849.3:c.2527C>T NP_001840.3:p.Arg843Trp NM_001849.3:c.2527C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Sep 13, 2016 OMIM OMIM BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE;BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE 18852439;19949035 germline OMIM:120240.0011;OMIM:120240.0017;OMIM:120240.0018;OMIM:120240.0019 2009-12-01 1 0 +21 47551933 C T 47551933 47551933 + Haplotype 29642 RCV000022490 SCV000043779 38597 COL6A2 NM_001849.3:c.2527C>T NP_001840.3:p.Arg843Trp NM_001849.3:c.2527C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 13, 2016 OMIM OMIM BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE;BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE 18852439;19949035 germline OMIM:120240.0011;OMIM:120240.0017;OMIM:120240.0018;OMIM:120240.0019 2009-12-01 0 0 22 24109650 C G 24109650 24109650 - Haplotype 180222;204293 RCV000157071;RCV000192234 SCV000206796;SCV000239873 178410 CHCHD10 NM_213720.2:c.172G>C NP_998885.1:p.Gly58Arg NM_213720.2:c.172G>C:missense variant;NR_125755.1:n.217G>C:non-coding transcript variant;NR_125756.1:n.139+371G>C:intron variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 14, 2015 OMIM;GeneReviews OMIM;GeneReviews Myopathy, isolated mitochondrial, autosomal dominant;MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (1 family) 25193783;26131548;9324076;2519378 germline GeneReviews:NBK304142;MedGen:C4015513;OMIM:616209;Orphanet:457050 2015-01-01;2015-04-14 0 0 22 24109779 G C 24109779 24109779 - Haplotype 204293 RCV000192234 SCV000239873 200690 CHCHD10 NM_213720.2:c.43C>G NP_998885.1:p.Arg15Gly NM_213720.2:c.43C>G:missense variant;NR_125755.1:n.140-52C>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 14, 2015 GeneReviews GeneReviews Myopathy, isolated mitochondrial, autosomal dominant;Myopathy, isolated mitochondrial, autosomal dominant 2519378;26131548 germline GeneReviews:NBK304142;MedGen:C4015513;OMIM:616209;Orphanet:457050 2015-04-14 0 0 22 24109779 G T 24109779 24109779 - Haplotype 180222 RCV000157071 SCV000206796 178409 CHCHD10 NM_213720.2:c.43C>A NP_998885.1:p.Arg15Ser NM_213720.2:c.43C>A:missense variant;NR_125755.1:n.140-52C>A:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 02, 2015 OMIM OMIM Myopathy, isolated mitochondrial, autosomal dominant;MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (1 family) 25193783;26131548;9324076 germline GeneReviews:NBK304142;MedGen:C4015513;OMIM:616209;Orphanet:457050 2015-01-01 0 0 22 25625439 C A 25625439 25625439 + Haplotype 217348 RCV000203383 SCV000256031 214001 CRYBB2 NM_000496.2:c.343C>A NP_000487.1:p.Pro115Thr NM_000496.2:c.343C>A:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 09, 2015 Eye Genetics Research Group,Children's Medical Research Institute Eye Genetics Research Group,Children's Medical Research Institute Congenital cataract 26694549 de novo Human Phenotype Ontology:HP:0000519;Human Phenotype Ontology:HP:0001108;Human Phenotype Ontology:HP:0007679;Human Phenotype Ontology:HP:0007726;Human Phenotype Ontology:HP:0007788;MedGen:C1842324 2015-01-09 0 0 -22 25625451 G A 25625451 25625451 + Haplotype 217348 RCV000203383 SCV000256031 214002 CRYBB2 NM_000496.2:c.355G>A NP_000487.1:p.Gly119Arg NM_000496.2:c.355G>A:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 09, 2015 Eye Genetics Research Group,Children's Medical Research Institute Eye Genetics Research Group,Children's Medical Research Institute Congenital cataract 26694549 de novo Human Phenotype Ontology:HP:0000519;Human Phenotype Ontology:HP:0001108;Human Phenotype Ontology:HP:0007679;Human Phenotype Ontology:HP:0007726;Human Phenotype Ontology:HP:0007788;MedGen:C1842324 2015-01-09 0 0 -22 36661906 A G 36661906 36661906 + Haplotype 6080 RCV000006453 SCV000026636 21119 APOL1 NM_145343.2:c.1072A>G NP_663318.1:p.Ser358Gly NM_145343.2:c.1072A>G:missense variant not provided risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 09, 2014 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-10-25 0 0 -22 36662034 T G 36662034 36662034 + Haplotype 6080 RCV000006453 SCV000026636 76004 APOL1 NM_145343.2:c.1200T>G NP_663318.1:p.Ile400Met NM_145343.2:c.1200T>G:missense variant not provided risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 09, 2014 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-10-25 0 0 +22 25625451 G A 25625451 25625451 + Haplotype 217348 RCV000203383 SCV000256031 214002 CRYBB2 NM_000496.2:c.355G>A NP_000487.1:p.Gly119Arg NM_000496.2:c.355G>A:missense variant Pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter no assertion criteria provided Jul 10, 2017 Eye Genetics Research Group,Children's Medical Research Institute Eye Genetics Research Group,Children's Medical Research Institute Congenital cataract 26694549 de novo Human Phenotype Ontology:HP:0000519;Human Phenotype Ontology:HP:0001108;Human Phenotype Ontology:HP:0007679;Human Phenotype Ontology:HP:0007726;Human Phenotype Ontology:HP:0007788;MedGen:C1842324 2015-01-09 1 0 +22 36661906 A G 36661906 36661906 + Haplotype 6080 RCV000006453 SCV000026636 21119 APOL1 NM_145343.2:c.1072A>G NP_663318.1:p.Ser358Gly NM_145343.2:c.1072A>G:missense variant not provided risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 09, 2014 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-08-13 0 0 +22 36662034 T G 36662034 36662034 + Haplotype 6080 RCV000006453 SCV000026636 76004 APOL1 NM_145343.2:c.1200T>G NP_663318.1:p.Ile400Met NM_145343.2:c.1200T>G:missense variant not provided risk factor 0 0 0 0 0 no assertion provided no assertion criteria provided Dec 09, 2014 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-08-13 0 0 22 40757623 G C 40757623 40757623 + Haplotype 208488 RCV000190501 SCV000245387 205025 ADSL NM_000026.3:c.994G>C NP_000017.1:p.Asp332His NM_000026.3:c.994G>C:missense variant;NR_134256.1:n.1053G>C:non-coding transcript variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 17, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Adenylosuccinate lyase deficiency;Adenylosuccinate lyase deficiency 10090474;23519317 germline Genetic Alliance:Adenylosuccinase+Deficiency/230;MedGen:C0268126;OMIM:103050;Office of Rare Diseases:550;Orphanet:46;SNOMED CT:15285008 2014-02-17 0 0 -22 40760969 G A 40760969 40760969 + Haplotype 208488 RCV000190501 SCV000245387 17501 ADSL NM_000026.3:c.1277G>A NP_000017.1:p.Arg426His NM_000026.3:c.1277G>A:missense variant;NM_001123378.1:c.1191+600G>A:intron variant;NR_134256.1:n.1367G>A:non-coding transcript variant Pathogenic likely pathogenic 0 1 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Feb 13, 2017 Mendelics Analise Genomica Mendelics Analise Genomica Adenylosuccinate lyase deficiency;Adenylosuccinate lyase deficiency 10090474;23519317 germline Genetic Alliance:Adenylosuccinase+Deficiency/230;MedGen:C0268126;OMIM:103050;Office of Rare Diseases:550;Orphanet:46;SNOMED CT:15285008 2014-02-17 2 0 +22 40760969 G A 40760969 40760969 + Haplotype 208488 RCV000190501 SCV000245387 17501 ADSL NM_000026.3:c.1277G>A NP_000017.1:p.Arg426His NM_000026.3:c.1277G>A:missense variant;NM_001123378.1:c.1191+600G>A:intron variant;NR_134256.1:n.1367G>A:non-coding transcript variant Pathogenic likely pathogenic 0 1 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Sep 12, 2017 Mendelics Analise Genomica Mendelics Analise Genomica Adenylosuccinate lyase deficiency;Adenylosuccinate lyase deficiency 10090474;23519317 germline Genetic Alliance:Adenylosuccinase+Deficiency/230;MedGen:C0268126;OMIM:103050;Office of Rare Diseases:550;Orphanet:46;SNOMED CT:15285008 2014-02-17 2 0 X 13768812 TCTCAAACACTTGGG T 13768818 13768831 Haplotype 11542 RCV000012298 SCV000032532 76962 NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 2004 OMIM OMIM Oral-facial-digital syndrome;OROFACIODIGITAL SYNDROME I 15221448;20301367 germline GeneReviews:NBK1188;Genetic Alliance:Orofaciodigital+syndromes/5428;MedGen:C1510460;OMIM:311200;Office of Rare Diseases:4121;Orphanet:2750;SNOMED CT:52868006 2004-07-01 0 0 X 22112123 T C 22112123 22112123 + Haplotype 10818 RCV000011565 SCV000031797 25857 PHEX NM_000444.5:c.755T>C NP_000435.3:p.Phe252Ser NM_000444.5:c.755T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 01, 1997 OMIM OMIM Familial X-linked hypophosphatemic vitamin D refractory rickets;HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 22319799;7550339;9106524 germline GeneReviews:NBK83985;Genetic Alliance:Familial+Hypophosphatemic+Rickets/2752;MedGen:C0733682;OMIM:307800;Office of Rare Diseases:6735;Orphanet:89936;SNOMED CT:82236004 1997-04-01 0 0 X 22112127 G A 22112127 22112127 + Haplotype 10818 RCV000011565 SCV000031797 38453 PHEX NM_000444.5:c.759G>A NP_000435.3:p.Met253Ile NM_000444.5:c.759G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 01, 1997 OMIM OMIM Familial X-linked hypophosphatemic vitamin D refractory rickets;HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 22319799;7550339;9106524 germline GeneReviews:NBK83985;Genetic Alliance:Familial+Hypophosphatemic+Rickets/2752;MedGen:C0733682;OMIM:307800;Office of Rare Diseases:6735;Orphanet:89936;SNOMED CT:82236004 1997-04-01 0 0 -X 100658834 G A 100658834 100658834 - Haplotype 10723 RCV000011470 SCV000031702 38452 GLA NM_000169.2:c.334C>T NP_000160.1:p.Arg112Cys NM_000169.2:c.334C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 09, 2017 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 2 0 -X 100658972 C G 100658972 100658972 - Haplotype 10723 RCV000011470 SCV000031702 25762 GLA NM_000169.2:c.196G>C NP_000160.1:p.Glu66Gln NM_000169.2:c.196G>C:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 24, 2013 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 0 0 +X 100658834 G A 100658834 100658834 - Haplotype 10723 RCV000011470 SCV000031702 38452 GLA NM_000169.2:c.334C>T NP_000160.1:p.Arg112Cys NM_000169.2:c.334C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 09, 2017 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetic Testing Registry (GTR):GTR000558532;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 2 0 +X 100658972 C G 100658972 100658972 - Haplotype 10723 RCV000011470 SCV000031702 25762 GLA NM_000169.2:c.196G>C NP_000160.1:p.Glu66Gln NM_000169.2:c.196G>C:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 24, 2013 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetic Testing Registry (GTR):GTR000558532;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 0 0 X 107823943 G T 107823943 107823943 + Haplotype 10464 RCV000011210 SCV000031437 35671 COL4A5 NM_033380.2:c.866G>T NP_203699.1:p.Gly289Val NM_000495.4:c.866G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Dec 04, 2012 OMIM OMIM Alport syndrome, X-linked recessive;ALPORT SYNDROME, X-LINKED 20301386;22166944;7706490;9195222 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome/335;MedGen:C1567742;OMIM:301050;Orphanet:63;Orphanet:88917 1995-04-01 0 0 X 107929326 C T 107929326 107929326 + Haplotype 10464 RCV000011210 SCV000031437 38451 COL4A5 NM_033380.2:c.4282C>T NP_203699.1:p.Arg1428Cys NM_000495.4:c.4264C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 01, 1995 OMIM OMIM Alport syndrome, X-linked recessive;ALPORT SYNDROME, X-LINKED 20301386;22166944;7706490;9195222 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome/335;MedGen:C1567742;OMIM:301050;Orphanet:63;Orphanet:88917 1995-04-01 0 0 X 135738552 T A 135738552 135738552 + Haplotype 11158 RCV000011908 SCV000032141 26197 CD40LG NM_000074.2:c.384T>A NP_000065.1:p.Ser128Arg NM_000074.2:c.384T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 29, 1993 OMIM OMIM Immunodeficiency with hyper IgM type 1;IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 20301576;7678782 germline GeneReviews:NBK1402;Genetic Alliance:Immunodeficiency+with+hyper+IgM+type+1/3776;MedGen:C0398689;OMIM:308230;Office of Rare Diseases:73 1993-01-29 0 0 @@ -474,9 +541,9 @@ X 148564464 C G 148564464 148564464 - Haplotype 10502 RCV000011248 SCV000031475 X 148564466 C A 148564466 148564466 - Haplotype 10502 RCV000011248 SCV000031475 38394 IDS NM_000202.7:c.1464G>T NP_000193.1:p.Met488Ile NM_000202.7:c.1464G>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 2003 OMIM OMIM Mucopolysaccharidosis, MPS-II;MUCOPOLYSACCHARIDOSIS, TYPE II 12794697;20301451;21863056;25071396 germline GeneReviews:NBK1274;Genetic Alliance:Mucopolysaccharidosis+type+II/4913;MedGen:C0026705;OMIM:309900;Orphanet:580;SNOMED CT:70737009 2003-07-01 0 0 X 148564527 C T 148564527 148564527 - Haplotype 221203 RCV000204179 SCV000262516 25537 IDS NM_000202.7:c.1403G>A NP_000193.1:p.Arg468Gln NM_000202.7:c.1403G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 25, 2013 LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata Mucopolysaccharidosis, MPS-II 18414213;20301451;21863056;25071396 maternal GeneReviews:NBK1274;Genetic Alliance:Mucopolysaccharidosis+type+II/4913;MedGen:C0026705;OMIM:309900;Orphanet:580;SNOMED CT:70737009 2007-05-16 2 0 X 148564536 T A 148564536 148564536 - Haplotype 221203 RCV000204179 SCV000262516 222899 IDS NM_000202.7:c.1394A>T NP_000193.1:p.Gln465Leu NM_000202.7:c.1394A>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter May 16, 2007 LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata Mucopolysaccharidosis, MPS-II 18414213;20301451;21863056;25071396 maternal GeneReviews:NBK1274;Genetic Alliance:Mucopolysaccharidosis+type+II/4913;MedGen:C0026705;OMIM:309900;Orphanet:580;SNOMED CT:70737009 2007-05-16 0 0 -X 153762605 G A 153762605 153762605 - Haplotype 10392 RCV000011127 SCV000031354 25430 G6PD NM_000402.4:c.682C>T NP_000393.4:p.Arg228Cys NM_001042351.2:c.592C>T:missense variant other pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Apr 18, 2013 OMIM OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664;4125296 germline MedGen:C4016535 1992-08-01 0 0 +X 153762605 G A 153762605 153762605 - Haplotype 10392 RCV000011127 SCV000031354 25430 G6PD NM_000402.4:c.682C>T NP_000393.4:p.Arg228Cys NM_001042351.2:c.592C>T:missense variant other pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided May 24, 2017 OMIM OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664;4125296 germline MedGen:C4016535 1992-08-01 0 0 X 153762653 G A 153762653 153762653 - Haplotype 10392 RCV000011127 SCV000031354 38393 G6PD NM_000402.4:c.634C>T NP_000393.4:p.Arg212Trp NM_001042351.2:c.544C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 01, 1992 OMIM OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664;4125296 germline MedGen:C4016535 1992-08-01 0 0 -X 153762655 T A 153762655 153762655 - Haplotype 10382 RCV000011109 SCV000031336 25421 G6PD NM_000402.4:c.632A>T NP_000393.4:p.Asp211Val NM_000402.4:c.632A>T:missense variant Pathogenic, other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 24, 2017 OMIM OMIM G6PD SANTAMARIA;G6PD SANTAMARIA 1978554;1999409;6433630;8956035 germline OMIM:305900.0023 2017-05-24 0 0 -X 153763492 T C 153763492 153763492 - Haplotype 10361;10382 RCV000011075;RCV000011076;RCV000011077;RCV000011078;RCV000011079;RCV000011109 SCV000031301;SCV000031303;SCV000031304;SCV000031305;SCV000031306;SCV000031336 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant Conflicting interpretations of pathogenicity, other pathogenic;other 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2017 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A-;G6PD BETICA;G6PD CASTILLA;G6PD DISTRITO FEDERAL;G6PD TEPIC;G6PD SANTAMARIA 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703;1999409;6433630;8956035 germline Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;Office of Rare Diseases:6520;OMIM:305900.0002;OMIM:305900.0023 2000-03-31;2017-05-24 0 1 +X 153762655 T A 153762655 153762655 - Haplotype 10382 RCV000011109 SCV000031336 25421 G6PD NM_000402.4:c.632A>T NP_000393.4:p.Asp211Val NM_000402.4:c.632A>T:missense variant Pathogenic, other other 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided May 24, 2017 OMIM OMIM G6PD SANTAMARIA;G6PD SANTAMARIA 1978554;1999409;6433630;8956035 germline OMIM:305900.0023 2017-05-24 2 0 +X 153763492 T C 153763492 153763492 - Haplotype 10361;10382 RCV000011075;RCV000011109 SCV000031301;SCV000031336 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant Conflicting interpretations of pathogenicity, other pathogenic;other 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 18, 2017 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A-;G6PD SANTAMARIA 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703;1999409;6433630;8956035 germline Genetic Alliance:G6pd+a-/8448;Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;OMIM:305900.0002;OMIM:305900.0027;OMIM:305900.0028;Office of Rare Diseases:6520;OMIM:305900.0023 2000-03-31;2017-05-24 0 1 X 153763551 G C 153763551 153763551 - Haplotype 10392 RCV000011127 SCV000031354 25431 G6PD NM_000402.4:c.407C>G NP_000393.4:p.Ser136Cys NM_001042351.2:c.317C>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 01, 1992 OMIM OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664;4125296 germline MedGen:C4016535 1992-08-01 0 0 -X 153764217 C T 153764217 153764217 - Haplotype 10361 RCV000011075;RCV000011076;RCV000011077;RCV000011078;RCV000011079 SCV000031301;SCV000031303;SCV000031304;SCV000031305;SCV000031306 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant drug response pathogenic;other 1 0 0 0 0 reviewed by expert panel no assertion criteria provided May 24, 2017 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A-;G6PD BETICA;G6PD CASTILLA;G6PD DISTRITO FEDERAL;G6PD TEPIC 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;Office of Rare Diseases:6520;OMIM:305900.0002 2000-03-31;2017-05-24 3 0 +X 153764217 C T 153764217 153764217 - Haplotype 10361 RCV000011075 SCV000031301 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant drug response pathogenic 1 0 0 0 0 reviewed by expert panel no assertion criteria provided Oct 18, 2017 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A- 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline Genetic Alliance:G6pd+a-/8448;Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;OMIM:305900.0002;OMIM:305900.0027;OMIM:305900.0028;Office of Rare Diseases:6520 2000-03-31 3 0 diff --git a/output/b37/multi/clinvar_alleles_example_750_rows.multi.b37.vcf b/output/b37/multi/clinvar_alleles_example_750_rows.multi.b37.vcf index 23f62a8..fb6e1c9 100644 --- a/output/b37/multi/clinvar_alleles_example_750_rows.multi.b37.vcf +++ b/output/b37/multi/clinvar_alleles_example_750_rows.multi.b37.vcf @@ -124,9 +124,9 @@ ##contig= ##reference=/Users/weisburd/hg19.fa #CHROM POS ID REF ALT QUAL FILTER INFO -1 7869953 . C G . . START=7869953;STOP=7869953;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=224889;RCV=RCV000210468;SCV=SCV000266565;ALLELE_ID=226735;SYMBOL=PER3;HGVS_C=NM_001289862.1:c.1243C>G;HGVS_P=NP_001276791.1:p.Pro415Ala;MOLECULAR_CONSEQUENCE=NM_001289862.1:c.1243C>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_23..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Advanced_sleep_phase_syndrome..familial..3|ADVANCED_SLEEP_PHASE_SYNDROME..FAMILIAL..3_(1_family);ALL_PMIDS=26903630;ORIGIN=germline;XREFS=MedGen:C4225169|OMIM:616882|Orphanet:164736;DATES_ORDERED=2016-10-17 +1 7869953 . C G . . START=7869953;STOP=7869953;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=224889;RCV=RCV000210468;SCV=SCV000266565;ALLELE_ID=226735;SYMBOL=PER3;HGVS_C=NM_001289862.1:c.1243C>G;HGVS_P=NP_001276791.1:p.Pro415Ala;MOLECULAR_CONSEQUENCE=NM_001289862.1:c.1243C>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_23..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Advanced_sleep_phase_syndrome..familial..3|ADVANCED_SLEEP_PHASE_SYNDROME..FAMILIAL..3_(1_family);ALL_PMIDS=26903630;ORIGIN=germline;XREFS=MedGen:C4225169|OMIM:616882|Orphanet:164736;DATES_ORDERED=2016-10-17 1 7869960 . A G . . START=7869960;STOP=7869960;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=224889;RCV=RCV000210468;SCV=SCV000266565;ALLELE_ID=226734;SYMBOL=PER3;HGVS_C=NM_001289862.1:c.1250A>G;HGVS_P=NP_001276791.1:p.His417Arg;MOLECULAR_CONSEQUENCE=NM_001289862.1:c.1250A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_23..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Advanced_sleep_phase_syndrome..familial..3|ADVANCED_SLEEP_PHASE_SYNDROME..FAMILIAL..3_(1_family);ALL_PMIDS=26903630;ORIGIN=germline;XREFS=MedGen:C4225169|OMIM:616882|Orphanet:164736;DATES_ORDERED=2016-10-17 -1 8045031 . G A . . START=8045031;STOP=8045031;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=60700;RCV=RCV000007484;SCV=SCV000027684;ALLELE_ID=22107;SYMBOL=PARK7;HGVS_C=NM_007262.4:c.487G>A;HGVS_P=NP_009193.2:p.Glu163Lys;MOLECULAR_CONSEQUENCE=NM_007262.4:c.487G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_08..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Parkinson_disease_7|PARKINSON_DISEASE_7..AUTOSOMAL_RECESSIVE_EARLY-ONSET;ALL_PMIDS=16240358|20301402|23279440;ORIGIN=germline;XREFS=GeneReviews:NBK1223|Genetic_Alliance:Parkinson+disease+7/9090|MedGen:C1853445|OMIM:602533.0001|OMIM:602533.0002|OMIM:602533.0003|OMIM:602533.0004|OMIM:602533.0005|OMIM:602533.0006|OMIM:606324|Orphanet:2828;DATES_ORDERED=2012-10-08 +1 8045031 . G A . . START=8045031;STOP=8045031;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=446717;RCV=RCV000007484;SCV=SCV000027684;ALLELE_ID=22107;SYMBOL=PARK7;HGVS_C=NM_007262.4:c.487G>A;HGVS_P=NP_009193.2:p.Glu163Lys;MOLECULAR_CONSEQUENCE=NM_007262.4:c.487G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Parkinson_disease_7|PARKINSON_DISEASE_7..AUTOSOMAL_RECESSIVE_EARLY-ONSET;ALL_PMIDS=16240358|20301402|23279440;ORIGIN=germline;XREFS=GeneReviews:NBK1223|Genetic_Alliance:Parkinson+disease+7/9090|MedGen:C1853445|OMIM:602533.0001|OMIM:602533.0002|OMIM:602533.0003|OMIM:602533.0004|OMIM:602533.0005|OMIM:602533.0006|OMIM:606324|Orphanet:2828;DATES_ORDERED=2005-11-01 1 25627552 . C G . . START=25627552;STOP=25627552;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=202166|208474;RCV=RCV000184007|RCV000190496;SCV=SCV000236501|SCV000245368;ALLELE_ID=198596;SYMBOL=RHD;HGVS_C=NM_016124.4:c.602C>G;HGVS_P=NP_057208.2:p.Thr201Arg;MOLECULAR_CONSEQUENCE=NM_016124.4:c.602C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression;ALL_PMIDS=24579654;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00 1 25628043 . T G . . START=25628043;STOP=25628043;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=202166|208474;RCV=RCV000184007|RCV000190496;SCV=SCV000236501|SCV000245368;ALLELE_ID=198597;SYMBOL=RHD;HGVS_C=NM_016124.4:c.667T>G;HGVS_P=NP_057208.2:p.Phe223Val;MOLECULAR_CONSEQUENCE=NM_016124.4:c.667T>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression;ALL_PMIDS=24579654;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00 1 25628073 . G C . . START=25628073;STOP=25628073;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=208474;RCV=RCV000190496;SCV=SCV000245368;ALLELE_ID=204995;SYMBOL=RHD;HGVS_C=NM_016124.4:c.697G>C;HGVS_P=NP_057208.2:p.Glu233Gln;MOLECULAR_CONSEQUENCE=NM_016124.4:c.697G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression|Weak_RhD_expression;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00 @@ -134,76 +134,84 @@ 1 25628120 . C T . . START=25628120;STOP=25628120;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=202166|208474;RCV=RCV000184007|RCV000190496;SCV=SCV000236501|SCV000245368;ALLELE_ID=198598;SYMBOL=RHD;HGVS_C=NM_016124.4:c.744C>T;HGVS_P=NP_057208.2:p.Ser248_eq_;MOLECULAR_CONSEQUENCE=NM_016124.4:c.744C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression;ALL_PMIDS=24579654;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00 1 25633104 . G A . . START=25633104;STOP=25633104;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=202166;RCV=RCV000184007;SCV=SCV000236501;ALLELE_ID=198599;SYMBOL=RHD;HGVS_C=NM_016124.4:c.957G>A;HGVS_P=NP_057208.2:p.Val319_eq_;MOLECULAR_CONSEQUENCE=NM_001127691.2:c.939+3154G>A:intron_variant|NM_016124.4:c.957G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression|Weak_RhD_expression;ALL_PMIDS=24579654;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00 1 25633172 . T C . . START=25633172;STOP=25633172;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=202166;RCV=RCV000184007;SCV=SCV000236501;ALLELE_ID=198600;SYMBOL=RHD;HGVS_C=NM_001127691.2:c.939+3222T>C;HGVS_P=NP_057208.2:p.Ile342Thr;MOLECULAR_CONSEQUENCE=NM_001127691.2:c.939+3222T>C:intron_variant|NM_016124.4:c.1025T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression|Weak_RhD_expression;ALL_PMIDS=24579654;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00 -1 25633210 . G A . . START=25633210;STOP=25633210;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=202166;RCV=RCV000184007;SCV=SCV000236501;ALLELE_ID=198601;SYMBOL=RHD;HGVS_C=NM_001127691.2:c.939+3260G>A;HGVS_P=NP_057208.2:p.Gly355Ser;MOLECULAR_CONSEQUENCE=NM_001127691.2:c.939+3260G>A:intron_variant|NM_016124.4:c.1063G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression|Weak_RhD_expression;ALL_PMIDS=24579654;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00 +1 25633210 . G A . . START=25633210;STOP=25633210;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=202166;RCV=RCV000184007;SCV=SCV000236501;ALLELE_ID=198601;SYMBOL=RHD;HGVS_C=NM_001127691.2:c.939+3260G>A;HGVS_P=NP_057208.2:p.Gly355Ser;MOLECULAR_CONSEQUENCE=NM_001127691.2:c.939+3260G>A:intron_variant|NM_016124.4:c.1063G>A:missense_variant;CLINICAL_SIGNIFICANCE=risk_factor;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_30..2014;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression|Weak_RhD_expression;ALL_PMIDS=24579654;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00 1 25701876 . C T . . START=25701876;STOP=25701876;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=208474;RCV=RCV000190496;SCV=SCV000245368;ALLELE_ID=204997;SYMBOL=RHD;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Colsan;SUBMITTERS_ORDERED=Colsan;ALL_TRAITS=Weak_RhD_expression|Weak_RhD_expression;ORIGIN=unknown;XREFS=MedGen:CN231363;DATES_ORDERED=0000-00-00 1 25747230 . G C . . START=25747230;STOP=25747230;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=17709;RCV=RCV000019283;SCV=SCV000039571;ALLELE_ID=32748;SYMBOL=RHCE;HGVS_C=NM_020485.5:c.48G_eq_;HGVS_P=NP_065231.3:p.Trp16_eq_;MOLECULAR_CONSEQUENCE=NM_020485.5:c.48G_eq_:synonymous_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=RH_C/c_POLYMORPHISM|RH_C/c_POLYMORPHISM;ALL_PMIDS=8220426;ORIGIN=germline;XREFS=OMIM:111700.0002;DATES_ORDERED=1993-09-01 -1 53676401 . T G . . START=53676401;STOP=53676401;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=30118;RCV=RCV000023026;SCV=SCV000044317;ALLELE_ID=39073;SYMBOL=CPT2;HGVS_C=NM_000098.2:c.1055T>G;HGVS_P=NP_000089.1:p.Phe352Cys;MOLECULAR_CONSEQUENCE=NM_000098.2:c.1055T>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_07..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Encephalopathy..acute..infection-induced..4..susceptibility_to|ENCEPHALOPATHY..ACUTE..INFECTION-INDUCED..SUSCEPTIBILITY_TO..4;ALL_PMIDS=15811315|18306170|20934285|21697855;ORIGIN=germline;XREFS=Genetic_Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308|MedGen:C3280160|OMIM:614212|Orphanet:263524;DATES_ORDERED=2011-08-01 +1 53676401 . T G . . START=53676401;STOP=53676401;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=30118;RCV=RCV000023026;SCV=SCV000044317;ALLELE_ID=39073;SYMBOL=CPT2;HGVS_C=NM_000098.2:c.1055T>G;HGVS_P=NP_000089.1:p.Phe352Cys;MOLECULAR_CONSEQUENCE=NM_000098.2:c.1055T>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_07..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Encephalopathy..acute..infection-induced..4..susceptibility_to|ENCEPHALOPATHY..ACUTE..INFECTION-INDUCED..SUSCEPTIBILITY_TO..4;ALL_PMIDS=15811315|18306170|20934285|21697855;ORIGIN=germline;XREFS=Genetic_Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308|MedGen:C3280160|OMIM:614212|Orphanet:263524;DATES_ORDERED=2011-08-01 1 53676448 . G A . . START=53676448;STOP=53676448;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=30118;RCV=RCV000023026;SCV=SCV000044317;ALLELE_ID=39074;SYMBOL=CPT2;HGVS_C=NM_000098.2:c.1102G>A;HGVS_P=NP_000089.1:p.Val368Ile;MOLECULAR_CONSEQUENCE=NM_000098.2:c.1102G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Encephalopathy..acute..infection-induced..4..susceptibility_to|ENCEPHALOPATHY..ACUTE..INFECTION-INDUCED..SUSCEPTIBILITY_TO..4;ALL_PMIDS=15811315|18306170|20934285|21697855;ORIGIN=germline;XREFS=Genetic_Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308|MedGen:C3280160|OMIM:614212|Orphanet:263524;DATES_ORDERED=2011-08-01 -1 53676583 . CAG C . . START=53676585;STOP=53676586;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=60702;RCV=RCV000202553;SCV=SCV000153666;ALLELE_ID=98339;SYMBOL=CPT2;HGVS_C=NM_000098.2:c.1239_1240delGA;HGVS_P=NP_000089.1:p.Lys414Thrfs;MOLECULAR_CONSEQUENCE=NM_000098.2:c.1239_1240delGA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Carnitine_palmitoyltransferase_II_deficiency|Carnitine_palmitoyltransferase_II_deficiency;ALL_PMIDS=10090476|20301431|25173338;ORIGIN=germline;XREFS=GeneReviews:NBK1253|MedGen:C0342790|Office_of_Rare_Diseases:1121|SNOMED_CT:238002005;DATES_ORDERED=2014-05-15 -1 53676688 . T C . . START=53676688;STOP=53676688;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=60702;RCV=RCV000202553;SCV=SCV000153666;ALLELE_ID=23999;SYMBOL=CPT2;HGVS_C=NM_000098.2:c.1342T>C;HGVS_P=NP_000089.1:p.Phe448Leu;MOLECULAR_CONSEQUENCE=NM_000098.2:c.1342T>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_08..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Carnitine_palmitoyltransferase_II_deficiency|Carnitine_palmitoyltransferase_II_deficiency;ALL_PMIDS=10090476|20301431|25173338;ORIGIN=germline;XREFS=GeneReviews:NBK1253|MedGen:C0342790|Office_of_Rare_Diseases:1121|SNOMED_CT:238002005;DATES_ORDERED=2014-05-15 +1 53676583 . CAG C . . START=53676585;STOP=53676586;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=60702;RCV=RCV000009520|RCV000202553;SCV=SCV000029738|SCV000153666;ALLELE_ID=98339;SYMBOL=CPT2;HGVS_C=NM_000098.2:c.1239_1240delGA;HGVS_P=NP_000089.1:p.Lys414Thrfs;MOLECULAR_CONSEQUENCE=NM_000098.2:c.1239_1240delGA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Carnitine_palmitoyltransferase_II_deficiency..myopathic..stress-induced|CARNITINE_PALMITOYLTRANSFERASE_II_DEFICIENCY..MYOPATHIC..STRESS-INDUCED|Carnitine_palmitoyltransferase_II_deficiency;ALL_PMIDS=10090476|11477613|12410208|20301431|25173338;ORIGIN=germline;XREFS=GeneReviews:NBK1253|MedGen:C1833508|OMIM:255110|Orphanet:157|Orphanet:228302|MedGen:C0342790|Office_of_Rare_Diseases:1121|SNOMED_CT:238002005;DATES_ORDERED=2002-11-01|2014-05-15 +1 53676688 . T C . . START=53676688;STOP=53676688;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=60702;RCV=RCV000009520|RCV000202553;SCV=SCV000029738|SCV000153666;ALLELE_ID=23999;SYMBOL=CPT2;HGVS_C=NM_000098.2:c.1342T>C;HGVS_P=NP_000089.1:p.Phe448Leu;MOLECULAR_CONSEQUENCE=NM_000098.2:c.1342T>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_18..2016;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Carnitine_palmitoyltransferase_II_deficiency..myopathic..stress-induced|CARNITINE_PALMITOYLTRANSFERASE_II_DEFICIENCY..MYOPATHIC..STRESS-INDUCED|Carnitine_palmitoyltransferase_II_deficiency;ALL_PMIDS=10090476|11477613|12410208|20301431|25173338;ORIGIN=germline;XREFS=GeneReviews:NBK1253|MedGen:C1833508|OMIM:255110|Orphanet:157|Orphanet:228302|MedGen:C0342790|Office_of_Rare_Diseases:1121|SNOMED_CT:238002005;DATES_ORDERED=2002-11-01|2014-05-15 1 55331078 . C G . . START=55331078;STOP=55331078;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4368;RCV=RCV000004616;SCV=SCV000024790;ALLELE_ID=38433;SYMBOL=DHCR24;HGVS_C=NM_014762.3:c.918G>C;HGVS_P=NP_055577.1:p.Lys306Asn;MOLECULAR_CONSEQUENCE=NM_014762.3:c.918G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2001;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Desmosterolosis|DESMOSTEROLOSIS;ALL_PMIDS=11519011;ORIGIN=germline;XREFS=GeneTests:238860|Genetic_Alliance:Desmosterolosis/2221|MedGen:C1865596|OMIM:602398|Office_of_Rare_Diseases:10283|Orphanet:35107;DATES_ORDERED=2001-10-01 1 55331115 . T G . . START=55331115;STOP=55331115;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4368;RCV=RCV000004616;SCV=SCV000024790;ALLELE_ID=19407;SYMBOL=DHCR24;HGVS_C=NM_014762.3:c.881A>C;HGVS_P=NP_055577.1:p.Asn294Thr;MOLECULAR_CONSEQUENCE=NM_014762.3:c.881A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2001;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Desmosterolosis|DESMOSTEROLOSIS;ALL_PMIDS=11519011;ORIGIN=germline;XREFS=GeneTests:238860|Genetic_Alliance:Desmosterolosis/2221|MedGen:C1865596|OMIM:602398|Office_of_Rare_Diseases:10283|Orphanet:35107;DATES_ORDERED=2001-10-01 1 94467548 . C G . . START=94467548;STOP=94467548;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236131;RCV=RCV000408516;SCV=SCV000281924;ALLELE_ID=22923;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.6148G>C;HGVS_P=NP_000341.2:p.Val2050Leu;MOLECULAR_CONSEQUENCE=NM_000350.2:c.6148G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_17..2017;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01 -1 94471055 . C T . . START=94471055;STOP=94471055;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236068;RCV=RCV000408532;SCV=SCV000281790;ALLELE_ID=105317;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.6089G>A;HGVS_P=NP_000341.2:p.Arg2030Gln;MOLECULAR_CONSEQUENCE=NM_000350.2:c.6089G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_02..2017;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01 +1 94471055 . C T . . START=94471055;STOP=94471055;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236068;RCV=RCV000408532;SCV=SCV000281790;ALLELE_ID=105317;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.6089G>A;HGVS_P=NP_000341.2:p.Arg2030Gln;MOLECULAR_CONSEQUENCE=NM_000350.2:c.6089G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_02..2017;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01 1 94480178 . G T . . START=94480178;STOP=94480178;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236131;RCV=RCV000408516;SCV=SCV000281924;ALLELE_ID=105260;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.5381C>A;HGVS_P=NP_000341.2:p.Ala1794Asp;MOLECULAR_CONSEQUENCE=NM_000350.2:c.5381C>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_01..2016;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01 1 94485181 . A C . . START=94485181;STOP=94485181;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236092;RCV=RCV000408474;SCV=SCV000281849;ALLELE_ID=237656;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.5153T>G;HGVS_P=NP_000341.2:p.Val1718Gly;MOLECULAR_CONSEQUENCE=NM_000350.2:c.5153T>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_01..2016;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01 -1 94492973 . G A . . START=94492973;STOP=94492973;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=225694;RCV=RCV000211040;SCV=SCV000267675;ALLELE_ID=227509;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.4539+2028C>T;MOLECULAR_CONSEQUENCE=NM_000350.2:c.4539+2028C>T:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_01..2016;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=26527198|28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=0000-00-00 +1 94492973 . G A . . START=94492973;STOP=94492973;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=225694;RCV=RCV000211040;SCV=SCV000267675;ALLELE_ID=227509;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.4539+2028C>T;MOLECULAR_CONSEQUENCE=NM_000350.2:c.4539+2028C>T:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_01..2016;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=26527198|28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=0000-00-00 1 94508356 . T A . . START=94508356;STOP=94508356;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236091;RCV=RCV000408579;SCV=SCV000281848;ALLELE_ID=237681;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.3289A>T;HGVS_P=NP_000341.2:p.Arg1097Ter;MOLECULAR_CONSEQUENCE=NM_000350.2:c.3289A>T:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_01..2016;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01 1 94508969 . G A . . START=94508969;STOP=94508969;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=7901;RCV=RCV000008358|RCV000008359;SCV=SCV000028566|SCV000028567;ALLELE_ID=22933;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.3113C>T;HGVS_P=NP_000341.2:p.Ala1038Val;MOLECULAR_CONSEQUENCE=NM_000350.2:c.3113C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_21..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Stargardt_disease_1|STARGARDT_DISEASE_1|Cone-rod_dystrophy_3;ALL_PMIDS=10958761|10958763|12796258|16103129|28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827|Genetic_Alliance:Cone-Rod+Dystrophy+3/1769|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1858806|OMIM:604116|Office_of_Rare_Diseases:10653|Orphanet:1872;DATES_ORDERED=2005-10-01 -1 94517254 . C G . . START=94517254;STOP=94517254;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236091|236092;RCV=RCV000408579|RCV000408474;SCV=SCV000281848|SCV000281849;ALLELE_ID=22918;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.2588G>C;HGVS_P=NP_000341.2:p.Gly863Ala;MOLECULAR_CONSEQUENCE=NM_000350.2:c.2588G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_24..2017;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01 +1 94517254 . C G . . START=94517254;STOP=94517254;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236091|236092;RCV=RCV000408579|RCV000408474;SCV=SCV000281848|SCV000281849;ALLELE_ID=22918;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.2588G>C;HGVS_P=NP_000341.2:p.Gly863Ala;MOLECULAR_CONSEQUENCE=NM_000350.2:c.2588G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_19..2017;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01 1 94528806 . A G . . START=94528806;STOP=94528806;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=7901;RCV=RCV000008358|RCV000008359;SCV=SCV000028566|SCV000028567;ALLELE_ID=22940;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.1622T>C;HGVS_P=NP_000341.2:p.Leu541Pro;MOLECULAR_CONSEQUENCE=NM_000350.2:c.1622T>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_12..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Stargardt_disease_1|STARGARDT_DISEASE_1|Cone-rod_dystrophy_3;ALL_PMIDS=10958761|10958763|12796258|16103129|28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827|Genetic_Alliance:Cone-Rod+Dystrophy+3/1769|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1858806|OMIM:604116|Office_of_Rare_Diseases:10653|Orphanet:1872;DATES_ORDERED=2005-10-01 1 94576926 . G A . . START=94576926;STOP=94576926;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=225694;RCV=RCV000211040;SCV=SCV000267675;ALLELE_ID=227508;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.302+68C>T;MOLECULAR_CONSEQUENCE=NM_000350.2:c.302+68C>T:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=26527198|28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=0000-00-00 1 94586601 . T C . . START=94586601;STOP=94586601;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236068;RCV=RCV000408532;SCV=SCV000281790;ALLELE_ID=104999;SYMBOL=ABCA4;HGVS_C=NM_000350.2:c.1A>G;HGVS_P=NP_000341.2:p.Met1Val;MOLECULAR_CONSEQUENCE=NM_000350.2:c.1A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_23..2016;ALL_SUBMITTERS=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Univ._Regensburg..Univ._Regensburg;ALL_TRAITS=Stargardt_disease_1;ALL_PMIDS=28118664;ORIGIN=germline;XREFS=Genetic_Alliance:Stargardt+disease+1/9354|Genetics_Home_Reference:stargardt-macular-degeneration|MeSH:C535804|MedGen:C1855465|OMIM:248200|OMIM:601691.0026|Orphanet:827;DATES_ORDERED=2016-01-01 -1 116269619 . T C . . START=116269619;STOP=116269619;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=228471;RCV=RCV000217394;SCV=SCV000271536;ALLELE_ID=44436;SYMBOL=CASQ2;HGVS_C=NM_001232.3:c.731A>G;HGVS_P=NP_001223.2:p.His244Arg;MOLECULAR_CONSEQUENCE=NM_001232.3:c.731A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-02-05 -1 116269620 . G A . . START=116269620;STOP=116269620;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=228471;RCV=RCV000217394;SCV=SCV000271536;ALLELE_ID=228262;SYMBOL=CASQ2;HGVS_C=NM_001232.3:c.730C>T;HGVS_P=NP_001223.2:p.His244Tyr;MOLECULAR_CONSEQUENCE=NM_001232.3:c.730C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_10..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-02-05 -1 155204994 . C G . . START=155204994;STOP=155204994;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4297;RCV=RCV000004533|RCV000004534|RCV000004535|RCV000004536;SCV=SCV000024707|SCV000024708|SCV000024709|SCV000024710;ALLELE_ID=38385;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.1497G>C;HGVS_P=NP_001005741.1:p.Val499_eq_;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.1497G>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=4;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_04..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Gaucher's_disease..type_1|GAUCHER_DISEASE..TYPE_I|Acute_neuronopathic_Gaucher's_disease|Subacute_neuronopathic_Gaucher's_disease|Gaucher_disease..perinatal_lethal;ALL_PMIDS=10685993|1437405|1594045|18197057|1899336|1972019|19888064|20301446|7857677|8118460|8929950;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009|Genetic_Alliance:Gaucher+Disease+Type+2/3003|MedGen:C0268250|OMIM:230900|OMIM:606463.0001|OMIM:606463.0002|OMIM:606463.0006|OMIM:606463.0008|OMIM:606463.0009|OMIM:606463.0013|OMIM:606463.0015|OMIM:606463.0017|OMIM:606463.0030|OMIM:606463.0031|OMIM:606463.0047|SNOMED_CT:12246008|Genetic_Alliance:Gaucher+Disease+Type+3/3004|MedGen:C0268251|OMIM:231000|OMIM:606463.0005|OMIM:606463.0007|OMIM:606463.0026|OMIM:606463.0035|OMIM:606463.0040|OMIM:606463.0043|Orphanet:77261|SNOMED_CT:5963005|Genetic_Alliance:Gaucher+Disease+Perinatal+Lethal/3001|MedGen:C1842704|OMIM:608013;DATES_ORDERED=2000-03-01 +1 116269619 . T C . . START=116269619;STOP=116269619;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=228471;RCV=RCV000217394;SCV=SCV000271536;ALLELE_ID=44436;SYMBOL=CASQ2;HGVS_C=NM_001232.3:c.731A>G;HGVS_P=NP_001223.2:p.His244Arg;MOLECULAR_CONSEQUENCE=NM_001232.3:c.731A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_28..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-02-05 +1 116269620 . G A . . START=116269620;STOP=116269620;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=228471;RCV=RCV000217394;SCV=SCV000271536;ALLELE_ID=228262;SYMBOL=CASQ2;HGVS_C=NM_001232.3:c.730C>T;HGVS_P=NP_001223.2:p.His244Tyr;MOLECULAR_CONSEQUENCE=NM_001232.3:c.730C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_21..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-02-05 +1 155204994 . C G . . START=155204994;STOP=155204994;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4297;RCV=RCV000004533|RCV000004534|RCV000004535|RCV000004536;SCV=SCV000024707|SCV000024708|SCV000024709|SCV000024710;ALLELE_ID=38385;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.1497G>C;HGVS_P=NP_001005741.1:p.Val499_eq_;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.1497G>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=4;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_21..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Gaucher's_disease..type_1|GAUCHER_DISEASE..TYPE_I|Acute_neuronopathic_Gaucher's_disease|Subacute_neuronopathic_Gaucher's_disease|Gaucher_disease..perinatal_lethal;ALL_PMIDS=10685993|1437405|1594045|18197057|1899336|1972019|19888064|20301446|7857677|8118460|8929950;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009|Genetic_Alliance:Gaucher+Disease+Type+2/3003|MedGen:C0268250|OMIM:230900|OMIM:606463.0001|OMIM:606463.0002|OMIM:606463.0006|OMIM:606463.0008|OMIM:606463.0009|OMIM:606463.0013|OMIM:606463.0015|OMIM:606463.0017|OMIM:606463.0030|OMIM:606463.0031|OMIM:606463.0047|SNOMED_CT:12246008|Genetic_Alliance:Gaucher+Disease+Type+3/3004|MedGen:C0268251|OMIM:231000|OMIM:606463.0005|OMIM:606463.0007|OMIM:606463.0026|OMIM:606463.0035|OMIM:606463.0040|OMIM:606463.0043|Orphanet:77261|SNOMED_CT:5963005|Genetic_Alliance:Gaucher+Disease+Perinatal+Lethal/3001|MedGen:C1842704|OMIM:608013;DATES_ORDERED=2000-03-01 1 155205008 . C G . . START=155205008;STOP=155205008;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4297;RCV=RCV000004533|RCV000004534|RCV000004535|RCV000004536;SCV=SCV000024707|SCV000024708|SCV000024709|SCV000024710;ALLELE_ID=38384;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.1483G>C;HGVS_P=NP_001005741.1:p.Ala495Pro;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.1483G>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=4;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_24..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Gaucher's_disease..type_1|GAUCHER_DISEASE..TYPE_I|Acute_neuronopathic_Gaucher's_disease|Subacute_neuronopathic_Gaucher's_disease|Gaucher_disease..perinatal_lethal;ALL_PMIDS=10685993|1437405|1594045|18197057|1899336|1972019|19888064|20301446|7857677|8118460|8929950;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009|Genetic_Alliance:Gaucher+Disease+Type+2/3003|MedGen:C0268250|OMIM:230900|OMIM:606463.0001|OMIM:606463.0002|OMIM:606463.0006|OMIM:606463.0008|OMIM:606463.0009|OMIM:606463.0013|OMIM:606463.0015|OMIM:606463.0017|OMIM:606463.0030|OMIM:606463.0031|OMIM:606463.0047|SNOMED_CT:12246008|Genetic_Alliance:Gaucher+Disease+Type+3/3004|MedGen:C0268251|OMIM:231000|OMIM:606463.0005|OMIM:606463.0007|OMIM:606463.0026|OMIM:606463.0035|OMIM:606463.0040|OMIM:606463.0043|Orphanet:77261|SNOMED_CT:5963005|Genetic_Alliance:Gaucher+Disease+Perinatal+Lethal/3001|MedGen:C1842704|OMIM:608013;DATES_ORDERED=2000-03-01 -1 155205043 . A G . . START=155205043;STOP=155205043;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4297;RCV=RCV000004533|RCV000004534|RCV000004535|RCV000004536;SCV=SCV000024707|SCV000024708|SCV000024709|SCV000024710;ALLELE_ID=19327;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.1448T>C;HGVS_P=NP_001005741.1:p.Leu483Pro;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.1448T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..risk_factor;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=4;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_23..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Gaucher's_disease..type_1|GAUCHER_DISEASE..TYPE_I|Acute_neuronopathic_Gaucher's_disease|Subacute_neuronopathic_Gaucher's_disease|Gaucher_disease..perinatal_lethal;ALL_PMIDS=10685993|1437405|1594045|18197057|1899336|1972019|19888064|20301446|7857677|8118460|8929950;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009|Genetic_Alliance:Gaucher+Disease+Type+2/3003|MedGen:C0268250|OMIM:230900|OMIM:606463.0001|OMIM:606463.0002|OMIM:606463.0006|OMIM:606463.0008|OMIM:606463.0009|OMIM:606463.0013|OMIM:606463.0015|OMIM:606463.0017|OMIM:606463.0030|OMIM:606463.0031|OMIM:606463.0047|SNOMED_CT:12246008|Genetic_Alliance:Gaucher+Disease+Type+3/3004|MedGen:C0268251|OMIM:231000|OMIM:606463.0005|OMIM:606463.0007|OMIM:606463.0026|OMIM:606463.0035|OMIM:606463.0040|OMIM:606463.0043|Orphanet:77261|SNOMED_CT:5963005|Genetic_Alliance:Gaucher+Disease+Perinatal+Lethal/3001|MedGen:C1842704|OMIM:608013;DATES_ORDERED=2000-03-01 -1 155205518 . C G . . START=155205518;STOP=155205518;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4334;RCV=RCV000004580|RCV000004581;SCV=SCV000024754|SCV000024755;ALLELE_ID=19332;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.1342G>C;HGVS_P=NP_001005741.1:p.Asp448His;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.1342G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_29..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Acute_neuronopathic_Gaucher's_disease|GAUCHER_DISEASE..TYPE_II|Subacute_neuronopathic_Gaucher's_disease;ALL_PMIDS=15690354|20301446;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+2/3003|MedGen:C0268250|OMIM:230900|OMIM:606463.0001|OMIM:606463.0002|OMIM:606463.0006|OMIM:606463.0008|OMIM:606463.0009|OMIM:606463.0013|OMIM:606463.0015|OMIM:606463.0017|OMIM:606463.0030|OMIM:606463.0031|OMIM:606463.0047|SNOMED_CT:12246008|Genetic_Alliance:Gaucher+Disease+Type+3/3004|MedGen:C0268251|OMIM:231000|OMIM:606463.0005|OMIM:606463.0007|OMIM:606463.0026|OMIM:606463.0035|OMIM:606463.0040|OMIM:606463.0043|Orphanet:355|Orphanet:77261|SNOMED_CT:5963005;DATES_ORDERED=2005-04-01 +1 155205043 . A G . . START=155205043;STOP=155205043;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4297;RCV=RCV000004533|RCV000004534|RCV000004535|RCV000004536;SCV=SCV000024707|SCV000024708|SCV000024709|SCV000024710;ALLELE_ID=19327;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.1448T>C;HGVS_P=NP_001005741.1:p.Leu483Pro;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.1448T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..risk_factor;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=4;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_23..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Gaucher's_disease..type_1|GAUCHER_DISEASE..TYPE_I|Acute_neuronopathic_Gaucher's_disease|Subacute_neuronopathic_Gaucher's_disease|Gaucher_disease..perinatal_lethal;ALL_PMIDS=10685993|1437405|1594045|18197057|1899336|1972019|19888064|20301446|7857677|8118460|8929950;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009|Genetic_Alliance:Gaucher+Disease+Type+2/3003|MedGen:C0268250|OMIM:230900|OMIM:606463.0001|OMIM:606463.0002|OMIM:606463.0006|OMIM:606463.0008|OMIM:606463.0009|OMIM:606463.0013|OMIM:606463.0015|OMIM:606463.0017|OMIM:606463.0030|OMIM:606463.0031|OMIM:606463.0047|SNOMED_CT:12246008|Genetic_Alliance:Gaucher+Disease+Type+3/3004|MedGen:C0268251|OMIM:231000|OMIM:606463.0005|OMIM:606463.0007|OMIM:606463.0026|OMIM:606463.0035|OMIM:606463.0040|OMIM:606463.0043|Orphanet:77261|SNOMED_CT:5963005|Genetic_Alliance:Gaucher+Disease+Perinatal+Lethal/3001|MedGen:C1842704|OMIM:608013;DATES_ORDERED=2000-03-01 +1 155205518 . C G . . START=155205518;STOP=155205518;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4334;RCV=RCV000004580|RCV000004581;SCV=SCV000024754|SCV000024755;ALLELE_ID=19332;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.1342G>C;HGVS_P=NP_001005741.1:p.Asp448His;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.1342G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_29..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Acute_neuronopathic_Gaucher's_disease|GAUCHER_DISEASE..TYPE_II|Subacute_neuronopathic_Gaucher's_disease;ALL_PMIDS=15690354|20301446;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+2/3003|MedGen:C0268250|OMIM:230900|OMIM:606463.0001|OMIM:606463.0002|OMIM:606463.0006|OMIM:606463.0008|OMIM:606463.0009|OMIM:606463.0013|OMIM:606463.0015|OMIM:606463.0017|OMIM:606463.0030|OMIM:606463.0031|OMIM:606463.0047|SNOMED_CT:12246008|Genetic_Alliance:Gaucher+Disease+Type+3/3004|MedGen:C0268251|OMIM:231000|OMIM:606463.0005|OMIM:606463.0007|OMIM:606463.0026|OMIM:606463.0035|OMIM:606463.0040|OMIM:606463.0043|Orphanet:355|Orphanet:77261|SNOMED_CT:5963005;DATES_ORDERED=2005-04-01 1 155206167 . C T . . START=155206167;STOP=155206167;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4299;RCV=RCV000004538;SCV=SCV000024712;ALLELE_ID=38432;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.1093G>A;HGVS_P=NP_001005741.1:p.Glu365Lys;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.1093G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..risk_factor;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_28..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Gaucher's_disease..type_1|GAUCHER_DISEASE..TYPE_I;ALL_PMIDS=10079102|11903352|15146461|18197057|1864608|19888064|20301446;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009;DATES_ORDERED=2004-06-01 1 155207249 . A C . . START=155207249;STOP=155207249;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4334;RCV=RCV000004580|RCV000004581;SCV=SCV000024754|SCV000024755;ALLELE_ID=19373;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.882T>G;HGVS_P=NP_001005741.1:p.His294Gln;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.882T>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_01..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Acute_neuronopathic_Gaucher's_disease|GAUCHER_DISEASE..TYPE_II|Subacute_neuronopathic_Gaucher's_disease;ALL_PMIDS=15690354|20301446;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+2/3003|MedGen:C0268250|OMIM:230900|OMIM:606463.0001|OMIM:606463.0002|OMIM:606463.0006|OMIM:606463.0008|OMIM:606463.0009|OMIM:606463.0013|OMIM:606463.0015|OMIM:606463.0017|OMIM:606463.0030|OMIM:606463.0031|OMIM:606463.0047|SNOMED_CT:12246008|Genetic_Alliance:Gaucher+Disease+Type+3/3004|MedGen:C0268251|OMIM:231000|OMIM:606463.0005|OMIM:606463.0007|OMIM:606463.0026|OMIM:606463.0035|OMIM:606463.0040|OMIM:606463.0043|Orphanet:355|Orphanet:77261|SNOMED_CT:5963005;DATES_ORDERED=2005-04-01 1 155208361 . C G . . START=155208361;STOP=155208361;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=4299;RCV=RCV000004538;SCV=SCV000024712;ALLELE_ID=19338;SYMBOL=GBA;HGVS_C=NM_001005741.2:c.535G>C;HGVS_P=NP_001005741.1:p.Asp179His;MOLECULAR_CONSEQUENCE=NM_001005741.2:c.535G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_28..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Gaucher's_disease..type_1|GAUCHER_DISEASE..TYPE_I;ALL_PMIDS=10079102|11903352|15146461|18197057|1864608|19888064|20301446;ORIGIN=germline;XREFS=GeneReviews:NBK1269|Genetic_Alliance:Gaucher+Disease+Type+1/3002|MedGen:C1961835|OMIM:230800|Orphanet:355|Orphanet:77259|SNOMED_CT:62201009;DATES_ORDERED=2004-06-01 1 156830751 . C T . . START=156830751;STOP=156830751;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12304;RCV=RCV000030667;SCV=SCV000033344;ALLELE_ID=27343;SYMBOL=NTRK1;HGVS_C=NM_002529.3:c.25C>T;HGVS_P=NP_002520.2:p.Gln9Ter;MOLECULAR_CONSEQUENCE=NM_001007792.1:c.123-3395C>T:intron_variant|NM_001012331.1:c.25C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_05..2008;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hereditary_insensitivity_to_pain_with_anhidrosis|INSENSITIVITY_TO_PAIN..CONGENITAL..WITH_ANHIDROSIS;ALL_PMIDS=10330344|11159935|20301726;ORIGIN=germline;XREFS=GeneReviews:NBK1769|Genetic_Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832|MedGen:C0020074|OMIM:256800|Office_of_Rare_Diseases:3006|Orphanet:642|SNOMED_CT:62985007;DATES_ORDERED=2001-02-01 -1 156848918 . C T . . START=156848918;STOP=156848918;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12304;RCV=RCV000030667;SCV=SCV000033344;ALLELE_ID=38397;SYMBOL=NTRK1;HGVS_C=NM_002529.3:c.1810C>T;HGVS_P=NP_002520.2:p.His604Tyr;MOLECULAR_CONSEQUENCE=NM_001007792.1:c.1702C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hereditary_insensitivity_to_pain_with_anhidrosis|INSENSITIVITY_TO_PAIN..CONGENITAL..WITH_ANHIDROSIS;ALL_PMIDS=10330344|11159935|20301726;ORIGIN=germline;XREFS=GeneReviews:NBK1769|Genetic_Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832|MedGen:C0020074|OMIM:256800|Office_of_Rare_Diseases:3006|Orphanet:642|SNOMED_CT:62985007;DATES_ORDERED=2001-02-01 -1 156848946 . G T . . START=156848946;STOP=156848946;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12304;RCV=RCV000030667;SCV=SCV000033344;ALLELE_ID=27347;SYMBOL=NTRK1;HGVS_C=NM_002529.3:c.1838G>T;HGVS_P=NP_002520.2:p.Gly613Val;MOLECULAR_CONSEQUENCE=NM_001007792.1:c.1730G>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hereditary_insensitivity_to_pain_with_anhidrosis|INSENSITIVITY_TO_PAIN..CONGENITAL..WITH_ANHIDROSIS;ALL_PMIDS=10330344|11159935|20301726;ORIGIN=germline;XREFS=GeneReviews:NBK1769|Genetic_Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832|MedGen:C0020074|OMIM:256800|Office_of_Rare_Diseases:3006|Orphanet:642|SNOMED_CT:62985007;DATES_ORDERED=2001-02-01 +1 156848918 . C T . . START=156848918;STOP=156848918;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12304;RCV=RCV000030667;SCV=SCV000033344;ALLELE_ID=38397;SYMBOL=NTRK1;HGVS_C=NM_002529.3:c.1810C>T;HGVS_P=NP_002520.2:p.His604Tyr;MOLECULAR_CONSEQUENCE=NM_001007792.1:c.1702C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hereditary_insensitivity_to_pain_with_anhidrosis|INSENSITIVITY_TO_PAIN..CONGENITAL..WITH_ANHIDROSIS;ALL_PMIDS=10330344|11159935|20301726;ORIGIN=germline;XREFS=GeneReviews:NBK1769|Genetic_Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832|MedGen:C0020074|OMIM:256800|Office_of_Rare_Diseases:3006|Orphanet:642|SNOMED_CT:62985007;DATES_ORDERED=2001-02-01 +1 156848946 . G T . . START=156848946;STOP=156848946;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12304;RCV=RCV000030667;SCV=SCV000033344;ALLELE_ID=27347;SYMBOL=NTRK1;HGVS_C=NM_002529.3:c.1838G>T;HGVS_P=NP_002520.2:p.Gly613Val;MOLECULAR_CONSEQUENCE=NM_001007792.1:c.1730G>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hereditary_insensitivity_to_pain_with_anhidrosis|INSENSITIVITY_TO_PAIN..CONGENITAL..WITH_ANHIDROSIS;ALL_PMIDS=10330344|11159935|20301726;ORIGIN=germline;XREFS=GeneReviews:NBK1769|Genetic_Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832|MedGen:C0020074|OMIM:256800|Office_of_Rare_Diseases:3006|Orphanet:642|SNOMED_CT:62985007;DATES_ORDERED=2001-02-01 1 161276217 . G C . . START=161276217;STOP=161276217;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14182;RCV=RCV000015246;SCV=SCV000035505;ALLELE_ID=38403;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.486C>G;HGVS_P=NP_000521.2:p.Ile162Met;MOLECULAR_CONSEQUENCE=NM_000530.7:c.486C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2002;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Charcot-Marie-Tooth_disease_type_2I|CHARCOT-MARIE-TOOTH_DISEASE..TYPE_2I;ALL_PMIDS=11835375|20301462|9222756;ORIGIN=germline;XREFS=GeneReviews:NBK1285|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300|MedGen:C1843251|OMIM:607677|Office_of_Rare_Diseases:9197|Orphanet:99942;DATES_ORDERED=2002-02-01 1 161276564 . C T . . START=161276564;STOP=161276564;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14180;RCV=RCV000015243;SCV=SCV000035502;ALLELE_ID=38402;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.382G>A;HGVS_P=NP_000521.2:p.Asp128Asn;MOLECULAR_CONSEQUENCE=NM_000530.7:c.382G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dejerine-sottas_syndrome..sporadic|DEJERINE-SOTTAS_SYNDROME..SPORADIC;ALL_PMIDS=9222756;ORIGIN=germline;XREFS=MedGen:C4016265;DATES_ORDERED=1997-01-01 1 161276600 . T G . . START=161276600;STOP=161276600;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14180;RCV=RCV000015243;SCV=SCV000035502;ALLELE_ID=38401;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.346A>C;HGVS_P=NP_000521.2:p.Asn116His;MOLECULAR_CONSEQUENCE=NM_000530.7:c.346A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dejerine-sottas_syndrome..sporadic|DEJERINE-SOTTAS_SYNDROME..SPORADIC;ALL_PMIDS=9222756;ORIGIN=germline;XREFS=MedGen:C4016265;DATES_ORDERED=1997-01-01 -1 161276605 . A G . . START=161276605;STOP=161276605;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14180;RCV=RCV000015243;SCV=SCV000035502;ALLELE_ID=29219;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.341T>C;HGVS_P=NP_000521.2:p.Ile114Thr;MOLECULAR_CONSEQUENCE=NM_000530.7:c.341T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dejerine-sottas_syndrome..sporadic|DEJERINE-SOTTAS_SYNDROME..SPORADIC;ALL_PMIDS=9222756;ORIGIN=germline;XREFS=MedGen:C4016265;DATES_ORDERED=1997-01-01 +1 161276605 . A G . . START=161276605;STOP=161276605;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14180;RCV=RCV000015243;SCV=SCV000035502;ALLELE_ID=29219;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.341T>C;HGVS_P=NP_000521.2:p.Ile114Thr;MOLECULAR_CONSEQUENCE=NM_000530.7:c.341T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_25..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dejerine-sottas_syndrome..sporadic|DEJERINE-SOTTAS_SYNDROME..SPORADIC;ALL_PMIDS=9222756;ORIGIN=germline;XREFS=MedGen:C4016265;DATES_ORDERED=1997-01-01 1 161276609 . C A . . START=161276609;STOP=161276609;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=208147;RCV=RCV000194363;SCV=SCV000243903;ALLELE_ID=49442;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.337G>T;HGVS_P=NP_000521.2:p.Val113Phe;MOLECULAR_CONSEQUENCE=NM_000530.7:c.337G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_26..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Charcot-Marie-Tooth_disease..demyelinating..type_1b|Charcot-Marie-Tooth_disease..type_IB;ALL_PMIDS=20301384;ORIGIN=germline;XREFS=GeneReviews:NBK1205|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+1B/1285|MedGen:C0270912|OMIM:118200|Office_of_Rare_Diseases:1246|Orphanet:101082|SNOMED_CT:42986003;DATES_ORDERED=2015-03-26 -1 161276672 . C T . . START=161276672;STOP=161276672;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14182;RCV=RCV000015246;SCV=SCV000035505;ALLELE_ID=38404;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.274G>A;HGVS_P=NP_000521.2:p.Val92Met;MOLECULAR_CONSEQUENCE=NM_000530.7:c.274G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2002;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Charcot-Marie-Tooth_disease_type_2I|CHARCOT-MARIE-TOOTH_DISEASE..TYPE_2I;ALL_PMIDS=11835375|20301462|9222756;ORIGIN=germline;XREFS=GeneReviews:NBK1285|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300|MedGen:C1843251|OMIM:607677|Office_of_Rare_Diseases:9197|Orphanet:99942;DATES_ORDERED=2002-02-01 -1 161276680 . A T . . START=161276680;STOP=161276680;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14182;RCV=RCV000015246;SCV=SCV000035505;ALLELE_ID=29221;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.266T>A;HGVS_P=NP_000521.2:p.Ile89Asn;MOLECULAR_CONSEQUENCE=NM_000530.7:c.266T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2002;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Charcot-Marie-Tooth_disease_type_2I|CHARCOT-MARIE-TOOTH_DISEASE..TYPE_2I;ALL_PMIDS=11835375|20301462|9222756;ORIGIN=germline;XREFS=GeneReviews:NBK1285|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300|MedGen:C1843251|OMIM:607677|Office_of_Rare_Diseases:9197|Orphanet:99942;DATES_ORDERED=2002-02-01 +1 161276672 . C T . . START=161276672;STOP=161276672;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14182;RCV=RCV000015246;SCV=SCV000035505;ALLELE_ID=38404;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.274G>A;HGVS_P=NP_000521.2:p.Val92Met;MOLECULAR_CONSEQUENCE=NM_000530.7:c.274G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_21..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Charcot-Marie-Tooth_disease_type_2I|CHARCOT-MARIE-TOOTH_DISEASE..TYPE_2I;ALL_PMIDS=11835375|20301462|9222756;ORIGIN=germline;XREFS=GeneReviews:NBK1285|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300|MedGen:C1843251|OMIM:607677|Office_of_Rare_Diseases:9197|Orphanet:99942;DATES_ORDERED=2002-02-01 +1 161276680 . A T . . START=161276680;STOP=161276680;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14182;RCV=RCV000015246;SCV=SCV000035505;ALLELE_ID=29221;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.266T>A;HGVS_P=NP_000521.2:p.Ile89Asn;MOLECULAR_CONSEQUENCE=NM_000530.7:c.266T>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_21..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Charcot-Marie-Tooth_disease_type_2I|CHARCOT-MARIE-TOOTH_DISEASE..TYPE_2I;ALL_PMIDS=11835375|20301462|9222756;ORIGIN=germline;XREFS=GeneReviews:NBK1285|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300|MedGen:C1843251|OMIM:607677|Office_of_Rare_Diseases:9197|Orphanet:99942;DATES_ORDERED=2002-02-01 1 161276705 . G A . . START=161276705;STOP=161276705;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=208147;RCV=RCV000194363;SCV=SCV000243903;ALLELE_ID=49438;SYMBOL=MPZ;HGVS_C=NM_000530.7:c.241C>T;HGVS_P=NP_000521.2:p.His81Tyr;MOLECULAR_CONSEQUENCE=NM_000530.7:c.241C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_26..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Charcot-Marie-Tooth_disease..demyelinating..type_1b|Charcot-Marie-Tooth_disease..type_IB;ALL_PMIDS=20301384;ORIGIN=germline;XREFS=GeneReviews:NBK1205|Genetic_Alliance:Charcot-Marie-Tooth+Disease+Type+1B/1285|MedGen:C0270912|OMIM:118200|Office_of_Rare_Diseases:1246|Orphanet:101082|SNOMED_CT:42986003;DATES_ORDERED=2015-03-26 1 161599693 . T C . . START=161599693;STOP=161599693;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=36924;RCV=RCV000030607;SCV=SCV000053285;ALLELE_ID=45587;SYMBOL=FCGR3B;HGVS_C=NM_000570.4:c.194A>G;HGVS_P=NP_000561.3:p.Asn65Ser;MOLECULAR_CONSEQUENCE=NM_000570.4:c.194A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..1989;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Neutrophil-specific_antigens_na1/na2|NEUTROPHIL-SPECIFIC_ANTIGENS_NA1/NA2;ALL_PMIDS=2478590;ORIGIN=germline;XREFS=MedGen:C4017227;DATES_ORDERED=1989-11-01 1 171076966 . G A . . START=171076966;STOP=171076966;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=16318|217371;RCV=RCV000017711|RCV000201276|RCV000201278;SCV=SCV000037988|SCV000256060|SCV000256061;ALLELE_ID=38476;SYMBOL=FMO3;HGVS_C=NM_006894.5:c.472G>A;HGVS_P=NP_008825.4:p.Glu158Lys;MOLECULAR_CONSEQUENCE=NM_001002294.2:c.472G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Trimethylaminuria..mild|TRIMETHYLAMINURIA..MILD|Trimethylaminuria;ALL_PMIDS=10485731|10896299|11809920|20301282|22126753|19321370;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=MedGen:C4016101|GeneReviews:NBK1103|Genetic_Alliance:Trimethylaminuria/7223|Genetic_Testing_Registry_(GTR):GTR000505067|Genetic_Testing_Registry_(GTR):GTR000518973|Genetic_Testing_Registry_(GTR):GTR000520120|MedGen:C0342739|OMIM:602079|Office_of_Rare_Diseases:6447|SNOMED_CT:237959005;DATES_ORDERED=1999-09-04|2015-10-01 1 171077295 . T C . . START=171077295;STOP=171077295;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217371;RCV=RCV000201278;SCV=SCV000256061;ALLELE_ID=214011;SYMBOL=FMO3;HGVS_C=NM_006894.5:c.560T>C;HGVS_P=NP_008825.4:p.Val187Ala;MOLECULAR_CONSEQUENCE=NM_001002294.2:c.560T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Trimethylaminuria;ALL_PMIDS=19321370|20301282|22126753;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1103|Genetic_Alliance:Trimethylaminuria/7223|Genetic_Testing_Registry_(GTR):GTR000505067|Genetic_Testing_Registry_(GTR):GTR000518973|Genetic_Testing_Registry_(GTR):GTR000520120|MedGen:C0342739|OMIM:602079|Office_of_Rare_Diseases:6447|SNOMED_CT:237959005;DATES_ORDERED=2015-10-01 -1 171083242 . A G . . START=171083242;STOP=171083242;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=16318;RCV=RCV000017711|RCV000201276;SCV=SCV000037988|SCV000256060;ALLELE_ID=31357;SYMBOL=FMO3;HGVS_C=NM_006894.5:c.923A>G;HGVS_P=NP_008825.4:p.Glu308Gly;MOLECULAR_CONSEQUENCE=NM_001002294.2:c.923A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Trimethylaminuria..mild|TRIMETHYLAMINURIA..MILD|Trimethylaminuria;ALL_PMIDS=10485731|10896299|11809920|20301282|22126753;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=MedGen:C4016101|GeneReviews:NBK1103|Genetic_Alliance:Trimethylaminuria/7223|Genetic_Testing_Registry_(GTR):GTR000505067|Genetic_Testing_Registry_(GTR):GTR000518973|Genetic_Testing_Registry_(GTR):GTR000520120|MedGen:C0342739|OMIM:602079|Office_of_Rare_Diseases:6447|SNOMED_CT:237959005;DATES_ORDERED=1999-09-04|2015-10-01 +1 171083242 . A G . . START=171083242;STOP=171083242;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=16318;RCV=RCV000017711|RCV000201276;SCV=SCV000037988|SCV000256060;ALLELE_ID=31357;SYMBOL=FMO3;HGVS_C=NM_006894.5:c.923A>G;HGVS_P=NP_008825.4:p.Glu308Gly;MOLECULAR_CONSEQUENCE=NM_001002294.2:c.923A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Trimethylaminuria..mild|TRIMETHYLAMINURIA..MILD|Trimethylaminuria;ALL_PMIDS=10485731|10896299|11809920|20301282|22126753;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=MedGen:C4016101|GeneReviews:NBK1103|Genetic_Alliance:Trimethylaminuria/7223|Genetic_Testing_Registry_(GTR):GTR000505067|Genetic_Testing_Registry_(GTR):GTR000518973|Genetic_Testing_Registry_(GTR):GTR000520120|MedGen:C0342739|OMIM:602079|Office_of_Rare_Diseases:6447|SNOMED_CT:237959005;DATES_ORDERED=1999-09-04|2015-10-01 1 179545050 . C A . . START=179545050;STOP=179545050;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=225143;RCV=RCV000210779;SCV=SCV000266491;ALLELE_ID=227036;SYMBOL=NPHS2;HGVS_C=NM_014625.3:c.-51G>T;MOLECULAR_CONSEQUENCE=NM_014625.3:c.-51G>T:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Human_Genetics_Disease_in_Children_–_Taif_University..Taif_University;SUBMITTERS_ORDERED=Human_Genetics_Disease_in_Children_–_Taif_University..Taif_University;ALL_TRAITS=Nephrotic_syndrome..idiopathic..steroid-resistant;ORIGIN=unknown;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+idiopathic%2C+steroid-resistant/5149|MedGen:C1868672|OMIM:600995|Office_of_Rare_Diseases:3946|Orphanet:656;DATES_ORDERED=2016-01-01 1 179545051 . G C . . START=179545051;STOP=179545051;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=225143;RCV=RCV000210779;SCV=SCV000266491;ALLELE_ID=227037;SYMBOL=NPHS2;HGVS_C=NM_014625.3:c.-52C>G;MOLECULAR_CONSEQUENCE=NM_014625.3:c.-52C>G:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Human_Genetics_Disease_in_Children_–_Taif_University..Taif_University;SUBMITTERS_ORDERED=Human_Genetics_Disease_in_Children_–_Taif_University..Taif_University;ALL_TRAITS=Nephrotic_syndrome..idiopathic..steroid-resistant;ORIGIN=unknown;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+idiopathic%2C+steroid-resistant/5149|MedGen:C1868672|OMIM:600995|Office_of_Rare_Diseases:3946|Orphanet:656;DATES_ORDERED=2016-01-01 1 183543642 . T C . . START=183543642;STOP=183543642;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=2240;RCV=RCV000002328;SCV=SCV000022486;ALLELE_ID=38423;SYMBOL=NCF2;HGVS_C=NM_000433.3:c.481A>G;HGVS_P=NP_000424.2:p.Lys161Glu;MOLECULAR_CONSEQUENCE=NM_000433.3:c.481A>G:missense_variant|NM_001190789.1:c.366+3092A>G:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_24..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Chronic_granulomatous_disease..autosomal_recessive_cytochrome_b-positive..type_2|GRANULOMATOUS_DISEASE..CHRONIC..AUTOSOMAL_RECESSIVE..CYTOCHROME_b-POSITIVE..TYPE_II;ALL_PMIDS=22876374|9070911;ORIGIN=germline;XREFS=GeneReviews:NBK99496|Genetic_Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977|MedGen:C1856245|OMIM:233710|Orphanet:379;DATES_ORDERED=1997-02-24 1 183543644 . T A . . START=183543644;STOP=183543644;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=2240;RCV=RCV000002328;SCV=SCV000022486;ALLELE_ID=17279;SYMBOL=NCF2;HGVS_C=NM_000433.3:c.479A>T;HGVS_P=NP_000424.2:p.Asp160Val;MOLECULAR_CONSEQUENCE=NM_000433.3:c.479A>T:missense_variant|NM_001190789.1:c.366+3090A>T:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_24..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Chronic_granulomatous_disease..autosomal_recessive_cytochrome_b-positive..type_2|GRANULOMATOUS_DISEASE..CHRONIC..AUTOSOMAL_RECESSIVE..CYTOCHROME_b-POSITIVE..TYPE_II;ALL_PMIDS=22876374|9070911;ORIGIN=germline;XREFS=GeneReviews:NBK99496|Genetic_Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977|MedGen:C1856245|OMIM:233710|Orphanet:379;DATES_ORDERED=1997-02-24 +1 207627693 . T C . . START=207627693;STOP=207627693;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=17065;RCV=RCV000018594;SCV=SCV000038877;ALLELE_ID=472254;SYMBOL=CR2;HGVS_C=NM_001006658.2:c.-71T>C;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_06..2007;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Systemic_lupus_erythematosus_9|SYSTEMIC_LUPUS_ERYTHEMATOSUS..SUSCEPTIBILITY_TO..9;ALL_PMIDS=17360460;ORIGIN=germline;XREFS=Genetics_Home_Reference:systemic-lupus-erythematosus|MedGen:C1970455|OMIM:120650.0001|OMIM:610927;DATES_ORDERED=2007-03-06 +1 207646322 . G A . . START=207646322;STOP=207646322;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=17065;RCV=RCV000018594;SCV=SCV000038877;ALLELE_ID=389365;SYMBOL=CR2;HGVS_C=NM_001006658.2:c.1776G>A;HGVS_P=NP_001006659.1:p.Leu592_eq_;MOLECULAR_CONSEQUENCE=NM_001006658.2:c.1776G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_28..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Systemic_lupus_erythematosus_9|SYSTEMIC_LUPUS_ERYTHEMATOSUS..SUSCEPTIBILITY_TO..9;ALL_PMIDS=17360460;ORIGIN=germline;XREFS=Genetics_Home_Reference:systemic-lupus-erythematosus|MedGen:C1970455|OMIM:120650.0001|OMIM:610927;DATES_ORDERED=2007-03-06 +1 207646462 . G A . . START=207646462;STOP=207646462;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=17065;RCV=RCV000018594;SCV=SCV000038877;ALLELE_ID=389363;SYMBOL=CR2;HGVS_C=NM_001006658.2:c.1916G>A;HGVS_P=NP_001006659.1:p.Ser639Asn;MOLECULAR_CONSEQUENCE=NM_001006658.2:c.1916G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_28..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Systemic_lupus_erythematosus_9|SYSTEMIC_LUPUS_ERYTHEMATOSUS..SUSCEPTIBILITY_TO..9;ALL_PMIDS=17360460;ORIGIN=germline;XREFS=Genetics_Home_Reference:systemic-lupus-erythematosus|MedGen:C1970455|OMIM:120650.0001|OMIM:610927;DATES_ORDERED=2007-03-06 1 209880216 . C CA . . START=209880218;STOP=209880218;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=8911;RCV=RCV000009466;SCV=SCV000029684;ALLELE_ID=23950;SYMBOL=HSD11B1;HGVS_C=NM_181755.2:c.331+53_331+54insA;MOLECULAR_CONSEQUENCE=NM_181755.2:c.331+53_331+54insA:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2007;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cortisone_reductase_deficiency_2|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=12858176|15827106|16091483|16817821|17062770;ORIGIN=germline;XREFS=Genetic_Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103|MedGen:C3553382|OMIM:614662|Orphanet:168588;DATES_ORDERED=2007-01-01 1 209880259 . T G . . START=209880259;STOP=209880259;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=8911;RCV=RCV000009466;SCV=SCV000029684;ALLELE_ID=76328;SYMBOL=HSD11B1;HGVS_C=NM_181755.2:c.332-29T>G;MOLECULAR_CONSEQUENCE=NM_181755.2:c.332-29T>G:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2007;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cortisone_reductase_deficiency_2|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=12858176|15827106|16091483|16817821|17062770;ORIGIN=germline;XREFS=Genetic_Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103|MedGen:C3553382|OMIM:614662|Orphanet:168588;DATES_ORDERED=2007-01-01 -1 211093297 . C G . . START=211093297;STOP=211093297;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=203434;RCV=RCV000185594;SCV=SCV000238503;ALLELE_ID=181518;SYMBOL=KCNH1;HGVS_C=NM_172362.2:c.1147G>C;HGVS_P=NP_758872.1:p.Val383Leu;MOLECULAR_CONSEQUENCE=NM_172362.2:c.1147G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Zimmermann-Laband_syndrome_1|ZIMMERMANN-LABAND_SYNDROME_1;ALL_PMIDS=18541964|25915598;ORIGIN=germline;XREFS=Gene:353173|Genetic_Alliance:Laband+syndrome/4062|MedGen:CN032818|OMIM:135500|Orphanet:3473;DATES_ORDERED=2015-06-01 -1 211093389 . G T . . START=211093389;STOP=211093389;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=203434;RCV=RCV000185594;SCV=SCV000238503;ALLELE_ID=181521;SYMBOL=KCNH1;HGVS_C=NM_002238.3:c.974C>A;HGVS_P=NP_758872.1:p.Ser352Tyr;MOLECULAR_CONSEQUENCE=NM_172362.2:c.1055C>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Zimmermann-Laband_syndrome_1|ZIMMERMANN-LABAND_SYNDROME_1;ALL_PMIDS=18541964|25915598;ORIGIN=germline;XREFS=Gene:353173|Genetic_Alliance:Laband+syndrome/4062|MedGen:CN032818|OMIM:135500|Orphanet:3473;DATES_ORDERED=2015-06-01 -1 227170697 . C T . . START=227170697;STOP=227170697;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217876;RCV=RCV000201953;SCV=SCV000256872;ALLELE_ID=214530;SYMBOL=COQ8A;HGVS_C=NM_020247.4:c.1042C>T;HGVS_P=NP_064632.2:p.Arg348Ter;MOLECULAR_CONSEQUENCE=NM_020247.4:c.1042C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_23..2017;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Coenzyme_Q10_deficiency..primary..4;ALL_PMIDS=18319072|20580948|28125198;ORIGIN=germline;XREFS=GeneReviews:NBK410087|Genetic_Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342|MedGen:C2677589|OMIM:612016|Orphanet:139485;DATES_ORDERED=2014-06-16 +1 211093297 . C G . . START=211093297;STOP=211093297;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=203434;RCV=RCV000185594;SCV=SCV000238503;ALLELE_ID=181518;SYMBOL=KCNH1;HGVS_C=NM_172362.2:c.1147G>C;HGVS_P=NP_758872.1:p.Val383Leu;MOLECULAR_CONSEQUENCE=NM_172362.2:c.1147G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Zimmermann-Laband_syndrome_1|ZIMMERMANN-LABAND_SYNDROME_1;ALL_PMIDS=18541964|25915598;ORIGIN=germline;XREFS=Gene:353173|Genetic_Alliance:Laband+syndrome/4062|MedGen:CN032818|OMIM:135500|Orphanet:3473;DATES_ORDERED=2015-06-01 +1 211093389 . G T . . START=211093389;STOP=211093389;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=203434;RCV=RCV000185594;SCV=SCV000238503;ALLELE_ID=181521;SYMBOL=KCNH1;HGVS_C=NM_002238.3:c.974C>A;HGVS_P=NP_758872.1:p.Ser352Tyr;MOLECULAR_CONSEQUENCE=NM_172362.2:c.1055C>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Zimmermann-Laband_syndrome_1|ZIMMERMANN-LABAND_SYNDROME_1;ALL_PMIDS=18541964|25915598;ORIGIN=germline;XREFS=Gene:353173|Genetic_Alliance:Laband+syndrome/4062|MedGen:CN032818|OMIM:135500|Orphanet:3473;DATES_ORDERED=2015-06-01 +1 227170697 . C T . . START=227170697;STOP=227170697;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217876;RCV=RCV000201953;SCV=SCV000256872;ALLELE_ID=214530;SYMBOL=COQ8A;HGVS_C=NM_020247.4:c.1042C>T;HGVS_P=NP_064632.2:p.Arg348Ter;MOLECULAR_CONSEQUENCE=NM_020247.4:c.1042C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..2017;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Coenzyme_Q10_deficiency..primary..4;ALL_PMIDS=18319072|20580948|28125198;ORIGIN=germline;XREFS=GeneReviews:NBK410087|Genetic_Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342|MedGen:C2677589|OMIM:612016|Orphanet:139485;DATES_ORDERED=2014-06-16 1 227173033 . G A . . START=227173033;STOP=227173033;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217876;RCV=RCV000201953;SCV=SCV000256872;ALLELE_ID=18675;SYMBOL=COQ8A;HGVS_C=NM_020247.4:c.1651G>A;HGVS_P=NP_064632.2:p.Glu551Lys;MOLECULAR_CONSEQUENCE=NM_020247.4:c.1651G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_11..2016;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Coenzyme_Q10_deficiency..primary..4;ALL_PMIDS=18319072|20580948|28125198;ORIGIN=germline;XREFS=GeneReviews:NBK410087|Genetic_Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342|MedGen:C2677589|OMIM:612016|Orphanet:139485;DATES_ORDERED=2014-06-16 1 229568534 . G A . . START=229568534;STOP=229568534;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=18293;RCV=RCV000019955;SCV=SCV000040253;ALLELE_ID=38498;SYMBOL=ACTA1;HGVS_C=NM_001100.3:c.223C>T;HGVS_P=NP_001091.1:p.His75Tyr;MOLECULAR_CONSEQUENCE=NM_001100.3:c.223C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2009;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Nemaline_myopathy_3|NEMALINE_MYOPATHY_3;ALL_PMIDS=19553116|20301465|22510848;ORIGIN=germline;XREFS=GeneReviews:NBK1288|Genetic_Alliance:Nemaline+myopathy+3/5125|MedGen:C1834336|OMIM:161800|Office_of_Rare_Diseases:10111;DATES_ORDERED=2009-07-01 1 229568535 . C A . . START=229568535;STOP=229568535;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=18293;RCV=RCV000019955;SCV=SCV000040253;ALLELE_ID=33332;SYMBOL=ACTA1;HGVS_C=NM_001100.3:c.222G>T;HGVS_P=NP_001091.1:p.Glu74Asp;MOLECULAR_CONSEQUENCE=NM_001100.3:c.222G>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2009;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Nemaline_myopathy_3|NEMALINE_MYOPATHY_3;ALL_PMIDS=19553116|20301465|22510848;ORIGIN=germline;XREFS=GeneReviews:NBK1288|Genetic_Alliance:Nemaline+myopathy+3/5125|MedGen:C1834336|OMIM:161800|Office_of_Rare_Diseases:10111;DATES_ORDERED=2009-07-01 -2 47273468 . A G . . START=47273468;STOP=47273468;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=190388;RCV=RCV000170526;SCV=SCV000223091;ALLELE_ID=188215;SYMBOL=TTC7A;HGVS_C=NM_020458.3:c.1817A>G;HGVS_P=NP_065191.2:p.Lys606Arg;MOLECULAR_CONSEQUENCE=NM_001288953.1:c.1715A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_25..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_gastrointestinal_atresias|GASTROINTESTINAL_DEFECTS_AND_IMMUNODEFICIENCY_SYNDROME;ALL_PMIDS=23830146;ORIGIN=germline;XREFS=MedGen:C0220744|OMIM:243150|OMIM:609332.0001|OMIM:609332.0002|OMIM:609332.0003|OMIM:609332.0004|OMIM:609332.0005|OMIM:609332.0006|OMIM:609332.0007|OMIM:609332.0008|OMIM:609332.0009|OMIM:609332.0010|OMIM:609332.0011|OMIM:609332.0012|OMIM:609332.0013|OMIM:609332.0014|OMIM:609332.0015|Office_of_Rare_Diseases:3013|Orphanet:2300|Orphanet:436252|SNOMED_CT:95472001;DATES_ORDERED=2013-09-01 -2 47277182 . T C . . START=47277182;STOP=47277182;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=190388;RCV=RCV000170526;SCV=SCV000223091;ALLELE_ID=188216;SYMBOL=TTC7A;HGVS_C=NM_020458.3:c.2014T>C;HGVS_P=NP_065191.2:p.Ser672Pro;MOLECULAR_CONSEQUENCE=NM_001288953.1:c.1912T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_25..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_gastrointestinal_atresias|GASTROINTESTINAL_DEFECTS_AND_IMMUNODEFICIENCY_SYNDROME;ALL_PMIDS=23830146;ORIGIN=germline;XREFS=MedGen:C0220744|OMIM:243150|OMIM:609332.0001|OMIM:609332.0002|OMIM:609332.0003|OMIM:609332.0004|OMIM:609332.0005|OMIM:609332.0006|OMIM:609332.0007|OMIM:609332.0008|OMIM:609332.0009|OMIM:609332.0010|OMIM:609332.0011|OMIM:609332.0012|OMIM:609332.0013|OMIM:609332.0014|OMIM:609332.0015|Office_of_Rare_Diseases:3013|Orphanet:2300|Orphanet:436252|SNOMED_CT:95472001;DATES_ORDERED=2013-09-01 +1 231557255 . C G . . START=231557255;STOP=231557255;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=156155;RCV=RCV000144173;SCV=SCV000189250;ALLELE_ID=165954;SYMBOL=EGLN1;HGVS_C=NM_022051.2:c.380G>C;HGVS_P=NP_071334.1:p.Cys127Ser;MOLECULAR_CONSEQUENCE=NM_022051.2:c.380G>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign..Affects;CLINICAL_SIGNIFICANCE_ORDERED=affects;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hemoglobin..high_altitude_adaptation|HEMOGLOBIN..HIGH_ALTITUDE_ADAPTATION;ALL_PMIDS=25129147;ORIGIN=germline;XREFS=MedGen:C1836778|OMIM:609070;DATES_ORDERED=2014-09-01 +1 231557623 . G C . . START=231557623;STOP=231557623;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=156155;RCV=RCV000144173;SCV=SCV000189250;ALLELE_ID=227498;SYMBOL=EGLN1;HGVS_C=NM_022051.2:c.12C>G;HGVS_P=NP_071334.1:p.Asp4Glu;MOLECULAR_CONSEQUENCE=NM_022051.2:c.12C>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=affects;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_12..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hemoglobin..high_altitude_adaptation|HEMOGLOBIN..HIGH_ALTITUDE_ADAPTATION;ALL_PMIDS=25129147;ORIGIN=germline;XREFS=MedGen:C1836778|OMIM:609070;DATES_ORDERED=2014-09-01 +2 45169449 . G A . . START=45169449;STOP=45169449;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441532;RCV=RCV000006470;SCV=SCV000026653;ALLELE_ID=21137;SYMBOL=SIX3;HGVS_C=NM_005413.3:c.206G>A;HGVS_P=NP_005404.1:p.Gly69Asp;MOLECULAR_CONSEQUENCE=NM_005413.3:c.206G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_01..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Holoprosencephaly_2|HOLOPROSENCEPHALY_2;ALL_PMIDS=17001667|20301702;ORIGIN=germline;XREFS=GeneReviews:NBK1530|Genetic_Alliance:Holoprosencephaly+2/8559|MedGen:C1834877|OMIM:157170|Orphanet:2162;DATES_ORDERED=2006-12-01 +2 47273468 . A G . . START=47273468;STOP=47273468;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=190388;RCV=RCV000170526;SCV=SCV000223091;ALLELE_ID=188215;SYMBOL=TTC7A;HGVS_C=NM_020458.3:c.1817A>G;HGVS_P=NP_065191.2:p.Lys606Arg;MOLECULAR_CONSEQUENCE=NM_001288953.1:c.1715A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_24..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_gastrointestinal_atresias|GASTROINTESTINAL_DEFECTS_AND_IMMUNODEFICIENCY_SYNDROME;ALL_PMIDS=23830146;ORIGIN=germline;XREFS=MedGen:C0220744|OMIM:243150|OMIM:609332.0001|OMIM:609332.0002|OMIM:609332.0003|OMIM:609332.0004|OMIM:609332.0005|OMIM:609332.0006|OMIM:609332.0007|OMIM:609332.0008|OMIM:609332.0009|OMIM:609332.0010|OMIM:609332.0011|OMIM:609332.0012|OMIM:609332.0013|OMIM:609332.0014|OMIM:609332.0015|Office_of_Rare_Diseases:3013|Orphanet:2300|Orphanet:436252|SNOMED_CT:95472001;DATES_ORDERED=2013-09-01 +2 47277182 . T C . . START=47277182;STOP=47277182;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=190388;RCV=RCV000170526;SCV=SCV000223091;ALLELE_ID=188216;SYMBOL=TTC7A;HGVS_C=NM_020458.3:c.2014T>C;HGVS_P=NP_065191.2:p.Ser672Pro;MOLECULAR_CONSEQUENCE=NM_001288953.1:c.1912T>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_24..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_gastrointestinal_atresias|GASTROINTESTINAL_DEFECTS_AND_IMMUNODEFICIENCY_SYNDROME;ALL_PMIDS=23830146;ORIGIN=germline;XREFS=MedGen:C0220744|OMIM:243150|OMIM:609332.0001|OMIM:609332.0002|OMIM:609332.0003|OMIM:609332.0004|OMIM:609332.0005|OMIM:609332.0006|OMIM:609332.0007|OMIM:609332.0008|OMIM:609332.0009|OMIM:609332.0010|OMIM:609332.0011|OMIM:609332.0012|OMIM:609332.0013|OMIM:609332.0014|OMIM:609332.0015|Office_of_Rare_Diseases:3013|Orphanet:2300|Orphanet:436252|SNOMED_CT:95472001;DATES_ORDERED=2013-09-01 2 74692046 . C T . . START=74692046;STOP=74692046;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=375688;RCV=RCV000114957;SCV=SCV000148867;ALLELE_ID=214379;SYMBOL=MOGS;HGVS_C=NM_006302.2:c.329G>A;HGVS_P=NP_006293.2:p.Arg110His;MOLECULAR_CONSEQUENCE=NM_006302.2:c.329G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Congenital_disorder_of_glycosylation_type_2B|CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIb;ALL_PMIDS=20301507|24716661;ORIGIN=germline;XREFS=Genetic_Alliance:CONGENITAL+DISORDER+OF+GLYCOSYLATION%2C+TYPE+IIb/8057|MedGen:C1853736|OMIM:606056|Office_of_Rare_Diseases:10767|Orphanet:79330;DATES_ORDERED=2014-04-24 2 74692310 . G T . . START=74692310;STOP=74692310;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=375688;RCV=RCV000114957;SCV=SCV000148867;ALLELE_ID=132608;SYMBOL=MOGS;HGVS_C=NM_006302.2:c.65C>A;HGVS_P=NP_006293.2:p.Ala22Glu;MOLECULAR_CONSEQUENCE=NM_001146158.1:c.-59+131C>A:intron_variant|NM_006302.2:c.65C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_24..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Congenital_disorder_of_glycosylation_type_2B|CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIb;ALL_PMIDS=20301507|24716661;ORIGIN=germline;XREFS=Genetic_Alliance:CONGENITAL+DISORDER+OF+GLYCOSYLATION%2C+TYPE+IIb/8057|MedGen:C1853736|OMIM:606056|Office_of_Rare_Diseases:10767|Orphanet:79330;DATES_ORDERED=2014-04-24 2 86444224 . T C . . START=86444224;STOP=86444224;STRAND=-;VARIATION_TYPE=Distinct_chromosomes;VARIATION_ID=157528;RCV=RCV000144873;SCV=SCV000172145;ALLELE_ID=167389;SYMBOL=REEP1;HGVS_C=NM_001164730.1:c.626A>G;HGVS_P=NP_001158202.1:p.Ter209Trp;MOLECULAR_CONSEQUENCE=NM_001164730.1:c.626A>G:stop_lost|NM_001164732.1:c.370A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..2013;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|spasticity|Charcot-Marie-Tooth_disease;ALL_PMIDS=20301532|25025039;ORIGIN=tested-inconclusive;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01 2 128412067 . G A . . START=128412067;STOP=128412067;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=222901;RCV=RCV000208555;SCV=SCV000264322;ALLELE_ID=224616;SYMBOL=LIMS2;HGVS_C=NM_001161404.1:c.275C>T;HGVS_P=NP_001154876.1:p.Pro92Leu;MOLECULAR_CONSEQUENCE=NM_001161404.1:c.275C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_12..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Muscular_dystrophy..limb-girdle..type_2W|MUSCULAR_DYSTROPHY..LIMB-GIRDLE..TYPE_2W_(1_family);ALL_PMIDS=25589244;ORIGIN=germline;XREFS=MedGen:C4225192|OMIM:616827;DATES_ORDERED=2016-08-12 2 128412081 . G C . . START=128412081;STOP=128412081;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=222901;RCV=RCV000208555;SCV=SCV000264322;ALLELE_ID=224615;SYMBOL=LIMS2;HGVS_C=NM_001136037.2:c.342C>G;HGVS_P=NP_001154876.1:p.Asn87Lys;MOLECULAR_CONSEQUENCE=NM_001161404.1:c.261C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_12..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Muscular_dystrophy..limb-girdle..type_2W|MUSCULAR_DYSTROPHY..LIMB-GIRDLE..TYPE_2W_(1_family);ALL_PMIDS=25589244;ORIGIN=germline;XREFS=MedGen:C4225192|OMIM:616827;DATES_ORDERED=2016-08-12 +2 167129256 . C A . . START=167129256;STOP=167129256;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=441531;RCV=RCV000023304;SCV=SCV000044595;ALLELE_ID=39316;SYMBOL=SCN9A;HGVS_C=NM_002977.3:c.2971G>T;HGVS_P=NP_002968.1:p.Val991Leu;MOLECULAR_CONSEQUENCE=NM_002977.3:c.2971G>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_22..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Small_fiber_neuropathy|NEUROPATHY..SMALL_FIBER;ALL_PMIDS=21698661;ORIGIN=germline;XREFS=GeneTests:320010|Genetics_Home_Reference:small-fiber-neuropathy|MedGen:C3276709|OMIM:133020;DATES_ORDERED=2012-01-01 +2 167133540 . T G . . START=167133540;STOP=167133540;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=441531;RCV=RCV000023304;SCV=SCV000044595;ALLELE_ID=39315;SYMBOL=SCN9A;HGVS_C=NM_002977.3:c.2794A>C;HGVS_P=NP_002968.1:p.Met932Leu;MOLECULAR_CONSEQUENCE=NM_002977.3:c.2794A>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_22..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Small_fiber_neuropathy|NEUROPATHY..SMALL_FIBER;ALL_PMIDS=21698661;ORIGIN=germline;XREFS=GeneTests:320010|Genetics_Home_Reference:small-fiber-neuropathy|MedGen:C3276709|OMIM:133020;DATES_ORDERED=2012-01-01 2 179395322 . AC A . . START=179395323;STOP=179395323;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=178839;RCV=RCV000155611;SCV=SCV000205319;ALLELE_ID=172806;SYMBOL=TTN;HGVS_C=NM_133378.4:c.98315delG;HGVS_P=NP_001254479.2:p.Gly35340Valfs;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.106019delG:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_27..2013;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Autosomal_recessive_centronuclear_myopathy;ALL_PMIDS=22617344|23975875|24033266;ORIGIN=germline;XREFS=Genetic_Alliance:Autosomal+recessive+centronuclear+myopathy/7787|Genetics_Home_Reference:centronuclear-myopathy|MedGen:C0410204|OMIM:255200|Orphanet:169186|Orphanet:ORPHA169186|SNOMED_CT:240081004;DATES_ORDERED=2013-09-27 2 179434462 . ATGTT A . . START=179434463;STOP=179434466;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=178839;RCV=RCV000155611;SCV=SCV000205319;ALLELE_ID=172708;SYMBOL=TTN;HGVS_C=NM_001267550.2:c.76393_76396delAACA;HGVS_P=NP_001254479.2:p.Asn25465Terfs;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.76393_76396delAACA:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_27..2013;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Autosomal_recessive_centronuclear_myopathy;ALL_PMIDS=22617344|23975875|24033266;ORIGIN=germline;XREFS=Genetic_Alliance:Autosomal+recessive+centronuclear+myopathy/7787|Genetics_Home_Reference:centronuclear-myopathy|MedGen:C0410204|OMIM:255200|Orphanet:169186|Orphanet:ORPHA169186|SNOMED_CT:240081004;DATES_ORDERED=2013-09-27 -2 179472292 . T A . . START=179472292;STOP=179472292;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=179465;RCV=RCV000156254;SCV=SCV000205970;ALLELE_ID=56237;SYMBOL=TTN;HGVS_C=NM_001267550.2:c.53123A>T;HGVS_P=NP_597676.3:p.Lys8768Ile;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.53123A>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_25..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-04 -2 179472293 . T C . . START=179472293;STOP=179472293;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=179465;RCV=RCV000156254;SCV=SCV000205970;ALLELE_ID=173874;SYMBOL=TTN;HGVS_C=NM_001267550.2:c.53122A>G;HGVS_P=NP_001254479.2:p.Lys17708Glu;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.53122A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_31..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-04 -2 189861915 . C T . . START=189861915;STOP=189861915;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=101229;RCV=RCV000087466;SCV=SCV000120353;ALLELE_ID=106974;SYMBOL=COL3A1;HGVS_C=NM_000090.3:c.1786C>T;HGVS_P=NP_000081.1:p.Arg596Ter;MOLECULAR_CONSEQUENCE=NM_000090.3:c.1786C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_19..2017;ALL_SUBMITTERS=Collagen_Diagnostic_Laboratory;SUBMITTERS_ORDERED=Collagen_Diagnostic_Laboratory;ALL_TRAITS=Ehlers-Danlos_syndrome..type_4|Ehlers-Danlos_syndrome..type_4;ALL_PMIDS=20301667|23788249|24882528|25173340|25355838|25356965|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1494|Genetic_Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491|MedGen:C0268338|OMIM:130050|Orphanet:286|SNOMED_CT:17025000;DATES_ORDERED=0000-00-00 +2 179472292 . T A . . START=179472292;STOP=179472292;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=179465;RCV=RCV000156254;SCV=SCV000205970;ALLELE_ID=56237;SYMBOL=TTN;HGVS_C=NM_001267550.2:c.53123A>T;HGVS_P=NP_597676.3:p.Lys8768Ile;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.53123A>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_08..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-04 +2 179472293 . T C . . START=179472293;STOP=179472293;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=179465;RCV=RCV000156254;SCV=SCV000205970;ALLELE_ID=173874;SYMBOL=TTN;HGVS_C=NM_001267550.2:c.53122A>G;HGVS_P=NP_001254479.2:p.Lys17708Glu;MOLECULAR_CONSEQUENCE=NM_001267550.2:c.53122A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_31..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-04 +2 189861915 . C T . . START=189861915;STOP=189861915;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=101229;RCV=RCV000087466;SCV=SCV000120353;ALLELE_ID=106974;SYMBOL=COL3A1;HGVS_C=NM_000090.3:c.1786C>T;HGVS_P=NP_000081.1:p.Arg596Ter;MOLECULAR_CONSEQUENCE=NM_000090.3:c.1786C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_19..2017;ALL_SUBMITTERS=Collagen_Diagnostic_Laboratory;SUBMITTERS_ORDERED=Collagen_Diagnostic_Laboratory;ALL_TRAITS=Ehlers-Danlos_syndrome..type_4|Ehlers-Danlos_syndrome..type_4;ALL_PMIDS=20301667|23788249|24882528|25173340|25355838|25356965|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1494|Genetic_Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491|MedGen:C0268338|OMIM:130050|Orphanet:286|SNOMED_CT:17025000;DATES_ORDERED=0000-00-00 2 189874931 . G A . . START=189874931;STOP=189874931;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=101229;RCV=RCV000087466;SCV=SCV000120353;ALLELE_ID=106975;SYMBOL=COL3A1;HGVS_C=NM_000090.3:c.3851G>A;HGVS_P=NP_000081.1:p.Gly1284Glu;MOLECULAR_CONSEQUENCE=NM_000090.3:c.3851G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Collagen_Diagnostic_Laboratory;SUBMITTERS_ORDERED=Collagen_Diagnostic_Laboratory;ALL_TRAITS=Ehlers-Danlos_syndrome..type_4|Ehlers-Danlos_syndrome..type_4;ALL_PMIDS=20301667|23788249|24882528|25173340|25355838|25356965|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1494|Genetic_Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491|MedGen:C0268338|OMIM:130050|Orphanet:286|SNOMED_CT:17025000;DATES_ORDERED=0000-00-00 -2 201436518 . CAG C . . START=201436522;STOP=201436523;VARIATION_TYPE=Haplotype;VARIATION_ID=375673;RCV=RCV000417144;SCV=SCV000494729;ALLELE_ID=362513;SYMBOL=CLDN14;HGVS_C=NM_152524.5:c.1453_1454delGA;HGVS_P=NP_689737.4:p.Glu485Lysfs;MOLECULAR_CONSEQUENCE=NM_152524.5:c.1453_1454delGA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_30..2016;ALL_SUBMITTERS=Laboratory_of_Molecular_Genetics..National_Institutes_of_Health;SUBMITTERS_ORDERED=Laboratory_of_Molecular_Genetics..National_Institutes_of_Health;ALL_TRAITS=Perrault_Syndrome|Deafness|Primary_ovarian_insufficiency|Perrault_Syndrome;ORIGIN=germline;XREFS=Illumina_Clinical_Services_Laboratory..Illumina:37522|MedGen:CN239459;DATES_ORDERED=2016-08-30 +2 201436518 . CAG C . . START=201436522;STOP=201436523;VARIATION_TYPE=Haplotype;VARIATION_ID=375673;RCV=RCV000417144;SCV=SCV000494729;ALLELE_ID=362513;SYMBOL=CLDN14;HGVS_C=NM_152524.5:c.1453_1454delGA;HGVS_P=NP_689737.4:p.Glu485Lysfs;MOLECULAR_CONSEQUENCE=NM_152524.5:c.1453_1454delGA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_30..2016;ALL_SUBMITTERS=Laboratory_of_Molecular_Genetics..National_Institutes_of_Health;SUBMITTERS_ORDERED=Laboratory_of_Molecular_Genetics..National_Institutes_of_Health;ALL_TRAITS=Perrault_Syndrome|Deafness|Primary_ovarian_insufficiency|Perrault_Syndrome;ORIGIN=germline;XREFS=Illumina_Clinical_Services_Laboratory..Illumina:37522|MedGen:CN239459;DATES_ORDERED=2016-08-30 2 202574623 . G A . . START=202574623;STOP=202574623;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=217879;RCV=RCV000201952;SCV=SCV000256875;ALLELE_ID=214531;SYMBOL=ALS2;HGVS_C=NM_020919.3:c.4261C>T;HGVS_P=NP_065970.2:p.Arg1421Ter;MOLECULAR_CONSEQUENCE=NM_020919.3:c.4261C>T:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Infantile-onset_ascending_hereditary_spastic_paralysis;ALL_PMIDS=12919135|18394004|20301421;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1243|Genetic_Alliance:Infantile-onset+ascending+hereditary+spastic+paralysis/3819|Genetic_Testing_Registry_(GTR):GTR000249543|Genetic_Testing_Registry_(GTR):GTR000514976|Genetic_Testing_Registry_(GTR):GTR000528540|MedGen:C1846588|OMIM:607225|Office_of_Rare_Diseases:4914|Orphanet:293168;DATES_ORDERED=2014-07-14 2 202588048 . C G . . START=202588048;STOP=202588048;STRAND=-;VARIATION_TYPE=CompoundHeterozygote;VARIATION_ID=42162;RCV=RCV000034989;SCV=SCV000058622;ALLELE_ID=205072;SYMBOL=ALS2;HGVS_C=NM_020919.3:c.3624+5G>C;MOLECULAR_CONSEQUENCE=NM_020919.3:c.3624+5G>C:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2011;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_2|ALS2-Related_Disorders;ALL_PMIDS=20018642|20301421|20301623;ORIGIN=not_provided;XREFS=GeneReviews:NBK1243|Genetic_Alliance:Amyotrophic+Lateral+Sclerosis+Type+2/404|MedGen:C1859807|OMIM:205100|OMIM:606352.0001|OMIM:606352.0011|OMIM:606352.0016|OMIM:606352.0017|Office_of_Rare_Diseases:9470|Orphanet:300605;DATES_ORDERED=2011-02-10 2 202588111 . AC A . . START=202588112;STOP=202588112;STRAND=-;VARIATION_TYPE=CompoundHeterozygote;VARIATION_ID=42162;RCV=RCV000034989;SCV=SCV000058622;ALLELE_ID=51328;SYMBOL=ALS2;HGVS_C=NM_020919.3:c.3565delG;HGVS_P=NP_065970.2:p.Val1189Trpfs;MOLECULAR_CONSEQUENCE=NM_020919.3:c.3565delG:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2011;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Amyotrophic_lateral_sclerosis_type_2|ALS2-Related_Disorders;ALL_PMIDS=20018642|20301421|20301623;ORIGIN=not_provided;XREFS=GeneReviews:NBK1243|Genetic_Alliance:Amyotrophic+Lateral+Sclerosis+Type+2/404|MedGen:C1859807|OMIM:205100|OMIM:606352.0001|OMIM:606352.0011|OMIM:606352.0016|OMIM:606352.0017|Office_of_Rare_Diseases:9470|Orphanet:300605;DATES_ORDERED=2011-02-10 @@ -211,60 +219,70 @@ 2 202611376 . G T . . START=202611376;STOP=202611376;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=217879;RCV=RCV000201952;SCV=SCV000256875;ALLELE_ID=214532;SYMBOL=ALS2;HGVS_C=NM_020919.3:c.1911C>A;HGVS_P=NP_065970.2:p.Tyr637Ter;MOLECULAR_CONSEQUENCE=NM_020919.3:c.1911C>A:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Infantile-onset_ascending_hereditary_spastic_paralysis;ALL_PMIDS=12919135|18394004|20301421;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1243|Genetic_Alliance:Infantile-onset+ascending+hereditary+spastic+paralysis/3819|Genetic_Testing_Registry_(GTR):GTR000249543|Genetic_Testing_Registry_(GTR):GTR000514976|Genetic_Testing_Registry_(GTR):GTR000528540|MedGen:C1846588|OMIM:607225|Office_of_Rare_Diseases:4914|Orphanet:293168;DATES_ORDERED=2014-07-14 2 202611461 . T TCACTG . . START=202611462;STOP=202611466;STRAND=-;VARIATION_TYPE=CompoundHeterozygote;VARIATION_ID=42138;RCV=RCV000034965;SCV=SCV000058589;ALLELE_ID=51304;SYMBOL=ALS2;HGVS_C=NM_020919.3:c.1821_1825dupCAGTG;HGVS_P=NP_065970.2:p.Glu609Alafs;MOLECULAR_CONSEQUENCE=NM_020919.3:c.1821_1825dupCAGTG:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2011;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Infantile-onset_ascending_hereditary_spastic_paralysis|ALS2-Related_Disorders;ALL_PMIDS=18394004|20301421;DISEASE_MECHANISM=loss_of_function;ORIGIN=not_provided;XREFS=GeneReviews:NBK1243|Genetic_Alliance:Infantile-onset+ascending+hereditary+spastic+paralysis/3819|Genetic_Testing_Registry_(GTR):GTR000249543|Genetic_Testing_Registry_(GTR):GTR000514976|Genetic_Testing_Registry_(GTR):GTR000528540|MedGen:C1846588|OMIM:607225|Office_of_Rare_Diseases:4914|Orphanet:293168;DATES_ORDERED=2011-02-10 2 228137806 . G A . . START=228137806;STOP=228137806;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=397582;RCV=RCV000449541;SCV=SCV000537787;ALLELE_ID=384474;SYMBOL=COL4A3;HGVS_C=NM_000091.4:c.1900G>A;HGVS_P=NP_000082.2:p.Gly634Arg;MOLECULAR_CONSEQUENCE=NM_000091.4:c.1900G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;SUBMITTERS_ORDERED=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;ALL_TRAITS=Alport_syndrome..autosomal_recessive;ALL_PMIDS=20301386|22166944;ORIGIN=germline;XREFS=GeneReviews:NBK1207|Genetic_Alliance:Alport+Syndrome+Recessive+Type/337|MedGen:C1567744|OMIM:203780|Orphanet:63|Orphanet:88919;DATES_ORDERED=0000-00-00 -2 228137833 . G A . . START=228137833;STOP=228137833;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=397582;RCV=RCV000449541;SCV=SCV000537787;ALLELE_ID=285718;SYMBOL=COL4A3;HGVS_C=NM_000091.4:c.1927G>A;HGVS_P=NP_000082.2:p.Gly643Ser;MOLECULAR_CONSEQUENCE=NM_000091.4:c.1927G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;SUBMITTERS_ORDERED=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;ALL_TRAITS=Alport_syndrome..autosomal_recessive;ALL_PMIDS=20301386|22166944;ORIGIN=germline;XREFS=GeneReviews:NBK1207|Genetic_Alliance:Alport+Syndrome+Recessive+Type/337|MedGen:C1567744|OMIM:203780|Orphanet:63|Orphanet:88919;DATES_ORDERED=0000-00-00 -2 233348866 . G A . . START=233348866;STOP=233348866;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235817;RCV=RCV000224367;SCV=SCV000281670;ALLELE_ID=48091;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.1252C>T;HGVS_P=NP_004817.2:p.Arg418Cys;MOLECULAR_CONSEQUENCE=NM_004826.3:c.1252C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08 -2 233348866 . G T . . START=233348866;STOP=233348866;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235818;RCV=RCV000224716;SCV=SCV000281671;ALLELE_ID=48089;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.1252C>A;HGVS_P=NP_004817.2:p.Arg418Ser;MOLECULAR_CONSEQUENCE=NM_004826.3:c.1252C>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08 -2 233349179 . T A . . START=233349179;STOP=233349179;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235818;RCV=RCV000224716;SCV=SCV000281671;ALLELE_ID=48090;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.1184+3A>T;MOLECULAR_CONSEQUENCE=NM_004826.3:c.1184+3A>T:intron_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08 +2 228137833 . G A . . START=228137833;STOP=228137833;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=397582;RCV=RCV000449541;SCV=SCV000537787;ALLELE_ID=285718;SYMBOL=COL4A3;HGVS_C=NM_000091.4:c.1927G>A;HGVS_P=NP_000082.2:p.Gly643Ser;MOLECULAR_CONSEQUENCE=NM_000091.4:c.1927G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;SUBMITTERS_ORDERED=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;ALL_TRAITS=Alport_syndrome..autosomal_recessive;ALL_PMIDS=20301386|22166944;ORIGIN=germline;XREFS=GeneReviews:NBK1207|Genetic_Alliance:Alport+Syndrome+Recessive+Type/337|MedGen:C1567744|OMIM:203780|Orphanet:63|Orphanet:88919;DATES_ORDERED=0000-00-00 +2 233348866 . G A . . START=233348866;STOP=233348866;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235817;RCV=RCV000224367;SCV=SCV000281670;ALLELE_ID=48091;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.1252C>T;HGVS_P=NP_004817.2:p.Arg418Cys;MOLECULAR_CONSEQUENCE=NM_004826.3:c.1252C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08 +2 233348866 . G T . . START=233348866;STOP=233348866;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235818;RCV=RCV000224716;SCV=SCV000281671;ALLELE_ID=48089;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.1252C>A;HGVS_P=NP_004817.2:p.Arg418Ser;MOLECULAR_CONSEQUENCE=NM_004826.3:c.1252C>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08 +2 233349179 . T A . . START=233349179;STOP=233349179;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235818;RCV=RCV000224716;SCV=SCV000281671;ALLELE_ID=48090;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.1184+3A>T;MOLECULAR_CONSEQUENCE=NM_004826.3:c.1184+3A>T:intron_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08 2 233349788 . T C . . START=233349788;STOP=233349788;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235820;RCV=RCV000224404;SCV=SCV000281673;ALLELE_ID=237475;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.869A>G;HGVS_P=NP_004817.2:p.Tyr290Cys;MOLECULAR_CONSEQUENCE=NM_004826.3:c.869A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_08..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08 2 233349963 . CCCAT AGC . . START=233349963;STOP=233349967;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235820;RCV=RCV000224404;SCV=SCV000281673;ALLELE_ID=237476;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.797_801delATGGGinsGCT;HGVS_P=NP_004817.2:p.Asp266Glyfs;MOLECULAR_CONSEQUENCE=NM_004826.3:c.797_801delATGGGinsGCT:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_08..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08 2 233350647 . G GT . . START=233350648;STOP=233350648;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235821;RCV=RCV000224209;SCV=SCV000281675;ALLELE_ID=48087;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.716dupA;HGVS_P=NP_004817.2:p.Tyr239Terfs;MOLECULAR_CONSEQUENCE=NM_004826.3:c.716dupA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08 -2 233350774 . C T . . START=233350774;STOP=233350774;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235817;RCV=RCV000224367;SCV=SCV000281670;ALLELE_ID=48092;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.590G>A;HGVS_P=NP_004817.2:p.Gly197Asp;MOLECULAR_CONSEQUENCE=NM_004826.3:c.590G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08 -2 233351008 . CTGGCGTCCAGGT C . . START=233351009;STOP=233351020;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235821;RCV=RCV000224209;SCV=SCV000281675;ALLELE_ID=48088;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.344_355delACCTGGACGCCA;HGVS_P=NP_004817.2:p.Asn115_Ala118del;MOLECULAR_CONSEQUENCE=NM_004826.3:c.344_355delACCTGGACGCCA:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08 +2 233350774 . C T . . START=233350774;STOP=233350774;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235817;RCV=RCV000224367;SCV=SCV000281670;ALLELE_ID=48092;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.590G>A;HGVS_P=NP_004817.2:p.Gly197Asp;MOLECULAR_CONSEQUENCE=NM_004826.3:c.590G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08 +2 233351008 . CTGGCGTCCAGGT C . . START=233351009;STOP=233351020;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=235821;RCV=RCV000224209;SCV=SCV000281675;ALLELE_ID=48088;SYMBOL=ECEL1;HGVS_C=NM_004826.3:c.344_355delACCTGGACGCCA;HGVS_P=NP_004817.2:p.Asn115_Ala118del;MOLECULAR_CONSEQUENCE=NM_004826.3:c.344_355delACCTGGACGCCA:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Arthrogryposis..distal..type_5d;ALL_PMIDS=23261301;ORIGIN=inherited;XREFS=MedGen:C3554415|OMIM:615065|Orphanet:329457;DATES_ORDERED=2013-01-08 2 241808719 . T TTCCTGGTTG . . START=241808720;STOP=241808728;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=204181;RCV=RCV000186388;SCV=SCV000239738;ALLELE_ID=200465;SYMBOL=AGXT;HGVS_C=NM_000030.2:c.299_307dupTCCTGGTTG;HGVS_P=NP_000021.1:p.Val102_Gly103insValLeuVal;MOLECULAR_CONSEQUENCE=NM_000030.2:c.299_307dupTCCTGGTTG:inframe_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_27..2014;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;SUBMITTERS_ORDERED=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_I|Primary_hyperoxaluria..type_I;ALL_PMIDS=17460142|20301460|22547750;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1283|Genetic_Alliance:Primary+hyperoxaluria+type+1/5947|Genetic_Testing_Registry_(GTR):GTR000118454|Genetic_Testing_Registry_(GTR):GTR000507681|Genetic_Testing_Registry_(GTR):GTR000514623|Genetic_Testing_Registry_(GTR):GTR000515735|Genetic_Testing_Registry_(GTR):GTR000515765|Genetic_Testing_Registry_(GTR):GTR000521390|Genetic_Testing_Registry_(GTR):GTR000528276|MedGen:C0268164|OMIM:259900|Office_of_Rare_Diseases:2835|Orphanet:416|Orphanet:93598|SNOMED_CT:65520001;DATES_ORDERED=2014-11-27 2 241808729 . G A . . START=241808729;STOP=241808729;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=204181;RCV=RCV000186388;SCV=SCV000239738;ALLELE_ID=200466;SYMBOL=AGXT;HGVS_C=NM_000030.2:c.308G>A;HGVS_P=NP_000021.1:p.Gly103Glu;MOLECULAR_CONSEQUENCE=NM_000030.2:c.308G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_27..2014;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;SUBMITTERS_ORDERED=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_I|Primary_hyperoxaluria..type_I;ALL_PMIDS=17460142|20301460|22547750;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1283|Genetic_Alliance:Primary+hyperoxaluria+type+1/5947|Genetic_Testing_Registry_(GTR):GTR000118454|Genetic_Testing_Registry_(GTR):GTR000507681|Genetic_Testing_Registry_(GTR):GTR000514623|Genetic_Testing_Registry_(GTR):GTR000515735|Genetic_Testing_Registry_(GTR):GTR000515765|Genetic_Testing_Registry_(GTR):GTR000521390|Genetic_Testing_Registry_(GTR):GTR000528276|MedGen:C0268164|OMIM:259900|Office_of_Rare_Diseases:2835|Orphanet:416|Orphanet:93598|SNOMED_CT:65520001;DATES_ORDERED=2014-11-27 2 241815403 . G GA . . START=241815404;STOP=241815405;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=204202;RCV=RCV000186409;SCV=SCV000239759;ALLELE_ID=200559;SYMBOL=AGXT;HGVS_C=NM_000030.2:c.829_830insA;HGVS_P=NP_000021.1:p.Ala277Aspfs;MOLECULAR_CONSEQUENCE=NM_000030.2:c.829_830insA:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_27..2014;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;SUBMITTERS_ORDERED=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_I|Primary_hyperoxaluria..type_I;ALL_PMIDS=20301460|22547750;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1283|Genetic_Alliance:Primary+hyperoxaluria+type+1/5947|Genetic_Testing_Registry_(GTR):GTR000118454|Genetic_Testing_Registry_(GTR):GTR000507681|Genetic_Testing_Registry_(GTR):GTR000514623|Genetic_Testing_Registry_(GTR):GTR000515735|Genetic_Testing_Registry_(GTR):GTR000515765|Genetic_Testing_Registry_(GTR):GTR000521390|Genetic_Testing_Registry_(GTR):GTR000528276|MedGen:C0268164|OMIM:259900|Office_of_Rare_Diseases:2835|Orphanet:416|Orphanet:93598|SNOMED_CT:65520001;DATES_ORDERED=2014-11-27 2 241815405 . C A . . START=241815405;STOP=241815405;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=204202;RCV=RCV000186409;SCV=SCV000239759;ALLELE_ID=200560;SYMBOL=AGXT;HGVS_C=NM_000030.2:c.830C>A;HGVS_P=NP_000021.1:p.Ala277Asp;MOLECULAR_CONSEQUENCE=NM_000030.2:c.830C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_27..2014;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;SUBMITTERS_ORDERED=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_I|Primary_hyperoxaluria..type_I;ALL_PMIDS=20301460|22547750;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1283|Genetic_Alliance:Primary+hyperoxaluria+type+1/5947|Genetic_Testing_Registry_(GTR):GTR000118454|Genetic_Testing_Registry_(GTR):GTR000507681|Genetic_Testing_Registry_(GTR):GTR000514623|Genetic_Testing_Registry_(GTR):GTR000515735|Genetic_Testing_Registry_(GTR):GTR000515765|Genetic_Testing_Registry_(GTR):GTR000521390|Genetic_Testing_Registry_(GTR):GTR000528276|MedGen:C0268164|OMIM:259900|Office_of_Rare_Diseases:2835|Orphanet:416|Orphanet:93598|SNOMED_CT:65520001;DATES_ORDERED=2014-11-27 3 15676984 . GCGGCTG TCC . . START=15676984;STOP=15676990;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38562;RCV=RCV000021886;SCV=SCV000042553;ALLELE_ID=16934;SYMBOL=BTD;HGVS_C=NM_000060.4:c.98_104delGCGGCTGinsTCC;HGVS_P=NP_000051.1:p.Cys33Phefs;MOLECULAR_CONSEQUENCE=NM_000060.4:c.98_104delGCGGCTGinsTCC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_19..2017;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=14707518|15776412|20301497|22378278|22475884|9396567;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 -3 15677019 . G A . . START=15677019;STOP=15677019;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=24975|38563;RCV=RCV000021890|RCV000021889;SCV=SCV000042558|SCV000042557;ALLELE_ID=36313;SYMBOL=BTD;HGVS_C=NM_000060.4:c.133G>A;HGVS_P=NP_000051.1:p.Gly45Arg;MOLECULAR_CONSEQUENCE=NM_000060.4:c.133G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_08..2016;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency;ALL_PMIDS=10400129|15060693|15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 +3 15677019 . G A . . START=15677019;STOP=15677019;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=24975|38563;RCV=RCV000021890|RCV000021889;SCV=SCV000042558|SCV000042557;ALLELE_ID=36313;SYMBOL=BTD;HGVS_C=NM_000060.4:c.133G>A;HGVS_P=NP_000051.1:p.Gly45Arg;MOLECULAR_CONSEQUENCE=NM_000060.4:c.133G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_03..2017;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency;ALL_PMIDS=10400129|15060693|15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 3 15677045 . C A . . START=15677045;STOP=15677045;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=24977;RCV=RCV000021892;SCV=SCV000042560;ALLELE_ID=36316;SYMBOL=BTD;HGVS_C=NM_000060.4:c.159C>A;HGVS_P=NP_000051.1:p.His53Gln;MOLECULAR_CONSEQUENCE=NM_000060.4:c.159C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 3 15677046 . G T . . START=15677046;STOP=15677046;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=24977;RCV=RCV000021892;SCV=SCV000042560;ALLELE_ID=36317;SYMBOL=BTD;HGVS_C=NM_000060.4:c.160G>T;HGVS_P=NP_000051.1:p.Glu54Ter;MOLECULAR_CONSEQUENCE=NM_000060.4:c.160G>T:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 -3 15677098 . T C . . START=15677098;STOP=15677098;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38562|38564;RCV=RCV000021886|RCV000021901;SCV=SCV000042553|SCV000042569;ALLELE_ID=47043;SYMBOL=BTD;HGVS_C=NM_000060.4:c.212T>C;HGVS_P=NP_000051.1:p.Leu71Pro;MOLECULAR_CONSEQUENCE=NM_000060.4:c.212T>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_09..2016;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency;ALL_PMIDS=14707518|15776412|20301497|22378278|22475884|9396567|15060693;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 +3 15677098 . T C . . START=15677098;STOP=15677098;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38562|38564;RCV=RCV000021886|RCV000021901;SCV=SCV000042553|SCV000042569;ALLELE_ID=47043;SYMBOL=BTD;HGVS_C=NM_000060.4:c.212T>C;HGVS_P=NP_000051.1:p.Leu71Pro;MOLECULAR_CONSEQUENCE=NM_000060.4:c.212T>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_09..2016;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency;ALL_PMIDS=14707518|15776412|20301497|22378278|22475884|9396567|15060693;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 3 15677121 . C T . . START=15677121;STOP=15677121;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38565|38566;RCV=RCV000021903|RCV000032009;SCV=SCV000042572|SCV000042573;ALLELE_ID=16944;SYMBOL=BTD;HGVS_C=NM_000060.4:c.235C>T;HGVS_P=NP_000051.1:p.Arg79Cys;MOLECULAR_CONSEQUENCE=NM_000060.4:c.235C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_28..2016;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency;ALL_PMIDS=10801053|15776412|16435182|20301497|22378278|22475884|10400129|9396567;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 -3 15677122 . G A . . START=15677122;STOP=15677122;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38564;RCV=RCV000021901;SCV=SCV000042569;ALLELE_ID=46851;SYMBOL=BTD;HGVS_C=NM_000060.4:c.236G>A;HGVS_P=NP_000051.1:p.Arg79His;MOLECULAR_CONSEQUENCE=NM_000060.4:c.236G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=14707518|15060693|15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 +3 15677122 . G A . . START=15677122;STOP=15677122;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38564;RCV=RCV000021901;SCV=SCV000042569;ALLELE_ID=46851;SYMBOL=BTD;HGVS_C=NM_000060.4:c.236G>A;HGVS_P=NP_000051.1:p.Arg79His;MOLECULAR_CONSEQUENCE=NM_000060.4:c.236G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=14707518|15060693|15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 3 15677169 . C T . . START=15677169;STOP=15677169;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=24994;RCV=RCV000021912;SCV=SCV000042581;ALLELE_ID=36332;SYMBOL=BTD;HGVS_C=NM_000060.4:c.283C>T;HGVS_P=NP_000051.1:p.Gln95Ter;MOLECULAR_CONSEQUENCE=NM_000060.4:c.283C>T:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=10400129|15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 3 15685833 . G A . . START=15685833;STOP=15685833;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38566|38568;RCV=RCV000032009|RCV000021933;SCV=SCV000042573|SCV000042602;ALLELE_ID=46845;SYMBOL=BTD;HGVS_C=NM_000060.4:c.470G>A;HGVS_P=NP_000051.1:p.Arg157His;MOLECULAR_CONSEQUENCE=NM_000060.4:c.470G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_25..2016;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency;ALL_PMIDS=10400129|10801053|15776412|16435182|20301497|22378278|22475884|9396567;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 -3 15685874 . G A . . START=15685874;STOP=15685874;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=25016;RCV=RCV000021936;SCV=SCV000022135|SCV000042605;ALLELE_ID=36353;SYMBOL=BTD;HGVS_C=NM_000060.4:c.511G>A;HGVS_P=NP_000051.1:p.Ala171Thr;MOLECULAR_CONSEQUENCE=NM_000060.4:c.511G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided;LAST_EVALUATED=May_18..2017;ALL_SUBMITTERS=OMIM|ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=OMIM|ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|BIOTINIDASE_DEFICIENCY|Biotinidase_deficiency;ALL_PMIDS=10400129|15776412|20301497|21228398|22378278|22475884|7509806|9375914|9654207;ORIGIN=germline|not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2011-01-12|2012-12-04 -3 15686004 . A G . . START=15686004;STOP=15686004;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=25030;RCV=RCV000021952;SCV=SCV000042621;ALLELE_ID=36367;SYMBOL=BTD;HGVS_C=NM_000060.4:c.641A>G;HGVS_P=NP_000051.1:p.Asn214Ser;MOLECULAR_CONSEQUENCE=NM_000060.4:c.641A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_18..2016;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=10400129|15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 -3 15686157 . A T . . START=15686157;STOP=15686157;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=25042;RCV=RCV000021964;SCV=SCV000042634;ALLELE_ID=36378;SYMBOL=BTD;HGVS_C=NM_000060.4:c.794A>T;HGVS_P=NP_000051.1:p.His265Leu;MOLECULAR_CONSEQUENCE=NM_000060.4:c.794A>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=12359137|20083419|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 +3 15685874 . G A . . START=15685874;STOP=15685874;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=25016;RCV=RCV000021936;SCV=SCV000022135|SCV000042605;ALLELE_ID=36353;SYMBOL=BTD;HGVS_C=NM_000060.4:c.511G>A;HGVS_P=NP_000051.1:p.Ala171Thr;MOLECULAR_CONSEQUENCE=NM_000060.4:c.511G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided;LAST_EVALUATED=May_18..2017;ALL_SUBMITTERS=OMIM|ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=OMIM|ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|BIOTINIDASE_DEFICIENCY|Biotinidase_deficiency;ALL_PMIDS=10400129|15776412|20301497|21228398|22378278|22475884|7509806|9375914|9654207;ORIGIN=germline|not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2011-01-12|2012-12-04 +3 15686004 . A G . . START=15686004;STOP=15686004;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=25030;RCV=RCV000021952;SCV=SCV000042621;ALLELE_ID=36367;SYMBOL=BTD;HGVS_C=NM_000060.4:c.641A>G;HGVS_P=NP_000051.1:p.Asn214Ser;MOLECULAR_CONSEQUENCE=NM_000060.4:c.641A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..2017;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=10400129|15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 +3 15686157 . A T . . START=15686157;STOP=15686157;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=25042;RCV=RCV000021964;SCV=SCV000042634;ALLELE_ID=36378;SYMBOL=BTD;HGVS_C=NM_000060.4:c.794A>T;HGVS_P=NP_000051.1:p.His265Leu;MOLECULAR_CONSEQUENCE=NM_000060.4:c.794A>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=12359137|20083419|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 3 15686228 . G C . . START=15686228;STOP=15686228;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38563;RCV=RCV000021889;SCV=SCV000042557;ALLELE_ID=46848;SYMBOL=BTD;HGVS_C=NM_000060.4:c.865G>C;HGVS_P=NP_000051.1:p.Ala289Pro;MOLECULAR_CONSEQUENCE=NM_000060.4:c.865G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=10400129|15060693|15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 -3 15686296 . T G . . START=15686296;STOP=15686296;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=25042;RCV=RCV000021964;SCV=SCV000042634;ALLELE_ID=36379;SYMBOL=BTD;HGVS_C=NM_000060.4:c.933T>G;HGVS_P=NP_000051.1:p.Ser311Arg;MOLECULAR_CONSEQUENCE=NM_000060.4:c.933T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=12359137|20083419|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 -3 15686534 . C T . . START=15686534;STOP=15686534;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38571;RCV=RCV000021985;SCV=SCV000042655;ALLELE_ID=46849;SYMBOL=BTD;HGVS_C=NM_001281724.2:c.1177C>T;HGVS_P=NP_001268653.1:p.Pro393Ser;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1171C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_22..2017;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=11668630|15776412|20301497|22378278|22475884|9396567;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 -3 15686570 . T G . . START=15686570;STOP=15686570;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=1904;RCV=RCV000001981;SCV=SCV000022139|SCV000042659;ALLELE_ID=16943;SYMBOL=BTD;HGVS_C=NM_000060.4:c.1207T>G;HGVS_P=NP_000051.1:p.Phe403Val;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1207T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided;LAST_EVALUATED=Apr_29..2016;ALL_SUBMITTERS=OMIM|ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=OMIM|ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|BIOTINIDASE_DEFICIENCY|Biotinidase_deficiency;ALL_PMIDS=10400129|15776412|20301497|22378278|22475884;ORIGIN=germline|not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=1999-07-01|2012-12-04 +3 15686296 . T G . . START=15686296;STOP=15686296;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=25042;RCV=RCV000021964;SCV=SCV000042634;ALLELE_ID=36379;SYMBOL=BTD;HGVS_C=NM_000060.4:c.933T>G;HGVS_P=NP_000051.1:p.Ser311Arg;MOLECULAR_CONSEQUENCE=NM_000060.4:c.933T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=12359137|20083419|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 +3 15686534 . C T . . START=15686534;STOP=15686534;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38571;RCV=RCV000021985;SCV=SCV000042655;ALLELE_ID=46849;SYMBOL=BTD;HGVS_C=NM_001281724.2:c.1177C>T;HGVS_P=NP_001268653.1:p.Pro393Ser;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1171C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_18..2017;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=11668630|15776412|20301497|22378278|22475884|9396567;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 +3 15686570 . T G . . START=15686570;STOP=15686570;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=1904;RCV=RCV000001981;SCV=SCV000022139|SCV000042659;ALLELE_ID=16943;SYMBOL=BTD;HGVS_C=NM_000060.4:c.1207T>G;HGVS_P=NP_000051.1:p.Phe403Val;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1207T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided;LAST_EVALUATED=Apr_29..2016;ALL_SUBMITTERS=OMIM|ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=OMIM|ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|BIOTINIDASE_DEFICIENCY|Biotinidase_deficiency;ALL_PMIDS=10400129|15776412|20301497|22378278|22475884;ORIGIN=germline|not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=1999-07-01|2012-12-04 3 15686634 . G C . . START=15686634;STOP=15686634;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=24975;RCV=RCV000021890;SCV=SCV000042558;ALLELE_ID=36314;SYMBOL=BTD;HGVS_C=NM_000060.4:c.1271G>C;HGVS_P=NP_000051.1:p.Cys424Ser;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1271G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=10400129|15060693|15776412|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 -3 15686693 . G C . . START=15686693;STOP=15686693;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=1904|24994|25016|25030|38568;RCV=RCV000001981|RCV000021912|RCV000021936|RCV000021952|RCV000021933;SCV=SCV000022139|SCV000042659|SCV000042581|SCV000022135|SCV000042605|SCV000042621|SCV000042602;ALLELE_ID=16939;SYMBOL=BTD;HGVS_C=NM_001281724.2:c.1336G>C;HGVS_P=NP_001268653.1:p.Asp446His;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1330G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=7;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_13..2017;ALL_SUBMITTERS=OMIM|ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=OMIM|ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|BIOTINIDASE_DEFICIENCY;ALL_PMIDS=10400129|15776412|20301497|22378278|22475884|21228398|7509806|9375914|9654207|16435182|9396567;ORIGIN=germline|not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=1999-07-01|2012-12-04|2011-01-12 -3 15686697 . G T . . START=15686697;STOP=15686697;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38571;RCV=RCV000021985;SCV=SCV000042655;ALLELE_ID=36396;SYMBOL=BTD;HGVS_C=NM_000060.4:c.1334G>T;HGVS_P=NP_000051.1:p.Gly445Val;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1334G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=11668630|15776412|20301497|22378278|22475884|9396567;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 +3 15686693 . G C . . START=15686693;STOP=15686693;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=1904|24994|25016|25030|38568;RCV=RCV000001981|RCV000021912|RCV000021936|RCV000021952|RCV000021933;SCV=SCV000022139|SCV000042659|SCV000042581|SCV000022135|SCV000042605|SCV000042621|SCV000042602;ALLELE_ID=16939;SYMBOL=BTD;HGVS_C=NM_001281724.2:c.1336G>C;HGVS_P=NP_001268653.1:p.Asp446His;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1330G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=7;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_18..2017;ALL_SUBMITTERS=OMIM|ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=OMIM|ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|BIOTINIDASE_DEFICIENCY;ALL_PMIDS=10400129|15776412|20301497|22378278|22475884|21228398|7509806|9375914|9654207|16435182|9396567;ORIGIN=germline|not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=1999-07-01|2012-12-04|2011-01-12 +3 15686697 . G T . . START=15686697;STOP=15686697;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38571;RCV=RCV000021985;SCV=SCV000042655;ALLELE_ID=36396;SYMBOL=BTD;HGVS_C=NM_000060.4:c.1334G>T;HGVS_P=NP_000051.1:p.Gly445Val;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1334G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_10..2017;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=11668630|15776412|20301497|22378278|22475884|9396567;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 3 15686724 . A C . . START=15686724;STOP=15686724;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=38565;RCV=RCV000021903;SCV=SCV000042572;ALLELE_ID=36326;SYMBOL=BTD;HGVS_C=NM_000060.4:c.1361A>C;HGVS_P=NP_000051.1:p.Tyr454Ser;MOLECULAR_CONSEQUENCE=NM_000060.4:c.1361A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=ARUP_Institute..ARUP_Laboratories;SUBMITTERS_ORDERED=ARUP_Institute..ARUP_Laboratories;ALL_TRAITS=Biotinidase_deficiency|Biotinidase_deficiency;ALL_PMIDS=10801053|15776412|16435182|20301497|22378278|22475884;ORIGIN=not_provided;XREFS=GeneReviews:NBK1322|Genetic_Alliance:Biotinidase+Deficiency/846|MedGen:C0220754|OMIM:253260|OMIM:609019|Office_of_Rare_Diseases:894|Orphanet:79241|SNOMED_CT:8808004;DATES_ORDERED=2012-12-04 -3 33060002 . G A . . START=33060002;STOP=33060002;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=208495;RCV=RCV000190508;SCV=SCV000245394;ALLELE_ID=205010;SYMBOL=GLB1;HGVS_C=NM_000404.3:c.1285C>T;HGVS_P=NP_000395.2:p.Pro429Ser;MOLECULAR_CONSEQUENCE=NM_000404.3:c.1285C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_13..2016;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Mucopolysaccharidosis..MPS-IV-B;ALL_PMIDS=24156116;ORIGIN=germline;XREFS=GeneReviews:NBK164500|Genetic_Alliance:Morquio+syndrome+B/4877|MedGen:C0086652|OMIM:253010|Orphanet:582|SNOMED_CT:238044004;DATES_ORDERED=2016-05-13 +3 33060002 . G A . . START=33060002;STOP=33060002;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=208495;RCV=RCV000190508;SCV=SCV000245394;ALLELE_ID=205010;SYMBOL=GLB1;HGVS_C=NM_000404.3:c.1285C>T;HGVS_P=NP_000395.2:p.Pro429Ser;MOLECULAR_CONSEQUENCE=NM_000404.3:c.1285C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_18..2017;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Mucopolysaccharidosis..MPS-IV-B;ALL_PMIDS=24156116;ORIGIN=germline;XREFS=GeneReviews:NBK164500|Genetic_Alliance:Morquio+syndrome+B/4877|MedGen:C0086652|OMIM:253010|Orphanet:582|SNOMED_CT:238044004;DATES_ORDERED=2016-05-13 3 33065789 . G T . . START=33065789;STOP=33065789;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=208495;RCV=RCV000190508;SCV=SCV000245394;ALLELE_ID=205011;SYMBOL=GLB1;HGVS_C=NM_000404.3:c.1097C>A;HGVS_P=NP_000395.2:p.Pro366His;MOLECULAR_CONSEQUENCE=NM_000404.3:c.1097C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_13..2016;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Mucopolysaccharidosis..MPS-IV-B;ALL_PMIDS=24156116;ORIGIN=germline;XREFS=GeneReviews:NBK164500|Genetic_Alliance:Morquio+syndrome+B/4877|MedGen:C0086652|OMIM:253010|Orphanet:582|SNOMED_CT:238044004;DATES_ORDERED=2016-05-13 -3 38593004 . G A . . START=38593004;STOP=38593004;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440848;RCV=RCV000009965;SCV=SCV000030186;ALLELE_ID=38446;SYMBOL=SCN5A;HGVS_C=NM_198056.2:c.4859C>T;HGVS_P=NP_932173.1:p.Thr1620Met;MOLECULAR_CONSEQUENCE=NM_000335.4:c.4856C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_10..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Brugada_syndrome_1|BRUGADA_SYNDROME_1;ALL_PMIDS=10618304|19251209|20129283|20301690|21321465|21810866|23788249|25356965|27854360|9521325;ORIGIN=germline;XREFS=GeneReviews:NBK1517|MedGen:CN029323|OMIM:601144|Orphanet:130;DATES_ORDERED=2000-01-04 +3 38593004 . G A . . START=38593004;STOP=38593004;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440848;RCV=RCV000009965;SCV=SCV000030186;ALLELE_ID=38446;SYMBOL=SCN5A;HGVS_C=NM_198056.2:c.4859C>T;HGVS_P=NP_932173.1:p.Thr1620Met;MOLECULAR_CONSEQUENCE=NM_000335.4:c.4856C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_28..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Brugada_syndrome_1|BRUGADA_SYNDROME_1;ALL_PMIDS=10618304|19251209|20129283|20301690|21321465|21810866|23788249|25356965|27854360|9521325;ORIGIN=germline;XREFS=GeneReviews:NBK1517|MedGen:CN029323|OMIM:601144|Orphanet:130;DATES_ORDERED=2000-01-04 +3 38603947 . G A . . START=38603947;STOP=38603947;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440850;RCV=RCV000010010;SCV=SCV000030231;ALLELE_ID=38448;SYMBOL=SCN5A;HGVS_C=NM_198056.2:c.3922C>T;HGVS_P=NP_932173.1:p.Leu1308Phe;MOLECULAR_CONSEQUENCE=NM_000335.4:c.3919C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_31..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Brugada_syndrome_1|BRUGADA_SYNDROME_1;ALL_PMIDS=10532948|15851227|18599870|19841300|20129283|20301690|21810866|23788249|25356965|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1517|MedGen:CN029323|OMIM:601144|Orphanet:130;DATES_ORDERED=2008-08-15 3 38608046 . G A . . START=38608046;STOP=38608046;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440848;RCV=RCV000009965;SCV=SCV000030186;ALLELE_ID=24410;SYMBOL=SCN5A;HGVS_C=NM_198056.2:c.3694C>T;HGVS_P=NP_932173.1:p.Arg1232Trp;MOLECULAR_CONSEQUENCE=NM_000335.4:c.3691C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_03..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Brugada_syndrome_1|BRUGADA_SYNDROME_1;ALL_PMIDS=10618304|19251209|20129283|20301690|21321465|21810866|23788249|25356965|27854360|9521325;ORIGIN=germline;XREFS=GeneReviews:NBK1517|MedGen:CN029323|OMIM:601144|Orphanet:130;DATES_ORDERED=2000-01-04 -3 38645420 . T C . . START=38645420;STOP=38645420;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440849;RCV=RCV000010000;SCV=SCV000030221;ALLELE_ID=38447;SYMBOL=SCN5A;HGVS_C=NM_198056.2:c.1673A>G;HGVS_P=NP_932173.1:p.His558Arg;MOLECULAR_CONSEQUENCE=NM_000335.4:c.1673A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Progressive_familial_heart_block_type_1A|PROGRESSIVE_FAMILIAL_HEART_BLOCK..TYPE_IA;ALL_PMIDS=10807545|11463728|11997281|12569159|12639704|14760|18378609|23788249|23994779|27854360;ORIGIN=germline;XREFS=Genetic_Alliance:Progressive+familial+heart+block+type+1A/5978|Genetics_Home_Reference:progressive-familial-heart-block|MedGen:C1879286|OMIM:113900|OMIM:600163.0009|OMIM:600163.0017|OMIM:600163.0018|OMIM:600163.0031|Office_of_Rare_Diseases:1093|Orphanet:871;DATES_ORDERED=2008-04-15 +3 38645420 . T C . . START=38645420;STOP=38645420;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440849;RCV=RCV000010000;SCV=SCV000030221;ALLELE_ID=38447;SYMBOL=SCN5A;HGVS_C=NM_198056.2:c.1673A>G;HGVS_P=NP_932173.1:p.His558Arg;MOLECULAR_CONSEQUENCE=NM_000335.4:c.1673A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Progressive_familial_heart_block_type_1A|PROGRESSIVE_FAMILIAL_HEART_BLOCK..TYPE_IA;ALL_PMIDS=10807545|11463728|11997281|12569159|12639704|14760|18378609|23788249|23994779|27854360;ORIGIN=germline;XREFS=Genetic_Alliance:Progressive+familial+heart+block+type+1A/5978|Genetics_Home_Reference:progressive-familial-heart-block|MedGen:C1879286|OMIM:113900|OMIM:600163.0009|OMIM:600163.0017|OMIM:600163.0018|OMIM:600163.0031|Office_of_Rare_Diseases:1093|Orphanet:871;DATES_ORDERED=2008-04-15 3 38645558 . G A . . START=38645558;STOP=38645558;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440849;RCV=RCV000010000;SCV=SCV000030221;ALLELE_ID=24437;SYMBOL=SCN5A;HGVS_C=NM_198056.2:c.1535C>T;HGVS_P=NP_932173.1:p.Thr512Ile;MOLECULAR_CONSEQUENCE=NM_198056.2:c.1535C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_27..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Progressive_familial_heart_block_type_1A|PROGRESSIVE_FAMILIAL_HEART_BLOCK..TYPE_IA;ALL_PMIDS=10807545|11463728|11997281|12569159|12639704|14760|18378609|23788249|23994779|27854360;ORIGIN=germline;XREFS=Genetic_Alliance:Progressive+familial+heart+block+type+1A/5978|Genetics_Home_Reference:progressive-familial-heart-block|MedGen:C1879286|OMIM:113900|OMIM:600163.0009|OMIM:600163.0017|OMIM:600163.0018|OMIM:600163.0031|Office_of_Rare_Diseases:1093|Orphanet:871;DATES_ORDERED=2008-04-15 +3 38655243 . C T . . START=38655243;STOP=38655243;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440850;RCV=RCV000010010;SCV=SCV000030231;ALLELE_ID=24446;SYMBOL=SCN5A;HGVS_C=NM_001099404.1:c.703+223G>A;HGVS_P=NP_932173.1:p.Val232Ile;MOLECULAR_CONSEQUENCE=NM_000335.4:c.694G>A:missense_variant|NM_001099404.1:c.703+223G>A:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_21..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Brugada_syndrome_1|BRUGADA_SYNDROME_1;ALL_PMIDS=10532948|15851227|18599870|19841300|20129283|20301690|21810866|23788249|25356965|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1517|MedGen:CN029323|OMIM:601144|Orphanet:130;DATES_ORDERED=2008-08-15 3 39307162 . G A . . START=39307162;STOP=39307162;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=8152;RCV=RCV000008629|RCV000008630|RCV000023109;SCV=SCV000028837|SCV000028838|SCV000044400;ALLELE_ID=36774;SYMBOL=CX3CR1;HGVS_C=NM_001171174.1:c.935C>T;HGVS_P=NP_001164645.1:p.Thr312Met;MOLECULAR_CONSEQUENCE=NM_001171174.1:c.935C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|protective|risk_factor;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_18..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Human_immunodeficiency_virus_type_1..rapid_progression_to_AIDS|HUMAN_IMMUNODEFICIENCY_VIRUS_TYPE_1..RAPID_PROGRESSION_TO_AIDS|Coronary_artery_disease..resistance_to|MACULAR_DEGENERATION..AGE-RELATED..12..SUSCEPTIBILITY_TO;ALL_PMIDS=10731151|11264153|12697743|15208270|17909628|23716478;ORIGIN=germline;XREFS=MedGen:C4016733|MedGen:C1832288|OMIM:601470.0001;DATES_ORDERED=2014-09-05|2015-05-18|2013-12-01 3 39307256 . C T . . START=39307256;STOP=39307256;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=8152;RCV=RCV000008629|RCV000008630|RCV000023109;SCV=SCV000028837|SCV000028838|SCV000044400;ALLELE_ID=23191;SYMBOL=CX3CR1;HGVS_C=NM_001171174.1:c.841G>A;HGVS_P=NP_001164645.1:p.Val281Ile;MOLECULAR_CONSEQUENCE=NM_001171174.1:c.841G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|protective|risk_factor;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_18..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Human_immunodeficiency_virus_type_1..rapid_progression_to_AIDS|HUMAN_IMMUNODEFICIENCY_VIRUS_TYPE_1..RAPID_PROGRESSION_TO_AIDS|Coronary_artery_disease..resistance_to|MACULAR_DEGENERATION..AGE-RELATED..12..SUSCEPTIBILITY_TO;ALL_PMIDS=10731151|11264153|12697743|15208270|17909628|23716478;ORIGIN=germline;XREFS=MedGen:C4016733|MedGen:C1832288|OMIM:601470.0001;DATES_ORDERED=2014-09-05|2015-05-18|2013-12-01 3 42733468 . T C . . START=42733468;STOP=42733468;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=228777;RCV=RCV000213109;SCV=SCV000271889;ALLELE_ID=229063;SYMBOL=KLHL40;HGVS_C=NM_152393.3:c.1849T>C;HGVS_P=NP_689606.2:p.Cys617Arg;MOLECULAR_CONSEQUENCE=NM_152393.3:c.1849T>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_05..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-12-18 3 42733469 . G A . . START=42733469;STOP=42733469;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=228777;RCV=RCV000213109;SCV=SCV000271889;ALLELE_ID=229064;SYMBOL=KLHL40;HGVS_C=NM_152393.3:c.1850G>A;HGVS_P=NP_689606.2:p.Cys617Tyr;MOLECULAR_CONSEQUENCE=NM_152393.3:c.1850G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_18..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-12-18 3 49160612 . G A . . START=49160612;STOP=49160612;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14535;RCV=RCV000015634;SCV=SCV000035899;ALLELE_ID=38466;SYMBOL=LAMB2;HGVS_C=NM_002292.3:c.4177C>T;HGVS_P=NP_002283.3:p.Leu1393Phe;MOLECULAR_CONSEQUENCE=NM_002292.3:c.4177C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_01..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Nephrotic_syndrome..type_5..with_or_without_ocular_abnormalities|NEPHROTIC_SYNDROME..TYPE_5..WITH_OCULAR_ABNORMALITIES;ALL_PMIDS=16912710;ORIGIN=germline;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+type+5%2C+with+or+without+ocular+abnormalities/8989|MedGen:C3280113|OMIM:150325.0006|OMIM:150325.0007|OMIM:150325.0008|OMIM:150325.0009|OMIM:150325.0010|OMIM:150325.0011|OMIM:614199|Orphanet:306507;DATES_ORDERED=2006-09-01 -3 49160649 . G T . . START=49160649;STOP=49160649;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14535;RCV=RCV000015634;SCV=SCV000035899;ALLELE_ID=29574;SYMBOL=LAMB2;HGVS_C=NM_002292.3:c.4140C>A;HGVS_P=NP_002283.3:p.Asn1380Lys;MOLECULAR_CONSEQUENCE=NM_002292.3:c.4140C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_01..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Nephrotic_syndrome..type_5..with_or_without_ocular_abnormalities|NEPHROTIC_SYNDROME..TYPE_5..WITH_OCULAR_ABNORMALITIES;ALL_PMIDS=16912710;ORIGIN=germline;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+type+5%2C+with+or+without+ocular+abnormalities/8989|MedGen:C3280113|OMIM:150325.0006|OMIM:150325.0007|OMIM:150325.0008|OMIM:150325.0009|OMIM:150325.0010|OMIM:150325.0011|OMIM:614199|Orphanet:306507;DATES_ORDERED=2006-09-01 -3 64142981 . C T . . START=64142981;STOP=64142981;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=30731;RCV=RCV000023709;SCV=SCV000045000;ALLELE_ID=39689;SYMBOL=PRICKLE2;HGVS_C=NM_198859.3:c.457G>A;HGVS_P=NP_942559.1:p.Val153Ile;MOLECULAR_CONSEQUENCE=NM_198859.3:c.457G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_10..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Epilepsy..progressive_myoclonic_5|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=21276947|26942291|26942292|632821;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+progressive+myoclonic+5/8335|MedGen:CN226157|OMIM:613832|Orphanet:402082;DATES_ORDERED=2011-02-11 +3 49160649 . G T . . START=49160649;STOP=49160649;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14535;RCV=RCV000015634;SCV=SCV000035899;ALLELE_ID=29574;SYMBOL=LAMB2;HGVS_C=NM_002292.3:c.4140C>A;HGVS_P=NP_002283.3:p.Asn1380Lys;MOLECULAR_CONSEQUENCE=NM_002292.3:c.4140C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_25..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Nephrotic_syndrome..type_5..with_or_without_ocular_abnormalities|NEPHROTIC_SYNDROME..TYPE_5..WITH_OCULAR_ABNORMALITIES;ALL_PMIDS=16912710;ORIGIN=germline;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+type+5%2C+with+or+without+ocular+abnormalities/8989|MedGen:C3280113|OMIM:150325.0006|OMIM:150325.0007|OMIM:150325.0008|OMIM:150325.0009|OMIM:150325.0010|OMIM:150325.0011|OMIM:614199|Orphanet:306507;DATES_ORDERED=2006-09-01 +3 52820981 . A T . . START=52820981;STOP=52820981;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=14798;RCV=RCV000015921;SCV=SCV000036188;ALLELE_ID=29837;SYMBOL=ITIH1;HGVS_C=NM_002215.3:c.1754A>T;HGVS_P=NP_002206.2:p.Glu585Val;MOLECULAR_CONSEQUENCE=NM_002215.3:c.1754A>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_01..1995;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=INTER-ALPHA-TRYPSIN_INHIBITOR..HEAVY_CHAIN_1_POLYMORPHISM|INTER-ALPHA-TRYPSIN_INHIBITOR..HEAVY_CHAIN_1_POLYMORPHISM;ALL_PMIDS=7535743;ORIGIN=germline;XREFS=OMIM:147270.0001|OMIM:147270.0002|OMIM:147270.0003;DATES_ORDERED=1995-04-01 +3 52821011 . A G . . START=52821011;STOP=52821011;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=14798|14799;RCV=RCV000015921|RCV000015922;SCV=SCV000036188|SCV000036189;ALLELE_ID=29838;SYMBOL=ITIH1;HGVS_C=NM_002215.3:c.1784A>G;HGVS_P=NP_002206.2:p.Gln595Arg;MOLECULAR_CONSEQUENCE=NM_002215.3:c.1784A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_01..1995;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=INTER-ALPHA-TRYPSIN_INHIBITOR..HEAVY_CHAIN_1_POLYMORPHISM;ALL_PMIDS=7535743;ORIGIN=germline;XREFS=OMIM:147270.0001|OMIM:147270.0002|OMIM:147270.0003;DATES_ORDERED=1995-04-01 +3 64142981 . C T . . START=64142981;STOP=64142981;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=30731;RCV=RCV000023709;SCV=SCV000045000;ALLELE_ID=39689;SYMBOL=PRICKLE2;HGVS_C=NM_198859.3:c.457G>A;HGVS_P=NP_942559.1:p.Val153Ile;MOLECULAR_CONSEQUENCE=NM_198859.3:c.457G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_21..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Epilepsy..progressive_myoclonic_5|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=21276947|26942291|26942292|632821;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+progressive+myoclonic+5/8335|MedGen:CN226157|OMIM:613832|Orphanet:402082;DATES_ORDERED=2011-02-11 3 64142995 . C T . . START=64142995;STOP=64142995;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=30731;RCV=RCV000023709;SCV=SCV000045000;ALLELE_ID=39688;SYMBOL=PRICKLE2;HGVS_C=NM_198859.3:c.443G>A;HGVS_P=NP_942559.1:p.Arg148His;MOLECULAR_CONSEQUENCE=NM_198859.3:c.443G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_20..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Epilepsy..progressive_myoclonic_5|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=21276947|26942291|26942292|632821;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+progressive+myoclonic+5/8335|MedGen:CN226157|OMIM:613832|Orphanet:402082;DATES_ORDERED=2011-02-11 3 114057857 . C T . . START=114057857;STOP=114057857;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=253111;RCV=RCV000239523;SCV=SCV000297909;ALLELE_ID=247522;SYMBOL=ZBTB20;HGVS_C=NM_001164342.2:c.2221G>A;HGVS_P=NP_001157814.1:p.Gly741Arg;MOLECULAR_CONSEQUENCE=NM_001164342.2:c.2221G>A:missense_variant|NR_121662.1:n.883G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Primrose_syndrome|PRIMROSE_SYNDROME;ALL_PMIDS=27061120;ORIGIN=germline;XREFS=Genetic_Alliance:Primrose+syndrome/5964|MedGen:C0796121|OMIM:259050|Office_of_Rare_Diseases:4488;DATES_ORDERED=2016-08-08 3 114058231 . G A . . START=114058231;STOP=114058231;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=253111;RCV=RCV000239523;SCV=SCV000297909;ALLELE_ID=247523;SYMBOL=ZBTB20;HGVS_C=NM_001164342.2:c.1847C>T;HGVS_P=NP_001157814.1:p.Ser616Phe;MOLECULAR_CONSEQUENCE=NM_001164342.2:c.1847C>T:missense_variant|NR_121662.1:n.509C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Primrose_syndrome|PRIMROSE_SYNDROME;ALL_PMIDS=27061120;ORIGIN=germline;XREFS=Genetic_Alliance:Primrose+syndrome/5964|MedGen:C0796121|OMIM:259050|Office_of_Rare_Diseases:4488;DATES_ORDERED=2016-08-08 3 124454069 . A G . . START=124454069;STOP=124454069;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=11906;RCV=RCV000012681;SCV=SCV000032916;ALLELE_ID=26945;SYMBOL=UMPS;HGVS_C=NM_000373.3:c.286A>G;HGVS_P=NP_000364.1:p.Arg96Gly;MOLECULAR_CONSEQUENCE=NM_000373.3:c.286A>G:missense_variant|NR_033434.1:n.263-2346A>G:intron_variant|NR_033437.1:n.491A>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Orotic_aciduria|OROTIC_ACIDURIA;ALL_PMIDS=9042911;ORIGIN=germline;XREFS=Genetic_Alliance:Orotic+aciduria+hereditary/5431|MedGen:C0268128|OMIM:258900|OMIM:258920|Orphanet:30|SNOMED_CT:47641009|SNOMED_CT:90093009;DATES_ORDERED=1997-03-01 3 124462773 . G C . . START=124462773;STOP=124462773;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=11906;RCV=RCV000012681;SCV=SCV000032916;ALLELE_ID=38455;SYMBOL=UMPS;HGVS_C=NM_000373.3:c.1285G>C;HGVS_P=NP_000364.1:p.Gly429Arg;MOLECULAR_CONSEQUENCE=NM_000373.3:c.1285G>C:missense_variant|NR_033434.1:n.1237G>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Orotic_aciduria|OROTIC_ACIDURIA;ALL_PMIDS=9042911;ORIGIN=germline;XREFS=Genetic_Alliance:Orotic+aciduria+hereditary/5431|MedGen:C0268128|OMIM:258900|OMIM:258920|Orphanet:30|SNOMED_CT:47641009|SNOMED_CT:90093009;DATES_ORDERED=1997-03-01 +3 178936092 . A C . . START=178936092;STOP=178936092;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=222469;RCV=RCV000144511;SCV=SCV000189830;ALLELE_ID=28698;SYMBOL=PIK3CA;HGVS_C=NM_006218.3:c.1634A>C;HGVS_P=NP_006209.2:p.Glu545Ala;MOLECULAR_CONSEQUENCE=NM_006218.3:c.1634A>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_31..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cowden_syndrome_5|COWDEN_SYNDROME_5;ALL_PMIDS=23246288;ORIGIN=germline;XREFS=MedGen:C3554518|OMIM:615108|Orphanet:201;DATES_ORDERED=2013-01-10 +3 178936116 . GT C . . START=178936116;STOP=178936117;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=222469;RCV=RCV000144511;SCV=SCV000189830;ALLELE_ID=166223;SYMBOL=PIK3CA;HGVS_C=NM_006218.3:c.1658_1659delGTinsC;HGVS_P=NP_006209.2:p.Ser553Thrfs;MOLECULAR_CONSEQUENCE=NM_006218.3:c.1658_1659delGTinsC:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_10..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cowden_syndrome_5|COWDEN_SYNDROME_5;ALL_PMIDS=23246288;ORIGIN=germline;XREFS=MedGen:C3554518|OMIM:615108|Orphanet:201;DATES_ORDERED=2013-01-10 3 193355102 . T C . . START=193355102;STOP=193355102;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=5089;RCV=RCV000005394;SCV=SCV000025574;ALLELE_ID=101627;SYMBOL=OPA1;HGVS_C=NM_015560.2:c.870+32T>C;MOLECULAR_CONSEQUENCE=NM_015560.2:c.870+32T>C:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_22..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Glaucoma..normal_tension..susceptibility_to|GLAUCOMA..NORMAL_TENSION..SUSCEPTIBILITY_TO;ALL_PMIDS=11810296|12073024|17188046|19581274;ORIGIN=germline;XREFS=Genetic_Alliance:Glaucoma%2C+normal+tension%2C+susceptibility+to/8467|MedGen:C1847730|OMIM:606657;DATES_ORDERED=2010-02-01 -4 996555 . G C . . START=996555;STOP=996555;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=11911;RCV=RCV000012686;SCV=SCV000032921;ALLELE_ID=26950;SYMBOL=IDUA;HGVS_C=NM_000203.4:c.1225G>C;HGVS_P=NP_000194.2:p.Gly409Arg;MOLECULAR_CONSEQUENCE=NM_000203.4:c.1225G>C:missense_variant|NR_110313.1:n.1313G>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_08..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hurler_syndrome|HURLER_SYNDROME;ALL_PMIDS=20301341|8328452;ORIGIN=germline;XREFS=GeneReviews:NBK1162|Genetic_Alliance:Mucopolysaccharidosis+type+I/4912|MedGen:C0086795|OMIM:607014;DATES_ORDERED=1993-08-01 +4 996555 . G C . . START=996555;STOP=996555;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=11911;RCV=RCV000012686;SCV=SCV000032921;ALLELE_ID=26950;SYMBOL=IDUA;HGVS_C=NM_000203.4:c.1225G>C;HGVS_P=NP_000194.2:p.Gly409Arg;MOLECULAR_CONSEQUENCE=NM_000203.4:c.1225G>C:missense_variant|NR_110313.1:n.1313G>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_08..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hurler_syndrome|HURLER_SYNDROME;ALL_PMIDS=20301341|8328452;ORIGIN=germline;XREFS=GeneReviews:NBK1162|Genetic_Alliance:Mucopolysaccharidosis+type+I/4912|MedGen:C0086795|OMIM:607014;DATES_ORDERED=1993-08-01 4 998181 . A T . . START=998181;STOP=998181;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=11911;RCV=RCV000012686;SCV=SCV000032921;ALLELE_ID=38456;SYMBOL=IDUA;HGVS_C=NM_000203.4:c.1962A>T;HGVS_P=NP_000194.2:p.Ter654Cys;MOLECULAR_CONSEQUENCE=NM_000203.4:c.1962A>T:stop_lost|NR_110313.1:n.2054A>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hurler_syndrome|HURLER_SYNDROME;ALL_PMIDS=20301341|8328452;ORIGIN=germline;XREFS=GeneReviews:NBK1162|Genetic_Alliance:Mucopolysaccharidosis+type+I/4912|MedGen:C0086795|OMIM:607014;DATES_ORDERED=1993-08-01 +4 1806111 . T G . . START=1806111;STOP=1806111;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441276;RCV=RCV000017763;SCV=SCV000038041;ALLELE_ID=38477;SYMBOL=FGFR3;HGVS_C=NM_022965.3:c.931-440T>G;HGVS_P=NP_001156685.1:p.Leu379Arg;MOLECULAR_CONSEQUENCE=NM_000142.4:c.1130T>G:missense_variant|NM_022965.3:c.931-440T>G:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Achondroplasia|ACHONDROPLASIA;ALL_PMIDS=16411219|20301331;DISEASE_MECHANISM=gain_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1152|GeneTests:2789|Genetic_Alliance:Achondroplasia/113|Genetic_Testing_Registry_(GTR):GTR000017792|Genetic_Testing_Registry_(GTR):GTR000193973|Genetic_Testing_Registry_(GTR):GTR000226127|Genetic_Testing_Registry_(GTR):GTR000320916|Genetic_Testing_Registry_(GTR):GTR000325183|Genetic_Testing_Registry_(GTR):GTR000327662|Genetic_Testing_Registry_(GTR):GTR000327663|Genetic_Testing_Registry_(GTR):GTR000332463|Genetic_Testing_Registry_(GTR):GTR000333529|Genetic_Testing_Registry_(GTR):GTR000500431|Genetic_Testing_Registry_(GTR):GTR000501373|Genetic_Testing_Registry_(GTR):GTR000508438|Genetic_Testing_Registry_(GTR):GTR000508854|Genetic_Testing_Registry_(GTR):GTR000508972|Genetic_Testing_Registry_(GTR):GTR000510685|Genetic_Testing_Registry_(GTR):GTR000510735|Genetic_Testing_Registry_(GTR):GTR000512698|Genetic_Testing_Registry_(GTR):GTR000514902|Genetic_Testing_Registry_(GTR):GTR000515562|Genetic_Testing_Registry_(GTR):GTR000518899|Genetic_Testing_Registry_(GTR):GTR000522269|Genetic_Testing_Registry_(GTR):GTR000522270|Genetic_Testing_Registry_(GTR):GTR000522271|Genetic_Testing_Registry_(GTR):GTR000522272|Genetic_Testing_Registry_(GTR):GTR000523319|Genetic_Testing_Registry_(GTR):GTR000529586|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000552209|Genetic_Testing_Registry_(GTR):GTR000552289|Genetic_Testing_Registry_(GTR):GTR000553542|Genetic_Testing_Registry_(GTR):GTR000556521|MedGen:C0001080|OMIM:100800|Office_of_Rare_Diseases:8173|Orphanet:15|SNOMED_CT:86268005;DATES_ORDERED=2006-02-01 +4 1806119 . G A . . START=1806119;STOP=1806119;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441276;RCV=RCV000017763;SCV=SCV000038041;ALLELE_ID=31366;SYMBOL=FGFR3;HGVS_C=NM_022965.3:c.931-432G>A;HGVS_P=NP_001156685.1:p.Gly382Arg;MOLECULAR_CONSEQUENCE=NM_000142.4:c.1138G>A:missense_variant|NM_022965.3:c.931-432G>A:intron_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_26..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Achondroplasia|ACHONDROPLASIA;ALL_PMIDS=16411219|20301331;DISEASE_MECHANISM=gain_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1152|GeneTests:2789|Genetic_Alliance:Achondroplasia/113|Genetic_Testing_Registry_(GTR):GTR000017792|Genetic_Testing_Registry_(GTR):GTR000193973|Genetic_Testing_Registry_(GTR):GTR000226127|Genetic_Testing_Registry_(GTR):GTR000320916|Genetic_Testing_Registry_(GTR):GTR000325183|Genetic_Testing_Registry_(GTR):GTR000327662|Genetic_Testing_Registry_(GTR):GTR000327663|Genetic_Testing_Registry_(GTR):GTR000332463|Genetic_Testing_Registry_(GTR):GTR000333529|Genetic_Testing_Registry_(GTR):GTR000500431|Genetic_Testing_Registry_(GTR):GTR000501373|Genetic_Testing_Registry_(GTR):GTR000508438|Genetic_Testing_Registry_(GTR):GTR000508854|Genetic_Testing_Registry_(GTR):GTR000508972|Genetic_Testing_Registry_(GTR):GTR000510685|Genetic_Testing_Registry_(GTR):GTR000510735|Genetic_Testing_Registry_(GTR):GTR000512698|Genetic_Testing_Registry_(GTR):GTR000514902|Genetic_Testing_Registry_(GTR):GTR000515562|Genetic_Testing_Registry_(GTR):GTR000518899|Genetic_Testing_Registry_(GTR):GTR000522269|Genetic_Testing_Registry_(GTR):GTR000522270|Genetic_Testing_Registry_(GTR):GTR000522271|Genetic_Testing_Registry_(GTR):GTR000522272|Genetic_Testing_Registry_(GTR):GTR000523319|Genetic_Testing_Registry_(GTR):GTR000529586|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000552209|Genetic_Testing_Registry_(GTR):GTR000552289|Genetic_Testing_Registry_(GTR):GTR000553542|Genetic_Testing_Registry_(GTR):GTR000556521|MedGen:C0001080|OMIM:100800|Office_of_Rare_Diseases:8173|Orphanet:15|SNOMED_CT:86268005;DATES_ORDERED=2006-02-01 +4 1807123 . A G . . START=1807123;STOP=1807123;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441277;RCV=RCV000017771;SCV=SCV000038050;ALLELE_ID=38478;SYMBOL=FGFR3;HGVS_C=NM_001163213.1:c.1460A>G;HGVS_P=NP_001156685.1:p.Gln487Arg;MOLECULAR_CONSEQUENCE=NM_000142.4:c.1454A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..2009;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Thanatophoric_dysplasia_type_1|THANATOPHORIC_DYSPLASIA..TYPE_I;ALL_PMIDS=19449430|20301540;DISEASE_MECHANISM=gain_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1366|Genetic_Alliance:Thanatophoric+dysplasia+type+1/7051|Genetic_Testing_Registry_(GTR):GTR000226129|Genetic_Testing_Registry_(GTR):GTR000320916|Genetic_Testing_Registry_(GTR):GTR000327662|Genetic_Testing_Registry_(GTR):GTR000327663|Genetic_Testing_Registry_(GTR):GTR000327813|Genetic_Testing_Registry_(GTR):GTR000333529|Genetic_Testing_Registry_(GTR):GTR000508438|Genetic_Testing_Registry_(GTR):GTR000508854|Genetic_Testing_Registry_(GTR):GTR000508990|Genetic_Testing_Registry_(GTR):GTR000510735|Genetic_Testing_Registry_(GTR):GTR000512698|Genetic_Testing_Registry_(GTR):GTR000514902|Genetic_Testing_Registry_(GTR):GTR000515562|Genetic_Testing_Registry_(GTR):GTR000518899|Genetic_Testing_Registry_(GTR):GTR000522269|Genetic_Testing_Registry_(GTR):GTR000522270|Genetic_Testing_Registry_(GTR):GTR000522271|Genetic_Testing_Registry_(GTR):GTR000522272|Genetic_Testing_Registry_(GTR):GTR000530324|Genetic_Testing_Registry_(GTR):GTR000552289|Genetic_Testing_Registry_(GTR):GTR000553542|MedGen:C1868678|OMIM:187600|Office_of_Rare_Diseases:9295|Orphanet:1860|Orphanet:2655;DATES_ORDERED=2009-06-01 +4 1807371 . C A . . START=1807371;STOP=1807371;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441277;RCV=RCV000017771;SCV=SCV000038050;ALLELE_ID=31376;SYMBOL=FGFR3;HGVS_C=NM_001163213.1:c.1626C>A;HGVS_P=NP_001156685.1:p.Asn542Lys;MOLECULAR_CONSEQUENCE=NM_000142.4:c.1620C>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_16..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Thanatophoric_dysplasia_type_1|THANATOPHORIC_DYSPLASIA..TYPE_I;ALL_PMIDS=19449430|20301540;DISEASE_MECHANISM=gain_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1366|Genetic_Alliance:Thanatophoric+dysplasia+type+1/7051|Genetic_Testing_Registry_(GTR):GTR000226129|Genetic_Testing_Registry_(GTR):GTR000320916|Genetic_Testing_Registry_(GTR):GTR000327662|Genetic_Testing_Registry_(GTR):GTR000327663|Genetic_Testing_Registry_(GTR):GTR000327813|Genetic_Testing_Registry_(GTR):GTR000333529|Genetic_Testing_Registry_(GTR):GTR000508438|Genetic_Testing_Registry_(GTR):GTR000508854|Genetic_Testing_Registry_(GTR):GTR000508990|Genetic_Testing_Registry_(GTR):GTR000510735|Genetic_Testing_Registry_(GTR):GTR000512698|Genetic_Testing_Registry_(GTR):GTR000514902|Genetic_Testing_Registry_(GTR):GTR000515562|Genetic_Testing_Registry_(GTR):GTR000518899|Genetic_Testing_Registry_(GTR):GTR000522269|Genetic_Testing_Registry_(GTR):GTR000522270|Genetic_Testing_Registry_(GTR):GTR000522271|Genetic_Testing_Registry_(GTR):GTR000522272|Genetic_Testing_Registry_(GTR):GTR000530324|Genetic_Testing_Registry_(GTR):GTR000552289|Genetic_Testing_Registry_(GTR):GTR000553542|MedGen:C1868678|OMIM:187600|Office_of_Rare_Diseases:9295|Orphanet:1860|Orphanet:2655;DATES_ORDERED=2009-06-01 4 70898903 . G A . . START=70898903;STOP=70898903;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=14913;RCV=RCV000016048;SCV=SCV000036315;ALLELE_ID=38467;SYMBOL=HTN3;HGVS_C=NM_000200.2:c.122G>A;HGVS_P=NP_000191.1:p.Arg41Gln;MOLECULAR_CONSEQUENCE=NM_000200.2:c.122G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1994;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HIS2*1/HIS2*2_POLYMORPHISM|HIS2*1/HIS2*2_POLYMORPHISM;ALL_PMIDS=7951254;ORIGIN=germline;XREFS=OMIM:142702.0001;DATES_ORDERED=1994-01-01 4 70898922 . T A . . START=70898922;STOP=70898922;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=14913;RCV=RCV000016048;SCV=SCV000036315;ALLELE_ID=29952;SYMBOL=HTN3;HGVS_C=NM_000200.2:c.141T>A;HGVS_P=NP_000191.1:p.Tyr47Ter;MOLECULAR_CONSEQUENCE=NM_000200.2:c.141T>A:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1994;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HIS2*1/HIS2*2_POLYMORPHISM|HIS2*1/HIS2*2_POLYMORPHISM;ALL_PMIDS=7951254;ORIGIN=germline;XREFS=OMIM:142702.0001;DATES_ORDERED=1994-01-01 4 103189073 . C G . . START=103189073;STOP=103189073;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=218898;RCV=RCV000203237;SCV=SCV000258313;ALLELE_ID=215658;SYMBOL=SLC39A8;HGVS_C=NM_022154.5:c.1004G>C;HGVS_P=NP_071437.3:p.Ser335Thr;MOLECULAR_CONSEQUENCE=NM_022154.5:c.1004G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_03..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIn|CONGENITAL_DISORDER_OF_GLYCOSYLATION..TYPE_IIn;ALL_PMIDS=26637979;ORIGIN=germline;XREFS=MedGen:C4225234|OMIM:608732.0001|OMIM:608732.0002|OMIM:608732.0003|OMIM:608732.0004|OMIM:616721;DATES_ORDERED=2015-12-03 @@ -274,78 +292,84 @@ 5 225549 . G C . . START=225549;STOP=225549;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=190221;RCV=RCV000170440;SCV=SCV000222878;ALLELE_ID=188048;SYMBOL=SDHA;HGVS_C=NM_004168.3:c.328G>C;HGVS_P=NP_004159.2:p.Ala110Pro;MOLECULAR_CONSEQUENCE=NM_001294332.1:c.313-449G>C:intron_variant|NM_004168.3:c.328G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_10..2015;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Mitochondrial_complex_II_deficiency|Mitochondrial_complex_II_deficiency;ALL_PMIDS=10746566|22972948;ORIGIN=germline;XREFS=Genetic_Alliance:Mitochondrial+complex+II+deficiency/4824|MedGen:C1855008|OMIM:252011|Office_of_Rare_Diseases:5053|Orphanet:3208;DATES_ORDERED=2015-03-10 5 240589 . A G . . START=240589;STOP=240589;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=190221;RCV=RCV000170440;SCV=SCV000222878;ALLELE_ID=188049;SYMBOL=SDHA;HGVS_C=NM_004168.3:c.1549A>G;HGVS_P=NP_004159.2:p.Lys517Glu;MOLECULAR_CONSEQUENCE=NM_004168.3:c.1549A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_10..2016;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Mitochondrial_complex_II_deficiency|Mitochondrial_complex_II_deficiency;ALL_PMIDS=10746566|22972948;ORIGIN=germline;XREFS=Genetic_Alliance:Mitochondrial+complex+II+deficiency/4824|MedGen:C1855008|OMIM:252011|Office_of_Rare_Diseases:5053|Orphanet:3208;DATES_ORDERED=2015-03-10 5 1266634 . C T . . START=1266634;STOP=1266634;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=36946;RCV=RCV000030627;SCV=SCV000053305;ALLELE_ID=45604;SYMBOL=TERT;HGVS_C=NM_198253.2:c.2599G>A;HGVS_P=NP_937983.2:p.Val867Met;MOLECULAR_CONSEQUENCE=NM_198253.2:c.2599G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..2011;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Pulmonary_fibrosis_and/or_bone_marrow_failure..telomere-related..1|PULMONARY_FIBROSIS..TELOMERE-RELATED..1;ALL_PMIDS=21483807;ORIGIN=germline;XREFS=MedGen:C3553617|OMIM:187270.0001|OMIM:187270.0002|OMIM:187270.0003|OMIM:187270.0004|OMIM:187270.0005|OMIM:187270.0008|OMIM:187270.0009|OMIM:187270.0010|OMIM:187270.0015|OMIM:187270.0016|OMIM:187270.0017|OMIM:614742|Orphanet:88;DATES_ORDERED=2011-03-01 -5 1272311 . C T . . START=1272311;STOP=1272311;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=36946;RCV=RCV000030627;SCV=SCV000053305;ALLELE_ID=45603;SYMBOL=TERT;HGVS_C=NM_198253.2:c.2371G>A;HGVS_P=NP_937983.2:p.Val791Ile;MOLECULAR_CONSEQUENCE=NM_198253.2:c.2371G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_05..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Pulmonary_fibrosis_and/or_bone_marrow_failure..telomere-related..1|PULMONARY_FIBROSIS..TELOMERE-RELATED..1;ALL_PMIDS=21483807;ORIGIN=germline;XREFS=MedGen:C3553617|OMIM:187270.0001|OMIM:187270.0002|OMIM:187270.0003|OMIM:187270.0004|OMIM:187270.0005|OMIM:187270.0008|OMIM:187270.0009|OMIM:187270.0010|OMIM:187270.0015|OMIM:187270.0016|OMIM:187270.0017|OMIM:614742|Orphanet:88;DATES_ORDERED=2011-03-01 +5 1272311 . C T . . START=1272311;STOP=1272311;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=36946;RCV=RCV000030627;SCV=SCV000053305;ALLELE_ID=45603;SYMBOL=TERT;HGVS_C=NM_198253.2:c.2371G>A;HGVS_P=NP_937983.2:p.Val791Ile;MOLECULAR_CONSEQUENCE=NM_198253.2:c.2371G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_18..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Pulmonary_fibrosis_and/or_bone_marrow_failure..telomere-related..1|PULMONARY_FIBROSIS..TELOMERE-RELATED..1;ALL_PMIDS=21483807;ORIGIN=germline;XREFS=MedGen:C3553617|OMIM:187270.0001|OMIM:187270.0002|OMIM:187270.0003|OMIM:187270.0004|OMIM:187270.0005|OMIM:187270.0008|OMIM:187270.0009|OMIM:187270.0010|OMIM:187270.0015|OMIM:187270.0016|OMIM:187270.0017|OMIM:614742|Orphanet:88;DATES_ORDERED=2011-03-01 5 41853537 . A T . . START=41853537;STOP=41853537;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=8165;RCV=RCV000008643;SCV=SCV000028852;ALLELE_ID=38389;SYMBOL=OXCT1;HGVS_C=NM_000436.3:c.398T>A;HGVS_P=NP_000427.1:p.Val133Glu;MOLECULAR_CONSEQUENCE=NM_000436.3:c.398T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Succinyl-CoA_acetoacetate_transferase_deficiency|SUCCINYL-CoA:3-OXOACID-CoA_TRANSFERASE_DEFICIENCY;ALL_PMIDS=9671268;ORIGIN=germline;XREFS=Genetic_Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918|MedGen:C0342792|OMIM:245050|Office_of_Rare_Diseases:5057|Orphanet:832|SNOMED_CT:238004006;DATES_ORDERED=1998-01-01 -5 41862758 . G A . . START=41862758;STOP=41862758;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=8165;RCV=RCV000008643;SCV=SCV000028852;ALLELE_ID=23204;SYMBOL=OXCT1;HGVS_C=NM_000436.3:c.173C>T;HGVS_P=NP_000427.1:p.Thr58Met;MOLECULAR_CONSEQUENCE=NM_000436.3:c.173C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Succinyl-CoA_acetoacetate_transferase_deficiency|SUCCINYL-CoA:3-OXOACID-CoA_TRANSFERASE_DEFICIENCY;ALL_PMIDS=9671268;ORIGIN=germline;XREFS=Genetic_Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918|MedGen:C0342792|OMIM:245050|Office_of_Rare_Diseases:5057|Orphanet:832|SNOMED_CT:238004006;DATES_ORDERED=1998-01-01 -5 112043220 . A C . . START=112043220;STOP=112043220;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=243004;RCV=RCV000234986;SCV=SCV000292335;ALLELE_ID=244097;SYMBOL=APC;HGVS_C=NM_001127511.2:c.-195A>C;MOLECULAR_CONSEQUENCE=NM_001127511.2:c.-195A>C:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_12..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_adenomatous_polyposis_1|FAMILIAL_ADENOMATOUS_POLYPOSIS_1_OF_PROXIMAL_STOMACH;ALL_PMIDS=11598466|15604628|20301519|21368914|21813476|23788249|24310308|25356965|25452455|25645574|27087319|27854360;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1345|Genetic_Testing_Registry_(GTR):GTR000172265|Genetic_Testing_Registry_(GTR):GTR000321103|Genetic_Testing_Registry_(GTR):GTR000326160|Genetic_Testing_Registry_(GTR):GTR000330056|Genetic_Testing_Registry_(GTR):GTR000500363|Genetic_Testing_Registry_(GTR):GTR000500599|Genetic_Testing_Registry_(GTR):GTR000500894|Genetic_Testing_Registry_(GTR):GTR000501393|Genetic_Testing_Registry_(GTR):GTR000501394|Genetic_Testing_Registry_(GTR):GTR000501794|Genetic_Testing_Registry_(GTR):GTR000508954|Genetic_Testing_Registry_(GTR):GTR000512300|Genetic_Testing_Registry_(GTR):GTR000512645|Genetic_Testing_Registry_(GTR):GTR000515534|Genetic_Testing_Registry_(GTR):GTR000515885|Genetic_Testing_Registry_(GTR):GTR000515899|Genetic_Testing_Registry_(GTR):GTR000520026|Genetic_Testing_Registry_(GTR):GTR000520047|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520077|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520868|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000521915|Genetic_Testing_Registry_(GTR):GTR000522559|Genetic_Testing_Registry_(GTR):GTR000527982|Genetic_Testing_Registry_(GTR):GTR000527984|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000529017|Genetic_Testing_Registry_(GTR):GTR000530028|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000552245|Genetic_Testing_Registry_(GTR):GTR000552290|Genetic_Testing_Registry_(GTR):GTR000552303|MedGen:C2713442|OMIM:175100|OMIM:611731.0021|OMIM:611731.0028|OMIM:611731.0034|OMIM:611731.0035|OMIM:611731.0036|OMIM:611731.0038|OMIM:611731.0042|OMIM:611731.0043|OMIM:611731.0049;DATES_ORDERED=2016-07-12 -5 112043289 . GA G . . START=112043290;STOP=112043290;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=243004;RCV=RCV000234986;SCV=SCV000292335;ALLELE_ID=244084;SYMBOL=APC;HGVS_C=NM_001127511.2:c.-125delA;MOLECULAR_CONSEQUENCE=NM_001127511.2:c.-125delA:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_12..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_adenomatous_polyposis_1|FAMILIAL_ADENOMATOUS_POLYPOSIS_1_OF_PROXIMAL_STOMACH;ALL_PMIDS=11598466|15604628|20301519|21368914|21813476|23788249|24310308|25356965|25452455|25645574|27087319|27854360;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1345|Genetic_Testing_Registry_(GTR):GTR000172265|Genetic_Testing_Registry_(GTR):GTR000321103|Genetic_Testing_Registry_(GTR):GTR000326160|Genetic_Testing_Registry_(GTR):GTR000330056|Genetic_Testing_Registry_(GTR):GTR000500363|Genetic_Testing_Registry_(GTR):GTR000500599|Genetic_Testing_Registry_(GTR):GTR000500894|Genetic_Testing_Registry_(GTR):GTR000501393|Genetic_Testing_Registry_(GTR):GTR000501394|Genetic_Testing_Registry_(GTR):GTR000501794|Genetic_Testing_Registry_(GTR):GTR000508954|Genetic_Testing_Registry_(GTR):GTR000512300|Genetic_Testing_Registry_(GTR):GTR000512645|Genetic_Testing_Registry_(GTR):GTR000515534|Genetic_Testing_Registry_(GTR):GTR000515885|Genetic_Testing_Registry_(GTR):GTR000515899|Genetic_Testing_Registry_(GTR):GTR000520026|Genetic_Testing_Registry_(GTR):GTR000520047|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520077|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520868|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000521915|Genetic_Testing_Registry_(GTR):GTR000522559|Genetic_Testing_Registry_(GTR):GTR000527982|Genetic_Testing_Registry_(GTR):GTR000527984|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000529017|Genetic_Testing_Registry_(GTR):GTR000530028|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000552245|Genetic_Testing_Registry_(GTR):GTR000552290|Genetic_Testing_Registry_(GTR):GTR000552303|MedGen:C2713442|OMIM:175100|OMIM:611731.0021|OMIM:611731.0028|OMIM:611731.0034|OMIM:611731.0035|OMIM:611731.0036|OMIM:611731.0038|OMIM:611731.0042|OMIM:611731.0043|OMIM:611731.0049;DATES_ORDERED=2016-07-12 +5 41862758 . G A . . START=41862758;STOP=41862758;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=8165;RCV=RCV000008643;SCV=SCV000028852;ALLELE_ID=23204;SYMBOL=OXCT1;HGVS_C=NM_000436.3:c.173C>T;HGVS_P=NP_000427.1:p.Thr58Met;MOLECULAR_CONSEQUENCE=NM_000436.3:c.173C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_31..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Succinyl-CoA_acetoacetate_transferase_deficiency|SUCCINYL-CoA:3-OXOACID-CoA_TRANSFERASE_DEFICIENCY;ALL_PMIDS=9671268;ORIGIN=germline;XREFS=Genetic_Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918|MedGen:C0342792|OMIM:245050|Office_of_Rare_Diseases:5057|Orphanet:832|SNOMED_CT:238004006;DATES_ORDERED=1998-01-01 +5 112043220 . A C . . START=112043220;STOP=112043220;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=243004;RCV=RCV000234986;SCV=SCV000292335;ALLELE_ID=244097;SYMBOL=APC;HGVS_C=NM_001127511.2:c.-195A>C;MOLECULAR_CONSEQUENCE=NM_001127511.2:c.-195A>C:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_12..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_adenomatous_polyposis_1|FAMILIAL_ADENOMATOUS_POLYPOSIS_1_OF_PROXIMAL_STOMACH;ALL_PMIDS=11598466|15604628|20301519|21368914|21813476|23788249|24310308|25356965|25452455|25645574|27087319|27854360;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1345|Genetic_Testing_Registry_(GTR):GTR000172265|Genetic_Testing_Registry_(GTR):GTR000321103|Genetic_Testing_Registry_(GTR):GTR000326160|Genetic_Testing_Registry_(GTR):GTR000330056|Genetic_Testing_Registry_(GTR):GTR000500363|Genetic_Testing_Registry_(GTR):GTR000500599|Genetic_Testing_Registry_(GTR):GTR000500894|Genetic_Testing_Registry_(GTR):GTR000501393|Genetic_Testing_Registry_(GTR):GTR000501394|Genetic_Testing_Registry_(GTR):GTR000501794|Genetic_Testing_Registry_(GTR):GTR000508954|Genetic_Testing_Registry_(GTR):GTR000512300|Genetic_Testing_Registry_(GTR):GTR000512645|Genetic_Testing_Registry_(GTR):GTR000515534|Genetic_Testing_Registry_(GTR):GTR000515885|Genetic_Testing_Registry_(GTR):GTR000515899|Genetic_Testing_Registry_(GTR):GTR000520026|Genetic_Testing_Registry_(GTR):GTR000520047|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520077|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520868|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000521915|Genetic_Testing_Registry_(GTR):GTR000522559|Genetic_Testing_Registry_(GTR):GTR000527982|Genetic_Testing_Registry_(GTR):GTR000527984|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000529017|Genetic_Testing_Registry_(GTR):GTR000530028|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000552245|Genetic_Testing_Registry_(GTR):GTR000552290|Genetic_Testing_Registry_(GTR):GTR000552303|Genetic_Testing_Registry_(GTR):GTR000558907|MedGen:C2713442|OMIM:175100|OMIM:611731.0021|OMIM:611731.0028|OMIM:611731.0034|OMIM:611731.0035|OMIM:611731.0036|OMIM:611731.0038|OMIM:611731.0042|OMIM:611731.0043|OMIM:611731.0049;DATES_ORDERED=2016-07-12 +5 112043289 . GA G . . START=112043290;STOP=112043290;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=243004;RCV=RCV000234986;SCV=SCV000292335;ALLELE_ID=244084;SYMBOL=APC;HGVS_C=NM_001127511.2:c.-125delA;MOLECULAR_CONSEQUENCE=NM_001127511.2:c.-125delA:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_12..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_adenomatous_polyposis_1|FAMILIAL_ADENOMATOUS_POLYPOSIS_1_OF_PROXIMAL_STOMACH;ALL_PMIDS=11598466|15604628|20301519|21368914|21813476|23788249|24310308|25356965|25452455|25645574|27087319|27854360;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1345|Genetic_Testing_Registry_(GTR):GTR000172265|Genetic_Testing_Registry_(GTR):GTR000321103|Genetic_Testing_Registry_(GTR):GTR000326160|Genetic_Testing_Registry_(GTR):GTR000330056|Genetic_Testing_Registry_(GTR):GTR000500363|Genetic_Testing_Registry_(GTR):GTR000500599|Genetic_Testing_Registry_(GTR):GTR000500894|Genetic_Testing_Registry_(GTR):GTR000501393|Genetic_Testing_Registry_(GTR):GTR000501394|Genetic_Testing_Registry_(GTR):GTR000501794|Genetic_Testing_Registry_(GTR):GTR000508954|Genetic_Testing_Registry_(GTR):GTR000512300|Genetic_Testing_Registry_(GTR):GTR000512645|Genetic_Testing_Registry_(GTR):GTR000515534|Genetic_Testing_Registry_(GTR):GTR000515885|Genetic_Testing_Registry_(GTR):GTR000515899|Genetic_Testing_Registry_(GTR):GTR000520026|Genetic_Testing_Registry_(GTR):GTR000520047|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520077|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520868|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000521915|Genetic_Testing_Registry_(GTR):GTR000522559|Genetic_Testing_Registry_(GTR):GTR000527982|Genetic_Testing_Registry_(GTR):GTR000527984|Genetic_Testing_Registry_(GTR):GTR000528912|Genetic_Testing_Registry_(GTR):GTR000529017|Genetic_Testing_Registry_(GTR):GTR000530028|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000552245|Genetic_Testing_Registry_(GTR):GTR000552290|Genetic_Testing_Registry_(GTR):GTR000552303|Genetic_Testing_Registry_(GTR):GTR000558907|MedGen:C2713442|OMIM:175100|OMIM:611731.0021|OMIM:611731.0028|OMIM:611731.0034|OMIM:611731.0035|OMIM:611731.0036|OMIM:611731.0038|OMIM:611731.0042|OMIM:611731.0043|OMIM:611731.0049;DATES_ORDERED=2016-07-12 5 135392443 . C A . . START=135392443;STOP=135392443;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7874;RCV=RCV000008323;SCV=SCV000028531;ALLELE_ID=22913;SYMBOL=TGFBI;HGVS_C=NM_000358.2:c.1637C>A;HGVS_P=NP_000349.1:p.Ala546Asp;MOLECULAR_CONSEQUENCE=NM_000358.2:c.1637C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..2004;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Lattice_corneal_dystrophy_Type_I|CORNEAL_DYSTROPHY..LATTICE_TYPE_I;ALL_PMIDS=15111592|15531312;ORIGIN=germline;XREFS=Genetic_Alliance:Lattice+corneal+dystrophy+type+1/4117|Genetics_Home_Reference:lattice-corneal-dystrophy-type-i|MedGen:C1690006|OMIM:122200|Office_of_Rare_Diseases:9678|Orphanet:98964|SNOMED_CT:419197009;DATES_ORDERED=2004-11-01 5 135392458 . C A . . START=135392458;STOP=135392458;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7874;RCV=RCV000008323;SCV=SCV000028531;ALLELE_ID=38388;SYMBOL=TGFBI;HGVS_C=NM_000358.2:c.1652C>A;HGVS_P=NP_000349.1:p.Pro551Gln;MOLECULAR_CONSEQUENCE=NM_000358.2:c.1652C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..2004;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Lattice_corneal_dystrophy_Type_I|CORNEAL_DYSTROPHY..LATTICE_TYPE_I;ALL_PMIDS=15111592|15531312;ORIGIN=germline;XREFS=Genetic_Alliance:Lattice+corneal+dystrophy+type+1/4117|Genetics_Home_Reference:lattice-corneal-dystrophy-type-i|MedGen:C1690006|OMIM:122200|Office_of_Rare_Diseases:9678|Orphanet:98964|SNOMED_CT:419197009;DATES_ORDERED=2004-11-01 +5 171777409 . GC G . . START=171777410;STOP=171777410;STRAND=-;VARIATION_TYPE=Distinct_chromosomes;VARIATION_ID=488055;RCV=RCV000577875;SCV=SCV000583573;ALLELE_ID=15228;SYMBOL=SH3PXD2B;HGVS_C=NM_001017995.2:c.969delG;HGVS_P=NP_001017995.1:p.Arg324Glyfs;MOLECULAR_CONSEQUENCE=NM_001017995.2:c.969delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Frank_Ter_Haar_syndrome|Opsismodysplasia;ALL_PMIDS=1|20137777|29276006;ORIGIN=unknown;XREFS=Genetic_Alliance:Frank+Ter+Haar+Syndrome/2915|Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|MedGen:C1855305|OMIM:249420|OMIM:258480|Office_of_Rare_Diseases:4098|Office_of_Rare_Diseases:5138|Orphanet:137834|Orphanet:2746|SNOMED_CT:254068007;DATES_ORDERED=2017-06-01 5 176942003 . G T . . START=176942003;STOP=176942003;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=403734;RCV=RCV000465916;SCV=SCV000541081;ALLELE_ID=390711;SYMBOL=DDX41;HGVS_C=NM_016222.3:c.712C>A;HGVS_P=NP_057306.2:p.Pro238Thr;MOLECULAR_CONSEQUENCE=NM_016222.3:c.712C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Acute_myeloid_leukemia|Myelodysplasia;ALL_PMIDS=20963938|22138009|23970018|26944477;ORIGIN=germline;XREFS=GeneReviews:NBK47457|Genetic_Testing_Registry_(GTR):GTR000500636|Human_Phenotype_Ontology:HP:0002863|Human_Phenotype_Ontology:HP:0004832|Human_Phenotype_Ontology:HP:0006730|MeSH:D015470|MedGen:C0023467|MedGen:C1851971|OMIM:601626|Orphanet:519|SNOMED_CT:17788007;DATES_ORDERED=0000-00-00 5 176942004 . C A . . START=176942004;STOP=176942004;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=403734;RCV=RCV000465916;SCV=SCV000541081;ALLELE_ID=390712;SYMBOL=DDX41;HGVS_C=NM_016222.3:c.711G>T;HGVS_P=NP_057306.2:p.Leu237Phe;MOLECULAR_CONSEQUENCE=NM_016222.3:c.711G>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Acute_myeloid_leukemia|Myelodysplasia;ALL_PMIDS=20963938|22138009|23970018|26944477;ORIGIN=germline;XREFS=GeneReviews:NBK47457|Genetic_Testing_Registry_(GTR):GTR000500636|Human_Phenotype_Ontology:HP:0002863|Human_Phenotype_Ontology:HP:0004832|Human_Phenotype_Ontology:HP:0006730|MeSH:D015470|MedGen:C0023467|MedGen:C1851971|OMIM:601626|Orphanet:519|SNOMED_CT:17788007;DATES_ORDERED=0000-00-00 6 10874613 . A T . . START=10874613;STOP=10874613;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=375590;RCV=RCV000417072;SCV=SCV000494617;ALLELE_ID=362401;SYMBOL=GCM2;HGVS_C=NM_004752.3:c.1136T>A;HGVS_P=NP_004743.1:p.Leu379Gln;MOLECULAR_CONSEQUENCE=NM_004752.3:c.1136T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hyperparathyroidism_4|HYPERPARATHYROIDISM_4;ALL_PMIDS=27745835;ORIGIN=germline;XREFS=MedGen:CN240514|OMIM:617343;DATES_ORDERED=2017-02-10 6 10874998 . G C . . START=10874998;STOP=10874998;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=375590;RCV=RCV000417072;SCV=SCV000494617;ALLELE_ID=362400;SYMBOL=GCM2;HGVS_C=NM_004752.3:c.751C>G;HGVS_P=NP_004743.1:p.Gln251Glu;MOLECULAR_CONSEQUENCE=NM_004752.3:c.751C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hyperparathyroidism_4|HYPERPARATHYROIDISM_4;ALL_PMIDS=27745835;ORIGIN=germline;XREFS=MedGen:CN240514|OMIM:617343;DATES_ORDERED=2017-02-10 -6 18130918 . T C . . START=18130918;STOP=18130918;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=12722;RCV=RCV000013559;SCV=SCV000033806;ALLELE_ID=27764;SYMBOL=TPMT;HGVS_C=NM_000367.4:c.719A>G;HGVS_P=NP_000358.1:p.Tyr240Cys;MOLECULAR_CONSEQUENCE=NM_000367.4:c.719A>G:missense_variant;CLINICAL_SIGNIFICANCE=drug_response..other;CLINICAL_SIGNIFICANCE_ORDERED=drug_response;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_21..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Thiopurine_methyltransferase_deficiency|THIOPURINES..POOR_METABOLISM_OF..1;ALL_PMIDS=10208641|12880540|15819814|15967990|8561894|8644731|9177237|9336428|9931345|9931346;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Thiopurine+S+methyltranferase+deficiency/54|Genetic_Testing_Registry_(GTR):GTR000299976|Genetic_Testing_Registry_(GTR):GTR000502252|Genetic_Testing_Registry_(GTR):GTR000509706|Genetic_Testing_Registry_(GTR):GTR000520079|Genetic_Testing_Registry_(GTR):GTR000522313|Genetic_Testing_Registry_(GTR):GTR000522314|Genetic_Testing_Registry_(GTR):GTR000525921|Genetic_Testing_Registry_(GTR):GTR000553222|MedGen:C0342801|OMIM:187680.0001|OMIM:187680.0002|OMIM:187680.0003|OMIM:187680.0004|OMIM:187680.0005|OMIM:187680.0006|OMIM:187680.0007|OMIM:610460|Office_of_Rare_Diseases:5173|Office_of_Rare_Diseases:9153|PharmGKB:PA356|SNOMED_CT:238012003;DATES_ORDERED=2005-06-28 -6 18139228 . C T . . START=18139228;STOP=18139228;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=12722;RCV=RCV000013559;SCV=SCV000033806;ALLELE_ID=27761;SYMBOL=TPMT;HGVS_C=NM_000367.4:c.460G>A;HGVS_P=NP_000358.1:p.Ala154Thr;MOLECULAR_CONSEQUENCE=NM_000367.4:c.460G>A:missense_variant;CLINICAL_SIGNIFICANCE=drug_response..other;CLINICAL_SIGNIFICANCE_ORDERED=drug_response;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Thiopurine_methyltransferase_deficiency|THIOPURINES..POOR_METABOLISM_OF..1;ALL_PMIDS=10208641|12880540|15819814|15967990|8561894|8644731|9177237|9336428|9931345|9931346;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Thiopurine+S+methyltranferase+deficiency/54|Genetic_Testing_Registry_(GTR):GTR000299976|Genetic_Testing_Registry_(GTR):GTR000502252|Genetic_Testing_Registry_(GTR):GTR000509706|Genetic_Testing_Registry_(GTR):GTR000520079|Genetic_Testing_Registry_(GTR):GTR000522313|Genetic_Testing_Registry_(GTR):GTR000522314|Genetic_Testing_Registry_(GTR):GTR000525921|Genetic_Testing_Registry_(GTR):GTR000553222|MedGen:C0342801|OMIM:187680.0001|OMIM:187680.0002|OMIM:187680.0003|OMIM:187680.0004|OMIM:187680.0005|OMIM:187680.0006|OMIM:187680.0007|OMIM:610460|Office_of_Rare_Diseases:5173|Office_of_Rare_Diseases:9153|PharmGKB:PA356|SNOMED_CT:238012003;DATES_ORDERED=2005-06-28 +6 18130918 . T C . . START=18130918;STOP=18130918;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=12722;RCV=RCV000013559;SCV=SCV000033806;ALLELE_ID=27764;SYMBOL=TPMT;HGVS_C=NM_000367.4:c.719A>G;HGVS_P=NP_000358.1:p.Tyr240Cys;MOLECULAR_CONSEQUENCE=NM_000367.4:c.719A>G:missense_variant;CLINICAL_SIGNIFICANCE=drug_response..other;CLINICAL_SIGNIFICANCE_ORDERED=drug_response;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_21..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Thiopurine_methyltransferase_deficiency|THIOPURINES..POOR_METABOLISM_OF..1;ALL_PMIDS=10208641|12880540|15819814|15967990|8561894|8644731|9177237|9336428|9931345|9931346;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Thiopurine+S+methyltranferase+deficiency/54|Genetic_Testing_Registry_(GTR):GTR000299976|Genetic_Testing_Registry_(GTR):GTR000502252|Genetic_Testing_Registry_(GTR):GTR000509706|Genetic_Testing_Registry_(GTR):GTR000520079|Genetic_Testing_Registry_(GTR):GTR000522313|Genetic_Testing_Registry_(GTR):GTR000522314|Genetic_Testing_Registry_(GTR):GTR000525921|Genetic_Testing_Registry_(GTR):GTR000553222|Genetic_Testing_Registry_(GTR):GTR000558523|MedGen:C0342801|OMIM:187680.0001|OMIM:187680.0002|OMIM:187680.0003|OMIM:187680.0004|OMIM:187680.0005|OMIM:187680.0006|OMIM:187680.0007|OMIM:610460|Office_of_Rare_Diseases:5173|Office_of_Rare_Diseases:9153|PharmGKB:PA356|SNOMED_CT:238012003;DATES_ORDERED=2005-06-28 +6 18139228 . C T . . START=18139228;STOP=18139228;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=12722;RCV=RCV000013559;SCV=SCV000033806;ALLELE_ID=27761;SYMBOL=TPMT;HGVS_C=NM_000367.4:c.460G>A;HGVS_P=NP_000358.1:p.Ala154Thr;MOLECULAR_CONSEQUENCE=NM_000367.4:c.460G>A:missense_variant;CLINICAL_SIGNIFICANCE=drug_response..other;CLINICAL_SIGNIFICANCE_ORDERED=drug_response;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Thiopurine_methyltransferase_deficiency|THIOPURINES..POOR_METABOLISM_OF..1;ALL_PMIDS=10208641|12880540|15819814|15967990|8561894|8644731|9177237|9336428|9931345|9931346;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Thiopurine+S+methyltranferase+deficiency/54|Genetic_Testing_Registry_(GTR):GTR000299976|Genetic_Testing_Registry_(GTR):GTR000502252|Genetic_Testing_Registry_(GTR):GTR000509706|Genetic_Testing_Registry_(GTR):GTR000520079|Genetic_Testing_Registry_(GTR):GTR000522313|Genetic_Testing_Registry_(GTR):GTR000522314|Genetic_Testing_Registry_(GTR):GTR000525921|Genetic_Testing_Registry_(GTR):GTR000553222|Genetic_Testing_Registry_(GTR):GTR000558523|MedGen:C0342801|OMIM:187680.0001|OMIM:187680.0002|OMIM:187680.0003|OMIM:187680.0004|OMIM:187680.0005|OMIM:187680.0006|OMIM:187680.0007|OMIM:610460|Office_of_Rare_Diseases:5173|Office_of_Rare_Diseases:9153|PharmGKB:PA356|SNOMED_CT:238012003;DATES_ORDERED=2005-06-28 6 32007584 . T A . . START=32007584;STOP=32007584;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=31662;RCV=RCV000012947;SCV=SCV000033191;ALLELE_ID=33507;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.710T>A;HGVS_P=NP_000491.4:p.Ile237Asn;MOLECULAR_CONSEQUENCE=NM_000500.7:c.710T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_01..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY..SALT-WASTING_TYPE;ALL_PMIDS=15623806|20301350|2249999|2845408;ORIGIN=germline;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2005-04-01 6 32007587 . T A . . START=32007587;STOP=32007587;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=31662|65613;RCV=RCV000012947|RCV000055823;SCV=SCV000033191|SCV000086807;ALLELE_ID=27212;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.713T>A;HGVS_P=NP_000491.4:p.Val238Glu;MOLECULAR_CONSEQUENCE=NM_000500.7:c.713T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathologic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_29..2013;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY..SALT-WASTING_TYPE|21-Hydroxylase-Deficient_Congenital_Adrenal_Hyperplasia;ALL_PMIDS=15623806|20301350|2249999|2845408;ORIGIN=germline|not_provided;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2005-04-01|2013-08-29 6 32007593 . T A . . START=32007593;STOP=32007593;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=31662|65613;RCV=RCV000012947|RCV000055823;SCV=SCV000033191|SCV000086807;ALLELE_ID=40032;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.719T>A;HGVS_P=NP_000491.4:p.Met240Lys;MOLECULAR_CONSEQUENCE=NM_000500.7:c.719T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathologic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_29..2013;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY..SALT-WASTING_TYPE|21-Hydroxylase-Deficient_Congenital_Adrenal_Hyperplasia;ALL_PMIDS=15623806|20301350|2249999|2845408;ORIGIN=germline|not_provided;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2005-04-01|2013-08-29 6 32007887 . G T . . START=32007887;STOP=32007887;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12182;RCV=RCV000417198;SCV=SCV000033208;ALLELE_ID=27190;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.844G>T;HGVS_P=NP_000491.4:p.Val282Leu;MOLECULAR_CONSEQUENCE=NM_000500.7:c.844G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_18..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11093272|12915679|20301350|7629224;ORIGIN=germline;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2003-08-01 6 32007959 . G GT . . START=32007966;STOP=32007966;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12182;RCV=RCV000417198;SCV=SCV000033208;ALLELE_ID=76519;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.923dupT;HGVS_P=NP_000491.4:p.Leu308Phefs;MOLECULAR_CONSEQUENCE=NM_000500.7:c.923dupT:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_29..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11093272|12915679|20301350|7629224;ORIGIN=germline;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2003-08-01 -6 32008198 . C T . . START=32008198;STOP=32008198;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12182;RCV=RCV000417198;SCV=SCV000033208;ALLELE_ID=27208;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.955C>T;HGVS_P=NP_000491.4:p.Gln319Ter;MOLECULAR_CONSEQUENCE=NM_000500.7:c.955C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_03..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11093272|12915679|20301350|7629224;ORIGIN=germline;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2003-08-01 -6 32008312 . C T . . START=32008312;STOP=32008312;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12182;RCV=RCV000417198;SCV=SCV000033208;ALLELE_ID=27191;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.1069C>T;HGVS_P=NP_000491.4:p.Arg357Trp;MOLECULAR_CONSEQUENCE=NM_000500.7:c.1069C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_29..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11093272|12915679|20301350|7629224;ORIGIN=germline;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2003-08-01 +6 32008198 . C T . . START=32008198;STOP=32008198;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12182;RCV=RCV000417198;SCV=SCV000033208;ALLELE_ID=27208;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.955C>T;HGVS_P=NP_000491.4:p.Gln319Ter;MOLECULAR_CONSEQUENCE=NM_000500.7:c.955C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_03..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11093272|12915679|20301350|7629224;ORIGIN=germline;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2003-08-01 +6 32008312 . C T . . START=32008312;STOP=32008312;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12182;RCV=RCV000417198;SCV=SCV000033208;ALLELE_ID=27191;SYMBOL=CYP21A2;HGVS_C=NM_000500.7:c.1069C>T;HGVS_P=NP_000491.4:p.Arg357Trp;MOLECULAR_CONSEQUENCE=NM_000500.7:c.1069C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_16..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=21-hydroxylase_deficiency|ADRENAL_HYPERPLASIA..CONGENITAL..DUE_TO_21-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11093272|12915679|20301350|7629224;ORIGIN=germline;XREFS=GeneReviews:NBK1171|Genetic_Alliance:21-Hydroxylase+Deficiency/19|Genetics_Home_Reference:21-hydroxylase-deficiency|MedGen:C0852654|OMIM:201910|Office_of_Rare_Diseases:5757;DATES_ORDERED=2003-08-01 6 39877666 . G A . . START=39877666;STOP=39877666;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=208497;RCV=RCV000190510;SCV=SCV000245396;ALLELE_ID=205013;SYMBOL=MOCS1;HGVS_C=NM_001075098.3:c.1015C>T;HGVS_P=NP_001068566.1:p.Arg339Trp;MOLECULAR_CONSEQUENCE=NM_001075098.3:c.1015C>T:missense_variant|NR_033233.1:n.1022C>T:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_31..2016;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Molybdenum_cofactor_deficiency..complementation_group_A;ALL_PMIDS=21031595;ORIGIN=germline;XREFS=Genetics_Home_Reference:molybdenum-cofactor-deficiency|MedGen:C1854988|OMIM:252150|Orphanet:833;DATES_ORDERED=2016-05-13 -6 39880653 . C T . . START=39880653;STOP=39880653;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=208497;RCV=RCV000190510;SCV=SCV000245396;ALLELE_ID=205014;SYMBOL=MOCS1;HGVS_C=NM_005943.5:c.853G>A;HGVS_P=NP_005934.2:p.Glu285Lys;MOLECULAR_CONSEQUENCE=NM_001075098.3:c.853G>A:missense_variant|NR_033233.1:n.860G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_31..2016;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Molybdenum_cofactor_deficiency..complementation_group_A;ALL_PMIDS=21031595;ORIGIN=germline;XREFS=Genetics_Home_Reference:molybdenum-cofactor-deficiency|MedGen:C1854988|OMIM:252150|Orphanet:833;DATES_ORDERED=2016-05-13 +6 39880653 . C T . . START=39880653;STOP=39880653;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=208497;RCV=RCV000190510;SCV=SCV000245396;ALLELE_ID=205014;SYMBOL=MOCS1;HGVS_C=NM_005943.5:c.853G>A;HGVS_P=NP_005934.2:p.Glu285Lys;MOLECULAR_CONSEQUENCE=NM_001075098.3:c.853G>A:missense_variant|NR_033233.1:n.860G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_31..2016;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Molybdenum_cofactor_deficiency..complementation_group_A;ALL_PMIDS=21031595;ORIGIN=germline;XREFS=Genetics_Home_Reference:molybdenum-cofactor-deficiency|MedGen:C1854988|OMIM:252150|Orphanet:833;DATES_ORDERED=2016-05-13 6 49580217 . C T . . START=49580217;STOP=49580217;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=13065;RCV=RCV000013940;SCV=SCV000034187;ALLELE_ID=38460;SYMBOL=RHAG;HGVS_C=NM_000324.2:c.838G>A;HGVS_P=NP_000315.2:p.Gly280Arg;MOLECULAR_CONSEQUENCE=NM_000324.2:c.838G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1999;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Rh-null_hemolytic_anemia..regulator_type|RH-NULL_HEMOLYTIC_ANEMIA..REGULATOR_TYPE;ALL_PMIDS=9915949;ORIGIN=germline;XREFS=MedGen:C4016364;DATES_ORDERED=1999-01-01 6 49580247 . C T . . START=49580247;STOP=49580247;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=13065;RCV=RCV000013940;SCV=SCV000034187;ALLELE_ID=28104;SYMBOL=RHAG;HGVS_C=NM_000324.2:c.808G>A;HGVS_P=NP_000315.2:p.Val270Ile;MOLECULAR_CONSEQUENCE=NM_000324.2:c.808G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_18..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Rh-null_hemolytic_anemia..regulator_type|RH-NULL_HEMOLYTIC_ANEMIA..REGULATOR_TYPE;ALL_PMIDS=9915949;ORIGIN=germline;XREFS=MedGen:C4016364;DATES_ORDERED=1999-01-01 -6 52288909 . C A . . START=52288909;STOP=52288909;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=2067;RCV=RCV000002148;SCV=SCV000022306;ALLELE_ID=17106;SYMBOL=EFHC1;HGVS_C=NM_018100.3:c.229C>A;HGVS_P=NP_060570.2:p.Pro77Thr;MOLECULAR_CONSEQUENCE=NM_018100.3:c.229C>A:missense_variant|NR_033327.1:n.444C>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Myoclonic_epilepsy..juvenile_1|MYOCLONIC_EPILEPSY..JUVENILE..SUSCEPTIBILITY_TO..1;ALL_PMIDS=12439895|15258581;ORIGIN=germline;DATES_ORDERED=2004-08-01 -6 52317574 . G A . . START=52317574;STOP=52317574;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=2067;RCV=RCV000002148;SCV=SCV000022306;ALLELE_ID=38421;SYMBOL=EFHC1;HGVS_C=NM_018100.3:c.662G>A;HGVS_P=NP_060570.2:p.Arg221His;MOLECULAR_CONSEQUENCE=NM_018100.3:c.662G>A:missense_variant|NR_033327.1:n.877G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Myoclonic_epilepsy..juvenile_1|MYOCLONIC_EPILEPSY..JUVENILE..SUSCEPTIBILITY_TO..1;ALL_PMIDS=12439895|15258581;ORIGIN=germline;DATES_ORDERED=2004-08-01 +6 52288909 . C A . . START=52288909;STOP=52288909;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=2067;RCV=RCV000002148;SCV=SCV000022306;ALLELE_ID=17106;SYMBOL=EFHC1;HGVS_C=NM_018100.3:c.229C>A;HGVS_P=NP_060570.2:p.Pro77Thr;MOLECULAR_CONSEQUENCE=NM_018100.3:c.229C>A:missense_variant|NR_033327.1:n.444C>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_24..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Myoclonic_epilepsy..juvenile_1|MYOCLONIC_EPILEPSY..JUVENILE..SUSCEPTIBILITY_TO..1;ALL_PMIDS=12439895|15258581;ORIGIN=germline;DATES_ORDERED=2004-08-01 +6 52317574 . G A . . START=52317574;STOP=52317574;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=2067;RCV=RCV000002148;SCV=SCV000022306;ALLELE_ID=38421;SYMBOL=EFHC1;HGVS_C=NM_018100.3:c.662G>A;HGVS_P=NP_060570.2:p.Arg221His;MOLECULAR_CONSEQUENCE=NM_018100.3:c.662G>A:missense_variant|NR_033327.1:n.877G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_24..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Myoclonic_epilepsy..juvenile_1|MYOCLONIC_EPILEPSY..JUVENILE..SUSCEPTIBILITY_TO..1;ALL_PMIDS=12439895|15258581;ORIGIN=germline;DATES_ORDERED=2004-08-01 6 129601216 . A C . . START=129601216;STOP=129601216;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=190218;RCV=RCV000170437;SCV=SCV000222875;ALLELE_ID=188050;SYMBOL=LAMA2;HGVS_C=NM_000426.3:c.2461A>C;HGVS_P=NP_000417.2:p.Thr821Pro;MOLECULAR_CONSEQUENCE=NM_000426.3:c.2461A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_08..2015;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Merosin_deficient_congenital_muscular_dystrophy|Merosin_deficient_congenital_muscular_dystrophy;ALL_PMIDS=20301468|21078917|22420014|22675738;ORIGIN=germline;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985|MedGen:C1263858|OMIM:607855|Office_of_Rare_Diseases:3843|Orphanet:258|SNOMED_CT:111503008;DATES_ORDERED=2015-04-08 -6 129823841 . T C . . START=129823841;STOP=129823841;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=190218;RCV=RCV000170437;SCV=SCV000222875;ALLELE_ID=188051;SYMBOL=LAMA2;HGVS_C=NM_000426.3:c.8282T>C;HGVS_P=NP_000417.2:p.Ile2761Thr;MOLECULAR_CONSEQUENCE=NM_000426.3:c.8282T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_08..2015;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Merosin_deficient_congenital_muscular_dystrophy|Merosin_deficient_congenital_muscular_dystrophy;ALL_PMIDS=20301468|21078917|22420014|22675738;ORIGIN=germline;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985|MedGen:C1263858|OMIM:607855|Office_of_Rare_Diseases:3843|Orphanet:258|SNOMED_CT:111503008;DATES_ORDERED=2015-04-08 +6 129823841 . T C . . START=129823841;STOP=129823841;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=190218;RCV=RCV000170437;SCV=SCV000222875;ALLELE_ID=188051;SYMBOL=LAMA2;HGVS_C=NM_000426.3:c.8282T>C;HGVS_P=NP_000417.2:p.Ile2761Thr;MOLECULAR_CONSEQUENCE=NM_000426.3:c.8282T>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2017;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Merosin_deficient_congenital_muscular_dystrophy|Merosin_deficient_congenital_muscular_dystrophy;ALL_PMIDS=20301468|21078917|22420014|22675738;ORIGIN=germline;XREFS=GeneReviews:NBK1291|Genetic_Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985|MedGen:C1263858|OMIM:607855|Office_of_Rare_Diseases:3843|Orphanet:258|SNOMED_CT:111503008;DATES_ORDERED=2015-04-08 +6 146720826 . GGAA G . . START=146720827;STOP=146720829;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=453266;RCV=RCV000030784;SCV=SCV000053445;ALLELE_ID=45814;SYMBOL=GRM1;HGVS_C=NM_001278064.1:c.2652_2654delGAA;HGVS_P=NP_001264993.1:p.Asn885del;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_25..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spinocerebellar_ataxia..autosomal_recessive_13|SPINOCEREBELLAR_ATAXIA..AUTOSOMAL_RECESSIVE_13;ALL_PMIDS=22901947;ORIGIN=germline;XREFS=MedGen:C3553816|OMIM:614831|Orphanet:324262;DATES_ORDERED=2012-09-07 +6 146720837 . T C . . START=146720837;STOP=146720837;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=453266;RCV=RCV000030784;SCV=SCV000053445;ALLELE_ID=434131;SYMBOL=GRM1;HGVS_C=NM_001278064.1:c.2660+2T>C;MOLECULAR_CONSEQUENCE=NM_001278064.1:c.2660+2T>C:splice_donor_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_25..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spinocerebellar_ataxia..autosomal_recessive_13|SPINOCEREBELLAR_ATAXIA..AUTOSOMAL_RECESSIVE_13;ALL_PMIDS=22901947;ORIGIN=germline;XREFS=MedGen:C3553816|OMIM:614831|Orphanet:324262;DATES_ORDERED=2012-09-07 6 152697578 . C T . . START=152697578;STOP=152697578;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=92124;RCV=RCV000077790;SCV=SCV000109616;ALLELE_ID=97550;SYMBOL=SYNE1;HGVS_C=NM_033071.3:c.9283G>A;HGVS_P=NP_149062.1:p.Ala3095Thr;MOLECULAR_CONSEQUENCE=NM_182961.3:c.9262G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_01..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Intellectual_functioning_disability|VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=21956720|24123876;ORIGIN=germline;XREFS=MedGen:C0025362|SNOMED_CT:228156007|SNOMED_CT:91138005;DATES_ORDERED=2013-12-01 -6 152784621 . T C . . START=152784621;STOP=152784621;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=92124;RCV=RCV000077790;SCV=SCV000109616;ALLELE_ID=97551;SYMBOL=SYNE1;HGVS_C=NM_033071.3:c.1985A>G;HGVS_P=NP_149062.1:p.Gln662Arg;MOLECULAR_CONSEQUENCE=NM_182961.3:c.1964A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_07..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Intellectual_functioning_disability|VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=21956720|24123876;ORIGIN=germline;XREFS=MedGen:C0025362|SNOMED_CT:228156007|SNOMED_CT:91138005;DATES_ORDERED=2013-12-01 +6 152784621 . T C . . START=152784621;STOP=152784621;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=92124;RCV=RCV000077790;SCV=SCV000109616;ALLELE_ID=97551;SYMBOL=SYNE1;HGVS_C=NM_033071.3:c.1985A>G;HGVS_P=NP_149062.1:p.Gln662Arg;MOLECULAR_CONSEQUENCE=NM_182961.3:c.1964A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_07..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Intellectual_functioning_disability|VARIANT_OF_UNKNOWN_SIGNIFICANCE;ALL_PMIDS=21956720|24123876;ORIGIN=germline;XREFS=MedGen:C0025362|SNOMED_CT:228156007|SNOMED_CT:91138005;DATES_ORDERED=2013-12-01 7 87072999 . G C . . START=87072999;STOP=87072999;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=217883;RCV=RCV000201938;SCV=SCV000256879;ALLELE_ID=214536;SYMBOL=ABCB4;HGVS_C=NM_018849.2:c.1210C>G;HGVS_P=NP_061337.1:p.Pro404Ala;MOLECULAR_CONSEQUENCE=NM_018849.2:c.1210C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_25..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Progressive_familial_intrahepatic_cholestasis_3;ALL_PMIDS=17726488|9419367;ORIGIN=germline;XREFS=Genetic_Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351|Genetics_Home_Reference:progressive-familial-intrahepatic-cholestasis|MedGen:C1865643|OMIM:602347|Office_of_Rare_Diseases:1289|Orphanet:79305;DATES_ORDERED=2014-07-25 7 87082365 . C T . . START=87082365;STOP=87082365;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=217883;RCV=RCV000201938;SCV=SCV000256879;ALLELE_ID=214537;SYMBOL=ABCB4;HGVS_C=NM_018849.2:c.431G>A;HGVS_P=NP_061337.1:p.Arg144Gln;MOLECULAR_CONSEQUENCE=NM_018849.2:c.431G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_25..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Progressive_familial_intrahepatic_cholestasis_3;ALL_PMIDS=17726488|9419367;ORIGIN=germline;XREFS=Genetic_Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351|Genetics_Home_Reference:progressive-familial-intrahepatic-cholestasis|MedGen:C1865643|OMIM:602347|Office_of_Rare_Diseases:1289|Orphanet:79305;DATES_ORDERED=2014-07-25 -7 107336408 . A C . . START=107336408;STOP=107336408;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=4816;RCV=RCV000005085;SCV=SCV000025261;ALLELE_ID=38434;SYMBOL=SLC26A4;HGVS_C=NM_000441.1:c.1468A>C;HGVS_P=NP_000432.1:p.Ile490Leu;MOLECULAR_CONSEQUENCE=NM_000441.1:c.1468A>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Enlarged_vestibular_aqueduct_syndrome|DEAFNESS..AUTOSOMAL_RECESSIVE_4..WITH_ENLARGED_VESTIBULAR_AQUEDUCT;ALL_PMIDS=18310264|20301607|20301640|9500541;ORIGIN=germline;XREFS=GeneReviews:NBK1467|Genetic_Alliance:Enlarged+Vestibular+Aqueduct+Syndrome/2542|Genetic_Testing_Registry_(GTR):GTR000500213|MedGen:C1863752|OMIM:600791|OMIM:601093.0001|OMIM:601093.0002|OMIM:602208.0008|OMIM:602208.0009|OMIM:605646.0004|OMIM:605646.0009|OMIM:605646.0010|OMIM:605646.0011|OMIM:605646.0012|OMIM:605646.0013|OMIM:605646.0014|OMIM:605646.0015|OMIM:605646.0027|OMIM:605646.0028|OMIM:605646.0029|OMIM:605646.0030|OMIM:605646.0031|Office_of_Rare_Diseases:8651|Orphanet:90636;DATES_ORDERED=2008-07-01 +7 107336408 . A C . . START=107336408;STOP=107336408;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=4816;RCV=RCV000005085;SCV=SCV000025261;ALLELE_ID=38434;SYMBOL=SLC26A4;HGVS_C=NM_000441.1:c.1468A>C;HGVS_P=NP_000432.1:p.Ile490Leu;MOLECULAR_CONSEQUENCE=NM_000441.1:c.1468A>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Enlarged_vestibular_aqueduct_syndrome|DEAFNESS..AUTOSOMAL_RECESSIVE_4..WITH_ENLARGED_VESTIBULAR_AQUEDUCT;ALL_PMIDS=18310264|20301607|20301640|9500541;ORIGIN=germline;XREFS=GeneReviews:NBK1467|Genetic_Alliance:Enlarged+Vestibular+Aqueduct+Syndrome/2542|Genetic_Testing_Registry_(GTR):GTR000500213|MedGen:C1863752|OMIM:600791|OMIM:601093.0001|OMIM:601093.0002|OMIM:602208.0008|OMIM:602208.0009|OMIM:605646.0004|OMIM:605646.0009|OMIM:605646.0010|OMIM:605646.0011|OMIM:605646.0012|OMIM:605646.0013|OMIM:605646.0014|OMIM:605646.0015|OMIM:605646.0027|OMIM:605646.0028|OMIM:605646.0029|OMIM:605646.0030|OMIM:605646.0031|Office_of_Rare_Diseases:8651|Orphanet:90636;DATES_ORDERED=2008-07-01 7 107336429 . G A . . START=107336429;STOP=107336429;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=4816;RCV=RCV000005085;SCV=SCV000025261;ALLELE_ID=19855;SYMBOL=SLC26A4;HGVS_C=NM_000441.1:c.1489G>A;HGVS_P=NP_000432.1:p.Gly497Ser;MOLECULAR_CONSEQUENCE=NM_000441.1:c.1489G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Enlarged_vestibular_aqueduct_syndrome|DEAFNESS..AUTOSOMAL_RECESSIVE_4..WITH_ENLARGED_VESTIBULAR_AQUEDUCT;ALL_PMIDS=18310264|20301607|20301640|9500541;ORIGIN=germline;XREFS=GeneReviews:NBK1467|Genetic_Alliance:Enlarged+Vestibular+Aqueduct+Syndrome/2542|Genetic_Testing_Registry_(GTR):GTR000500213|MedGen:C1863752|OMIM:600791|OMIM:601093.0001|OMIM:601093.0002|OMIM:602208.0008|OMIM:602208.0009|OMIM:605646.0004|OMIM:605646.0009|OMIM:605646.0010|OMIM:605646.0011|OMIM:605646.0012|OMIM:605646.0013|OMIM:605646.0014|OMIM:605646.0015|OMIM:605646.0027|OMIM:605646.0028|OMIM:605646.0029|OMIM:605646.0030|OMIM:605646.0031|Office_of_Rare_Diseases:8651|Orphanet:90636;DATES_ORDERED=2008-07-01 -7 117171029 . G A . . START=117171029;STOP=117171029;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=209047;RCV=RCV000190992;SCV=SCV000245925;ALLELE_ID=22148;SYMBOL=CFTR;HGVS_C=NM_000492.3:c.350G>A;HGVS_P=NP_000483.3:p.Arg117His;MOLECULAR_CONSEQUENCE=NM_000492.3:c.350G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=practice_guideline;REVIEW_STATUS_ORDERED=reviewed_by_expert_panel;LAST_EVALUATED=May_22..2017;ALL_SUBMITTERS=CFTR2;SUBMITTERS_ORDERED=CFTR2;ALL_TRAITS=Cystic_fibrosis|Cystic_fibrosis;ALL_PMIDS=11280952|12394352|15789152|17761616|19888064|19914443|19914445|20301428|20605539|20675678|21422883|21938795|22475884|23974870|24014130|25431289|25981758;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1250|Genetic_Alliance:Cystic+Fibrosis/2071|Genetic_Testing_Registry_(GTR):GTR000004176|Genetic_Testing_Registry_(GTR):GTR000005248|Genetic_Testing_Registry_(GTR):GTR000025280|Genetic_Testing_Registry_(GTR):GTR000028916|Genetic_Testing_Registry_(GTR):GTR000074114|Genetic_Testing_Registry_(GTR):GTR000194834|Genetic_Testing_Registry_(GTR):GTR000209428|Genetic_Testing_Registry_(GTR):GTR000226639|Genetic_Testing_Registry_(GTR):GTR000277984|Genetic_Testing_Registry_(GTR):GTR000288561|Genetic_Testing_Registry_(GTR):GTR000320929|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000501120|Genetic_Testing_Registry_(GTR):GTR000501211|Genetic_Testing_Registry_(GTR):GTR000501918|Genetic_Testing_Registry_(GTR):GTR000501920|Genetic_Testing_Registry_(GTR):GTR000501921|Genetic_Testing_Registry_(GTR):GTR000502992|Genetic_Testing_Registry_(GTR):GTR000505699|Genetic_Testing_Registry_(GTR):GTR000506511|Genetic_Testing_Registry_(GTR):GTR000507003|Genetic_Testing_Registry_(GTR):GTR000507006|Genetic_Testing_Registry_(GTR):GTR000507010|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507950|Genetic_Testing_Registry_(GTR):GTR000508782|Genetic_Testing_Registry_(GTR):GTR000508810|Genetic_Testing_Registry_(GTR):GTR000508811|Genetic_Testing_Registry_(GTR):GTR000508812|Genetic_Testing_Registry_(GTR):GTR000508889|Genetic_Testing_Registry_(GTR):GTR000508890|Genetic_Testing_Registry_(GTR):GTR000508893|Genetic_Testing_Registry_(GTR):GTR000508894|Genetic_Testing_Registry_(GTR):GTR000514611|Genetic_Testing_Registry_(GTR):GTR000515757|Genetic_Testing_Registry_(GTR):GTR000515758|Genetic_Testing_Registry_(GTR):GTR000520059|Genetic_Testing_Registry_(GTR):GTR000521501|Genetic_Testing_Registry_(GTR):GTR000521905|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528606|Genetic_Testing_Registry_(GTR):GTR000529460|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000553017|Genetic_Testing_Registry_(GTR):GTR000556535|Genetic_Testing_Registry_(GTR):GTR000556536|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008;DATES_ORDERED=0000-00-00 -7 117180359 . C A . . START=117180359;STOP=117180359;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=40200;RCV=RCV000007589;SCV=SCV000027790;ALLELE_ID=22208;SYMBOL=CFTR;HGVS_C=NM_000492.3:c.1075C>A;HGVS_P=NP_000483.3:p.Gln359Lys;MOLECULAR_CONSEQUENCE=NM_000492.3:c.1075C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cystic_fibrosis|CYSTIC_FIBROSIS;ALL_PMIDS=11280952|12394352|15789152|17761616|19888064|19914443|19914445|20301428|20605539|20675678|21422883|21938795|22475884|24014130|25431289|25981758|7679367;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1250|Genetic_Alliance:Cystic+Fibrosis/2071|Genetic_Testing_Registry_(GTR):GTR000004176|Genetic_Testing_Registry_(GTR):GTR000005248|Genetic_Testing_Registry_(GTR):GTR000025280|Genetic_Testing_Registry_(GTR):GTR000028916|Genetic_Testing_Registry_(GTR):GTR000074114|Genetic_Testing_Registry_(GTR):GTR000194834|Genetic_Testing_Registry_(GTR):GTR000209428|Genetic_Testing_Registry_(GTR):GTR000226639|Genetic_Testing_Registry_(GTR):GTR000277984|Genetic_Testing_Registry_(GTR):GTR000288561|Genetic_Testing_Registry_(GTR):GTR000320929|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000501120|Genetic_Testing_Registry_(GTR):GTR000501211|Genetic_Testing_Registry_(GTR):GTR000501918|Genetic_Testing_Registry_(GTR):GTR000501920|Genetic_Testing_Registry_(GTR):GTR000501921|Genetic_Testing_Registry_(GTR):GTR000502992|Genetic_Testing_Registry_(GTR):GTR000505699|Genetic_Testing_Registry_(GTR):GTR000506511|Genetic_Testing_Registry_(GTR):GTR000507003|Genetic_Testing_Registry_(GTR):GTR000507006|Genetic_Testing_Registry_(GTR):GTR000507010|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507950|Genetic_Testing_Registry_(GTR):GTR000508782|Genetic_Testing_Registry_(GTR):GTR000508810|Genetic_Testing_Registry_(GTR):GTR000508811|Genetic_Testing_Registry_(GTR):GTR000508812|Genetic_Testing_Registry_(GTR):GTR000508889|Genetic_Testing_Registry_(GTR):GTR000508890|Genetic_Testing_Registry_(GTR):GTR000508893|Genetic_Testing_Registry_(GTR):GTR000508894|Genetic_Testing_Registry_(GTR):GTR000514611|Genetic_Testing_Registry_(GTR):GTR000515757|Genetic_Testing_Registry_(GTR):GTR000515758|Genetic_Testing_Registry_(GTR):GTR000520059|Genetic_Testing_Registry_(GTR):GTR000521501|Genetic_Testing_Registry_(GTR):GTR000521905|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528606|Genetic_Testing_Registry_(GTR):GTR000529460|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000553017|Genetic_Testing_Registry_(GTR):GTR000556535|Genetic_Testing_Registry_(GTR):GTR000556536|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008;DATES_ORDERED=1993-01-01 -7 117180363 . C A . . START=117180363;STOP=117180363;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=40200;RCV=RCV000007589;SCV=SCV000027790;ALLELE_ID=38441;SYMBOL=CFTR;HGVS_C=NM_000492.3:c.1079C>A;HGVS_P=NP_000483.3:p.Thr360Lys;MOLECULAR_CONSEQUENCE=NM_000492.3:c.1079C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cystic_fibrosis|CYSTIC_FIBROSIS;ALL_PMIDS=11280952|12394352|15789152|17761616|19888064|19914443|19914445|20301428|20605539|20675678|21422883|21938795|22475884|24014130|25431289|25981758|7679367;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1250|Genetic_Alliance:Cystic+Fibrosis/2071|Genetic_Testing_Registry_(GTR):GTR000004176|Genetic_Testing_Registry_(GTR):GTR000005248|Genetic_Testing_Registry_(GTR):GTR000025280|Genetic_Testing_Registry_(GTR):GTR000028916|Genetic_Testing_Registry_(GTR):GTR000074114|Genetic_Testing_Registry_(GTR):GTR000194834|Genetic_Testing_Registry_(GTR):GTR000209428|Genetic_Testing_Registry_(GTR):GTR000226639|Genetic_Testing_Registry_(GTR):GTR000277984|Genetic_Testing_Registry_(GTR):GTR000288561|Genetic_Testing_Registry_(GTR):GTR000320929|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000501120|Genetic_Testing_Registry_(GTR):GTR000501211|Genetic_Testing_Registry_(GTR):GTR000501918|Genetic_Testing_Registry_(GTR):GTR000501920|Genetic_Testing_Registry_(GTR):GTR000501921|Genetic_Testing_Registry_(GTR):GTR000502992|Genetic_Testing_Registry_(GTR):GTR000505699|Genetic_Testing_Registry_(GTR):GTR000506511|Genetic_Testing_Registry_(GTR):GTR000507003|Genetic_Testing_Registry_(GTR):GTR000507006|Genetic_Testing_Registry_(GTR):GTR000507010|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507950|Genetic_Testing_Registry_(GTR):GTR000508782|Genetic_Testing_Registry_(GTR):GTR000508810|Genetic_Testing_Registry_(GTR):GTR000508811|Genetic_Testing_Registry_(GTR):GTR000508812|Genetic_Testing_Registry_(GTR):GTR000508889|Genetic_Testing_Registry_(GTR):GTR000508890|Genetic_Testing_Registry_(GTR):GTR000508893|Genetic_Testing_Registry_(GTR):GTR000508894|Genetic_Testing_Registry_(GTR):GTR000514611|Genetic_Testing_Registry_(GTR):GTR000515757|Genetic_Testing_Registry_(GTR):GTR000515758|Genetic_Testing_Registry_(GTR):GTR000520059|Genetic_Testing_Registry_(GTR):GTR000521501|Genetic_Testing_Registry_(GTR):GTR000521905|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528606|Genetic_Testing_Registry_(GTR):GTR000529460|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000553017|Genetic_Testing_Registry_(GTR):GTR000556535|Genetic_Testing_Registry_(GTR):GTR000556536|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008;DATES_ORDERED=1993-01-01 -7 117243663 . C T . . START=117243663;STOP=117243663;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7239;RCV=RCV000007661;SCV=SCV000027862;ALLELE_ID=22244;SYMBOL=CFTR;HGVS_C=NM_000492.3:c.2735C>T;HGVS_P=NP_000483.3:p.Ser912Leu;MOLECULAR_CONSEQUENCE=NM_000492.3:c.2735C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cystic_fibrosis|CYSTIC_FIBROSIS;ALL_PMIDS=11280952|12394352|15744523|15789152|17761616|19888064|19914443|19914445|20301428|20605539|20675678|21422883|21938795|22475884|24014130|25431289|25981758|8528204;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1250|Genetic_Alliance:Cystic+Fibrosis/2071|Genetic_Testing_Registry_(GTR):GTR000004176|Genetic_Testing_Registry_(GTR):GTR000005248|Genetic_Testing_Registry_(GTR):GTR000025280|Genetic_Testing_Registry_(GTR):GTR000028916|Genetic_Testing_Registry_(GTR):GTR000074114|Genetic_Testing_Registry_(GTR):GTR000194834|Genetic_Testing_Registry_(GTR):GTR000209428|Genetic_Testing_Registry_(GTR):GTR000226639|Genetic_Testing_Registry_(GTR):GTR000277984|Genetic_Testing_Registry_(GTR):GTR000288561|Genetic_Testing_Registry_(GTR):GTR000320929|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000501120|Genetic_Testing_Registry_(GTR):GTR000501211|Genetic_Testing_Registry_(GTR):GTR000501918|Genetic_Testing_Registry_(GTR):GTR000501920|Genetic_Testing_Registry_(GTR):GTR000501921|Genetic_Testing_Registry_(GTR):GTR000502992|Genetic_Testing_Registry_(GTR):GTR000505699|Genetic_Testing_Registry_(GTR):GTR000506511|Genetic_Testing_Registry_(GTR):GTR000507003|Genetic_Testing_Registry_(GTR):GTR000507006|Genetic_Testing_Registry_(GTR):GTR000507010|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507950|Genetic_Testing_Registry_(GTR):GTR000508782|Genetic_Testing_Registry_(GTR):GTR000508810|Genetic_Testing_Registry_(GTR):GTR000508811|Genetic_Testing_Registry_(GTR):GTR000508812|Genetic_Testing_Registry_(GTR):GTR000508889|Genetic_Testing_Registry_(GTR):GTR000508890|Genetic_Testing_Registry_(GTR):GTR000508893|Genetic_Testing_Registry_(GTR):GTR000508894|Genetic_Testing_Registry_(GTR):GTR000514611|Genetic_Testing_Registry_(GTR):GTR000515757|Genetic_Testing_Registry_(GTR):GTR000515758|Genetic_Testing_Registry_(GTR):GTR000520059|Genetic_Testing_Registry_(GTR):GTR000521501|Genetic_Testing_Registry_(GTR):GTR000521905|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528606|Genetic_Testing_Registry_(GTR):GTR000529460|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000553017|Genetic_Testing_Registry_(GTR):GTR000556535|Genetic_Testing_Registry_(GTR):GTR000556536|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008;DATES_ORDERED=2005-05-01 -7 117282505 . G T . . START=117282505;STOP=117282505;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7239;RCV=RCV000007661;SCV=SCV000027862;ALLELE_ID=22278;SYMBOL=CFTR;HGVS_C=NM_000492.3:c.3731G>T;HGVS_P=NP_000483.3:p.Gly1244Val;MOLECULAR_CONSEQUENCE=NM_000492.3:c.3731G>T:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cystic_fibrosis|CYSTIC_FIBROSIS;ALL_PMIDS=11280952|12394352|15744523|15789152|17761616|19888064|19914443|19914445|20301428|20605539|20675678|21422883|21938795|22475884|24014130|25431289|25981758|8528204;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1250|Genetic_Alliance:Cystic+Fibrosis/2071|Genetic_Testing_Registry_(GTR):GTR000004176|Genetic_Testing_Registry_(GTR):GTR000005248|Genetic_Testing_Registry_(GTR):GTR000025280|Genetic_Testing_Registry_(GTR):GTR000028916|Genetic_Testing_Registry_(GTR):GTR000074114|Genetic_Testing_Registry_(GTR):GTR000194834|Genetic_Testing_Registry_(GTR):GTR000209428|Genetic_Testing_Registry_(GTR):GTR000226639|Genetic_Testing_Registry_(GTR):GTR000277984|Genetic_Testing_Registry_(GTR):GTR000288561|Genetic_Testing_Registry_(GTR):GTR000320929|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000501120|Genetic_Testing_Registry_(GTR):GTR000501211|Genetic_Testing_Registry_(GTR):GTR000501918|Genetic_Testing_Registry_(GTR):GTR000501920|Genetic_Testing_Registry_(GTR):GTR000501921|Genetic_Testing_Registry_(GTR):GTR000502992|Genetic_Testing_Registry_(GTR):GTR000505699|Genetic_Testing_Registry_(GTR):GTR000506511|Genetic_Testing_Registry_(GTR):GTR000507003|Genetic_Testing_Registry_(GTR):GTR000507006|Genetic_Testing_Registry_(GTR):GTR000507010|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507950|Genetic_Testing_Registry_(GTR):GTR000508782|Genetic_Testing_Registry_(GTR):GTR000508810|Genetic_Testing_Registry_(GTR):GTR000508811|Genetic_Testing_Registry_(GTR):GTR000508812|Genetic_Testing_Registry_(GTR):GTR000508889|Genetic_Testing_Registry_(GTR):GTR000508890|Genetic_Testing_Registry_(GTR):GTR000508893|Genetic_Testing_Registry_(GTR):GTR000508894|Genetic_Testing_Registry_(GTR):GTR000514611|Genetic_Testing_Registry_(GTR):GTR000515757|Genetic_Testing_Registry_(GTR):GTR000515758|Genetic_Testing_Registry_(GTR):GTR000520059|Genetic_Testing_Registry_(GTR):GTR000521501|Genetic_Testing_Registry_(GTR):GTR000521905|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528606|Genetic_Testing_Registry_(GTR):GTR000529460|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000553017|Genetic_Testing_Registry_(GTR):GTR000556535|Genetic_Testing_Registry_(GTR):GTR000556536|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008;DATES_ORDERED=2005-05-01 +7 117171029 . G A . . START=117171029;STOP=117171029;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=209047;RCV=RCV000190992;SCV=SCV000245925;ALLELE_ID=22148;SYMBOL=CFTR;HGVS_C=NM_000492.3:c.350G>A;HGVS_P=NP_000483.3:p.Arg117His;MOLECULAR_CONSEQUENCE=NM_000492.3:c.350G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=practice_guideline;REVIEW_STATUS_ORDERED=reviewed_by_expert_panel;LAST_EVALUATED=Oct_31..2017;ALL_SUBMITTERS=CFTR2;SUBMITTERS_ORDERED=CFTR2;ALL_TRAITS=Cystic_fibrosis|Cystic_fibrosis;ALL_PMIDS=11280952|12394352|15789152|17761616|19888064|19914443|19914445|20301428|20605539|20675678|21422883|21938795|22475884|23974870|24014130|25431289|25981758;DISEASE_MECHANISM=More_than_1..000_CFTR_variants_have_been_reported.__Most_common_pathogenic_variant_is_p.Phe508del.|loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1250|Genetic_Alliance:Cystic+Fibrosis/2071|Genetic_Testing_Registry_(GTR):GTR000004176|Genetic_Testing_Registry_(GTR):GTR000005248|Genetic_Testing_Registry_(GTR):GTR000025280|Genetic_Testing_Registry_(GTR):GTR000028916|Genetic_Testing_Registry_(GTR):GTR000074114|Genetic_Testing_Registry_(GTR):GTR000194834|Genetic_Testing_Registry_(GTR):GTR000209428|Genetic_Testing_Registry_(GTR):GTR000226639|Genetic_Testing_Registry_(GTR):GTR000277984|Genetic_Testing_Registry_(GTR):GTR000288561|Genetic_Testing_Registry_(GTR):GTR000320929|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000501120|Genetic_Testing_Registry_(GTR):GTR000501211|Genetic_Testing_Registry_(GTR):GTR000501918|Genetic_Testing_Registry_(GTR):GTR000501920|Genetic_Testing_Registry_(GTR):GTR000501921|Genetic_Testing_Registry_(GTR):GTR000502992|Genetic_Testing_Registry_(GTR):GTR000505699|Genetic_Testing_Registry_(GTR):GTR000506511|Genetic_Testing_Registry_(GTR):GTR000507003|Genetic_Testing_Registry_(GTR):GTR000507006|Genetic_Testing_Registry_(GTR):GTR000507010|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507950|Genetic_Testing_Registry_(GTR):GTR000508782|Genetic_Testing_Registry_(GTR):GTR000508810|Genetic_Testing_Registry_(GTR):GTR000508811|Genetic_Testing_Registry_(GTR):GTR000508812|Genetic_Testing_Registry_(GTR):GTR000508889|Genetic_Testing_Registry_(GTR):GTR000508890|Genetic_Testing_Registry_(GTR):GTR000508893|Genetic_Testing_Registry_(GTR):GTR000508894|Genetic_Testing_Registry_(GTR):GTR000514611|Genetic_Testing_Registry_(GTR):GTR000515757|Genetic_Testing_Registry_(GTR):GTR000515758|Genetic_Testing_Registry_(GTR):GTR000520059|Genetic_Testing_Registry_(GTR):GTR000521501|Genetic_Testing_Registry_(GTR):GTR000521905|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528606|Genetic_Testing_Registry_(GTR):GTR000529460|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000553017|Genetic_Testing_Registry_(GTR):GTR000556535|Genetic_Testing_Registry_(GTR):GTR000556536|Genetic_Testing_Registry_(GTR):GTR000558875|Genetic_Testing_Registry_(GTR):GTR000558928|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008;DATES_ORDERED=0000-00-00 +7 117180359 . C A . . START=117180359;STOP=117180359;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=40200;RCV=RCV000007589;SCV=SCV000027790;ALLELE_ID=22208;SYMBOL=CFTR;HGVS_C=NM_000492.3:c.1075C>A;HGVS_P=NP_000483.3:p.Gln359Lys;MOLECULAR_CONSEQUENCE=NM_000492.3:c.1075C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cystic_fibrosis|CYSTIC_FIBROSIS;ALL_PMIDS=11280952|12394352|15789152|17761616|19888064|19914443|19914445|20301428|20605539|20675678|21422883|21938795|22475884|24014130|25431289|25981758|7679367;DISEASE_MECHANISM=More_than_1..000_CFTR_variants_have_been_reported.__Most_common_pathogenic_variant_is_p.Phe508del.|loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1250|Genetic_Alliance:Cystic+Fibrosis/2071|Genetic_Testing_Registry_(GTR):GTR000004176|Genetic_Testing_Registry_(GTR):GTR000005248|Genetic_Testing_Registry_(GTR):GTR000025280|Genetic_Testing_Registry_(GTR):GTR000028916|Genetic_Testing_Registry_(GTR):GTR000074114|Genetic_Testing_Registry_(GTR):GTR000194834|Genetic_Testing_Registry_(GTR):GTR000209428|Genetic_Testing_Registry_(GTR):GTR000226639|Genetic_Testing_Registry_(GTR):GTR000277984|Genetic_Testing_Registry_(GTR):GTR000288561|Genetic_Testing_Registry_(GTR):GTR000320929|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000501120|Genetic_Testing_Registry_(GTR):GTR000501211|Genetic_Testing_Registry_(GTR):GTR000501918|Genetic_Testing_Registry_(GTR):GTR000501920|Genetic_Testing_Registry_(GTR):GTR000501921|Genetic_Testing_Registry_(GTR):GTR000502992|Genetic_Testing_Registry_(GTR):GTR000505699|Genetic_Testing_Registry_(GTR):GTR000506511|Genetic_Testing_Registry_(GTR):GTR000507003|Genetic_Testing_Registry_(GTR):GTR000507006|Genetic_Testing_Registry_(GTR):GTR000507010|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507950|Genetic_Testing_Registry_(GTR):GTR000508782|Genetic_Testing_Registry_(GTR):GTR000508810|Genetic_Testing_Registry_(GTR):GTR000508811|Genetic_Testing_Registry_(GTR):GTR000508812|Genetic_Testing_Registry_(GTR):GTR000508889|Genetic_Testing_Registry_(GTR):GTR000508890|Genetic_Testing_Registry_(GTR):GTR000508893|Genetic_Testing_Registry_(GTR):GTR000508894|Genetic_Testing_Registry_(GTR):GTR000514611|Genetic_Testing_Registry_(GTR):GTR000515757|Genetic_Testing_Registry_(GTR):GTR000515758|Genetic_Testing_Registry_(GTR):GTR000520059|Genetic_Testing_Registry_(GTR):GTR000521501|Genetic_Testing_Registry_(GTR):GTR000521905|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528606|Genetic_Testing_Registry_(GTR):GTR000529460|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000553017|Genetic_Testing_Registry_(GTR):GTR000556535|Genetic_Testing_Registry_(GTR):GTR000556536|Genetic_Testing_Registry_(GTR):GTR000558875|Genetic_Testing_Registry_(GTR):GTR000558928|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008;DATES_ORDERED=1993-01-01 +7 117180363 . C A . . START=117180363;STOP=117180363;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=40200;RCV=RCV000007589;SCV=SCV000027790;ALLELE_ID=38441;SYMBOL=CFTR;HGVS_C=NM_000492.3:c.1079C>A;HGVS_P=NP_000483.3:p.Thr360Lys;MOLECULAR_CONSEQUENCE=NM_000492.3:c.1079C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cystic_fibrosis|CYSTIC_FIBROSIS;ALL_PMIDS=11280952|12394352|15789152|17761616|19888064|19914443|19914445|20301428|20605539|20675678|21422883|21938795|22475884|24014130|25431289|25981758|7679367;DISEASE_MECHANISM=More_than_1..000_CFTR_variants_have_been_reported.__Most_common_pathogenic_variant_is_p.Phe508del.|loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1250|Genetic_Alliance:Cystic+Fibrosis/2071|Genetic_Testing_Registry_(GTR):GTR000004176|Genetic_Testing_Registry_(GTR):GTR000005248|Genetic_Testing_Registry_(GTR):GTR000025280|Genetic_Testing_Registry_(GTR):GTR000028916|Genetic_Testing_Registry_(GTR):GTR000074114|Genetic_Testing_Registry_(GTR):GTR000194834|Genetic_Testing_Registry_(GTR):GTR000209428|Genetic_Testing_Registry_(GTR):GTR000226639|Genetic_Testing_Registry_(GTR):GTR000277984|Genetic_Testing_Registry_(GTR):GTR000288561|Genetic_Testing_Registry_(GTR):GTR000320929|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000501120|Genetic_Testing_Registry_(GTR):GTR000501211|Genetic_Testing_Registry_(GTR):GTR000501918|Genetic_Testing_Registry_(GTR):GTR000501920|Genetic_Testing_Registry_(GTR):GTR000501921|Genetic_Testing_Registry_(GTR):GTR000502992|Genetic_Testing_Registry_(GTR):GTR000505699|Genetic_Testing_Registry_(GTR):GTR000506511|Genetic_Testing_Registry_(GTR):GTR000507003|Genetic_Testing_Registry_(GTR):GTR000507006|Genetic_Testing_Registry_(GTR):GTR000507010|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507950|Genetic_Testing_Registry_(GTR):GTR000508782|Genetic_Testing_Registry_(GTR):GTR000508810|Genetic_Testing_Registry_(GTR):GTR000508811|Genetic_Testing_Registry_(GTR):GTR000508812|Genetic_Testing_Registry_(GTR):GTR000508889|Genetic_Testing_Registry_(GTR):GTR000508890|Genetic_Testing_Registry_(GTR):GTR000508893|Genetic_Testing_Registry_(GTR):GTR000508894|Genetic_Testing_Registry_(GTR):GTR000514611|Genetic_Testing_Registry_(GTR):GTR000515757|Genetic_Testing_Registry_(GTR):GTR000515758|Genetic_Testing_Registry_(GTR):GTR000520059|Genetic_Testing_Registry_(GTR):GTR000521501|Genetic_Testing_Registry_(GTR):GTR000521905|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528606|Genetic_Testing_Registry_(GTR):GTR000529460|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000553017|Genetic_Testing_Registry_(GTR):GTR000556535|Genetic_Testing_Registry_(GTR):GTR000556536|Genetic_Testing_Registry_(GTR):GTR000558875|Genetic_Testing_Registry_(GTR):GTR000558928|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008;DATES_ORDERED=1993-01-01 +7 117243663 . C T . . START=117243663;STOP=117243663;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7239;RCV=RCV000007661;SCV=SCV000027862;ALLELE_ID=22244;SYMBOL=CFTR;HGVS_C=NM_000492.3:c.2735C>T;HGVS_P=NP_000483.3:p.Ser912Leu;MOLECULAR_CONSEQUENCE=NM_000492.3:c.2735C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_03..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cystic_fibrosis|CYSTIC_FIBROSIS;ALL_PMIDS=11280952|12394352|15744523|15789152|17761616|19888064|19914443|19914445|20301428|20605539|20675678|21422883|21938795|22475884|24014130|25431289|25981758|8528204;DISEASE_MECHANISM=More_than_1..000_CFTR_variants_have_been_reported.__Most_common_pathogenic_variant_is_p.Phe508del.|loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1250|Genetic_Alliance:Cystic+Fibrosis/2071|Genetic_Testing_Registry_(GTR):GTR000004176|Genetic_Testing_Registry_(GTR):GTR000005248|Genetic_Testing_Registry_(GTR):GTR000025280|Genetic_Testing_Registry_(GTR):GTR000028916|Genetic_Testing_Registry_(GTR):GTR000074114|Genetic_Testing_Registry_(GTR):GTR000194834|Genetic_Testing_Registry_(GTR):GTR000209428|Genetic_Testing_Registry_(GTR):GTR000226639|Genetic_Testing_Registry_(GTR):GTR000277984|Genetic_Testing_Registry_(GTR):GTR000288561|Genetic_Testing_Registry_(GTR):GTR000320929|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000501120|Genetic_Testing_Registry_(GTR):GTR000501211|Genetic_Testing_Registry_(GTR):GTR000501918|Genetic_Testing_Registry_(GTR):GTR000501920|Genetic_Testing_Registry_(GTR):GTR000501921|Genetic_Testing_Registry_(GTR):GTR000502992|Genetic_Testing_Registry_(GTR):GTR000505699|Genetic_Testing_Registry_(GTR):GTR000506511|Genetic_Testing_Registry_(GTR):GTR000507003|Genetic_Testing_Registry_(GTR):GTR000507006|Genetic_Testing_Registry_(GTR):GTR000507010|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507950|Genetic_Testing_Registry_(GTR):GTR000508782|Genetic_Testing_Registry_(GTR):GTR000508810|Genetic_Testing_Registry_(GTR):GTR000508811|Genetic_Testing_Registry_(GTR):GTR000508812|Genetic_Testing_Registry_(GTR):GTR000508889|Genetic_Testing_Registry_(GTR):GTR000508890|Genetic_Testing_Registry_(GTR):GTR000508893|Genetic_Testing_Registry_(GTR):GTR000508894|Genetic_Testing_Registry_(GTR):GTR000514611|Genetic_Testing_Registry_(GTR):GTR000515757|Genetic_Testing_Registry_(GTR):GTR000515758|Genetic_Testing_Registry_(GTR):GTR000520059|Genetic_Testing_Registry_(GTR):GTR000521501|Genetic_Testing_Registry_(GTR):GTR000521905|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528606|Genetic_Testing_Registry_(GTR):GTR000529460|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000553017|Genetic_Testing_Registry_(GTR):GTR000556535|Genetic_Testing_Registry_(GTR):GTR000556536|Genetic_Testing_Registry_(GTR):GTR000558875|Genetic_Testing_Registry_(GTR):GTR000558928|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008;DATES_ORDERED=2005-05-01 +7 117282505 . G T . . START=117282505;STOP=117282505;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7239;RCV=RCV000007661;SCV=SCV000027862;ALLELE_ID=22278;SYMBOL=CFTR;HGVS_C=NM_000492.3:c.3731G>T;HGVS_P=NP_000483.3:p.Gly1244Val;MOLECULAR_CONSEQUENCE=NM_000492.3:c.3731G>T:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_01..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cystic_fibrosis|CYSTIC_FIBROSIS;ALL_PMIDS=11280952|12394352|15744523|15789152|17761616|19888064|19914443|19914445|20301428|20605539|20675678|21422883|21938795|22475884|24014130|25431289|25981758|8528204;DISEASE_MECHANISM=More_than_1..000_CFTR_variants_have_been_reported.__Most_common_pathogenic_variant_is_p.Phe508del.|loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1250|Genetic_Alliance:Cystic+Fibrosis/2071|Genetic_Testing_Registry_(GTR):GTR000004176|Genetic_Testing_Registry_(GTR):GTR000005248|Genetic_Testing_Registry_(GTR):GTR000025280|Genetic_Testing_Registry_(GTR):GTR000028916|Genetic_Testing_Registry_(GTR):GTR000074114|Genetic_Testing_Registry_(GTR):GTR000194834|Genetic_Testing_Registry_(GTR):GTR000209428|Genetic_Testing_Registry_(GTR):GTR000226639|Genetic_Testing_Registry_(GTR):GTR000277984|Genetic_Testing_Registry_(GTR):GTR000288561|Genetic_Testing_Registry_(GTR):GTR000320929|Genetic_Testing_Registry_(GTR):GTR000324499|Genetic_Testing_Registry_(GTR):GTR000328569|Genetic_Testing_Registry_(GTR):GTR000330969|Genetic_Testing_Registry_(GTR):GTR000332363|Genetic_Testing_Registry_(GTR):GTR000501120|Genetic_Testing_Registry_(GTR):GTR000501211|Genetic_Testing_Registry_(GTR):GTR000501918|Genetic_Testing_Registry_(GTR):GTR000501920|Genetic_Testing_Registry_(GTR):GTR000501921|Genetic_Testing_Registry_(GTR):GTR000502992|Genetic_Testing_Registry_(GTR):GTR000505699|Genetic_Testing_Registry_(GTR):GTR000506511|Genetic_Testing_Registry_(GTR):GTR000507003|Genetic_Testing_Registry_(GTR):GTR000507006|Genetic_Testing_Registry_(GTR):GTR000507010|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507950|Genetic_Testing_Registry_(GTR):GTR000508782|Genetic_Testing_Registry_(GTR):GTR000508810|Genetic_Testing_Registry_(GTR):GTR000508811|Genetic_Testing_Registry_(GTR):GTR000508812|Genetic_Testing_Registry_(GTR):GTR000508889|Genetic_Testing_Registry_(GTR):GTR000508890|Genetic_Testing_Registry_(GTR):GTR000508893|Genetic_Testing_Registry_(GTR):GTR000508894|Genetic_Testing_Registry_(GTR):GTR000514611|Genetic_Testing_Registry_(GTR):GTR000515757|Genetic_Testing_Registry_(GTR):GTR000515758|Genetic_Testing_Registry_(GTR):GTR000520059|Genetic_Testing_Registry_(GTR):GTR000521501|Genetic_Testing_Registry_(GTR):GTR000521905|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528606|Genetic_Testing_Registry_(GTR):GTR000529460|Genetic_Testing_Registry_(GTR):GTR000530118|Genetic_Testing_Registry_(GTR):GTR000553017|Genetic_Testing_Registry_(GTR):GTR000556535|Genetic_Testing_Registry_(GTR):GTR000556536|Genetic_Testing_Registry_(GTR):GTR000558875|Genetic_Testing_Registry_(GTR):GTR000558928|MedGen:C0010674|OMIM:219700|Office_of_Rare_Diseases:6233|Orphanet:586|SNOMED_CT:190905008;DATES_ORDERED=2005-05-01 8 1719428 . C T . . START=1719428;STOP=1719428;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217887;RCV=RCV000201947;SCV=SCV000256883;ALLELE_ID=214538;SYMBOL=CLN8;HGVS_C=NM_018941.3:c.208C>T;HGVS_P=NP_061764.2:p.Arg70Cys;MOLECULAR_CONSEQUENCE=NM_018941.3:c.208C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_18..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Ceroid_lipofuscinosis_neuronal_8;ALL_PMIDS=16570191|20301601;ORIGIN=germline;XREFS=GeneReviews:NBK1428|MedGen:C1838570|OMIM:600143|Office_of_Rare_Diseases:4010|Orphanet:168491|Orphanet:228354|Orphanet:79264;DATES_ORDERED=2014-08-18 -8 1728664 . C G . . START=1728664;STOP=1728664;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217887;RCV=RCV000201947;SCV=SCV000256883;ALLELE_ID=106601;SYMBOL=CLN8;HGVS_C=NM_018941.3:c.792C>G;HGVS_P=NP_061764.2:p.Asn264Lys;MOLECULAR_CONSEQUENCE=NM_018941.3:c.792C>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_18..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Ceroid_lipofuscinosis_neuronal_8;ALL_PMIDS=16570191|20301601;ORIGIN=germline;XREFS=GeneReviews:NBK1428|MedGen:C1838570|OMIM:600143|Office_of_Rare_Diseases:4010|Orphanet:168491|Orphanet:228354|Orphanet:79264;DATES_ORDERED=2014-08-18 +8 1728664 . C G . . START=1728664;STOP=1728664;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217887;RCV=RCV000201947;SCV=SCV000256883;ALLELE_ID=106601;SYMBOL=CLN8;HGVS_C=NM_018941.3:c.792C>G;HGVS_P=NP_061764.2:p.Asn264Lys;MOLECULAR_CONSEQUENCE=NM_018941.3:c.792C>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_18..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Ceroid_lipofuscinosis_neuronal_8;ALL_PMIDS=16570191|20301601;ORIGIN=germline;XREFS=GeneReviews:NBK1428|MedGen:C1838570|OMIM:600143|Office_of_Rare_Diseases:4010|Orphanet:168491|Orphanet:228354|Orphanet:79264;DATES_ORDERED=2014-08-18 8 30922450 . A T . . START=30922450;STOP=30922450;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=5453;RCV=RCV000005786;SCV=SCV000025968;ALLELE_ID=20492;SYMBOL=WRN;HGVS_C=NM_000553.5:c.375A>T;HGVS_P=NP_000544.2:p.Lys125Asn;MOLECULAR_CONSEQUENCE=NM_000553.5:c.375A>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Werner_syndrome|WERNER_SYNDROME;ALL_PMIDS=16673358|20301687|22258520;ORIGIN=germline;XREFS=GeneReviews:NBK1514|Genetic_Alliance:Werner%27s+syndrome/7471|Genetics_Home_Reference:werner-syndrome|MedGen:C0043119|OMIM:277700|Office_of_Rare_Diseases:7885|Orphanet:902|SNOMED_CT:51626007;DATES_ORDERED=2006-06-01 8 30922478 . A G . . START=30922478;STOP=30922478;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=5453;RCV=RCV000005786;SCV=SCV000025968;ALLELE_ID=38386;SYMBOL=WRN;HGVS_C=NM_000553.5:c.403A>G;HGVS_P=NP_000544.2:p.Lys135Glu;MOLECULAR_CONSEQUENCE=NM_000553.5:c.403A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Werner_syndrome|WERNER_SYNDROME;ALL_PMIDS=16673358|20301687|22258520;ORIGIN=germline;XREFS=GeneReviews:NBK1514|Genetic_Alliance:Werner%27s+syndrome/7471|Genetics_Home_Reference:werner-syndrome|MedGen:C0043119|OMIM:277700|Office_of_Rare_Diseases:7885|Orphanet:902|SNOMED_CT:51626007;DATES_ORDERED=2006-06-01 8 38271684 . G C . . START=38271684;STOP=38271684;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=16292;RCV=RCV000030930;SCV=SCV000037962;ALLELE_ID=38475;SYMBOL=FGFR1;HGVS_C=NM_023110.2:c.2172C>G;HGVS_P=NP_075598.2:p.Asn724Lys;MOLECULAR_CONSEQUENCE=NM_023110.2:c.2172C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_18..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Kallmann_syndrome_2|HYPOGONADOTROPIC_HYPOGONADISM_2_WITHOUT_ANOSMIA..SUSCEPTIBILITY_TO;ALL_PMIDS=16606836|20301509;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Endocrinology_Clinic..Seth_G.S._Medical_College:FGFR1sn_4|GeneReviews:NBK1334|Genetic_Alliance:Kallmann+syndrome+2/3947|Genetic_Testing_Registry_(GTR):GTR000508944|Genetic_Testing_Registry_(GTR):GTR000511562|Genetic_Testing_Registry_(GTR):GTR000511608|Genetic_Testing_Registry_(GTR):GTR000511609|Genetic_Testing_Registry_(GTR):GTR000511610|Genetic_Testing_Registry_(GTR):GTR000511611|Genetic_Testing_Registry_(GTR):GTR000511612|Genetic_Testing_Registry_(GTR):GTR000511613|Genetic_Testing_Registry_(GTR):GTR000512869|Genetic_Testing_Registry_(GTR):GTR000556729|Genetic_Testing_Registry_(GTR):GTR000556731|Genetic_Testing_Registry_(GTR):GTR000558347|MedGen:C1563720|OMIM:136350.0004|OMIM:136350.0013|OMIM:136350.0014|OMIM:136350.0015|OMIM:136350.0016|OMIM:136350.0020|OMIM:136350.0023|OMIM:136350.0024|OMIM:136350.0025|OMIM:147950|Office_of_Rare_Diseases:3070|Orphanet:478;DATES_ORDERED=2006-04-18 8 38271691 . G T . . START=38271691;STOP=38271691;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=16292;RCV=RCV000030930;SCV=SCV000037962;ALLELE_ID=31331;SYMBOL=FGFR1;HGVS_C=NM_023110.2:c.2165C>A;HGVS_P=NP_075598.2:p.Pro722His;MOLECULAR_CONSEQUENCE=NM_023110.2:c.2165C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_18..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Kallmann_syndrome_2|HYPOGONADOTROPIC_HYPOGONADISM_2_WITHOUT_ANOSMIA..SUSCEPTIBILITY_TO;ALL_PMIDS=16606836|20301509;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Endocrinology_Clinic..Seth_G.S._Medical_College:FGFR1sn_4|GeneReviews:NBK1334|Genetic_Alliance:Kallmann+syndrome+2/3947|Genetic_Testing_Registry_(GTR):GTR000508944|Genetic_Testing_Registry_(GTR):GTR000511562|Genetic_Testing_Registry_(GTR):GTR000511608|Genetic_Testing_Registry_(GTR):GTR000511609|Genetic_Testing_Registry_(GTR):GTR000511610|Genetic_Testing_Registry_(GTR):GTR000511611|Genetic_Testing_Registry_(GTR):GTR000511612|Genetic_Testing_Registry_(GTR):GTR000511613|Genetic_Testing_Registry_(GTR):GTR000512869|Genetic_Testing_Registry_(GTR):GTR000556729|Genetic_Testing_Registry_(GTR):GTR000556731|Genetic_Testing_Registry_(GTR):GTR000558347|MedGen:C1563720|OMIM:136350.0004|OMIM:136350.0013|OMIM:136350.0014|OMIM:136350.0015|OMIM:136350.0016|OMIM:136350.0020|OMIM:136350.0023|OMIM:136350.0024|OMIM:136350.0025|OMIM:147950|Office_of_Rare_Diseases:3070|Orphanet:478;DATES_ORDERED=2006-04-18 -8 143994266 . A G . . START=143994266;STOP=143994266;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=16876|16877;RCV=RCV000018372|RCV000018373;SCV=SCV000038654|SCV000038655;ALLELE_ID=31916;SYMBOL=CYP11B2;HGVS_C=NM_000498.3:c.1157T>C;HGVS_P=NP_000489.3:p.Val386Ala;MOLECULAR_CONSEQUENCE=NM_000498.3:c.1157T>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Corticosterone_methyloxidase_type_2_deficiency|CORTICOSTERONE_METHYLOXIDASE_TYPE_II_DEFICIENCY|Corticosterone_methyloxidase_type_1_deficiency|CORTICOSTERONE_METHYLOXIDASE_TYPE_I_DEFICIENCY;ALL_PMIDS=1346492|1594605|3262827|4121586|830445|838841|9814506;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Corticosterone+methyloxidase+type+2+deficiency/8102|Genetic_Testing_Registry_(GTR):GTR000500407|Genetics_Home_Reference:corticosterone-methyloxidase-deficiency|MedGen:C3463917|OMIM:610600|Orphanet:427|Genetic_Alliance:Corticosterone+methyloxidase+type+1+deficiency/8101|Genetic_Testing_Registry_(GTR):GTR000507687|MedGen:CN074214|OMIM:203400|Office_of_Rare_Diseases:5660;DATES_ORDERED=1992-06-01|1998-11-01 +8 143994266 . A G . . START=143994266;STOP=143994266;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=16876|16877;RCV=RCV000018372|RCV000018373;SCV=SCV000038654|SCV000038655;ALLELE_ID=31916;SYMBOL=CYP11B2;HGVS_C=NM_000498.3:c.1157T>C;HGVS_P=NP_000489.3:p.Val386Ala;MOLECULAR_CONSEQUENCE=NM_000498.3:c.1157T>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Corticosterone_methyloxidase_type_2_deficiency|CORTICOSTERONE_METHYLOXIDASE_TYPE_II_DEFICIENCY|Corticosterone_methyloxidase_type_1_deficiency|CORTICOSTERONE_METHYLOXIDASE_TYPE_I_DEFICIENCY;ALL_PMIDS=1346492|1594605|3262827|4121586|830445|838841|9814506;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Corticosterone+methyloxidase+type+2+deficiency/8102|Genetic_Testing_Registry_(GTR):GTR000500407|Genetics_Home_Reference:corticosterone-methyloxidase-deficiency|MedGen:C3463917|OMIM:610600|Orphanet:427|Genetic_Alliance:Corticosterone+methyloxidase+type+1+deficiency/8101|Genetic_Testing_Registry_(GTR):GTR000507687|MedGen:CN074214|OMIM:203400|Office_of_Rare_Diseases:5660;DATES_ORDERED=1992-06-01|1998-11-01 8 143996463 . T G . . START=143996463;STOP=143996463;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=16877;RCV=RCV000018373;SCV=SCV000038655;ALLELE_ID=38484;SYMBOL=CYP11B2;HGVS_C=NM_000498.3:c.594A>C;HGVS_P=NP_000489.3:p.Glu198Asp;MOLECULAR_CONSEQUENCE=NM_000498.3:c.594A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Corticosterone_methyloxidase_type_1_deficiency|CORTICOSTERONE_METHYLOXIDASE_TYPE_I_DEFICIENCY;ALL_PMIDS=9814506;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Corticosterone+methyloxidase+type+1+deficiency/8101|Genetic_Testing_Registry_(GTR):GTR000500407|Genetic_Testing_Registry_(GTR):GTR000507687|Genetics_Home_Reference:corticosterone-methyloxidase-deficiency|MedGen:CN074214|OMIM:203400|Office_of_Rare_Diseases:5660|Orphanet:427;DATES_ORDERED=1998-11-01 8 143996516 . G A . . START=143996516;STOP=143996516;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=16876;RCV=RCV000018372;SCV=SCV000038654;ALLELE_ID=31915;SYMBOL=CYP11B2;HGVS_C=NM_000498.3:c.541C>T;HGVS_P=NP_000489.3:p.Arg181Trp;MOLECULAR_CONSEQUENCE=NM_000498.3:c.541C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..1992;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Corticosterone_methyloxidase_type_2_deficiency|CORTICOSTERONE_METHYLOXIDASE_TYPE_II_DEFICIENCY;ALL_PMIDS=1346492|1594605|3262827|4121586|830445|838841;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=Genetic_Alliance:Corticosterone+methyloxidase+type+2+deficiency/8102|Genetic_Testing_Registry_(GTR):GTR000500407|Genetics_Home_Reference:corticosterone-methyloxidase-deficiency|MedGen:C3463917|OMIM:610600|Orphanet:427;DATES_ORDERED=1992-06-01 9 2115860 . G C . . START=2115860;STOP=2115860;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=374221;RCV=RCV000415335;SCV=SCV000493071;ALLELE_ID=361134;SYMBOL=SMARCA2;HGVS_C=NM_003070.4:c.3495G>C;HGVS_P=NP_003061.3:p.Gln1165His;MOLECULAR_CONSEQUENCE=NM_003070.4:c.3495G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Laboratory_of_Molecular_Genetics..CHU_RENNES;SUBMITTERS_ORDERED=Laboratory_of_Molecular_Genetics..CHU_RENNES;ALL_TRAITS=Nicolaides-Baraitser_syndrome|Nicolaides_Baraitser_syndrome;ALL_PMIDS=26468571;ORIGIN=de_novo;XREFS=GeneReviews:NBK321516|Genetic_Alliance:Nicolaides+Baraitser+syndrome/5221|Genetics_Home_Reference:nicolaides-baraitser-syndrome|MedGen:C1303073|OMIM:601358|Orphanet:3051|SNOMED_CT:401046009;DATES_ORDERED=0000-00-00 9 2123873 . G A . . START=2123873;STOP=2123873;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=374221;RCV=RCV000415335;SCV=SCV000493071;ALLELE_ID=361135;SYMBOL=SMARCA2;HGVS_C=NM_003070.4:c.3917G>A;HGVS_P=NP_003061.3:p.Arg1306Lys;MOLECULAR_CONSEQUENCE=NM_003070.4:c.3917G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Laboratory_of_Molecular_Genetics..CHU_RENNES;SUBMITTERS_ORDERED=Laboratory_of_Molecular_Genetics..CHU_RENNES;ALL_TRAITS=Nicolaides-Baraitser_syndrome|Nicolaides_Baraitser_syndrome;ALL_PMIDS=26468571;ORIGIN=de_novo;XREFS=GeneReviews:NBK321516|Genetic_Alliance:Nicolaides+Baraitser+syndrome/5221|Genetics_Home_Reference:nicolaides-baraitser-syndrome|MedGen:C1303073|OMIM:601358|Orphanet:3051|SNOMED_CT:401046009;DATES_ORDERED=0000-00-00 -9 34646572 . CCAGT C . . START=34646583;STOP=34646586;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=140570;RCV=RCV000128642;SCV=SCV000148002;ALLELE_ID=36445;SYMBOL=GALT;HGVS_C=NM_000155.3:c.-67-52_-67-49delGTCA;MOLECULAR_CONSEQUENCE=NM_000155.3:c.-119_-116del:2KB_upstream_variant|NM_000155.3:c.-67-52_-67-49delGTCA:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_05..2017;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase;ALL_PMIDS=10408771|10424825|10649501|11216901|11286503|11754113|15633893|15841485|16838075|19224951|2011574|20301691|22475884|25473725;ORIGIN=germline;XREFS=GeneReviews:NBK1518|Genetic_Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206|MedGen:C0268151|OMIM:230400|Office_of_Rare_Diseases:2424|Orphanet:352|Orphanet:79239|SNOMED_CT:124354006;DATES_ORDERED=2014-04-03 -9 34648418 . C T . . START=34648418;STOP=34648418;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=3620;RCV=RCV000003804;SCV=SCV000023969;ALLELE_ID=18659;SYMBOL=GALT;HGVS_C=NM_000155.3:c.652C>T;HGVS_P=NP_000146.2:p.Leu218_eq_;MOLECULAR_CONSEQUENCE=NM_000155.3:c.652C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign..other;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=GALT_POLYMORPHISM_(LOS_ANGELES..D1)|GALT_POLYMORPHISM_(LOS_ANGELES..D1);ALL_PMIDS=10408771|10424825|19224951|2011574|4759900|8522334|9012409;ORIGIN=germline;XREFS=OMIM:606999.0012;DATES_ORDERED=2009-05-01 -9 34649442 . A G . . START=34649442;STOP=34649442;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=140570|3620;RCV=RCV000128642|RCV000003804;SCV=SCV000148002|SCV000023969;ALLELE_ID=18652;SYMBOL=GALT;HGVS_C=NM_000155.3:c.940A>G;HGVS_P=NP_000146.2:p.Asn314Asp;MOLECULAR_CONSEQUENCE=NM_000155.3:c.940A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|benign;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_09..2017;ALL_SUBMITTERS=GeneReviews|OMIM;SUBMITTERS_ORDERED=GeneReviews|OMIM;ALL_TRAITS=Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|GALT_POLYMORPHISM_(LOS_ANGELES..D1);ALL_PMIDS=10408771|10424825|10649501|11216901|11286503|11754113|15633893|15841485|16838075|19224951|2011574|20301691|22475884|25473725|4759900|8522334|9012409;ORIGIN=germline;XREFS=GeneReviews:NBK1518|Genetic_Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206|MedGen:C0268151|OMIM:230400|Office_of_Rare_Diseases:2424|Orphanet:352|Orphanet:79239|SNOMED_CT:124354006|OMIM:606999.0012;DATES_ORDERED=2014-04-03|2009-05-01 +9 34646572 . CCAGT C . . START=34646583;STOP=34646586;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=140570;RCV=RCV000128642;SCV=SCV000148002;ALLELE_ID=36445;SYMBOL=GALT;HGVS_C=NM_000155.3:c.-67-52_-67-49delGTCA;MOLECULAR_CONSEQUENCE=NM_000155.3:c.-119_-116del:2KB_upstream_variant|NM_000155.3:c.-67-52_-67-49delGTCA:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_09..2017;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase;ALL_PMIDS=10408771|10424825|10649501|11216901|11286503|11754113|15633893|15841485|16838075|19224951|2011574|20301691|22475884|25473725;ORIGIN=germline;XREFS=GeneReviews:NBK1518|Genetic_Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206|MedGen:C0268151|OMIM:230400|Office_of_Rare_Diseases:2424|Orphanet:352|Orphanet:79239|SNOMED_CT:124354006;DATES_ORDERED=2014-04-03 +9 34648418 . C T . . START=34648418;STOP=34648418;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=3620;RCV=RCV000003804;SCV=SCV000023969;ALLELE_ID=18659;SYMBOL=GALT;HGVS_C=NM_000155.3:c.652C>T;HGVS_P=NP_000146.2:p.Leu218_eq_;MOLECULAR_CONSEQUENCE=NM_000155.3:c.652C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign..other;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_08..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=GALT_POLYMORPHISM_(LOS_ANGELES..D1)|GALT_POLYMORPHISM_(LOS_ANGELES..D1);ALL_PMIDS=10408771|10424825|19224951|2011574|4759900|8522334|9012409;ORIGIN=germline;XREFS=OMIM:606999.0012;DATES_ORDERED=2009-05-01 +9 34649442 . A G . . START=34649442;STOP=34649442;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=140570|3620;RCV=RCV000128642|RCV000003804;SCV=SCV000148002|SCV000023969;ALLELE_ID=18652;SYMBOL=GALT;HGVS_C=NM_000155.3:c.940A>G;HGVS_P=NP_000146.2:p.Asn314Asp;MOLECULAR_CONSEQUENCE=NM_000155.3:c.940A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|benign;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_26..2017;ALL_SUBMITTERS=GeneReviews|OMIM;SUBMITTERS_ORDERED=GeneReviews|OMIM;ALL_TRAITS=Deficiency_of_UDPglucose-hexose-1-phosphate_uridylyltransferase|GALT_POLYMORPHISM_(LOS_ANGELES..D1);ALL_PMIDS=10408771|10424825|10649501|11216901|11286503|11754113|15633893|15841485|16838075|19224951|2011574|20301691|22475884|25473725|4759900|8522334|9012409;ORIGIN=germline;XREFS=GeneReviews:NBK1518|Genetic_Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206|MedGen:C0268151|OMIM:230400|Office_of_Rare_Diseases:2424|Orphanet:352|Orphanet:79239|SNOMED_CT:124354006|OMIM:606999.0012;DATES_ORDERED=2014-04-03|2009-05-01 9 37424827 . TCC T . . START=37424829;STOP=37424830;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=204246;RCV=RCV000186453;SCV=SCV000239808;ALLELE_ID=200618;SYMBOL=GRHPR;HGVS_C=NM_012203.1:c.84-13_84-12delCC;MOLECULAR_CONSEQUENCE=NM_012203.1:c.84-13_84-12delCC:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_27..2014;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;SUBMITTERS_ORDERED=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_II|Primary_hyperoxaluria..type_II;ALL_PMIDS=14635115|20301742;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK2692|Genetic_Alliance:Primary+hyperoxaluria+type+2/5948|Genetic_Testing_Registry_(GTR):GTR000118462|Genetic_Testing_Registry_(GTR):GTR000507682|Genetic_Testing_Registry_(GTR):GTR000522211|Genetic_Testing_Registry_(GTR):GTR000528276|MedGen:C0268165|OMIM:260000|Office_of_Rare_Diseases:2836|Orphanet:416|Orphanet:93599|SNOMED_CT:40951006;DATES_ORDERED=2014-11-27 9 37424833 . TCCCC T . . START=37424834;STOP=37424837;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=204246;RCV=RCV000186453;SCV=SCV000239808;ALLELE_ID=200619;SYMBOL=GRHPR;HGVS_C=NM_012203.1:c.84-8_84-5delCCCC;MOLECULAR_CONSEQUENCE=NM_012203.1:c.84-8_84-5delCCCC:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_27..2014;ALL_SUBMITTERS=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;SUBMITTERS_ORDERED=Clinical_Biochemistry_Laboratory..Health_Services_Laboratory;ALL_TRAITS=Primary_hyperoxaluria..type_II|Primary_hyperoxaluria..type_II;ALL_PMIDS=14635115|20301742;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK2692|Genetic_Alliance:Primary+hyperoxaluria+type+2/5948|Genetic_Testing_Registry_(GTR):GTR000118462|Genetic_Testing_Registry_(GTR):GTR000507682|Genetic_Testing_Registry_(GTR):GTR000522211|Genetic_Testing_Registry_(GTR):GTR000528276|MedGen:C0268165|OMIM:260000|Office_of_Rare_Diseases:2836|Orphanet:416|Orphanet:93599|SNOMED_CT:40951006;DATES_ORDERED=2014-11-27 -9 101340316 . T C . . START=101340316;STOP=101340316;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=3331;RCV=RCV000003495;SCV=SCV000023653;ALLELE_ID=18370;SYMBOL=GABBR2;HGVS_C=NM_005458.7:c.360A>G;HGVS_P=NP_005449.5:p.Ala120_eq_;MOLECULAR_CONSEQUENCE=NM_005458.7:c.360A>G:synonymous_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_09..2010;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Tobacco_addiction..susceptibility_to|NICOTINE_DEPENDENCE..SUSCEPTIBILITY_TO;ALL_PMIDS=15759211;ORIGIN=germline;XREFS=Genetic_Alliance:Tobacco+addiction%2C+susceptibility+to/9410|MedGen:C1861063|OMIM:188890|OMIM:607340.0001|OMIM:607340.0002;DATES_ORDERED=2010-06-09 +9 101340316 . T C . . START=101340316;STOP=101340316;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=3331;RCV=RCV000003495;SCV=SCV000023653;ALLELE_ID=18370;SYMBOL=GABBR2;HGVS_C=NM_005458.7:c.360A>G;HGVS_P=NP_005449.5:p.Ala120_eq_;MOLECULAR_CONSEQUENCE=NM_005458.7:c.360A>G:synonymous_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_01..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Tobacco_addiction..susceptibility_to|NICOTINE_DEPENDENCE..SUSCEPTIBILITY_TO;ALL_PMIDS=15759211;ORIGIN=germline;XREFS=Genetic_Alliance:Tobacco+addiction%2C+susceptibility+to/9410|MedGen:C1861063|OMIM:188890|OMIM:607340.0001|OMIM:607340.0002;DATES_ORDERED=2005-05-01 9 127262853 . G A . . START=127262853;STOP=127262853;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=12809;RCV=RCV000013657|RCV000022775;SCV=SCV000033904|SCV000044064;ALLELE_ID=38458;SYMBOL=NR5A1;HGVS_C=NM_004959.4:c.386C>T;HGVS_P=NP_004950.2:p.Pro129Leu;MOLECULAR_CONSEQUENCE=NM_004959.4:c.386C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_08..2010;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Premature_ovarian_failure_7|PREMATURE_OVARIAN_FAILURE_7|Spermatogenic_failure_8;ALL_PMIDS=19246354|20887963;ORIGIN=germline;XREFS=Genetic_Alliance:Premature+ovarian+failure+7/9153|MedGen:C2751825|OMIM:612964|Genetic_Alliance:Spermatogenic+failure+8/9327|MedGen:C3151406|OMIM:613957;DATES_ORDERED=2010-10-08 9 127262871 . C G . . START=127262871;STOP=127262871;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=12809;RCV=RCV000013657|RCV000022775;SCV=SCV000033904|SCV000044064;ALLELE_ID=27848;SYMBOL=NR5A1;HGVS_C=NM_004959.4:c.368G>C;HGVS_P=NP_004950.2:p.Gly123Ala;MOLECULAR_CONSEQUENCE=NM_004959.4:c.368G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_08..2010;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Premature_ovarian_failure_7|PREMATURE_OVARIAN_FAILURE_7|Spermatogenic_failure_8;ALL_PMIDS=19246354|20887963;ORIGIN=germline;XREFS=Genetic_Alliance:Premature+ovarian+failure+7/9153|MedGen:C2751825|OMIM:612964|Genetic_Alliance:Spermatogenic+failure+8/9327|MedGen:C3151406|OMIM:613957;DATES_ORDERED=2010-10-08 -9 135203176 . G A . . START=135203176;STOP=135203176;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=157525;RCV=RCV000144869;SCV=SCV000172140;ALLELE_ID=167387;SYMBOL=SETX;HGVS_C=NM_015046.5:c.3809C>T;HGVS_P=NP_055861.3:p.Pro1270Leu;MOLECULAR_CONSEQUENCE=NM_015046.5:c.3809C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|Charcot-Marie-Tooth_disease;ALL_PMIDS=20301532|25025039;ORIGIN=tested-inconclusive;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01 +9 135203105 . G A . . START=135203105;STOP=135203105;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=441281;RCV=RCV000002384;SCV=SCV000022542;ALLELE_ID=38425;SYMBOL=SETX;HGVS_C=NM_015046.5:c.3880C>T;HGVS_P=NP_055861.3:p.Arg1294Cys;MOLECULAR_CONSEQUENCE=NM_015046.5:c.3880C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_23..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_autosomal_recessive_1|SPINOCEREBELLAR_ATAXIA..AUTOSOMAL_RECESSIVE_1;ALL_PMIDS=16717225|20050888|20301317|20301333;ORIGIN=germline;XREFS=GeneReviews:NBK1154|Genetic_Alliance:Spinocerebellar+ataxia+autosomal+recessive+1/6771|Genetics_Home_Reference:ataxia-with-oculomotor-apraxia|MedGen:C1853761|OMIM:606002|Office_of_Rare_Diseases:4949|Orphanet:64753;DATES_ORDERED=2006-05-23 +9 135203176 . G A . . START=135203176;STOP=135203176;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=157525;RCV=RCV000144869;SCV=SCV000172140;ALLELE_ID=167387;SYMBOL=SETX;HGVS_C=NM_015046.5:c.3809C>T;HGVS_P=NP_055861.3:p.Pro1270Leu;MOLECULAR_CONSEQUENCE=NM_015046.5:c.3809C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_09..2016;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|Charcot-Marie-Tooth_disease;ALL_PMIDS=20301532|25025039;ORIGIN=tested-inconclusive;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01 9 135203908 . C CTCA . . START=135203909;STOP=135203910;VARIATION_TYPE=Distinct_chromosomes;VARIATION_ID=157528;RCV=RCV000144873;SCV=SCV000172145;ALLELE_ID=167390;SYMBOL=REEP1;HGVS_C=NM_015046.5:c.3075_3076insTGA;HGVS_P=NP_055861.3:p.Arg1026_Lys1360delinsTer;MOLECULAR_CONSEQUENCE=NM_015046.5:c.3075_3076insTGA:inframe_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..2013;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|spasticity|Charcot-Marie-Tooth_disease;ALL_PMIDS=20301532|25025039;ORIGIN=tested-inconclusive;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01 -9 135224757 . C T . . START=135224757;STOP=135224757;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=157525;RCV=RCV000144869;SCV=SCV000172140;ALLELE_ID=167386;SYMBOL=SETX;HGVS_C=NM_015046.5:c.59G>A;HGVS_P=NP_055861.3:p.Arg20His;MOLECULAR_CONSEQUENCE=NM_015046.5:c.59G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_06..2016;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|Charcot-Marie-Tooth_disease;ALL_PMIDS=20301532|25025039;ORIGIN=tested-inconclusive;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01 +9 135205028 . G T . . START=135205028;STOP=135205028;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=441280;RCV=RCV000002383;SCV=SCV000022541;ALLELE_ID=38424;SYMBOL=SETX;HGVS_C=NM_015046.5:c.1957C>A;HGVS_P=NP_055861.3:p.Gln653Lys;MOLECULAR_CONSEQUENCE=NM_015046.5:c.1957C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2007;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_autosomal_recessive_1|SPINOCEREBELLAR_ATAXIA..AUTOSOMAL_RECESSIVE_1;ALL_PMIDS=17096168|20050888|20301317|20301333;ORIGIN=germline;XREFS=GeneReviews:NBK1154|Genetic_Alliance:Spinocerebellar+ataxia+autosomal+recessive+1/6771|Genetics_Home_Reference:ataxia-with-oculomotor-apraxia|MedGen:C1853761|OMIM:606002|Office_of_Rare_Diseases:4949|Orphanet:64753;DATES_ORDERED=2007-01-01 +9 135205178 . T C . . START=135205178;STOP=135205178;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=441280;RCV=RCV000002383;SCV=SCV000022541;ALLELE_ID=17332;SYMBOL=SETX;HGVS_C=NM_015046.5:c.1807A>G;HGVS_P=NP_055861.3:p.Asn603Asp;MOLECULAR_CONSEQUENCE=NM_015046.5:c.1807A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2007;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_autosomal_recessive_1|SPINOCEREBELLAR_ATAXIA..AUTOSOMAL_RECESSIVE_1;ALL_PMIDS=17096168|20050888|20301317|20301333;ORIGIN=germline;XREFS=GeneReviews:NBK1154|Genetic_Alliance:Spinocerebellar+ataxia+autosomal+recessive+1/6771|Genetics_Home_Reference:ataxia-with-oculomotor-apraxia|MedGen:C1853761|OMIM:606002|Office_of_Rare_Diseases:4949|Orphanet:64753;DATES_ORDERED=2007-01-01 +9 135224757 . C T . . START=135224757;STOP=135224757;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=157525;RCV=RCV000144869;SCV=SCV000172140;ALLELE_ID=167386;SYMBOL=SETX;HGVS_C=NM_015046.5:c.59G>A;HGVS_P=NP_055861.3:p.Arg20His;MOLECULAR_CONSEQUENCE=NM_015046.5:c.59G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_31..2017;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|Charcot-Marie-Tooth_disease;ALL_PMIDS=20301532|25025039;ORIGIN=tested-inconclusive;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01 9 136131315 . C G . . START=136131315;STOP=136131315;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=17738;RCV=RCV000019312;SCV=SCV000039601;ALLELE_ID=38414;SYMBOL=ABO;HGVS_C=NM_020469.2:c.803G>C;HGVS_P=NP_065202.2:p.Gly268Ala;MOLECULAR_CONSEQUENCE=NM_020469.2:c.803G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=association;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_18..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=ABO_blood_group_system|ABO_BLOOD_GROUP_SYSTEM..CIS-AB_PHENOTYPE;ALL_PMIDS=14170898|6775529|8456556;ORIGIN=germline;XREFS=MedGen:C0000778|OMIM:110300.0001|OMIM:110300.0002|OMIM:110300.0003|OMIM:110300.0004|OMIM:110300.0005|OMIM:616093|SNOMED_CT:63915006;DATES_ORDERED=2015-05-18 9 136131651 . G A . . START=136131651;STOP=136131651;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=17738;RCV=RCV000019312;SCV=SCV000039601;ALLELE_ID=32777;SYMBOL=ABO;HGVS_C=NM_020469.2:c.467C>T;HGVS_P=NP_065202.2:p.Pro156Leu;MOLECULAR_CONSEQUENCE=NM_020469.2:c.467C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=association;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_18..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=ABO_blood_group_system|ABO_BLOOD_GROUP_SYSTEM..CIS-AB_PHENOTYPE;ALL_PMIDS=14170898|6775529|8456556;ORIGIN=germline;XREFS=MedGen:C0000778|OMIM:110300.0001|OMIM:110300.0002|OMIM:110300.0003|OMIM:110300.0004|OMIM:110300.0005|OMIM:616093|SNOMED_CT:63915006;DATES_ORDERED=2015-05-18 -9 136301982 . C G . . START=136301982;STOP=136301982;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=5813;RCV=RCV000006169;SCV=SCV000026351;ALLELE_ID=20852;SYMBOL=ADAMTS13;HGVS_C=NM_139025.4:c.1342C>G;HGVS_P=NP_620594.1:p.Gln448Glu;MOLECULAR_CONSEQUENCE=NM_139025.4:c.1342C>G:missense_variant|NR_024514.2:n.993-2504C>G:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Upshaw-Schulman_syndrome|THROMBOTIC_THROMBOCYTOPENIC_PURPURA..CONGENITAL;ALL_PMIDS=12181489;ORIGIN=germline;XREFS=Genetic_Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089|Genetics_Home_Reference:thrombotic-thrombocytopenic-purpura|MedGen:C1268935|OMIM:274150|Office_of_Rare_Diseases:9430|SNOMED_CT:373420004;DATES_ORDERED=2002-09-03 -9 136302956 . G A . . START=136302956;STOP=136302956;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=5813;RCV=RCV000006169;SCV=SCV000026351;ALLELE_ID=38438;SYMBOL=ADAMTS13;HGVS_C=NM_139025.4:c.1523G>A;HGVS_P=NP_620594.1:p.Cys508Tyr;MOLECULAR_CONSEQUENCE=NM_139025.4:c.1523G>A:missense_variant|NR_024514.2:n.993-1530G>A:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_03..2002;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Upshaw-Schulman_syndrome|THROMBOTIC_THROMBOCYTOPENIC_PURPURA..CONGENITAL;ALL_PMIDS=12181489;ORIGIN=germline;XREFS=Genetic_Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089|Genetics_Home_Reference:thrombotic-thrombocytopenic-purpura|MedGen:C1268935|OMIM:274150|Office_of_Rare_Diseases:9430|SNOMED_CT:373420004;DATES_ORDERED=2002-09-03 -9 136501794 . G A . . START=136501794;STOP=136501794;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=1752;RCV=RCV000001822;SCV=SCV000021978;ALLELE_ID=16791;SYMBOL=DBH;HGVS_C=NM_000787.3:c.301G>A;HGVS_P=NP_000778.3:p.Val101Met;MOLECULAR_CONSEQUENCE=NM_000787.3:c.301G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_29..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dopamine_beta_hydroxylase_deficiency|DOPAMINE_BETA-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11857564|20301647;ORIGIN=germline;XREFS=GeneReviews:NBK1474|Genetic_Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316|MedGen:C1857209|OMIM:223360|Office_of_Rare_Diseases:1903|Orphanet:230;DATES_ORDERED=2002-03-01 -9 136512976 . G A . . START=136512976;STOP=136512976;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=1752;RCV=RCV000001822;SCV=SCV000021978;ALLELE_ID=38418;SYMBOL=DBH;HGVS_C=NM_000787.3:c.1033G>A;HGVS_P=NP_000778.3:p.Asp345Asn;MOLECULAR_CONSEQUENCE=NM_000787.3:c.1033G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_29..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dopamine_beta_hydroxylase_deficiency|DOPAMINE_BETA-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11857564|20301647;ORIGIN=germline;XREFS=GeneReviews:NBK1474|Genetic_Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316|MedGen:C1857209|OMIM:223360|Office_of_Rare_Diseases:1903|Orphanet:230;DATES_ORDERED=2002-03-01 +9 136301982 . C G . . START=136301982;STOP=136301982;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=5813;RCV=RCV000006169;SCV=SCV000026351;ALLELE_ID=20852;SYMBOL=ADAMTS13;HGVS_C=NM_139025.4:c.1342C>G;HGVS_P=NP_620594.1:p.Gln448Glu;MOLECULAR_CONSEQUENCE=NM_139025.4:c.1342C>G:missense_variant|NR_024514.2:n.993-2504C>G:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Upshaw-Schulman_syndrome|THROMBOTIC_THROMBOCYTOPENIC_PURPURA..CONGENITAL;ALL_PMIDS=12181489;ORIGIN=germline;XREFS=Genetic_Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089|Genetics_Home_Reference:thrombotic-thrombocytopenic-purpura|MedGen:C1268935|OMIM:274150|Office_of_Rare_Diseases:9430|SNOMED_CT:373420004;DATES_ORDERED=2002-09-03 +9 136302956 . G A . . START=136302956;STOP=136302956;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=5813;RCV=RCV000006169;SCV=SCV000026351;ALLELE_ID=38438;SYMBOL=ADAMTS13;HGVS_C=NM_139025.4:c.1523G>A;HGVS_P=NP_620594.1:p.Cys508Tyr;MOLECULAR_CONSEQUENCE=NM_139025.4:c.1523G>A:missense_variant|NR_024514.2:n.993-1530G>A:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_03..2002;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Upshaw-Schulman_syndrome|THROMBOTIC_THROMBOCYTOPENIC_PURPURA..CONGENITAL;ALL_PMIDS=12181489;ORIGIN=germline;XREFS=Genetic_Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089|Genetics_Home_Reference:thrombotic-thrombocytopenic-purpura|MedGen:C1268935|OMIM:274150|Office_of_Rare_Diseases:9430|SNOMED_CT:373420004;DATES_ORDERED=2002-09-03 +9 136501794 . G A . . START=136501794;STOP=136501794;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=1752;RCV=RCV000001822;SCV=SCV000021978;ALLELE_ID=16791;SYMBOL=DBH;HGVS_C=NM_000787.3:c.301G>A;HGVS_P=NP_000778.3:p.Val101Met;MOLECULAR_CONSEQUENCE=NM_000787.3:c.301G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_29..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dopamine_beta_hydroxylase_deficiency|DOPAMINE_BETA-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11857564|20301647;ORIGIN=germline;XREFS=GeneReviews:NBK1474|Genetic_Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316|MedGen:C0342687|OMIM:223360|Office_of_Rare_Diseases:1903|Orphanet:230;DATES_ORDERED=2002-03-01 +9 136512976 . G A . . START=136512976;STOP=136512976;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=1752;RCV=RCV000001822;SCV=SCV000021978;ALLELE_ID=38418;SYMBOL=DBH;HGVS_C=NM_000787.3:c.1033G>A;HGVS_P=NP_000778.3:p.Asp345Asn;MOLECULAR_CONSEQUENCE=NM_000787.3:c.1033G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_29..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dopamine_beta_hydroxylase_deficiency|DOPAMINE_BETA-HYDROXYLASE_DEFICIENCY;ALL_PMIDS=11857564|20301647;ORIGIN=germline;XREFS=GeneReviews:NBK1474|Genetic_Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316|MedGen:C0342687|OMIM:223360|Office_of_Rare_Diseases:1903|Orphanet:230;DATES_ORDERED=2002-03-01 10 43609944 . G C . . START=43609944;STOP=43609944;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13906;RCV=RCV000014920;SCV=SCV000035176;ALLELE_ID=28945;SYMBOL=RET;HGVS_C=NM_020975.4:c.1896G>C;HGVS_P=NP_066124.1:p.Glu632Asp;MOLECULAR_CONSEQUENCE=NM_020975.4:c.1896G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1994;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_endocrine_neoplasia..type_2a|MULTIPLE_ENDOCRINE_NEOPLASIA..TYPE_IIA;ALL_PMIDS=11739416|19469690|20301434|21863057|23788249|24893135|25356965|25394175|27854360|3078962|7907913|8099202|8103403|8918855;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia+type+2A/4956|MeSH:D018813|MedGen:C0025268|OMIM:164761.0001|OMIM:164761.0002|OMIM:164761.0003|OMIM:164761.0004|OMIM:164761.0005|OMIM:164761.0006|OMIM:164761.0007|OMIM:164761.0008|OMIM:164761.0009|OMIM:164761.0010|OMIM:164761.0011|OMIM:164761.0012|OMIM:164761.0024|OMIM:164761.0025|OMIM:164761.0033|OMIM:164761.0040|OMIM:164761.0047|OMIM:164761.0049|OMIM:171400|Orphanet:653|SNOMED_CT:61808009;DATES_ORDERED=1994-01-01 -10 43609945 . C G . . START=43609945;STOP=43609945;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13906;RCV=RCV000014920;SCV=SCV000035176;ALLELE_ID=38399;SYMBOL=RET;HGVS_C=NM_020975.4:c.1897C>G;HGVS_P=NP_066124.1:p.Leu633Val;MOLECULAR_CONSEQUENCE=NM_020975.4:c.1897C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_13..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_endocrine_neoplasia..type_2a|MULTIPLE_ENDOCRINE_NEOPLASIA..TYPE_IIA;ALL_PMIDS=11739416|19469690|20301434|21863057|23788249|24893135|25356965|25394175|27854360|3078962|7907913|8099202|8103403|8918855;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia+type+2A/4956|MeSH:D018813|MedGen:C0025268|OMIM:164761.0001|OMIM:164761.0002|OMIM:164761.0003|OMIM:164761.0004|OMIM:164761.0005|OMIM:164761.0006|OMIM:164761.0007|OMIM:164761.0008|OMIM:164761.0009|OMIM:164761.0010|OMIM:164761.0011|OMIM:164761.0012|OMIM:164761.0024|OMIM:164761.0025|OMIM:164761.0033|OMIM:164761.0040|OMIM:164761.0047|OMIM:164761.0049|OMIM:171400|Orphanet:653|SNOMED_CT:61808009;DATES_ORDERED=1994-01-01 -10 43609948 . T C . . START=43609948;STOP=43609948;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13906;RCV=RCV000014920;SCV=SCV000035176;ALLELE_ID=28956;SYMBOL=RET;HGVS_C=NM_020975.4:c.1900T>C;HGVS_P=NP_066124.1:p.Cys634Arg;MOLECULAR_CONSEQUENCE=NM_020975.4:c.1900T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_29..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_endocrine_neoplasia..type_2a|MULTIPLE_ENDOCRINE_NEOPLASIA..TYPE_IIA;ALL_PMIDS=11739416|19469690|20301434|21863057|23788249|24893135|25356965|25394175|27854360|3078962|7907913|8099202|8103403|8918855;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia+type+2A/4956|MeSH:D018813|MedGen:C0025268|OMIM:164761.0001|OMIM:164761.0002|OMIM:164761.0003|OMIM:164761.0004|OMIM:164761.0005|OMIM:164761.0006|OMIM:164761.0007|OMIM:164761.0008|OMIM:164761.0009|OMIM:164761.0010|OMIM:164761.0011|OMIM:164761.0012|OMIM:164761.0024|OMIM:164761.0025|OMIM:164761.0033|OMIM:164761.0040|OMIM:164761.0047|OMIM:164761.0049|OMIM:171400|Orphanet:653|SNOMED_CT:61808009;DATES_ORDERED=1994-01-01 -10 43614996 . G A . . START=43614996;STOP=43614996;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13945;RCV=RCV000014972;SCV=SCV000035228;ALLELE_ID=28984;SYMBOL=RET;HGVS_C=NM_020975.4:c.2410G>A;HGVS_P=NP_066124.1:p.Val804Met;MOLECULAR_CONSEQUENCE=NM_020975.4:c.2410G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_13..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_endocrine_neoplasia..type_2b|MULTIPLE_ENDOCRINE_NEOPLASIA..TYPE_IIB;ALL_PMIDS=11739416|11788682|19469690|20301434|21863057|23788249|24893135|25356965|27854360|8797874|8918855;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958|MeSH:D018814|MedGen:C0025269|OMIM:162300|OMIM:164761.0013|OMIM:164761.0043|Orphanet:653|SNOMED_CT:6153000|SNOMED_CT:61530001;DATES_ORDERED=2002-01-01 -10 43615632 . C G . . START=43615632;STOP=43615632;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13945;RCV=RCV000014972;SCV=SCV000035228;ALLELE_ID=36303;SYMBOL=RET;HGVS_C=NM_020975.4:c.2711C>G;HGVS_P=NP_066124.1:p.Ser904Cys;MOLECULAR_CONSEQUENCE=NM_020975.4:c.2711C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_endocrine_neoplasia..type_2b|MULTIPLE_ENDOCRINE_NEOPLASIA..TYPE_IIB;ALL_PMIDS=11739416|11788682|19469690|20301434|21863057|23788249|24893135|25356965|27854360|8797874|8918855;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958|MeSH:D018814|MedGen:C0025269|OMIM:162300|OMIM:164761.0013|OMIM:164761.0043|Orphanet:653|SNOMED_CT:6153000|SNOMED_CT:61530001;DATES_ORDERED=2002-01-01 +10 43609945 . C G . . START=43609945;STOP=43609945;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13906;RCV=RCV000014920;SCV=SCV000035176;ALLELE_ID=38399;SYMBOL=RET;HGVS_C=NM_020975.4:c.1897C>G;HGVS_P=NP_066124.1:p.Leu633Val;MOLECULAR_CONSEQUENCE=NM_020975.4:c.1897C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_13..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_endocrine_neoplasia..type_2a|MULTIPLE_ENDOCRINE_NEOPLASIA..TYPE_IIA;ALL_PMIDS=11739416|19469690|20301434|21863057|23788249|24893135|25356965|25394175|27854360|3078962|7907913|8099202|8103403|8918855;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia+type+2A/4956|MeSH:D018813|MedGen:C0025268|OMIM:164761.0001|OMIM:164761.0002|OMIM:164761.0003|OMIM:164761.0004|OMIM:164761.0005|OMIM:164761.0006|OMIM:164761.0007|OMIM:164761.0008|OMIM:164761.0009|OMIM:164761.0010|OMIM:164761.0011|OMIM:164761.0012|OMIM:164761.0024|OMIM:164761.0025|OMIM:164761.0033|OMIM:164761.0040|OMIM:164761.0047|OMIM:164761.0049|OMIM:171400|Orphanet:653|SNOMED_CT:61808009;DATES_ORDERED=1994-01-01 +10 43609948 . T C . . START=43609948;STOP=43609948;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13906;RCV=RCV000014920;SCV=SCV000035176;ALLELE_ID=28956;SYMBOL=RET;HGVS_C=NM_020975.4:c.1900T>C;HGVS_P=NP_066124.1:p.Cys634Arg;MOLECULAR_CONSEQUENCE=NM_020975.4:c.1900T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_28..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_endocrine_neoplasia..type_2a|MULTIPLE_ENDOCRINE_NEOPLASIA..TYPE_IIA;ALL_PMIDS=11739416|19469690|20301434|21863057|23788249|24893135|25356965|25394175|27854360|3078962|7907913|8099202|8103403|8918855;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia+type+2A/4956|MeSH:D018813|MedGen:C0025268|OMIM:164761.0001|OMIM:164761.0002|OMIM:164761.0003|OMIM:164761.0004|OMIM:164761.0005|OMIM:164761.0006|OMIM:164761.0007|OMIM:164761.0008|OMIM:164761.0009|OMIM:164761.0010|OMIM:164761.0011|OMIM:164761.0012|OMIM:164761.0024|OMIM:164761.0025|OMIM:164761.0033|OMIM:164761.0040|OMIM:164761.0047|OMIM:164761.0049|OMIM:171400|Orphanet:653|SNOMED_CT:61808009;DATES_ORDERED=1994-01-01 +10 43614996 . G A . . START=43614996;STOP=43614996;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13945;RCV=RCV000014972;SCV=SCV000035228;ALLELE_ID=28984;SYMBOL=RET;HGVS_C=NM_020975.4:c.2410G>A;HGVS_P=NP_066124.1:p.Val804Met;MOLECULAR_CONSEQUENCE=NM_020975.4:c.2410G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_endocrine_neoplasia..type_2b|MULTIPLE_ENDOCRINE_NEOPLASIA..TYPE_IIB;ALL_PMIDS=11739416|11788682|19469690|20301434|21863057|23788249|24893135|25356965|27854360|8797874|8918855;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958|MeSH:D018814|MedGen:C0025269|OMIM:162300|OMIM:164761.0013|OMIM:164761.0043|Orphanet:653|SNOMED_CT:6153000|SNOMED_CT:61530001;DATES_ORDERED=2002-01-01 +10 43615632 . C G . . START=43615632;STOP=43615632;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13945;RCV=RCV000014972;SCV=SCV000035228;ALLELE_ID=36303;SYMBOL=RET;HGVS_C=NM_020975.4:c.2711C>G;HGVS_P=NP_066124.1:p.Ser904Cys;MOLECULAR_CONSEQUENCE=NM_020975.4:c.2711C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_endocrine_neoplasia..type_2b|MULTIPLE_ENDOCRINE_NEOPLASIA..TYPE_IIB;ALL_PMIDS=11739416|11788682|19469690|20301434|21863057|23788249|24893135|25356965|27854360|8797874|8918855;ORIGIN=germline;XREFS=GeneReviews:NBK1257|Genetic_Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958|MeSH:D018814|MedGen:C0025269|OMIM:162300|OMIM:164761.0013|OMIM:164761.0043|Orphanet:653|SNOMED_CT:6153000|SNOMED_CT:61530001;DATES_ORDERED=2002-01-01 10 64573251 . C A . . START=64573251;STOP=64573251;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=16751;RCV=RCV000018235;SCV=SCV000038514;ALLELE_ID=38481;SYMBOL=EGR2;HGVS_C=NM_000399.4:c.1147G>T;HGVS_P=NP_000390.2:p.Asp383Tyr;MOLECULAR_CONSEQUENCE=NM_000399.4:c.1147G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_18..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Neuropathy..congenital_hypomyelinating..autosomal_dominant|NEUROPATHY..CONGENITAL_HYPOMYELINATING..AUTOSOMAL_DOMINANT;ALL_PMIDS=9537424;ORIGIN=germline;XREFS=MedGen:CN069993;DATES_ORDERED=1998-04-01 10 64573252 . A C . . START=64573252;STOP=64573252;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=16751;RCV=RCV000018235;SCV=SCV000038514;ALLELE_ID=31790;SYMBOL=EGR2;HGVS_C=NM_000399.4:c.1146T>G;HGVS_P=NP_000390.2:p.Ser382Arg;MOLECULAR_CONSEQUENCE=NM_000399.4:c.1146T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_18..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Neuropathy..congenital_hypomyelinating..autosomal_dominant|NEUROPATHY..CONGENITAL_HYPOMYELINATING..AUTOSOMAL_DOMINANT;ALL_PMIDS=9537424;ORIGIN=germline;XREFS=MedGen:CN069993;DATES_ORDERED=1998-04-01 10 72643759 . C T . . START=72643759;STOP=72643759;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=180130;RCV=RCV000156929;SCV=SCV000206650;ALLELE_ID=178310;SYMBOL=PCBD1;HGVS_C=NM_000281.3:c.263G>A;HGVS_P=NP_000272.1:p.Arg88Gln;MOLECULAR_CONSEQUENCE=NM_000281.3:c.263G>A:missense_variant|NM_001323004.1:c.216+1150G>A:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hyperphenylalaninemia..BH4-deficient..D|HYPERPHENYLALANINEMIA..BH4-DEFICIENT..D;ALL_PMIDS=24848070|9760199;ORIGIN=germline;XREFS=Genetic_Alliance:Hyperphenylalaninemia+with+primapterinuria/3595|MedGen:C1849700|OMIM:264070|Orphanet:238583;DATES_ORDERED=2014-10-01 @@ -353,45 +377,47 @@ 10 96073100 . T C . . START=96073100;STOP=96073100;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=266012;RCV=RCV000256386;SCV=SCV000323171;ALLELE_ID=260792;SYMBOL=PLCE1;HGVS_C=NM_016341.3:c.6093T>C;HGVS_P=NP_057425.3:p.Thr2031_eq_;MOLECULAR_CONSEQUENCE=NM_016341.3:c.6093T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;SUBMITTERS_ORDERED=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;ALL_TRAITS=Nephrotic_syndrome..type_3;ORIGIN=germline;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+type+3/8988|MedGen:C1853124|OMIM:610725|Orphanet:656;DATES_ORDERED=0000-00-00 10 96084728 . G A . . START=96084728;STOP=96084728;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=266012;RCV=RCV000256386;SCV=SCV000323171;ALLELE_ID=260793;SYMBOL=PLCE1;HGVS_C=NM_016341.3:c.6800G>A;HGVS_P=NP_057425.3:p.Arg2267Gln;MOLECULAR_CONSEQUENCE=NM_016341.3:c.6800G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;SUBMITTERS_ORDERED=Bioscientia_Institut_fuer_Medizinische_Diagnostik_GmbH..Sonic_Healthcare;ALL_TRAITS=Nephrotic_syndrome..type_3;ORIGIN=germline;XREFS=Genetic_Alliance:Nephrotic+syndrome%2C+type+3/8988|MedGen:C1853124|OMIM:610725|Orphanet:656;DATES_ORDERED=0000-00-00 10 96702047 . C T . . START=96702047;STOP=96702047;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=177709;RCV=RCV000154312;SCV=SCV000203973;ALLELE_ID=23448;SYMBOL=CYP2C9;HGVS_C=NM_000771.3:c.430C>T;HGVS_P=NP_000762.2:p.Arg144Cys;MOLECULAR_CONSEQUENCE=NM_000771.3:c.430C>T:missense_variant;CLINICAL_SIGNIFICANCE=drug_response;CLINICAL_SIGNIFICANCE_ORDERED=drug_response;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=reviewed_by_expert_panel;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_28..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Warfarin_response|Warfarin_Metabolism;ALL_PMIDS=18281915|18281922|24251364|26186657;ORIGIN=germline;XREFS=Genetic_Alliance:Warfarin+response/9469|MedGen:CN078029|OMIM:122700|OMIM:122720.0001|OMIM:122720.0005|OMIM:608547.0002|OMIM:608547.0003|OMIM:608547.0004|OMIM:608547.0005|OMIM:608547.0007|PharmGKB:PA451906;DATES_ORDERED=2006-11-20 -10 96741053 . A C . . START=96741053;STOP=96741053;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=163021;RCV=RCV000150378;SCV=SCV000197513;ALLELE_ID=23447;SYMBOL=CYP2C9;HGVS_C=NM_000771.3:c.1075A>C;HGVS_P=NP_000762.2:p.Ile359Leu;MOLECULAR_CONSEQUENCE=NM_000771.3:c.1075A>C:missense_variant;CLINICAL_SIGNIFICANCE=drug_response;CLINICAL_SIGNIFICANCE_ORDERED=drug_response;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=reviewed_by_expert_panel;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_10..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Warfarin_response|Warfarin_Metabolism;ALL_PMIDS=18281915|18281922|24251364|26186657;ORIGIN=germline;XREFS=Genetic_Alliance:Warfarin+response/9469|MedGen:CN078029|OMIM:122700|OMIM:122720.0001|OMIM:122720.0005|OMIM:608547.0002|OMIM:608547.0003|OMIM:608547.0004|OMIM:608547.0005|OMIM:608547.0007|PharmGKB:PA451906;DATES_ORDERED=2006-11-20 +10 96741053 . A C . . START=96741053;STOP=96741053;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=163021;RCV=RCV000150378;SCV=SCV000197513;ALLELE_ID=23447;SYMBOL=CYP2C9;HGVS_C=NM_000771.3:c.1075A>C;HGVS_P=NP_000762.2:p.Ile359Leu;MOLECULAR_CONSEQUENCE=NM_000771.3:c.1075A>C:missense_variant;CLINICAL_SIGNIFICANCE=drug_response;CLINICAL_SIGNIFICANCE_ORDERED=drug_response;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_10..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Warfarin_response|Warfarin_Metabolism;ALL_PMIDS=18281915|18281922|24251364|26186657;ORIGIN=germline;XREFS=Genetic_Alliance:Warfarin+response/9469|MedGen:CN078029|OMIM:122700|OMIM:122720.0001|OMIM:122720.0005|OMIM:608547.0002|OMIM:608547.0003|OMIM:608547.0004|OMIM:608547.0005|OMIM:608547.0007|PharmGKB:PA451906;DATES_ORDERED=2006-11-20 10 120790050 . G A . . START=120790050;STOP=120790050;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=65392;RCV=RCV000055619;SCV=SCV000083844;ALLELE_ID=76326;SYMBOL=NANOS1;HGVS_C=NM_199461.3:c.737G>A;HGVS_P=NP_955631.1:p.Arg246His;MOLECULAR_CONSEQUENCE=NM_199461.3:c.737G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spermatogenic_failure_12|SPERMATOGENIC_FAILURE_12;ALL_PMIDS=23315541;ORIGIN=germline;XREFS=MedGen:C3809427|OMIM:615413;DATES_ORDERED=2013-03-01 10 120790139 . CG TA . . START=120790139;STOP=120790140;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=65392;RCV=RCV000055619;SCV=SCV000083844;ALLELE_ID=76327;SYMBOL=NANOS1;HGVS_C=NM_199461.3:c.826_827delCGinsTA;HGVS_P=NP_955631.1:p.Arg276Tyr;MOLECULAR_CONSEQUENCE=NM_199461.3:c.826_827delCGinsTA:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spermatogenic_failure_12|SPERMATOGENIC_FAILURE_12;ALL_PMIDS=23315541;ORIGIN=germline;XREFS=MedGen:C3809427|OMIM:615413;DATES_ORDERED=2013-03-01 10 135339605 . G C . . START=135339605;STOP=135339605;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=16887;RCV=RCV000018383;SCV=SCV000038665;ALLELE_ID=136523;SYMBOL=CYP2E1;HGVS_C=NM_000773.3:c.-1295G>C;MOLECULAR_CONSEQUENCE=NM_000773.3:c.-1295G>C:2KB_upstream_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=CYP2E1*5B_ALLELE|CYP2E1*5B_ALLELE;ALL_PMIDS=10543395|1778977|19444287;ORIGIN=germline;XREFS=OMIM:124040.0001;DATES_ORDERED=2016-04-20 10 135339845 . C T . . START=135339845;STOP=135339845;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=16887;RCV=RCV000018383;SCV=SCV000038665;ALLELE_ID=136524;SYMBOL=CYP2E1;HGVS_C=NM_000773.3:c.-1055C>T;MOLECULAR_CONSEQUENCE=NM_000773.3:c.-1055C>T:2KB_upstream_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=CYP2E1*5B_ALLELE|CYP2E1*5B_ALLELE;ALL_PMIDS=10543395|1778977|19444287;ORIGIN=germline;XREFS=OMIM:124040.0001;DATES_ORDERED=2016-04-20 -11 5246839 . T A . . START=5246839;STOP=5246839;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15617;RCV=RCV000016884;SCV=SCV000037154;ALLELE_ID=38409;SYMBOL=HBB;HGVS_C=NM_000518.4:c.433A>T;HGVS_P=NP_000509.1:p.Lys145Ter;MOLECULAR_CONSEQUENCE=NM_000518.4:c.433A>T:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_KOCHI|HEMOGLOBIN_KOCHI;ALL_PMIDS=15768550;ORIGIN=germline;XREFS=OMIM:141900.0532;DATES_ORDERED=2016-07-20 -11 5246844 . G A . . START=5246844;STOP=5246844;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15337;RCV=RCV000016580;SCV=SCV000036849;ALLELE_ID=38472;SYMBOL=HBB;HGVS_C=NM_000518.4:c.428C>T;HGVS_P=NP_000509.1:p.Ala143Val;MOLECULAR_CONSEQUENCE=NM_000518.4:c.428C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1992;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_S_(TRAVIS)|HEMOGLOBIN_S_(TRAVIS);ALL_PMIDS=1634360|19257;ORIGIN=germline;XREFS=OMIM:141900.0247;DATES_ORDERED=1992-01-01 -11 5246848 . G C . . START=5246848;STOP=5246848;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15617;RCV=RCV000016884;SCV=SCV000037154;ALLELE_ID=30656;SYMBOL=HBB;HGVS_C=NM_000518.4:c.424C>G;HGVS_P=NP_000509.1:p.Leu142Val;MOLECULAR_CONSEQUENCE=NM_000518.4:c.424C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_KOCHI|HEMOGLOBIN_KOCHI;ALL_PMIDS=15768550;ORIGIN=germline;XREFS=OMIM:141900.0532;DATES_ORDERED=2016-07-20 -11 5246905 . A G . . START=5246905;STOP=5246905;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15581;RCV=RCV000016848;SCV=SCV000037118;ALLELE_ID=30619;SYMBOL=HBB;HGVS_C=NM_000518.4:c.367T>C;HGVS_P=NP_000509.1:p.Phe123Leu;MOLECULAR_CONSEQUENCE=NM_000518.4:c.367T>C:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_CASABLANCA|HEMOGLOBIN_CASABLANCA;ALL_PMIDS=10870883;ORIGIN=germline;XREFS=OMIM:141900.0493;DATES_ORDERED=2016-07-20 -11 5246908 . C G . . START=5246908;STOP=5246908;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15366|15496|15591;RCV=RCV000016617|RCV000016758|RCV000016858;SCV=SCV000036886|SCV000037028|SCV000037128;ALLELE_ID=30191;SYMBOL=HBB;HGVS_C=NM_000518.4:c.364G>C;HGVS_P=NP_000509.1:p.Glu122Gln;MOLECULAR_CONSEQUENCE=NM_000518.4:c.364G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_26..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_T_(CAMBODIA)|HEMOGLOBIN_CLEVELAND|HEMOGLOBIN_D_(AGRI);ALL_PMIDS=1177278|1244906|12709369|15108284|16370495|16540414|19440680|19460936|20437613|20704537|20838957|21119755|2930724|4613830|640855|893136|1787096|11570725;ORIGIN=germline;XREFS=OMIM:141900.0276|OMIM:141900.0407|OMIM:141900.0502;DATES_ORDERED=2016-07-20 -11 5246908 . C T . . START=5246908;STOP=5246908;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15335|15596;RCV=RCV000016577|RCV000016863;SCV=SCV000036846|SCV000037133;ALLELE_ID=30331;SYMBOL=HBB;HGVS_C=NM_000518.4:c.364G>A;HGVS_P=NP_000509.1:p.Glu122Lys;MOLECULAR_CONSEQUENCE=NM_000518.4:c.364G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|other;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_26..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Sickle_cell-Hemoglobin_O_Arab_disease|HEMOGLOBIN_S_(OMAN)|HEMOGLOBIN_O_(TIBESTI);ALL_PMIDS=10203101|1112610|11179419|14282052|15108284|15502081|15543018|15710580|15710581|1732017|18254282|19783722|20704537|20854120|25052315|2930724|3859465|5481775|5915974|6716421|8195007|893136|9049622|9834244|11939508;ORIGIN=germline;XREFS=MedGen:C1264000|OMIM:141900.0245|SNOMED_CT:127048005|OMIM:141900.0507;DATES_ORDERED=1999-04-01|2016-07-20 -11 5246913 . C T . . START=5246913;STOP=5246913;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15165|15262;RCV=RCV000016336|RCV000016486;SCV=SCV000036604|SCV000036754;ALLELE_ID=38469;SYMBOL=HBB;HGVS_C=NM_000518.4:c.359G>A;HGVS_P=NP_000509.1:p.Gly120Asp;MOLECULAR_CONSEQUENCE=NM_000518.4:c.359G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_26..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_FANNIN-LUBBOCK|HEMOGLOBIN_MASUDA;ALL_PMIDS=20942|7852084|2634673;ORIGIN=germline;XREFS=OMIM:141900.0075|OMIM:141900.0172;DATES_ORDERED=2017-02-27|2016-07-20 -11 5246929 . G T . . START=5246929;STOP=5246929;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15262;RCV=RCV000016486;SCV=SCV000036754;ALLELE_ID=30525;SYMBOL=HBB;HGVS_C=NM_000518.4:c.343C>A;HGVS_P=NP_000509.1:p.Leu115Met;MOLECULAR_CONSEQUENCE=NM_000518.4:c.343C>A:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_MASUDA|HEMOGLOBIN_MASUDA;ALL_PMIDS=2634673;ORIGIN=germline;XREFS=OMIM:141900.0172;DATES_ORDERED=2016-07-20 -11 5246938 . C G . . START=5246938;STOP=5246938;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15165;RCV=RCV000016336;SCV=SCV000036604;ALLELE_ID=30204;SYMBOL=HBB;HGVS_C=NM_000518.4:c.334G>C;HGVS_P=NP_000509.1:p.Val112Leu;MOLECULAR_CONSEQUENCE=NM_000518.4:c.334G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_FANNIN-LUBBOCK|HEMOGLOBIN_FANNIN-LUBBOCK;ALL_PMIDS=20942|7852084;ORIGIN=germline;XREFS=OMIM:141900.0075;DATES_ORDERED=2017-02-27 -11 5247827 . C T . . START=5247827;STOP=5247827;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15541;RCV=RCV000016807;SCV=SCV000037077;ALLELE_ID=30280;SYMBOL=HBB;HGVS_C=NM_000518.4:c.295G>A;HGVS_P=NP_000509.1:p.Val99Met;MOLECULAR_CONSEQUENCE=NM_000518.4:c.295G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_24..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_MEDICINE_LAKE|HEMOGLOBIN_MEDICINE_LAKE;ALL_PMIDS=7860732;ORIGIN=germline;XREFS=OMIM:141900.0452;DATES_ORDERED=2016-07-20 -11 5247836 . T C . . START=5247836;STOP=5247836;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15098;RCV=RCV000016251;SCV=SCV000036519;ALLELE_ID=30317;SYMBOL=HBB;HGVS_C=NM_000518.4:c.286A>G;HGVS_P=NP_000509.1:p.Lys96Glu;MOLECULAR_CONSEQUENCE=NM_000518.4:c.286A>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_10..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_ARLINGTON_PARK|HEMOGLOBIN_ARLINGTON_PARK;ALL_PMIDS=893139;ORIGIN=germline;XREFS=OMIM:141900.0010;DATES_ORDERED=2016-07-20 -11 5247842 . A G . . START=5247842;STOP=5247842;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15496;RCV=RCV000016758;SCV=SCV000037028;ALLELE_ID=30336;SYMBOL=HBB;HGVS_C=NM_000518.4:c.280T>C;HGVS_P=NP_000509.1:p.Cys94Arg;MOLECULAR_CONSEQUENCE=NM_000518.4:c.280T>C:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_CLEVELAND|HEMOGLOBIN_CLEVELAND;ALL_PMIDS=1177278|1244906|12709369|15108284|16370495|16540414|1787096|19440680|19460936|20437613|20704537|20838957|21119755|2930724|4613830|640855|893136;ORIGIN=germline;XREFS=OMIM:141900.0407;DATES_ORDERED=2016-07-20 -11 5247844 . T G . . START=5247844;STOP=5247844;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15516;RCV=RCV000016780;SCV=SCV000037050;ALLELE_ID=30326;SYMBOL=HBB;HGVS_C=NM_000518.4:c.278A>C;HGVS_P=NP_000509.1:p.His93Pro;MOLECULAR_CONSEQUENCE=NM_000518.4:c.278A>C:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_DUINO|HEMOGLOBIN_DUINO;ALL_PMIDS=1511986;ORIGIN=germline;XREFS=OMIM:141900.0427;DATES_ORDERED=2016-07-20 -11 5247851 . C T . . START=5247851;STOP=5247851;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15610;RCV=RCV000016877;SCV=SCV000037147;ALLELE_ID=30130;SYMBOL=HBB;HGVS_C=NM_000518.4:c.271G>A;HGVS_P=NP_000509.1:p.Glu91Lys;MOLECULAR_CONSEQUENCE=NM_000518.4:c.271G>A:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_S_(CAMEROON)|HEMOGLOBIN_S_(CAMEROON);ALL_PMIDS=15182055;ORIGIN=germline;XREFS=OMIM:141900.0521;DATES_ORDERED=2004-05-01 -11 5247863 . C G . . START=5247863;STOP=5247863;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15313;RCV=RCV000016553;SCV=SCV000036821;ALLELE_ID=30650;SYMBOL=HBB;HGVS_C=NM_000518.4:c.259G>C;HGVS_P=NP_000509.1:p.Ala87Pro;MOLECULAR_CONSEQUENCE=NM_000518.4:c.259G>C:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_POISSY|HEMOGLOBIN_POISSY;ALL_PMIDS=3841063;ORIGIN=germline;XREFS=OMIM:141900.0223;DATES_ORDERED=2016-07-20 -11 5247902 . C T . . START=5247902;STOP=5247902;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15127;RCV=RCV000016286;SCV=SCV000036554;ALLELE_ID=30283;SYMBOL=HBB;HGVS_C=NM_000518.4:c.220G>A;HGVS_P=NP_000509.1:p.Asp74Asn;MOLECULAR_CONSEQUENCE=NM_000518.4:c.220G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_23..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_ZIGUINCHOR|HEMOGLOBIN_C_(GEORGETOWN);ALL_PMIDS=13943409|5069596|5490239|5928902;ORIGIN=germline;XREFS=OMIM:141900.0039|OMIM:141900.0040;DATES_ORDERED=2017-02-27 -11 5247917 . G A . . START=5247917;STOP=5247917;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15612;RCV=RCV000016879;SCV=SCV000037149;ALLELE_ID=30652;SYMBOL=HBB;HGVS_C=NM_000518.4:c.205C>T;HGVS_P=NP_000509.1:p.Leu69Phe;MOLECULAR_CONSEQUENCE=NM_000518.4:c.205C>T:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_JAMAICA_PLAIN|HEMOGLOBIN_JAMAICA_PLAIN;ALL_PMIDS=15470216|6166632;ORIGIN=germline;XREFS=OMIM:141900.0523;DATES_ORDERED=2017-02-27 -11 5247925 . T A . . START=5247925;STOP=5247925;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15581;RCV=RCV000016848;SCV=SCV000037118;ALLELE_ID=30250;SYMBOL=HBB;HGVS_C=NM_000518.4:c.197A>T;HGVS_P=NP_000509.1:p.Lys66Met;MOLECULAR_CONSEQUENCE=NM_000518.4:c.197A>T:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_CASABLANCA|HEMOGLOBIN_CASABLANCA;ALL_PMIDS=10870883;ORIGIN=germline;XREFS=OMIM:141900.0493;DATES_ORDERED=2016-07-20 -11 5247946 . G C . . START=5247946;STOP=5247946;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15128;RCV=RCV000030905;SCV=SCV000036556;ALLELE_ID=30437;SYMBOL=HBB;HGVS_C=NM_000518.4:c.176C>G;HGVS_P=NP_000509.1:p.Pro59Arg;MOLECULAR_CONSEQUENCE=NM_000518.4:c.176C>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_ZIGUINCHOR|HEMOGLOBIN_C_(ZIGUINCHOR);ALL_PMIDS=1225575|893143;ORIGIN=germline;XREFS=OMIM:141900.0039|OMIM:141900.0040;DATES_ORDERED=2016-07-20 -11 5247953 . C G . . START=5247953;STOP=5247953;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15313;RCV=RCV000016553;SCV=SCV000036821;ALLELE_ID=30227;SYMBOL=HBB;HGVS_C=NM_000518.4:c.169G>C;HGVS_P=NP_000509.1:p.Gly57Arg;MOLECULAR_CONSEQUENCE=NM_000518.4:c.169G>C:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_POISSY|HEMOGLOBIN_POISSY;ALL_PMIDS=3841063;ORIGIN=germline;XREFS=OMIM:141900.0223;DATES_ORDERED=2016-07-20 -11 5247965 . C T . . START=5247965;STOP=5247965;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15497;RCV=RCV000016759;SCV=SCV000037029;ALLELE_ID=30341;SYMBOL=HBB;HGVS_C=NM_000518.4:c.157G>A;HGVS_P=NP_000509.1:p.Asp53Asn;MOLECULAR_CONSEQUENCE=NM_000518.4:c.157G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_GRENOBLE|HEMOGLOBIN_GRENOBLE;ALL_PMIDS=10335988|15008267|16178917|18932067|2079433|5097135|640855;ORIGIN=germline;XREFS=OMIM:141900.0408;DATES_ORDERED=2016-07-20 -11 5247968 . G A . . START=5247968;STOP=5247968;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15497;RCV=RCV000016759;SCV=SCV000037029;ALLELE_ID=30536;SYMBOL=HBB;HGVS_C=NM_000518.4:c.154C>T;HGVS_P=NP_000509.1:p.Pro52Ser;MOLECULAR_CONSEQUENCE=NM_000518.4:c.154C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_GRENOBLE|HEMOGLOBIN_GRENOBLE;ALL_PMIDS=10335988|15008267|16178917|18932067|2079433|5097135|640855;ORIGIN=germline;XREFS=OMIM:141900.0408;DATES_ORDERED=2016-07-20 -11 5248024 . A T . . START=5248024;STOP=5248024;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15541;RCV=RCV000016807;SCV=SCV000037077;ALLELE_ID=30572;SYMBOL=HBB;HGVS_C=NM_000518.4:c.98T>A;HGVS_P=NP_000509.1:p.Leu33Gln;MOLECULAR_CONSEQUENCE=NM_000518.4:c.98T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_MEDICINE_LAKE|HEMOGLOBIN_MEDICINE_LAKE;ALL_PMIDS=7860732;ORIGIN=germline;XREFS=OMIM:141900.0452;DATES_ORDERED=2016-07-20 -11 5248173 . C T . . START=5248173;STOP=5248173;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15366;RCV=RCV000016617;SCV=SCV000036886;ALLELE_ID=30200;SYMBOL=HBB;HGVS_C=NM_000518.4:c.79G>A;HGVS_P=NP_000509.1:p.Glu27Lys;MOLECULAR_CONSEQUENCE=NM_000518.4:c.79G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other..protective;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_16..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_T_(CAMBODIA)|HEMOGLOBIN_T_(CAMBODIA);ALL_PMIDS=1177278|1244906|12709369|15108284|16370495|16540414|19440680|19460936|20437613|20704537|20838957|21119755|2930724|4613830|640855|893136;ORIGIN=germline;XREFS=OMIM:141900.0276;DATES_ORDERED=2016-07-20 -11 5248182 . C T . . START=5248182;STOP=5248182;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15334;RCV=RCV000016576;SCV=SCV000036845;ALLELE_ID=38470;SYMBOL=HBB;HGVS_C=NM_000518.4:c.70G>A;HGVS_P=NP_000509.1:p.Val24Ile;MOLECULAR_CONSEQUENCE=NM_000518.4:c.70G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_S_(ANTILLES)|HEMOGLOBIN_S_(ANTILLES);ALL_PMIDS=2189492|3467311|9166865;ORIGIN=germline;XREFS=OMIM:141900.0244;DATES_ORDERED=1997-06-01 -11 5248218 . C T . . START=5248218;STOP=5248218;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15596;RCV=RCV000016863;SCV=SCV000037133;ALLELE_ID=30228;SYMBOL=HBB;HGVS_C=NM_000518.4:c.34G>A;HGVS_P=NP_000509.1:p.Val12Ile;MOLECULAR_CONSEQUENCE=NM_000518.4:c.34G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_12..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_O_(TIBESTI)|HEMOGLOBIN_O_(TIBESTI);ALL_PMIDS=1112610|11179419|11939508|14282052|15108284|15502081|15543018|15710580|15710581|1732017|18254282|19783722|20704537|20854120|2930724|3859465|5481775|5915974|6716421|8195007|893136|9049622|9834244;ORIGIN=germline;XREFS=OMIM:141900.0507;DATES_ORDERED=2016-07-20 -11 5248223 . G T . . START=5248223;STOP=5248223;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15591;RCV=RCV000016858;SCV=SCV000037128;ALLELE_ID=30658;SYMBOL=HBB;HGVS_C=NM_000518.4:c.29C>A;HGVS_P=NP_000509.1:p.Ser10Tyr;MOLECULAR_CONSEQUENCE=NM_000518.4:c.29C>A:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_D_(AGRI)|HEMOGLOBIN_D_(AGRI);ALL_PMIDS=11570725|1177278|1244906|12709369|15108284|16370495|16540414|19440680|19460936|20437613|20704537|20838957|21119755|2930724|4613830|640855|893136;ORIGIN=germline;XREFS=OMIM:141900.0502;DATES_ORDERED=2016-07-20 -11 5248232 . T A . . START=5248232;STOP=5248232;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15127|15128|15334|15335|15336|15337|15610|15612;RCV=RCV000016286|RCV000030905|RCV000016576|RCV000016577|RCV000016579|RCV000016580|RCV000016877|RCV000016879;SCV=SCV000036554|SCV000036556|SCV000036845|SCV000036846|SCV000036848|SCV000036849|SCV000037147|SCV000037149;ALLELE_ID=30372;SYMBOL=HBB;HGVS_C=NM_000518.4:c.20A>T;HGVS_P=NP_000509.1:p.Glu7Val;MOLECULAR_CONSEQUENCE=NM_000518.4:c.20A>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other..protective;CLINICAL_SIGNIFICANCE_ORDERED=other|pathogenic;PATHOGENIC=5;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_26..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_ZIGUINCHOR|HEMOGLOBIN_C_(GEORGETOWN)|HEMOGLOBIN_C_(ZIGUINCHOR)|HEMOGLOBIN_S_(ANTILLES)|Sickle_cell-Hemoglobin_O_Arab_disease|HEMOGLOBIN_S_(OMAN)|HEMOGLOBIN_S_(PROVIDENCE)|HEMOGLOBIN_S_(TRAVIS)|HEMOGLOBIN_S_(CAMEROON)|HEMOGLOBIN_JAMAICA_PLAIN;ALL_PMIDS=13943409|5069596|5490239|5928902|1225575|893143|2189492|3467311|9166865|10203101|1112610|11179419|14282052|15108284|15502081|15543018|15710580|15710581|1732017|18254282|19783722|20704537|20854120|25052315|2930724|3859465|5481775|5915974|6716421|8195007|893136|9049622|9834244|3191036|1634360|19257|15182055|15470216|6166632;ORIGIN=germline;XREFS=OMIM:141900.0039|OMIM:141900.0040|OMIM:141900.0244|MedGen:C1264000|OMIM:141900.0245|SNOMED_CT:127048005|OMIM:141900.0246|OMIM:141900.0247|OMIM:141900.0521|OMIM:141900.0523;DATES_ORDERED=2017-02-27|2016-07-20|1997-06-01|1999-04-01|1988-10-01|1992-01-01|2004-05-01 -11 5248233 . C T . . START=5248233;STOP=5248233;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15098;RCV=RCV000016251;SCV=SCV000036519;ALLELE_ID=30165;SYMBOL=HBB;HGVS_C=NM_000518.4:c.19G>A;HGVS_P=NP_000509.1:p.Glu7Lys;MOLECULAR_CONSEQUENCE=NM_000518.4:c.19G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..protective;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_ARLINGTON_PARK|HEMOGLOBIN_ARLINGTON_PARK;ALL_PMIDS=893139;ORIGIN=germline;XREFS=OMIM:141900.0010;DATES_ORDERED=2016-07-20 -11 5269623 . G C . . START=5269623;STOP=5269623;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15036;RCV=RCV000016180;SCV=SCV000036448;ALLELE_ID=38468;SYMBOL=HBG1;HGVS_C=NM_000559.2:c.410C>G;HGVS_P=NP_000550.2:p.Ala137Gly;MOLECULAR_CONSEQUENCE=NM_000559.2:c.410C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_15..2011;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_F_(CHARLOTTE)|HEMOGLOBIN_F_(CHARLOTTE);ALL_PMIDS=1714434;ORIGIN=germline;XREFS=OMIM:142200.0032;DATES_ORDERED=2011-07-15 -11 5269624 . C A . . START=5269624;STOP=5269624;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15041;RCV=RCV000016185;SCV=SCV000036453;ALLELE_ID=30080;SYMBOL=HBG1;HGVS_C=NM_000559.2:c.409G>T;HGVS_P=NP_000550.2:p.Ala137Ser;MOLECULAR_CONSEQUENCE=NM_000559.2:c.409G>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_18..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_F_(PORTO_TORRES)|HEMOGLOBIN_F_(PORTO_TORRES);ALL_PMIDS=15666429;ORIGIN=germline;XREFS=OMIM:142200.0037;DATES_ORDERED=2016-08-18 -11 5270686 . G A . . START=5270686;STOP=5270686;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=15036|15041;RCV=RCV000016180|RCV000016185;SCV=SCV000036448|SCV000036453;ALLELE_ID=30044;SYMBOL=HBG1;HGVS_C=NM_000559.2:c.227C>T;HGVS_P=NP_000550.2:p.Thr76Ile;MOLECULAR_CONSEQUENCE=NM_000559.2:c.227C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_18..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_F_(CHARLOTTE)|HEMOGLOBIN_F_(PORTO_TORRES);ALL_PMIDS=1714434|15666429;ORIGIN=germline;XREFS=OMIM:142200.0032|OMIM:142200.0037;DATES_ORDERED=2011-07-15|2016-08-18 +11 2593319 . G A . . START=2593319;STOP=2593319;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=444879;RCV=RCV000003296;SCV=SCV000023454;ALLELE_ID=18157;SYMBOL=KCNQ1;HGVS_C=NM_000218.2:c.760G>A;HGVS_P=NP_000209.2:p.Val254Met;MOLECULAR_CONSEQUENCE=NM_000218.2:c.760G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_29..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Long_QT_syndrome_1|LONG_QT_SYNDROME_1;ALL_PMIDS=10973849|12820704|14678125|1475667|14756674|20301308|21810866|23788249|25356965|27854360|8528244|9386136;ORIGIN=germline;XREFS=GeneReviews:NBK1129|Genetic_Alliance:Long+QT+syndrome+1/4297|MedGen:C0035828|OMIM:192500|Office_of_Rare_Diseases:3284|Orphanet:101016|Orphanet:768|SNOMED_CT:20852007;DATES_ORDERED=2004-03-01 +11 2608920 . G A . . START=2608920;STOP=2608920;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=444879;RCV=RCV000003296;SCV=SCV000023454;ALLELE_ID=38428;SYMBOL=KCNQ1;HGVS_C=NM_181798.1:c.868G>A;HGVS_P=NP_000209.2:p.Val417Met;MOLECULAR_CONSEQUENCE=NM_000218.2:c.1249G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..2004;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Long_QT_syndrome_1|LONG_QT_SYNDROME_1;ALL_PMIDS=10973849|12820704|14678125|1475667|14756674|20301308|21810866|23788249|25356965|27854360|8528244|9386136;ORIGIN=germline;XREFS=GeneReviews:NBK1129|Genetic_Alliance:Long+QT+syndrome+1/4297|MedGen:C0035828|OMIM:192500|Office_of_Rare_Diseases:3284|Orphanet:101016|Orphanet:768|SNOMED_CT:20852007;DATES_ORDERED=2004-03-01 +11 5246839 . T A . . START=5246839;STOP=5246839;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446749;RCV=RCV000016884;SCV=SCV000037154;ALLELE_ID=38409;SYMBOL=HBB;HGVS_C=NM_000518.4:c.433A>T;HGVS_P=NP_000509.1:p.Lys145Ter;MOLECULAR_CONSEQUENCE=NM_000518.4:c.433A>T:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_KOCHI|HEMOGLOBIN_KOCHI;ALL_PMIDS=15768550;ORIGIN=germline;XREFS=OMIM:141900.0532;DATES_ORDERED=2016-07-20 +11 5246844 . G A . . START=5246844;STOP=5246844;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446738;RCV=RCV000016580;SCV=SCV000036849;ALLELE_ID=38472;SYMBOL=HBB;HGVS_C=NM_000518.4:c.428C>T;HGVS_P=NP_000509.1:p.Ala143Val;MOLECULAR_CONSEQUENCE=NM_000518.4:c.428C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..1992;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_S_(TRAVIS)|HEMOGLOBIN_S_(TRAVIS);ALL_PMIDS=1634360|19257;ORIGIN=germline;XREFS=OMIM:141900.0247;DATES_ORDERED=1992-01-01 +11 5246848 . G C . . START=5246848;STOP=5246848;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446749;RCV=RCV000016884;SCV=SCV000037154;ALLELE_ID=30656;SYMBOL=HBB;HGVS_C=NM_000518.4:c.424C>G;HGVS_P=NP_000509.1:p.Leu142Val;MOLECULAR_CONSEQUENCE=NM_000518.4:c.424C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_KOCHI|HEMOGLOBIN_KOCHI;ALL_PMIDS=15768550;ORIGIN=germline;XREFS=OMIM:141900.0532;DATES_ORDERED=2016-07-20 +11 5246905 . A G . . START=5246905;STOP=5246905;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446744;RCV=RCV000016848;SCV=SCV000037118;ALLELE_ID=30619;SYMBOL=HBB;HGVS_C=NM_000518.4:c.367T>C;HGVS_P=NP_000509.1:p.Phe123Leu;MOLECULAR_CONSEQUENCE=NM_000518.4:c.367T>C:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_CASABLANCA|HEMOGLOBIN_CASABLANCA;ALL_PMIDS=10870883;ORIGIN=germline;XREFS=OMIM:141900.0493;DATES_ORDERED=2016-07-20 +11 5246908 . C G . . START=5246908;STOP=5246908;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446739|446740|446745;RCV=RCV000016617|RCV000016758|RCV000016858;SCV=SCV000036886|SCV000037028|SCV000037128;ALLELE_ID=30191;SYMBOL=HBB;HGVS_C=NM_000518.4:c.364G>C;HGVS_P=NP_000509.1:p.Glu122Gln;MOLECULAR_CONSEQUENCE=NM_000518.4:c.364G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_26..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_T_(CAMBODIA)|HEMOGLOBIN_CLEVELAND|HEMOGLOBIN_D_(AGRI);ALL_PMIDS=1177278|1244906|12709369|15108284|16370495|16540414|19440680|19460936|20437613|20704537|20838957|21119755|2930724|4613830|640855|893136|1787096|11570725;ORIGIN=germline;XREFS=OMIM:141900.0276|OMIM:141900.0407|OMIM:141900.0502;DATES_ORDERED=2016-07-20 +11 5246908 . C T . . START=5246908;STOP=5246908;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446736|446746;RCV=RCV000016577|RCV000016863;SCV=SCV000036846|SCV000037133;ALLELE_ID=30331;SYMBOL=HBB;HGVS_C=NM_000518.4:c.364G>A;HGVS_P=NP_000509.1:p.Glu122Lys;MOLECULAR_CONSEQUENCE=NM_000518.4:c.364G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|other;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_26..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Sickle_cell-Hemoglobin_O_Arab_disease|HEMOGLOBIN_S_(OMAN)|HEMOGLOBIN_O_(TIBESTI);ALL_PMIDS=10203101|1112610|11179419|14282052|15108284|15502081|15543018|15710580|15710581|1732017|18254282|19783722|20704537|20854120|25052315|2930724|3859465|5481775|5915974|6716421|8195007|893136|9049622|9834244|11939508;ORIGIN=germline;XREFS=MedGen:C1264000|OMIM:141900.0245|SNOMED_CT:127048005|OMIM:141900.0507;DATES_ORDERED=1999-04-01|2016-07-20 +11 5246913 . C T . . START=5246913;STOP=5246913;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446732|446733;RCV=RCV000016336|RCV000016486;SCV=SCV000036604|SCV000036754;ALLELE_ID=38469;SYMBOL=HBB;HGVS_C=NM_000518.4:c.359G>A;HGVS_P=NP_000509.1:p.Gly120Asp;MOLECULAR_CONSEQUENCE=NM_000518.4:c.359G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_26..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_FANNIN-LUBBOCK|HEMOGLOBIN_MASUDA;ALL_PMIDS=20942|7852084|2634673;ORIGIN=germline;XREFS=OMIM:141900.0075|OMIM:141900.0172;DATES_ORDERED=2017-02-27|2016-07-20 +11 5246929 . G T . . START=5246929;STOP=5246929;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446733;RCV=RCV000016486;SCV=SCV000036754;ALLELE_ID=30525;SYMBOL=HBB;HGVS_C=NM_000518.4:c.343C>A;HGVS_P=NP_000509.1:p.Leu115Met;MOLECULAR_CONSEQUENCE=NM_000518.4:c.343C>A:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_MASUDA|HEMOGLOBIN_MASUDA;ALL_PMIDS=2634673;ORIGIN=germline;XREFS=OMIM:141900.0172;DATES_ORDERED=2016-07-20 +11 5246938 . C G . . START=5246938;STOP=5246938;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446732;RCV=RCV000016336;SCV=SCV000036604;ALLELE_ID=30204;SYMBOL=HBB;HGVS_C=NM_000518.4:c.334G>C;HGVS_P=NP_000509.1:p.Val112Leu;MOLECULAR_CONSEQUENCE=NM_000518.4:c.334G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_FANNIN-LUBBOCK|HEMOGLOBIN_FANNIN-LUBBOCK;ALL_PMIDS=20942|7852084;ORIGIN=germline;XREFS=OMIM:141900.0075;DATES_ORDERED=2017-02-27 +11 5247827 . C T . . START=5247827;STOP=5247827;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446743;RCV=RCV000016807;SCV=SCV000037077;ALLELE_ID=30280;SYMBOL=HBB;HGVS_C=NM_000518.4:c.295G>A;HGVS_P=NP_000509.1:p.Val99Met;MOLECULAR_CONSEQUENCE=NM_000518.4:c.295G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_24..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_MEDICINE_LAKE|HEMOGLOBIN_MEDICINE_LAKE;ALL_PMIDS=7860732;ORIGIN=germline;XREFS=OMIM:141900.0452;DATES_ORDERED=2016-07-20 +11 5247836 . T C . . START=5247836;STOP=5247836;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446729;RCV=RCV000016251;SCV=SCV000036519;ALLELE_ID=30317;SYMBOL=HBB;HGVS_C=NM_000518.4:c.286A>G;HGVS_P=NP_000509.1:p.Lys96Glu;MOLECULAR_CONSEQUENCE=NM_000518.4:c.286A>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_10..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_ARLINGTON_PARK|HEMOGLOBIN_ARLINGTON_PARK;ALL_PMIDS=893139;ORIGIN=germline;XREFS=OMIM:141900.0010;DATES_ORDERED=2016-07-20 +11 5247842 . A G . . START=5247842;STOP=5247842;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446740;RCV=RCV000016758;SCV=SCV000037028;ALLELE_ID=30336;SYMBOL=HBB;HGVS_C=NM_000518.4:c.280T>C;HGVS_P=NP_000509.1:p.Cys94Arg;MOLECULAR_CONSEQUENCE=NM_000518.4:c.280T>C:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_CLEVELAND|HEMOGLOBIN_CLEVELAND;ALL_PMIDS=1177278|1244906|12709369|15108284|16370495|16540414|1787096|19440680|19460936|20437613|20704537|20838957|21119755|2930724|4613830|640855|893136;ORIGIN=germline;XREFS=OMIM:141900.0407;DATES_ORDERED=2016-07-20 +11 5247844 . T G . . START=5247844;STOP=5247844;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446742;RCV=RCV000016780;SCV=SCV000037050;ALLELE_ID=30326;SYMBOL=HBB;HGVS_C=NM_000518.4:c.278A>C;HGVS_P=NP_000509.1:p.His93Pro;MOLECULAR_CONSEQUENCE=NM_000518.4:c.278A>C:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_DUINO|HEMOGLOBIN_DUINO;ALL_PMIDS=1511986;ORIGIN=germline;XREFS=OMIM:141900.0427;DATES_ORDERED=2016-07-20 +11 5247851 . C T . . START=5247851;STOP=5247851;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446747;RCV=RCV000016877;SCV=SCV000037147;ALLELE_ID=30130;SYMBOL=HBB;HGVS_C=NM_000518.4:c.271G>A;HGVS_P=NP_000509.1:p.Glu91Lys;MOLECULAR_CONSEQUENCE=NM_000518.4:c.271G>A:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_S_(CAMEROON)|HEMOGLOBIN_S_(CAMEROON);ALL_PMIDS=15182055;ORIGIN=germline;XREFS=OMIM:141900.0521;DATES_ORDERED=2004-05-01 +11 5247863 . C G . . START=5247863;STOP=5247863;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446734;RCV=RCV000016553;SCV=SCV000036821;ALLELE_ID=30650;SYMBOL=HBB;HGVS_C=NM_000518.4:c.259G>C;HGVS_P=NP_000509.1:p.Ala87Pro;MOLECULAR_CONSEQUENCE=NM_000518.4:c.259G>C:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_POISSY|HEMOGLOBIN_POISSY;ALL_PMIDS=3841063;ORIGIN=germline;XREFS=OMIM:141900.0223;DATES_ORDERED=2016-07-20 +11 5247902 . C T . . START=5247902;STOP=5247902;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446730;RCV=RCV000016286;SCV=SCV000036554;ALLELE_ID=30283;SYMBOL=HBB;HGVS_C=NM_000518.4:c.220G>A;HGVS_P=NP_000509.1:p.Asp74Asn;MOLECULAR_CONSEQUENCE=NM_000518.4:c.220G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_23..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_ZIGUINCHOR|HEMOGLOBIN_C_(GEORGETOWN);ALL_PMIDS=13943409|5069596|5490239|5928902;ORIGIN=germline;XREFS=OMIM:141900.0039|OMIM:141900.0040;DATES_ORDERED=2017-02-27 +11 5247917 . G A . . START=5247917;STOP=5247917;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446748;RCV=RCV000016879;SCV=SCV000037149;ALLELE_ID=30652;SYMBOL=HBB;HGVS_C=NM_000518.4:c.205C>T;HGVS_P=NP_000509.1:p.Leu69Phe;MOLECULAR_CONSEQUENCE=NM_000518.4:c.205C>T:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_JAMAICA_PLAIN|HEMOGLOBIN_JAMAICA_PLAIN;ALL_PMIDS=15470216|6166632;ORIGIN=germline;XREFS=OMIM:141900.0523;DATES_ORDERED=2017-02-27 +11 5247925 . T A . . START=5247925;STOP=5247925;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446744;RCV=RCV000016848;SCV=SCV000037118;ALLELE_ID=30250;SYMBOL=HBB;HGVS_C=NM_000518.4:c.197A>T;HGVS_P=NP_000509.1:p.Lys66Met;MOLECULAR_CONSEQUENCE=NM_000518.4:c.197A>T:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_CASABLANCA|HEMOGLOBIN_CASABLANCA;ALL_PMIDS=10870883;ORIGIN=germline;XREFS=OMIM:141900.0493;DATES_ORDERED=2016-07-20 +11 5247946 . G C . . START=5247946;STOP=5247946;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446731;RCV=RCV000030905;SCV=SCV000036556;ALLELE_ID=30437;SYMBOL=HBB;HGVS_C=NM_000518.4:c.176C>G;HGVS_P=NP_000509.1:p.Pro59Arg;MOLECULAR_CONSEQUENCE=NM_000518.4:c.176C>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_ZIGUINCHOR|HEMOGLOBIN_C_(ZIGUINCHOR);ALL_PMIDS=1225575|893143;ORIGIN=germline;XREFS=OMIM:141900.0039|OMIM:141900.0040;DATES_ORDERED=2016-07-20 +11 5247953 . C G . . START=5247953;STOP=5247953;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446734;RCV=RCV000016553;SCV=SCV000036821;ALLELE_ID=30227;SYMBOL=HBB;HGVS_C=NM_000518.4:c.169G>C;HGVS_P=NP_000509.1:p.Gly57Arg;MOLECULAR_CONSEQUENCE=NM_000518.4:c.169G>C:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_POISSY|HEMOGLOBIN_POISSY;ALL_PMIDS=3841063;ORIGIN=germline;XREFS=OMIM:141900.0223;DATES_ORDERED=2016-07-20 +11 5247965 . C T . . START=5247965;STOP=5247965;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446741;RCV=RCV000016759;SCV=SCV000037029;ALLELE_ID=30341;SYMBOL=HBB;HGVS_C=NM_000518.4:c.157G>A;HGVS_P=NP_000509.1:p.Asp53Asn;MOLECULAR_CONSEQUENCE=NM_000518.4:c.157G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_GRENOBLE|HEMOGLOBIN_GRENOBLE;ALL_PMIDS=10335988|15008267|16178917|18932067|2079433|5097135|640855;ORIGIN=germline;XREFS=OMIM:141900.0408;DATES_ORDERED=2016-07-20 +11 5247968 . G A . . START=5247968;STOP=5247968;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446741;RCV=RCV000016759;SCV=SCV000037029;ALLELE_ID=30536;SYMBOL=HBB;HGVS_C=NM_000518.4:c.154C>T;HGVS_P=NP_000509.1:p.Pro52Ser;MOLECULAR_CONSEQUENCE=NM_000518.4:c.154C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_GRENOBLE|HEMOGLOBIN_GRENOBLE;ALL_PMIDS=10335988|15008267|16178917|18932067|2079433|5097135|640855;ORIGIN=germline;XREFS=OMIM:141900.0408;DATES_ORDERED=2016-07-20 +11 5248024 . A T . . START=5248024;STOP=5248024;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446743;RCV=RCV000016807;SCV=SCV000037077;ALLELE_ID=30572;SYMBOL=HBB;HGVS_C=NM_000518.4:c.98T>A;HGVS_P=NP_000509.1:p.Leu33Gln;MOLECULAR_CONSEQUENCE=NM_000518.4:c.98T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_MEDICINE_LAKE|HEMOGLOBIN_MEDICINE_LAKE;ALL_PMIDS=7860732;ORIGIN=germline;XREFS=OMIM:141900.0452;DATES_ORDERED=2016-07-20 +11 5248173 . C T . . START=5248173;STOP=5248173;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446739;RCV=RCV000016617;SCV=SCV000036886;ALLELE_ID=30200;SYMBOL=HBB;HGVS_C=NM_000518.4:c.79G>A;HGVS_P=NP_000509.1:p.Glu27Lys;MOLECULAR_CONSEQUENCE=NM_000518.4:c.79G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other..protective;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_23..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_T_(CAMBODIA)|HEMOGLOBIN_T_(CAMBODIA);ALL_PMIDS=1177278|1244906|12709369|15108284|16370495|16540414|19440680|19460936|20437613|20704537|20838957|21119755|2930724|4613830|640855|893136;ORIGIN=germline;XREFS=OMIM:141900.0276;DATES_ORDERED=2016-07-20 +11 5248182 . C T . . START=5248182;STOP=5248182;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446735;RCV=RCV000016576;SCV=SCV000036845;ALLELE_ID=38470;SYMBOL=HBB;HGVS_C=NM_000518.4:c.70G>A;HGVS_P=NP_000509.1:p.Val24Ile;MOLECULAR_CONSEQUENCE=NM_000518.4:c.70G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_S_(ANTILLES)|HEMOGLOBIN_S_(ANTILLES);ALL_PMIDS=2189492|3467311|9166865;ORIGIN=germline;XREFS=OMIM:141900.0244;DATES_ORDERED=1997-06-01 +11 5248218 . C T . . START=5248218;STOP=5248218;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446746;RCV=RCV000016863;SCV=SCV000037133;ALLELE_ID=30228;SYMBOL=HBB;HGVS_C=NM_000518.4:c.34G>A;HGVS_P=NP_000509.1:p.Val12Ile;MOLECULAR_CONSEQUENCE=NM_000518.4:c.34G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_12..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_O_(TIBESTI)|HEMOGLOBIN_O_(TIBESTI);ALL_PMIDS=1112610|11179419|11939508|14282052|15108284|15502081|15543018|15710580|15710581|1732017|18254282|19783722|20704537|20854120|2930724|3859465|5481775|5915974|6716421|8195007|893136|9049622|9834244;ORIGIN=germline;XREFS=OMIM:141900.0507;DATES_ORDERED=2016-07-20 +11 5248223 . G T . . START=5248223;STOP=5248223;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446745;RCV=RCV000016858;SCV=SCV000037128;ALLELE_ID=30658;SYMBOL=HBB;HGVS_C=NM_000518.4:c.29C>A;HGVS_P=NP_000509.1:p.Ser10Tyr;MOLECULAR_CONSEQUENCE=NM_000518.4:c.29C>A:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_D_(AGRI)|HEMOGLOBIN_D_(AGRI);ALL_PMIDS=11570725|1177278|1244906|12709369|15108284|16370495|16540414|19440680|19460936|20437613|20704537|20838957|21119755|2930724|4613830|640855|893136;ORIGIN=germline;XREFS=OMIM:141900.0502;DATES_ORDERED=2016-07-20 +11 5248232 . T A . . START=5248232;STOP=5248232;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446730|446731|446735|446736|446737|446738|446747|446748;RCV=RCV000016286|RCV000030905|RCV000016576|RCV000016577|RCV000016579|RCV000016580|RCV000016877|RCV000016879;SCV=SCV000036554|SCV000036556|SCV000036845|SCV000036846|SCV000036848|SCV000036849|SCV000037147|SCV000037149;ALLELE_ID=30372;SYMBOL=HBB;HGVS_C=NM_000518.4:c.20A>T;HGVS_P=NP_000509.1:p.Glu7Val;MOLECULAR_CONSEQUENCE=NM_000518.4:c.20A>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other..protective;CLINICAL_SIGNIFICANCE_ORDERED=other|pathogenic;PATHOGENIC=5;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_11..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_ZIGUINCHOR|HEMOGLOBIN_C_(GEORGETOWN)|HEMOGLOBIN_C_(ZIGUINCHOR)|HEMOGLOBIN_S_(ANTILLES)|Sickle_cell-Hemoglobin_O_Arab_disease|HEMOGLOBIN_S_(OMAN)|HEMOGLOBIN_S_(PROVIDENCE)|HEMOGLOBIN_S_(TRAVIS)|HEMOGLOBIN_S_(CAMEROON)|HEMOGLOBIN_JAMAICA_PLAIN;ALL_PMIDS=13943409|5069596|5490239|5928902|1225575|893143|2189492|3467311|9166865|10203101|1112610|11179419|14282052|15108284|15502081|15543018|15710580|15710581|1732017|18254282|19783722|20704537|20854120|25052315|2930724|3859465|5481775|5915974|6716421|8195007|893136|9049622|9834244|3191036|1634360|19257|15182055|15470216|6166632;ORIGIN=germline;XREFS=OMIM:141900.0039|OMIM:141900.0040|OMIM:141900.0244|MedGen:C1264000|OMIM:141900.0245|SNOMED_CT:127048005|OMIM:141900.0246|OMIM:141900.0247|OMIM:141900.0521|OMIM:141900.0523;DATES_ORDERED=2017-02-27|2016-07-20|1997-06-01|1999-04-01|1988-10-01|1992-01-01|2004-05-01 +11 5248233 . C T . . START=5248233;STOP=5248233;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446729;RCV=RCV000016251;SCV=SCV000036519;ALLELE_ID=30165;SYMBOL=HBB;HGVS_C=NM_000518.4:c.19G>A;HGVS_P=NP_000509.1:p.Glu7Lys;MOLECULAR_CONSEQUENCE=NM_000518.4:c.19G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..protective;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_ARLINGTON_PARK|HEMOGLOBIN_ARLINGTON_PARK;ALL_PMIDS=893139;ORIGIN=germline;XREFS=OMIM:141900.0010;DATES_ORDERED=2016-07-20 +11 5269623 . G C . . START=5269623;STOP=5269623;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446751;RCV=RCV000016180;SCV=SCV000036448;ALLELE_ID=38468;SYMBOL=HBG1;HGVS_C=NM_000559.2:c.410C>G;HGVS_P=NP_000550.2:p.Ala137Gly;MOLECULAR_CONSEQUENCE=NM_000559.2:c.410C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_15..2011;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_F_(CHARLOTTE)|HEMOGLOBIN_F_(CHARLOTTE);ALL_PMIDS=1714434;ORIGIN=germline;XREFS=OMIM:142200.0032;DATES_ORDERED=2011-07-15 +11 5269624 . C A . . START=5269624;STOP=5269624;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446752;RCV=RCV000016185;SCV=SCV000036453;ALLELE_ID=30080;SYMBOL=HBG1;HGVS_C=NM_000559.2:c.409G>T;HGVS_P=NP_000550.2:p.Ala137Ser;MOLECULAR_CONSEQUENCE=NM_000559.2:c.409G>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_18..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_F_(PORTO_TORRES)|HEMOGLOBIN_F_(PORTO_TORRES);ALL_PMIDS=15666429;ORIGIN=germline;XREFS=OMIM:142200.0037;DATES_ORDERED=2016-08-18 +11 5270686 . G A . . START=5270686;STOP=5270686;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446751|446752;RCV=RCV000016180|RCV000016185;SCV=SCV000036448|SCV000036453;ALLELE_ID=30044;SYMBOL=HBG1;HGVS_C=NM_000559.2:c.227C>T;HGVS_P=NP_000550.2:p.Thr76Ile;MOLECULAR_CONSEQUENCE=NM_000559.2:c.227C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_18..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_F_(CHARLOTTE)|HEMOGLOBIN_F_(PORTO_TORRES);ALL_PMIDS=1714434|15666429;ORIGIN=germline;XREFS=OMIM:142200.0032|OMIM:142200.0037;DATES_ORDERED=2011-07-15|2016-08-18 11 36596373 . C T . . START=36596373;STOP=36596373;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13157;RCV=RCV000014043;SCV=SCV000034290;ALLELE_ID=28196;SYMBOL=RAG1;HGVS_C=NM_000448.2:c.1519C>T;HGVS_P=NP_000439.1:p.Arg507Trp;MOLECULAR_CONSEQUENCE=NM_000448.2:c.1519C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_08..2008;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Combined_cellular_and_humoral_immune_defects_with_granulomas|COMBINED_CELLULAR_AND_HUMORAL_IMMUNE_DEFECTS_WITH_GRANULOMAS;ALL_PMIDS=18463379;ORIGIN=germline;XREFS=Genetic_Alliance:Combined+cellular+and+humoral+immune+defects+with+granulomas/8008|MedGen:C2673536|OMIM:233650;DATES_ORDERED=2008-05-08 -11 36597064 . G A . . START=36597064;STOP=36597064;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13157;RCV=RCV000014043;SCV=SCV000034290;ALLELE_ID=28188;SYMBOL=RAG1;HGVS_C=NM_000448.2:c.2210G>A;HGVS_P=NP_000439.1:p.Arg737His;MOLECULAR_CONSEQUENCE=NM_000448.2:c.2210G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_08..2008;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Combined_cellular_and_humoral_immune_defects_with_granulomas|COMBINED_CELLULAR_AND_HUMORAL_IMMUNE_DEFECTS_WITH_GRANULOMAS;ALL_PMIDS=18463379;ORIGIN=germline;XREFS=Genetic_Alliance:Combined+cellular+and+humoral+immune+defects+with+granulomas/8008|MedGen:C2673536|OMIM:233650;DATES_ORDERED=2008-05-08 +11 36597064 . G A . . START=36597064;STOP=36597064;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13157;RCV=RCV000014043;SCV=SCV000034290;ALLELE_ID=28188;SYMBOL=RAG1;HGVS_C=NM_000448.2:c.2210G>A;HGVS_P=NP_000439.1:p.Arg737His;MOLECULAR_CONSEQUENCE=NM_000448.2:c.2210G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_08..2008;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Combined_cellular_and_humoral_immune_defects_with_granulomas|COMBINED_CELLULAR_AND_HUMORAL_IMMUNE_DEFECTS_WITH_GRANULOMAS;ALL_PMIDS=18463379;ORIGIN=germline;XREFS=Genetic_Alliance:Combined+cellular+and+humoral+immune+defects+with+granulomas/8008|MedGen:C2673536|OMIM:233650;DATES_ORDERED=2008-05-08 11 44129522 . T G . . START=44129522;STOP=44129522;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=218894;RCV=RCV000203245;SCV=SCV000258309;ALLELE_ID=137950;SYMBOL=EXT2;HGVS_C=NM_000401.3:c.359T>G;HGVS_P=NP_997005.1:p.Met87Arg;MOLECULAR_CONSEQUENCE=NM_207122.1:c.260T>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Seizures..scoliosis..and_macrocephaly_syndrome|SEIZURES..SCOLIOSIS..AND_MACROCEPHALY_SYNDROME_(1_family);ALL_PMIDS=26246518;ORIGIN=germline;XREFS=MedGen:C4225248|OMIM:616682;DATES_ORDERED=2015-10-01 11 44129545 . C T . . START=44129545;STOP=44129545;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=218894;RCV=RCV000203245;SCV=SCV000258309;ALLELE_ID=215653;SYMBOL=EXT2;HGVS_C=NM_000401.3:c.382C>T;HGVS_P=NP_997005.1:p.Arg95Cys;MOLECULAR_CONSEQUENCE=NM_207122.1:c.283C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Seizures..scoliosis..and_macrocephaly_syndrome|SEIZURES..SCOLIOSIS..AND_MACROCEPHALY_SYNDROME_(1_family);ALL_PMIDS=26246518;ORIGIN=germline;XREFS=MedGen:C4225248|OMIM:616682;DATES_ORDERED=2015-10-01 11 66113551 . G A . . START=66113551;STOP=66113551;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=51008;RCV=RCV000043695;SCV=SCV000071708;ALLELE_ID=65678;SYMBOL=B4GAT1;HGVS_C=NM_006876.2:c.1217C>T;HGVS_P=NP_006867.1:p.Ala406Val;MOLECULAR_CONSEQUENCE=NM_006876.2:c.1217C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_01..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies)..type_a..13|MUSCULAR_DYSTROPHY-DYSTROGLYCANOPATHY_(CONGENITAL_WITH_BRAIN_AND_EYE_ANOMALIES)..TYPE_A..13;ALL_PMIDS=23359570;ORIGIN=germline;XREFS=MedGen:C3809042|OMIM:615287|Orphanet:899;DATES_ORDERED=2013-05-01 @@ -399,13 +425,14 @@ 11 71936057 . C CG . . START=71936063;STOP=71936063;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=235823;RCV=RCV000224773;SCV=SCV000281677;ALLELE_ID=237478;SYMBOL=INPPL1;HGVS_C=NM_001567.3:c.35dupG;HGVS_P=NP_001558.3:p.Ala13Argfs;MOLECULAR_CONSEQUENCE=NM_001567.3:c.35dupG:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Opsismodysplasia;ALL_PMIDS=23273567;ORIGIN=unknown;XREFS=Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|OMIM:258480|Office_of_Rare_Diseases:4098|Orphanet:2746|SNOMED_CT:254068007;DATES_ORDERED=2013-01-08 11 71940602 . G C . . START=71940602;STOP=71940602;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=235822;RCV=RCV000224420;SCV=SCV000281676;ALLELE_ID=237479;SYMBOL=INPPL1;HGVS_C=NM_001567.3:c.753G>C;HGVS_P=NP_001558.3:p.Gln251His;MOLECULAR_CONSEQUENCE=NM_001567.3:c.753G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Opsismodysplasia;ALL_PMIDS=23273567;ORIGIN=inherited;XREFS=Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|OMIM:258480|Office_of_Rare_Diseases:4098|Orphanet:2746|SNOMED_CT:254068007;DATES_ORDERED=2013-01-08 11 71940720 . CAG C . . START=71940721;STOP=71940722;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=235825;RCV=RCV000224914;SCV=SCV000281680;ALLELE_ID=237480;SYMBOL=INPPL1;HGVS_C=NM_001567.3:c.768_769delAG;HGVS_P=NP_001558.3:p.Glu258Alafs;MOLECULAR_CONSEQUENCE=NM_001567.3:c.768_769delAG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Opsismodysplasia;ALL_PMIDS=23273567;ORIGIN=inherited;XREFS=Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|OMIM:258480|Office_of_Rare_Diseases:4098|Orphanet:2746|SNOMED_CT:254068007;DATES_ORDERED=2013-01-08 +11 71943304 . G A . . START=71943304;STOP=71943304;VARIATION_TYPE=Distinct_chromosomes;VARIATION_ID=488055;RCV=RCV000577875;SCV=SCV000583573;ALLELE_ID=481067;SYMBOL=SH3PXD2B;HGVS_C=NM_001567.3:c.1636G>A;HGVS_P=NP_001558.3:p.Val546Ile;MOLECULAR_CONSEQUENCE=NM_001567.3:c.1636G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Frank_Ter_Haar_syndrome|Opsismodysplasia;ALL_PMIDS=1|20137777|29276006;ORIGIN=unknown;XREFS=Genetic_Alliance:Frank+Ter+Haar+Syndrome/2915|Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|MedGen:C1855305|OMIM:249420|OMIM:258480|Office_of_Rare_Diseases:4098|Office_of_Rare_Diseases:5138|Orphanet:137834|Orphanet:2746|SNOMED_CT:254068007;DATES_ORDERED=2017-06-01 11 71943347 . GTCACC G . . START=71943355;STOP=71943359;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=235823;RCV=RCV000224773;SCV=SCV000281677;ALLELE_ID=237481;SYMBOL=INPPL1;HGVS_C=NM_001567.3:c.1687_1691delACCTC;HGVS_P=NP_001558.3:p.Thr563Glyfs;MOLECULAR_CONSEQUENCE=NM_001567.3:c.1687_1691delACCTC:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Opsismodysplasia;ALL_PMIDS=23273567;ORIGIN=unknown;XREFS=Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|OMIM:258480|Office_of_Rare_Diseases:4098|Orphanet:2746|SNOMED_CT:254068007;DATES_ORDERED=2013-01-08 11 71945660 . G A . . START=71945660;STOP=71945660;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=235825;RCV=RCV000224914;SCV=SCV000281680;ALLELE_ID=48075;SYMBOL=INPPL1;HGVS_C=NM_001567.3:c.2415+1G>A;MOLECULAR_CONSEQUENCE=NM_001567.3:c.2415+1G>A:splice_donor_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_04..2013;ALL_SUBMITTERS=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;SUBMITTERS_ORDERED=University_of_Washington_Center_for_Mendelian_Genomics..University_of_Washington;ALL_TRAITS=Opsismodysplasia;ALL_PMIDS=23273567;ORIGIN=inherited;XREFS=Genetic_Alliance:Opsismodysplasia/5372|MedGen:C0432219|OMIM:258480|Office_of_Rare_Diseases:4098|Orphanet:2746|SNOMED_CT:254068007;DATES_ORDERED=2013-01-08 11 121037361 . C T . . START=121037361;STOP=121037361;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7013;RCV=RCV000007428;SCV=SCV000027628;ALLELE_ID=22052;SYMBOL=TECTA;HGVS_C=NM_005422.2:c.5458C>T;HGVS_P=NP_005413.2:p.Leu1820Phe;MOLECULAR_CONSEQUENCE=NM_005422.2:c.5458C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Deafness..autosomal_dominant_12|DEAFNESS..AUTOSOMAL_DOMINANT_12;ALL_PMIDS=20301607|9590290;ORIGIN=germline;XREFS=Genetic_Alliance:Deafness%2C+autosomal+dominant+12/8133|MedGen:C1832187|OMIM:601543|Orphanet:90635;DATES_ORDERED=1998-05-01 11 121037374 . G A . . START=121037374;STOP=121037374;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7013;RCV=RCV000007428;SCV=SCV000027628;ALLELE_ID=38440;SYMBOL=TECTA;HGVS_C=NM_005422.2:c.5471G>A;HGVS_P=NP_005413.2:p.Gly1824Asp;MOLECULAR_CONSEQUENCE=NM_005422.2:c.5471G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Deafness..autosomal_dominant_12|DEAFNESS..AUTOSOMAL_DOMINANT_12;ALL_PMIDS=20301607|9590290;ORIGIN=germline;XREFS=Genetic_Alliance:Deafness%2C+autosomal+dominant+12/8133|MedGen:C1832187|OMIM:601543|Orphanet:90635;DATES_ORDERED=1998-05-01 -12 57894189 . G A . . START=57894189;STOP=57894189;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=189364;RCV=RCV000169765|RCV000173000;SCV=SCV000196708|SCV000224019;ALLELE_ID=187252;SYMBOL=MARS;HGVS_C=NM_004990.3:c.1177G>A;HGVS_P=NP_004981.2:p.Ala393Thr;MOLECULAR_CONSEQUENCE=NM_004990.3:c.1177G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_07..2015;ALL_SUBMITTERS=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar|OMIM;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar|OMIM;ALL_TRAITS=Pulmonary_alveolar_proteinosis|Interstitial_lung_and_liver_disease|INTERSTITIAL_LUNG_AND_LIVER_DISEASE;ALL_PMIDS=25913036;ORIGIN=germline;XREFS=MedGen:C0034050|SNOMED_CT:10501004|MedGen:C3809651|OMIM:615486;DATES_ORDERED=2014-12-02|2015-05-07 -12 57906083 . C T . . START=57906083;STOP=57906083;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=189364;RCV=RCV000169765|RCV000173000;SCV=SCV000196708|SCV000224019;ALLELE_ID=187253;SYMBOL=MARS;HGVS_C=NM_004990.3:c.1700C>T;HGVS_P=NP_004981.2:p.Ser567Leu;MOLECULAR_CONSEQUENCE=NM_004990.3:c.1700C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_07..2015;ALL_SUBMITTERS=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar|OMIM;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar|OMIM;ALL_TRAITS=Pulmonary_alveolar_proteinosis|Interstitial_lung_and_liver_disease|INTERSTITIAL_LUNG_AND_LIVER_DISEASE;ALL_PMIDS=25913036;ORIGIN=germline;XREFS=MedGen:C0034050|SNOMED_CT:10501004|MedGen:C3809651|OMIM:615486;DATES_ORDERED=2014-12-02|2015-05-07 -12 80752660 . A G . . START=80752660;STOP=80752660;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=229122;RCV=RCV000217831;SCV=SCV000272283;ALLELE_ID=230419;SYMBOL=OTOGL;HGVS_C=NM_173591.3:c.6220A>G;HGVS_P=NP_775862.3:p.Ile2074Val;MOLECULAR_CONSEQUENCE=NM_173591.3:c.6220A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_01..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-12-01 +12 57894189 . G A . . START=57894189;STOP=57894189;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=189364;RCV=RCV000169765|RCV000173000;SCV=SCV000196708|SCV000224019;ALLELE_ID=187252;SYMBOL=MARS;HGVS_C=NM_004990.3:c.1177G>A;HGVS_P=NP_004981.2:p.Ala393Thr;MOLECULAR_CONSEQUENCE=NM_004990.3:c.1177G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_07..2015;ALL_SUBMITTERS=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar|OMIM;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar|OMIM;ALL_TRAITS=Pulmonary_alveolar_proteinosis|Interstitial_lung_and_liver_disease|INTERSTITIAL_LUNG_AND_LIVER_DISEASE;ALL_PMIDS=25913036;ORIGIN=germline;XREFS=MedGen:C0034050|SNOMED_CT:10501004|MedGen:C4225400|OMIM:615486;DATES_ORDERED=2014-12-02|2015-05-07 +12 57906083 . C T . . START=57906083;STOP=57906083;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=189364;RCV=RCV000169765|RCV000173000;SCV=SCV000196708|SCV000224019;ALLELE_ID=187253;SYMBOL=MARS;HGVS_C=NM_004990.3:c.1700C>T;HGVS_P=NP_004981.2:p.Ser567Leu;MOLECULAR_CONSEQUENCE=NM_004990.3:c.1700C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_07..2015;ALL_SUBMITTERS=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar|OMIM;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar|OMIM;ALL_TRAITS=Pulmonary_alveolar_proteinosis|Interstitial_lung_and_liver_disease|INTERSTITIAL_LUNG_AND_LIVER_DISEASE;ALL_PMIDS=25913036;ORIGIN=germline;XREFS=MedGen:C0034050|SNOMED_CT:10501004|MedGen:C4225400|OMIM:615486;DATES_ORDERED=2014-12-02|2015-05-07 +12 80752660 . A G . . START=80752660;STOP=80752660;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=229122;RCV=RCV000217831;SCV=SCV000272283;ALLELE_ID=230419;SYMBOL=OTOGL;HGVS_C=NM_173591.3:c.6220A>G;HGVS_P=NP_775862.3:p.Ile2074Val;MOLECULAR_CONSEQUENCE=NM_173591.3:c.6220A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_01..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-12-01 12 80752661 . T C . . START=80752661;STOP=80752661;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=229122;RCV=RCV000217831;SCV=SCV000272283;ALLELE_ID=230420;SYMBOL=OTOGL;HGVS_C=NM_173591.3:c.6221T>C;HGVS_P=NP_775862.3:p.Ile2074Thr;MOLECULAR_CONSEQUENCE=NM_173591.3:c.6221T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_01..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-12-01 12 102151032 . G A . . START=102151032;STOP=102151032;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=39094;RCV=RCV000032361;SCV=SCV000056008;ALLELE_ID=47698;SYMBOL=GNPTAB;HGVS_C=NM_024312.4:c.3392C>T;HGVS_P=NP_077288.2:p.Ser1131Phe;MOLECULAR_CONSEQUENCE=NM_024312.4:c.3392C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_10..2012;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=I_cell_disease|Mucolipidosis_II;ALL_PMIDS=20301728;ORIGIN=not_provided;XREFS=GeneReviews:NBK1828|Genetic_Alliance:Mucolipidosis+II/3706|Genetics_Home_Reference:mucolipidosis-ii-alpha-beta|MedGen:C2673377|OMIM:252500|Office_of_Rare_Diseases:6749|Orphanet:576;DATES_ORDERED=2012-05-10 12 102151034 . A AG . . START=102151035;STOP=102151036;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=39094;RCV=RCV000032361;SCV=SCV000056008;ALLELE_ID=47699;SYMBOL=GNPTAB;HGVS_C=NM_024312.4:c.3388_3389insC;HGVS_P=NP_077288.2:p.Val1130Alafs;MOLECULAR_CONSEQUENCE=NM_024312.4:c.3388_3389insC:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_10..2012;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=I_cell_disease|Mucolipidosis_II;ALL_PMIDS=20301728;ORIGIN=not_provided;XREFS=GeneReviews:NBK1828|Genetic_Alliance:Mucolipidosis+II/3706|Genetics_Home_Reference:mucolipidosis-ii-alpha-beta|MedGen:C2673377|OMIM:252500|Office_of_Rare_Diseases:6749|Orphanet:576;DATES_ORDERED=2012-05-10 @@ -413,42 +440,54 @@ 12 102155474 . T C . . START=102155474;STOP=102155474;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=39093;RCV=RCV000032360;SCV=SCV000056007;ALLELE_ID=47697;SYMBOL=GNPTAB;HGVS_C=NM_024312.4:c.2783A>G;HGVS_P=NP_077288.2:p.Lys928Arg;MOLECULAR_CONSEQUENCE=NM_024312.4:c.2783A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_10..2012;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=I_cell_disease|Mucolipidosis_II;ALL_PMIDS=20301728;ORIGIN=not_provided;XREFS=GeneReviews:NBK1828|Genetic_Alliance:Mucolipidosis+II/3706|Genetics_Home_Reference:mucolipidosis-ii-alpha-beta|MedGen:C2673377|OMIM:252500|Office_of_Rare_Diseases:6749|Orphanet:576;DATES_ORDERED=2012-05-10 12 102174357 . T G . . START=102174357;STOP=102174357;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=39095;RCV=RCV000032362;SCV=SCV000056009;ALLELE_ID=47700;SYMBOL=GNPTAB;HGVS_C=NM_024312.4:c.614A>C;HGVS_P=NP_077288.2:p.Gln205Pro;MOLECULAR_CONSEQUENCE=NM_024312.4:c.614A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_10..2012;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=I_cell_disease|Mucolipidosis_II;ALL_PMIDS=20301728;ORIGIN=not_provided;XREFS=GeneReviews:NBK1828|Genetic_Alliance:Mucolipidosis+II/3706|Genetics_Home_Reference:mucolipidosis-ii-alpha-beta|MedGen:C2673377|OMIM:252500|Office_of_Rare_Diseases:6749|Orphanet:576;DATES_ORDERED=2012-05-10 12 102179816 . A T . . START=102179816;STOP=102179816;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=39095;RCV=RCV000032362;SCV=SCV000056009;ALLELE_ID=47701;SYMBOL=GNPTAB;HGVS_C=NM_024312.4:c.545T>A;HGVS_P=NP_077288.2:p.Val182Asp;MOLECULAR_CONSEQUENCE=NM_024312.4:c.545T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_10..2012;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=I_cell_disease|Mucolipidosis_II;ALL_PMIDS=20301728;ORIGIN=not_provided;XREFS=GeneReviews:NBK1828|Genetic_Alliance:Mucolipidosis+II/3706|Genetics_Home_Reference:mucolipidosis-ii-alpha-beta|MedGen:C2673377|OMIM:252500|Office_of_Rare_Diseases:6749|Orphanet:576;DATES_ORDERED=2012-05-10 -12 103246681 . G A . . START=103246681;STOP=103246681;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=217885;RCV=RCV000201954;SCV=SCV000256881;ALLELE_ID=15623;SYMBOL=PAH;HGVS_C=NM_000277.2:c.754C>T;HGVS_P=NP_000268.1:p.Arg252Trp;MOLECULAR_CONSEQUENCE=NM_000277.2:c.754C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_26..2016;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Phenylketonuria;ALL_PMIDS=20301677|21915151|24385074|24667081|2574153|9429153;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1504|Genetic_Alliance:Phenylketonuria/5714|Genetic_Testing_Registry_(GTR):GTR000260641|Genetic_Testing_Registry_(GTR):GTR000330994|Genetic_Testing_Registry_(GTR):GTR000505064|Genetic_Testing_Registry_(GTR):GTR000505124|Genetic_Testing_Registry_(GTR):GTR000506557|Genetic_Testing_Registry_(GTR):GTR000507953|Genetic_Testing_Registry_(GTR):GTR000509046|Genetic_Testing_Registry_(GTR):GTR000522527|MedGen:C0031485|OMIM:261600|Office_of_Rare_Diseases:7383|Orphanet:716|SNOMED_CT:154735006;DATES_ORDERED=2014-08-07 +12 103246681 . G A . . START=103246681;STOP=103246681;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=217885;RCV=RCV000201954;SCV=SCV000256881;ALLELE_ID=15623;SYMBOL=PAH;HGVS_C=NM_000277.2:c.754C>T;HGVS_P=NP_000268.1:p.Arg252Trp;MOLECULAR_CONSEQUENCE=NM_000277.2:c.754C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_07..2017;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Phenylketonuria;ALL_PMIDS=20301677|21915151|24385074|24667081|2574153|9429153;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1504|Genetic_Alliance:Phenylketonuria/5714|Genetic_Testing_Registry_(GTR):GTR000260641|Genetic_Testing_Registry_(GTR):GTR000330994|Genetic_Testing_Registry_(GTR):GTR000505064|Genetic_Testing_Registry_(GTR):GTR000505124|Genetic_Testing_Registry_(GTR):GTR000506557|Genetic_Testing_Registry_(GTR):GTR000507953|Genetic_Testing_Registry_(GTR):GTR000509046|Genetic_Testing_Registry_(GTR):GTR000522527|MedGen:C0031485|OMIM:261600|Office_of_Rare_Diseases:7383|Orphanet:716|SNOMED_CT:154735006;DATES_ORDERED=2014-08-07 12 103246700 . C T . . START=103246700;STOP=103246700;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=402236;RCV=RCV000454199;SCV=SCV000538053;ALLELE_ID=98655;SYMBOL=PAH;HGVS_C=NM_000277.2:c.735G>A;HGVS_P=NP_000268.1:p.Val245_eq_;MOLECULAR_CONSEQUENCE=NM_000277.2:c.735G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Knight_Diagnostic_Laboratories..Oregon_Health_and_Sciences_University;SUBMITTERS_ORDERED=Knight_Diagnostic_Laboratories..Oregon_Health_and_Sciences_University;ALL_TRAITS=Phenylketonuria;ALL_PMIDS=20301677|21915151|24385074|24667081|25741868;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1504|Genetic_Alliance:Phenylketonuria/5714|Genetic_Testing_Registry_(GTR):GTR000260641|Genetic_Testing_Registry_(GTR):GTR000330994|Genetic_Testing_Registry_(GTR):GTR000505064|Genetic_Testing_Registry_(GTR):GTR000505124|Genetic_Testing_Registry_(GTR):GTR000506557|Genetic_Testing_Registry_(GTR):GTR000507953|Genetic_Testing_Registry_(GTR):GTR000509046|Genetic_Testing_Registry_(GTR):GTR000522527|MedGen:C0031485|OMIM:261600|Office_of_Rare_Diseases:7383|Orphanet:716|SNOMED_CT:154735006;DATES_ORDERED=2015-08-13 12 103246712 . GC G . . START=103246713;STOP=103246713;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=402236;RCV=RCV000454199;SCV=SCV000538053;ALLELE_ID=108542;SYMBOL=PAH;HGVS_C=NM_000277.2:c.722delG;HGVS_P=NP_000268.1:p.Arg241Profs;MOLECULAR_CONSEQUENCE=NM_000277.2:c.722delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_13..2015;ALL_SUBMITTERS=Knight_Diagnostic_Laboratories..Oregon_Health_and_Sciences_University;SUBMITTERS_ORDERED=Knight_Diagnostic_Laboratories..Oregon_Health_and_Sciences_University;ALL_TRAITS=Phenylketonuria;ALL_PMIDS=20301677|21915151|24385074|24667081|25741868;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1504|Genetic_Alliance:Phenylketonuria/5714|Genetic_Testing_Registry_(GTR):GTR000260641|Genetic_Testing_Registry_(GTR):GTR000330994|Genetic_Testing_Registry_(GTR):GTR000505064|Genetic_Testing_Registry_(GTR):GTR000505124|Genetic_Testing_Registry_(GTR):GTR000506557|Genetic_Testing_Registry_(GTR):GTR000507953|Genetic_Testing_Registry_(GTR):GTR000509046|Genetic_Testing_Registry_(GTR):GTR000522527|MedGen:C0031485|OMIM:261600|Office_of_Rare_Diseases:7383|Orphanet:716|SNOMED_CT:154735006;DATES_ORDERED=2015-08-13 12 103271835 . C A . . START=103271835;STOP=103271835;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=217885;RCV=RCV000201954;SCV=SCV000256881;ALLELE_ID=214540;SYMBOL=PAH;HGVS_C=NM_000277.2:c.353-507G>T;MOLECULAR_CONSEQUENCE=NM_000277.2:c.353-507G>T:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_07..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Phenylketonuria;ALL_PMIDS=20301677|21915151|24385074|24667081|2574153|9429153;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1504|Genetic_Alliance:Phenylketonuria/5714|Genetic_Testing_Registry_(GTR):GTR000260641|Genetic_Testing_Registry_(GTR):GTR000330994|Genetic_Testing_Registry_(GTR):GTR000505064|Genetic_Testing_Registry_(GTR):GTR000505124|Genetic_Testing_Registry_(GTR):GTR000506557|Genetic_Testing_Registry_(GTR):GTR000507953|Genetic_Testing_Registry_(GTR):GTR000509046|Genetic_Testing_Registry_(GTR):GTR000522527|MedGen:C0031485|OMIM:261600|Office_of_Rare_Diseases:7383|Orphanet:716|SNOMED_CT:154735006;DATES_ORDERED=2014-08-07 -13 20763313 . G T . . START=20763313;STOP=20763313;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267367;RCV=RCV000258130;SCV=SCV000328260|SCV000599732;ALLELE_ID=186856;SYMBOL=GJB2;HGVS_C=NM_004004.5:c.408C>A;HGVS_P=NP_003995.2:p.Tyr136Ter;MOLECULAR_CONSEQUENCE=NM_004004.5:c.408C>A:nonsense;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=May_09..2017;ALL_SUBMITTERS=OMIM|Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;SUBMITTERS_ORDERED=OMIM|Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=Deafness..autosomal_recessive_1A|DEAFNESS..AUTOSOMAL_RECESSIVE_1A|Deafness..autosomal_recessive_1A;ALL_PMIDS=1|12560944|15633193|20301449|20301607|20497192|24785414;ORIGIN=germline;XREFS=GeneReviews:NBK1272|Genetic_Alliance:Deafness%2C+autosomal+recessive+1A/8159|MedGen:C2673759|OMIM:220290|Office_of_Rare_Diseases:1697|Orphanet:90636;DATES_ORDERED=2010-11-01|2017-05-09 +12 110221556 . A T . . START=110221556;STOP=110221556;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=378057;RCV=RCV000435546;SCV=SCV000513422;ALLELE_ID=472257;SYMBOL=TRPV4;HGVS_C=NM_021625.4:c.2486T>A;HGVS_P=NP_067638.3:p.Val829Glu;MOLECULAR_CONSEQUENCE=NM_021625.4:c.2486T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_03..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Avascular_necrosis_of_femoral_head..primary..2|AVASCULAR_NECROSIS_OF_FEMORAL_HEAD..PRIMARY..2_(1_family);ALL_PMIDS=27330106;ORIGIN=germline;XREFS=MedGen:CN240839|OMIM:617383;DATES_ORDERED=2017-03-03 +12 110221557 . CGCGG C . . START=110221558;STOP=110221561;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=378057;RCV=RCV000435546;SCV=SCV000513422;ALLELE_ID=380146;SYMBOL=TRPV4;HGVS_C=NM_021625.4:c.2481_2484delCCGC;HGVS_P=NP_067638.3:p.Arg828Trpfs;MOLECULAR_CONSEQUENCE=NM_021625.4:c.2481_2484delCCGC:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_03..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Avascular_necrosis_of_femoral_head..primary..2|AVASCULAR_NECROSIS_OF_FEMORAL_HEAD..PRIMARY..2_(1_family);ALL_PMIDS=27330106;ORIGIN=germline;XREFS=MedGen:CN240839|OMIM:617383;DATES_ORDERED=2017-03-03 +13 20763313 . G T . . START=20763313;STOP=20763313;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267367|446728;RCV=RCV000258130|RCV000516165;SCV=SCV000599732|SCV000328260;ALLELE_ID=186856;SYMBOL=GJB2;HGVS_C=NM_004004.5:c.408C>A;HGVS_P=NP_003995.2:p.Tyr136Ter;MOLECULAR_CONSEQUENCE=NM_004004.5:c.408C>A:nonsense;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|no_assertion_criteria_provided;LAST_EVALUATED=May_09..2017;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia|OMIM;SUBMITTERS_ORDERED=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia|OMIM;ALL_TRAITS=Deafness..autosomal_recessive_1A|DEAFNESS..AUTOSOMAL_RECESSIVE_1A;ALL_PMIDS=1|20301449|20301607|20497192|12560944|15633193|24785414;ORIGIN=germline;XREFS=GeneReviews:NBK1272|Genetic_Alliance:Deafness%2C+autosomal+recessive+1A/8159|MedGen:C2673759|OMIM:220290|Office_of_Rare_Diseases:1697|Orphanet:90636;DATES_ORDERED=2017-05-09|2010-11-01 13 20763380 . T C . . START=20763380;STOP=20763380;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=177819;RCV=RCV000154452;SCV=SCV000204121;ALLELE_ID=53906;SYMBOL=GJB2;HGVS_C=NM_004004.5:c.341A>G;HGVS_P=NP_003995.2:p.Glu114Gly;MOLECULAR_CONSEQUENCE=NM_004004.5:c.341A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_09..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=10607953|10983956|12746422|15070423|17041943|17666888|20083784|20201936|20668687|21298213|23826813|24033266|9529365;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-28 -13 20763587 . C T . . START=20763587;STOP=20763587;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267367;RCV=RCV000258130;SCV=SCV000328260|SCV000599732;ALLELE_ID=32072;SYMBOL=GJB2;HGVS_C=NM_004004.5:c.134G>A;HGVS_P=NP_003995.2:p.Gly45Glu;MOLECULAR_CONSEQUENCE=NM_004004.5:c.134G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=May_09..2017;ALL_SUBMITTERS=OMIM|Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;SUBMITTERS_ORDERED=OMIM|Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=Deafness..autosomal_recessive_1A|DEAFNESS..AUTOSOMAL_RECESSIVE_1A|Deafness..autosomal_recessive_1A;ALL_PMIDS=1|12560944|15633193|20301449|20301607|20497192|24785414;ORIGIN=germline;XREFS=GeneReviews:NBK1272|Genetic_Alliance:Deafness%2C+autosomal+recessive+1A/8159|MedGen:C2673759|OMIM:220290|Office_of_Rare_Diseases:1697|Orphanet:90636;DATES_ORDERED=2010-11-01|2017-05-09 +13 20763587 . C T . . START=20763587;STOP=20763587;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267367|446728;RCV=RCV000258130|RCV000516165;SCV=SCV000599732|SCV000328260;ALLELE_ID=32072;SYMBOL=GJB2;HGVS_C=NM_004004.5:c.134G>A;HGVS_P=NP_003995.2:p.Gly45Glu;MOLECULAR_CONSEQUENCE=NM_004004.5:c.134G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|no_assertion_criteria_provided;LAST_EVALUATED=May_09..2017;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia|OMIM;SUBMITTERS_ORDERED=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia|OMIM;ALL_TRAITS=Deafness..autosomal_recessive_1A|DEAFNESS..AUTOSOMAL_RECESSIVE_1A;ALL_PMIDS=1|20301449|20301607|20497192|12560944|15633193|24785414;ORIGIN=germline;XREFS=GeneReviews:NBK1272|Genetic_Alliance:Deafness%2C+autosomal+recessive+1A/8159|MedGen:C2673759|OMIM:220290|Office_of_Rare_Diseases:1697|Orphanet:90636;DATES_ORDERED=2017-05-09|2010-11-01 13 20763642 . C T . . START=20763642;STOP=20763642;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=177819;RCV=RCV000154452;SCV=SCV000204121;ALLELE_ID=44943;SYMBOL=GJB2;HGVS_C=NM_004004.5:c.79G>A;HGVS_P=NP_003995.2:p.Val27Ile;MOLECULAR_CONSEQUENCE=NM_004004.5:c.79G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_09..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=10607953|10983956|12746422|15070423|17041943|17666888|20083784|20201936|20668687|21298213|23826813|24033266|9529365;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-28 +13 23929111 . G A . . START=23929111;STOP=23929111;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=424657;RCV=RCV000515975;SCV=SCV000574461;ALLELE_ID=327819;SYMBOL=SACS;HGVS_C=NM_014363.5:c.1640C>T;HGVS_P=NP_055178.3:p.Pro547Leu;MOLECULAR_CONSEQUENCE=NM_014363.5:c.1640C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_07..2017;ALL_SUBMITTERS=Unit_for_Genetic_&_Epidemiological_Research_on_Neurological_Disorders..Instituto_de_Investigação_e_Inovação_em_Saúde;SUBMITTERS_ORDERED=Unit_for_Genetic_&_Epidemiological_Research_on_Neurological_Disorders..Instituto_de_Investigação_e_Inovação_em_Saúde;ALL_TRAITS=Hereditary_spastic_paraplegia;ALL_PMIDS=20301682|28832565;DISEASE_MECHANISM=loss_of_function;ORIGIN=inherited;XREFS=GeneReviews:NBK1509|Genetic_Alliance:Hereditary+spastic+paraplegia/3383|Genetic_Testing_Registry_(GTR):GTR000500041|Genetic_Testing_Registry_(GTR):GTR000500218|Genetic_Testing_Registry_(GTR):GTR000500428|Genetic_Testing_Registry_(GTR):GTR000508756|Genetic_Testing_Registry_(GTR):GTR000525862|Genetic_Testing_Registry_(GTR):GTR000525863|Genetic_Testing_Registry_(GTR):GTR000528277|Genetic_Testing_Registry_(GTR):GTR000529007|MedGen:C0037773|OMIM:PS303350|Office_of_Rare_Diseases:6637|Orphanet:ORPHA685|SNOMED_CT:39912006;DATES_ORDERED=2017-03-07 +13 23929117 . C A . . START=23929117;STOP=23929117;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=424657;RCV=RCV000515975;SCV=SCV000574461;ALLELE_ID=411584;SYMBOL=SACS;HGVS_C=NM_014363.5:c.1634G>T;HGVS_P=NP_055178.3:p.Trp545Leu;MOLECULAR_CONSEQUENCE=NM_014363.5:c.1634G>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_07..2017;ALL_SUBMITTERS=Unit_for_Genetic_&_Epidemiological_Research_on_Neurological_Disorders..Instituto_de_Investigação_e_Inovação_em_Saúde;SUBMITTERS_ORDERED=Unit_for_Genetic_&_Epidemiological_Research_on_Neurological_Disorders..Instituto_de_Investigação_e_Inovação_em_Saúde;ALL_TRAITS=Hereditary_spastic_paraplegia;ALL_PMIDS=20301682|28832565;DISEASE_MECHANISM=loss_of_function;ORIGIN=inherited;XREFS=GeneReviews:NBK1509|Genetic_Alliance:Hereditary+spastic+paraplegia/3383|Genetic_Testing_Registry_(GTR):GTR000500041|Genetic_Testing_Registry_(GTR):GTR000500218|Genetic_Testing_Registry_(GTR):GTR000500428|Genetic_Testing_Registry_(GTR):GTR000508756|Genetic_Testing_Registry_(GTR):GTR000525862|Genetic_Testing_Registry_(GTR):GTR000525863|Genetic_Testing_Registry_(GTR):GTR000528277|Genetic_Testing_Registry_(GTR):GTR000529007|MedGen:C0037773|OMIM:PS303350|Office_of_Rare_Diseases:6637|Orphanet:ORPHA685|SNOMED_CT:39912006;DATES_ORDERED=2017-03-07 13 52515247 . C T . . START=52515247;STOP=52515247;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=3863;RCV=RCV000004067;SCV=SCV000024233;ALLELE_ID=38430;SYMBOL=ATP7B;HGVS_C=NM_000053.3:c.3526G>A;HGVS_P=NP_000044.2:p.Gly1176Arg;MOLECULAR_CONSEQUENCE=NM_000053.3:c.3526G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_01..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Wilson_disease|WILSON_DISEASE;ALL_PMIDS=15845031|18506894|20301685|20482602|27854360;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1512|Genetic_Alliance:Wilson+disease/7506|Genetic_Testing_Registry_(GTR):GTR000260623|Genetic_Testing_Registry_(GTR):GTR000501125|Genetic_Testing_Registry_(GTR):GTR000503091|Genetic_Testing_Registry_(GTR):GTR000507952|Genetic_Testing_Registry_(GTR):GTR000508735|Genetic_Testing_Registry_(GTR):GTR000509712|Genetic_Testing_Registry_(GTR):GTR000515523|Genetic_Testing_Registry_(GTR):GTR000520457|Genetic_Testing_Registry_(GTR):GTR000521900|Genetic_Testing_Registry_(GTR):GTR000528288|Genetic_Testing_Registry_(GTR):GTR000528632|Genetic_Testing_Registry_(GTR):GTR000528928|Genetic_Testing_Registry_(GTR):GTR000530035|Genetic_Testing_Registry_(GTR):GTR000530097|Genetic_Testing_Registry_(GTR):GTR000552345|Genetic_Testing_Registry_(GTR):GTR000553937|Genetics_Home_Reference:wilson-disease|MedGen:C0019202|OMIM:277900|Office_of_Rare_Diseases:7893|Orphanet:905|SNOMED_CT:88518009;DATES_ORDERED=2005-05-01 13 52515330 . A G . . START=52515330;STOP=52515330;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=3863;RCV=RCV000004067;SCV=SCV000024233;ALLELE_ID=18902;SYMBOL=ATP7B;HGVS_C=NM_000053.3:c.3443T>C;HGVS_P=NP_000044.2:p.Ile1148Thr;MOLECULAR_CONSEQUENCE=NM_000053.3:c.3443T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_10..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Wilson_disease|WILSON_DISEASE;ALL_PMIDS=15845031|18506894|20301685|20482602|27854360;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1512|Genetic_Alliance:Wilson+disease/7506|Genetic_Testing_Registry_(GTR):GTR000260623|Genetic_Testing_Registry_(GTR):GTR000501125|Genetic_Testing_Registry_(GTR):GTR000503091|Genetic_Testing_Registry_(GTR):GTR000507952|Genetic_Testing_Registry_(GTR):GTR000508735|Genetic_Testing_Registry_(GTR):GTR000509712|Genetic_Testing_Registry_(GTR):GTR000515523|Genetic_Testing_Registry_(GTR):GTR000520457|Genetic_Testing_Registry_(GTR):GTR000521900|Genetic_Testing_Registry_(GTR):GTR000528288|Genetic_Testing_Registry_(GTR):GTR000528632|Genetic_Testing_Registry_(GTR):GTR000528928|Genetic_Testing_Registry_(GTR):GTR000530035|Genetic_Testing_Registry_(GTR):GTR000530097|Genetic_Testing_Registry_(GTR):GTR000552345|Genetic_Testing_Registry_(GTR):GTR000553937|Genetics_Home_Reference:wilson-disease|MedGen:C0019202|OMIM:277900|Office_of_Rare_Diseases:7893|Orphanet:905|SNOMED_CT:88518009;DATES_ORDERED=2005-05-01 13 103701773 . G A . . START=103701773;STOP=103701773;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=8241;RCV=RCV000008724;SCV=SCV000028933;ALLELE_ID=38442;SYMBOL=SLC10A2;HGVS_C=NM_000452.2:c.785C>T;HGVS_P=NP_000443.1:p.Thr262Met;MOLECULAR_CONSEQUENCE=NM_000452.2:c.785C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_15..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Bile_acid_malabsorption..primary|BILE_ACID_MALABSORPTION..PRIMARY;ALL_PMIDS=9109432;ORIGIN=germline;XREFS=Genetic_Alliance:Bile+acid+malabsorption%2C+primary/7818|MedGen:C2750087|OMIM:613291;DATES_ORDERED=1997-04-15 13 103703640 . A G . . START=103703640;STOP=103703640;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=8241;RCV=RCV000008724;SCV=SCV000028933;ALLELE_ID=23280;SYMBOL=SLC10A2;HGVS_C=NM_000452.2:c.728T>C;HGVS_P=NP_000443.1:p.Leu243Pro;MOLECULAR_CONSEQUENCE=NM_000452.2:c.728T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_15..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Bile_acid_malabsorption..primary|BILE_ACID_MALABSORPTION..PRIMARY;ALL_PMIDS=9109432;ORIGIN=germline;XREFS=Genetic_Alliance:Bile+acid+malabsorption%2C+primary/7818|MedGen:C2750087|OMIM:613291;DATES_ORDERED=1997-04-15 -14 29237048 . C G . . START=29237048;STOP=29237048;STRAND=+;VARIATION_TYPE=Phase_unknown;VARIATION_ID=189607;RCV=RCV000170068;SCV=SCV000222377;ALLELE_ID=169055;SYMBOL=FOXG1;HGVS_C=NM_005249.4:c.563C>G;HGVS_P=NP_005240.3:p.Ala188Gly;MOLECULAR_CONSEQUENCE=NM_005249.4:c.563C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_08..2013;ALL_SUBMITTERS=RettBASE;SUBMITTERS_ORDERED=RettBASE;ALL_TRAITS=not_provided|Not_provided;ORIGIN=de_novo;XREFS=MedGen:CN221809;DATES_ORDERED=2011-02-15 -14 29237129 . TC CT . . START=29237129;STOP=29237130;STRAND=+;VARIATION_TYPE=Phase_unknown;VARIATION_ID=189607;RCV=RCV000170068;SCV=SCV000222377;ALLELE_ID=187407;SYMBOL=FOXG1;HGVS_C=NM_005249.4:c.644_645delTCinsCT;HGVS_P=NP_005240.3:p.Phe215Ser;MOLECULAR_CONSEQUENCE=NM_005249.4:c.644_645delTCinsCT:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_08..2013;ALL_SUBMITTERS=RettBASE;SUBMITTERS_ORDERED=RettBASE;ALL_TRAITS=not_provided|Not_provided;ORIGIN=de_novo;XREFS=MedGen:CN221809;DATES_ORDERED=2011-02-15 -14 32031331 . G A . . START=32031331;STOP=32031331;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7;RCV=RCV000000017;SCV=SCV000020160|SCV000245520;ALLELE_ID=15046;SYMBOL=NUBPL;HGVS_C=NM_025152.2:c.166G>A;HGVS_P=NP_079428.2:p.Gly56Arg;MOLECULAR_CONSEQUENCE=NM_025152.2:c.166G>A:missense_variant|NR_120408.1:n.221G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Feb_22..2017;ALL_SUBMITTERS=OMIM|Baylor_Miraca_Genetics_Laboratories;SUBMITTERS_ORDERED=OMIM|Baylor_Miraca_Genetics_Laboratories;ALL_TRAITS=Mitochondrial_complex_I_deficiency|MITOCHONDRIAL_COMPLEX_I_DEFICIENCY|Mitochondrial_complex_I_deficiency;ALL_PMIDS=20818383|22072591|23553477|24088041|26633545;ORIGIN=germline|maternal|paternal;XREFS=Genetic_Alliance:Mitochondrial+complex+I+deficiency/4823|MedGen:C1838979|OMIM:252010|Office_of_Rare_Diseases:3908|Orphanet:2609;DATES_ORDERED=2013-05-02|2014-04-09 -14 32319298 . T C . . START=32319298;STOP=32319298;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7;RCV=RCV000000017;SCV=SCV000020160|SCV000245520;ALLELE_ID=59458;SYMBOL=NUBPL;HGVS_C=NM_025152.2:c.815-27T>C;MOLECULAR_CONSEQUENCE=NM_025152.2:c.815-27T>C:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Feb_09..2017;ALL_SUBMITTERS=OMIM|Baylor_Miraca_Genetics_Laboratories;SUBMITTERS_ORDERED=OMIM|Baylor_Miraca_Genetics_Laboratories;ALL_TRAITS=Mitochondrial_complex_I_deficiency|MITOCHONDRIAL_COMPLEX_I_DEFICIENCY|Mitochondrial_complex_I_deficiency;ALL_PMIDS=20818383|22072591|23553477|24088041|26633545;ORIGIN=germline|maternal|paternal;XREFS=Genetic_Alliance:Mitochondrial+complex+I+deficiency/4823|MedGen:C1838979|OMIM:252010|Office_of_Rare_Diseases:3908|Orphanet:2609;DATES_ORDERED=2013-05-02|2014-04-09 +14 23895007 . G A . . START=23895007;STOP=23895007;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=487487;RCV=RCV000015167;SCV=SCV000035424;ALLELE_ID=29150;SYMBOL=MYH7;HGVS_C=NM_000257.3:c.2183C>T;HGVS_P=NP_000248.2:p.Ala728Val;MOLECULAR_CONSEQUENCE=NM_000257.3:c.2183C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_27..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_hypertrophic_cardiomyopathy_1|CARDIOMYOPATHY..FAMILIAL_HYPERTROPHIC..1;ALL_PMIDS=11424919|20301559|20301725|21267010|23788249|25173338|25356965|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1768|Genetic_Alliance:Familial+hypertrophic+cardiomyopathy+1/8382|MedGen:C3495498|OMIM:192600;DATES_ORDERED=2001-06-01 +14 23896866 . C T . . START=23896866;STOP=23896866;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=487487;RCV=RCV000015167;SCV=SCV000035424;ALLELE_ID=29130;SYMBOL=MYH7;HGVS_C=NM_000257.3:c.1816G>A;HGVS_P=NP_000248.2:p.Val606Met;MOLECULAR_CONSEQUENCE=NM_000257.3:c.1816G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_13..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_hypertrophic_cardiomyopathy_1|CARDIOMYOPATHY..FAMILIAL_HYPERTROPHIC..1;ALL_PMIDS=11424919|20301559|20301725|21267010|23788249|25173338|25356965|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1768|Genetic_Alliance:Familial+hypertrophic+cardiomyopathy+1/8382|MedGen:C3495498|OMIM:192600;DATES_ORDERED=2001-06-01 +14 29237048 . C G . . START=29237048;STOP=29237048;STRAND=+;VARIATION_TYPE=Phase_unknown;VARIATION_ID=189607;RCV=RCV000170068;SCV=SCV000222377;ALLELE_ID=169055;SYMBOL=FOXG1;HGVS_C=NM_005249.4:c.563C>G;HGVS_P=NP_005240.3:p.Ala188Gly;MOLECULAR_CONSEQUENCE=NM_005249.4:c.563C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_08..2013;ALL_SUBMITTERS=RettBASE;SUBMITTERS_ORDERED=RettBASE;ALL_TRAITS=not_provided|Not_provided;ORIGIN=de_novo;XREFS=MedGen:CN517202;DATES_ORDERED=2011-02-15 +14 29237129 . TC CT . . START=29237129;STOP=29237130;STRAND=+;VARIATION_TYPE=Phase_unknown;VARIATION_ID=189607;RCV=RCV000170068;SCV=SCV000222377;ALLELE_ID=187407;SYMBOL=FOXG1;HGVS_C=NM_005249.4:c.644_645delTCinsCT;HGVS_P=NP_005240.3:p.Phe215Ser;MOLECULAR_CONSEQUENCE=NM_005249.4:c.644_645delTCinsCT:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_08..2013;ALL_SUBMITTERS=RettBASE;SUBMITTERS_ORDERED=RettBASE;ALL_TRAITS=not_provided|Not_provided;ORIGIN=de_novo;XREFS=MedGen:CN517202;DATES_ORDERED=2011-02-15 +14 32031331 . G A . . START=32031331;STOP=32031331;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7;RCV=RCV000000017;SCV=SCV000020160|SCV000245520;ALLELE_ID=15046;SYMBOL=NUBPL;HGVS_C=NM_025152.2:c.166G>A;HGVS_P=NP_079428.2:p.Gly56Arg;MOLECULAR_CONSEQUENCE=NM_025152.2:c.166G>A:missense_variant|NR_120408.1:n.221G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Feb_22..2017;ALL_SUBMITTERS=OMIM|Baylor_Miraca_Genetics_Laboratories;SUBMITTERS_ORDERED=OMIM|Baylor_Miraca_Genetics_Laboratories;ALL_TRAITS=Mitochondrial_complex_I_deficiency|MITOCHONDRIAL_COMPLEX_I_DEFICIENCY|Mitochondrial_complex_I_deficiency;ALL_PMIDS=20818383|22072591|23553477|24088041|26633545;ORIGIN=germline|maternal|paternal;XREFS=Genetic_Alliance:Mitochondrial+complex+I+deficiency/4823|MedGen:C1838979|OMIM:252010|Office_of_Rare_Diseases:3908|Orphanet:2609;DATES_ORDERED=2013-04-23|2014-04-09 +14 32319298 . T C . . START=32319298;STOP=32319298;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=7;RCV=RCV000000017;SCV=SCV000020160|SCV000245520;ALLELE_ID=59458;SYMBOL=NUBPL;HGVS_C=NM_025152.2:c.815-27T>C;MOLECULAR_CONSEQUENCE=NM_025152.2:c.815-27T>C:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Aug_14..2017;ALL_SUBMITTERS=OMIM|Baylor_Miraca_Genetics_Laboratories;SUBMITTERS_ORDERED=OMIM|Baylor_Miraca_Genetics_Laboratories;ALL_TRAITS=Mitochondrial_complex_I_deficiency|MITOCHONDRIAL_COMPLEX_I_DEFICIENCY|Mitochondrial_complex_I_deficiency;ALL_PMIDS=20818383|22072591|23553477|24088041|26633545;ORIGIN=germline|maternal|paternal;XREFS=Genetic_Alliance:Mitochondrial+complex+I+deficiency/4823|MedGen:C1838979|OMIM:252010|Office_of_Rare_Diseases:3908|Orphanet:2609;DATES_ORDERED=2013-04-23|2014-04-09 14 51378443 . AGTAC A . . START=51378444;STOP=51378447;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=38368;RCV=RCV000020505;SCV=SCV000040956;ALLELE_ID=46929;SYMBOL=PYGL;HGVS_C=NM_002863.4:c.1969+1_1969+4delGTAC;MOLECULAR_CONSEQUENCE=NM_002863.4:c.1969+1_1969+4delGTAC:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_17..2011;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Glycogen_storage_disease..type_VI|Glycogen_Storage_Disease_Type_VI;ALL_PMIDS=17705025|20301760;ORIGIN=not_provided;XREFS=GeneReviews:NBK5941|Genetic_Alliance:Glycogen+Storage+Disease+Type+6/3126|MedGen:C0017925|OMIM:232700|Office_of_Rare_Diseases:6529|Orphanet:369|SNOMED_CT:237971004|SNOMED_CT:29291001;DATES_ORDERED=2011-05-17 14 51378448 . CTTTTT AAAAAG . . START=51378448;STOP=51378453;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=38368;RCV=RCV000020505;SCV=SCV000040956;ALLELE_ID=46930;SYMBOL=PYGL;HGVS_C=NM_002863.4:c.1964_1969invAAAAAG;HGVS_P=NP_002854.3:p.Glu655_Lys656del;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathologic;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_17..2011;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Glycogen_storage_disease..type_VI|Glycogen_Storage_Disease_Type_VI;ALL_PMIDS=17705025|20301760;ORIGIN=not_provided;XREFS=GeneReviews:NBK5941|Genetic_Alliance:Glycogen+Storage+Disease+Type+6/3126|MedGen:C0017925|OMIM:232700|Office_of_Rare_Diseases:6529|Orphanet:369|SNOMED_CT:237971004|SNOMED_CT:29291001;DATES_ORDERED=2011-05-17 14 75570544 . C A . . START=75570544;STOP=75570544;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=242987;RCV=RCV000234965;SCV=SCV000292296;ALLELE_ID=248590;SYMBOL=NEK9;HGVS_C=NM_033116.5:c.1731+1G>T;MOLECULAR_CONSEQUENCE=NM_033116.5:c.1731+1G>T:splice_donor_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_11..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Nevus_comedonicus|NEVUS_COMEDONICUS..SOMATIC;ALL_PMIDS=27153399;ORIGIN=somatic;XREFS=MedGen:C0265987|OMIM:617025;DATES_ORDERED=2016-07-11 14 75570561 . C A . . START=75570561;STOP=75570561;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=242987;RCV=RCV000234965;SCV=SCV000292296;ALLELE_ID=244069;SYMBOL=NEK9;HGVS_C=NM_033116.5:c.1715G>T;HGVS_P=NP_149107.4:p.Gly572Val;MOLECULAR_CONSEQUENCE=NM_033116.5:c.1715G>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_11..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Nevus_comedonicus|NEVUS_COMEDONICUS..SOMATIC;ALL_PMIDS=27153399;ORIGIN=somatic;XREFS=MedGen:C0265987|OMIM:617025;DATES_ORDERED=2016-07-11 -14 94847262 . T A . . START=94847262;STOP=94847262;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440500|440501;RCV=RCV000508742|RCV000508836;SCV=SCV000605935|SCV000605936;ALLELE_ID=33008;SYMBOL=SERPINA1;HGVS_C=NM_001127701.1:c.863A>T;HGVS_P=NP_001121173.1:p.Glu288Val;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.863A>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_24..2017;ALL_SUBMITTERS=HerediLab..Inc.;SUBMITTERS_ORDERED=HerediLab..Inc.;ALL_TRAITS=Alpha-1-antitrypsin_deficiency|Alpha-1_Antitrypsin_Deficiency;ALL_PMIDS=15685488|20301692|24121147;ORIGIN=germline;XREFS=GeneReviews:NBK1519|Genetic_Alliance:Alpha+1-Antitrypsin+Deficiency/325|MedGen:C0221757|OMIM:613490|Office_of_Rare_Diseases:5784|Orphanet:60|SNOMED_CT:30188007;DATES_ORDERED=2016-07-12|2015-11-13 +14 94847262 . T A . . START=94847262;STOP=94847262;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440500|440501;RCV=RCV000508742|RCV000508836;SCV=SCV000605935|SCV000605936;ALLELE_ID=33008;SYMBOL=SERPINA1;HGVS_C=NM_001127701.1:c.863A>T;HGVS_P=NP_001121173.1:p.Glu288Val;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.863A>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_23..2017;ALL_SUBMITTERS=HerediLab..Inc.;SUBMITTERS_ORDERED=HerediLab..Inc.;ALL_TRAITS=Alpha-1-antitrypsin_deficiency|Alpha-1_Antitrypsin_Deficiency;ALL_PMIDS=15685488|20301692|24121147;ORIGIN=germline;XREFS=GeneReviews:NBK1519|Genetic_Alliance:Alpha+1-Antitrypsin+Deficiency/325|MedGen:C0221757|OMIM:613490|Office_of_Rare_Diseases:5784|Orphanet:60|SNOMED_CT:30188007;DATES_ORDERED=2016-07-12|2015-11-13 14 94847386 . G A . . START=94847386;STOP=94847386;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=219354;RCV=RCV000205893;SCV=SCV000259189;ALLELE_ID=33000;SYMBOL=SERPINA1;HGVS_C=NM_001127707.1:c.739C>T;HGVS_P=NP_001121179.1:p.Arg247Cys;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.739C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=HerediLab..Inc.;SUBMITTERS_ORDERED=HerediLab..Inc.;ALL_TRAITS=Alpha-1-antitrypsin_deficiency;ALL_PMIDS=15685488|20301692|24121147;ORIGIN=germline;XREFS=GeneReviews:NBK1519|Genetic_Alliance:Alpha+1-Antitrypsin+Deficiency/325|MedGen:C0221757|OMIM:613490|Office_of_Rare_Diseases:5784|Orphanet:60|SNOMED_CT:30188007;DATES_ORDERED=2015-07-23 14 94848973 . T C . . START=94848973;STOP=94848973;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440500;RCV=RCV000508742;SCV=SCV000605935;ALLELE_ID=434125;SYMBOL=SERPINA1;HGVS_C=NM_001127701.1:c.602A>G;HGVS_P=NP_001121173.1:p.Asp201Gly;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.602A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_12..2016;ALL_SUBMITTERS=HerediLab..Inc.;SUBMITTERS_ORDERED=HerediLab..Inc.;ALL_TRAITS=Alpha-1-antitrypsin_deficiency|Alpha-1_Antitrypsin_Deficiency;ALL_PMIDS=15685488|20301692|24121147;ORIGIN=germline;XREFS=GeneReviews:NBK1519|Genetic_Alliance:Alpha+1-Antitrypsin+Deficiency/325|MedGen:C0221757|OMIM:613490|Office_of_Rare_Diseases:5784|Orphanet:60|SNOMED_CT:30188007;DATES_ORDERED=2016-07-12 -14 94849061 . C T . . START=94849061;STOP=94849061;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=17972;RCV=RCV000019572;SCV=SCV000039869;ALLELE_ID=33011;SYMBOL=SERPINA1;HGVS_C=NM_001127701.1:c.514G>A;HGVS_P=NP_001121173.1:p.Gly172Arg;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.514G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=PI_M(NICHINAN)|PI_M(NICHINAN);ALL_PMIDS=2309708|6162902;ORIGIN=germline;XREFS=OMIM:107400.0017;DATES_ORDERED=2016-07-15 +14 94849061 . C T . . START=94849061;STOP=94849061;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=17972;RCV=RCV000019572;SCV=SCV000039869;ALLELE_ID=33011;SYMBOL=SERPINA1;HGVS_C=NM_001127701.1:c.514G>A;HGVS_P=NP_001121173.1:p.Gly172Arg;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.514G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=PI_M(NICHINAN)|PI_M(NICHINAN);ALL_PMIDS=2309708|6162902;ORIGIN=germline;XREFS=OMIM:107400.0017;DATES_ORDERED=2016-07-15 14 94849345 . GAGA G . . START=94849346;STOP=94849348;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=17972;RCV=RCV000019572;SCV=SCV000039869;ALLELE_ID=321860;SYMBOL=SERPINA1;HGVS_C=NM_001127701.1:c.227_229delTCT;HGVS_P=NP_001121173.1:p.Phe76del;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.227_229delTCT:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=PI_M(NICHINAN)|PI_M(NICHINAN);ALL_PMIDS=2309708|6162902;ORIGIN=germline;XREFS=OMIM:107400.0017;DATES_ORDERED=2016-07-15 14 94849385 . G T . . START=94849385;STOP=94849385;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440501;RCV=RCV000508836;SCV=SCV000605936;ALLELE_ID=434128;SYMBOL=SERPINA1;HGVS_C=NM_001127701.1:c.190C>A;HGVS_P=NP_001121173.1:p.Gln64Lys;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.190C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_13..2015;ALL_SUBMITTERS=HerediLab..Inc.;SUBMITTERS_ORDERED=HerediLab..Inc.;ALL_TRAITS=Alpha-1-antitrypsin_deficiency|Alpha-1_Antitrypsin_Deficiency;ALL_PMIDS=15685488|20301692|24121147;ORIGIN=germline;XREFS=GeneReviews:NBK1519|Genetic_Alliance:Alpha+1-Antitrypsin+Deficiency/325|MedGen:C0221757|OMIM:613490|Office_of_Rare_Diseases:5784|Orphanet:60|SNOMED_CT:30188007;DATES_ORDERED=2015-11-13 14 94849388 . G A . . START=94849388;STOP=94849388;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=219354;RCV=RCV000205893;SCV=SCV000259189;ALLELE_ID=33013;SYMBOL=SERPINA1;HGVS_C=NM_001127701.1:c.187C>T;HGVS_P=NP_001121173.1:p.Arg63Cys;MOLECULAR_CONSEQUENCE=NM_001127701.1:c.187C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_11..2016;ALL_SUBMITTERS=HerediLab..Inc.;SUBMITTERS_ORDERED=HerediLab..Inc.;ALL_TRAITS=Alpha-1-antitrypsin_deficiency;ALL_PMIDS=15685488|20301692|24121147;ORIGIN=germline;XREFS=GeneReviews:NBK1519|Genetic_Alliance:Alpha+1-Antitrypsin+Deficiency/325|MedGen:C0221757|OMIM:613490|Office_of_Rare_Diseases:5784|Orphanet:60|SNOMED_CT:30188007;DATES_ORDERED=2015-07-23 +15 40763815 . C G . . START=40763815;STOP=40763815;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=446172;RCV=RCV000002428;SCV=SCV000022586;ALLELE_ID=439519;SYMBOL=CHST14;HGVS_C=NM_130468.3:c.403C>G;HGVS_P=NP_569735.1:p.Arg135Gly;MOLECULAR_CONSEQUENCE=NM_130468.3:c.403C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_01..2009;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..musculocontractural_type|EHLERS-DANLOS_SYNDROME..MUSCULOCONTRACTURAL_TYPE..1;ALL_PMIDS=11666007|20004762;ORIGIN=germline;XREFS=Genetic_Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216|Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C1866294|OMIM:601776|Orphanet:2953;DATES_ORDERED=2009-12-01 +15 40763822 . T A . . START=40763822;STOP=40763822;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=446172;RCV=RCV000002428;SCV=SCV000022586;ALLELE_ID=439520;SYMBOL=CHST14;HGVS_C=NM_130468.3:c.410T>A;HGVS_P=NP_569735.1:p.Leu137Gln;MOLECULAR_CONSEQUENCE=NM_130468.3:c.410T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_01..2009;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..musculocontractural_type|EHLERS-DANLOS_SYNDROME..MUSCULOCONTRACTURAL_TYPE..1;ALL_PMIDS=11666007|20004762;ORIGIN=germline;XREFS=Genetic_Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216|Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C1866294|OMIM:601776|Orphanet:2953;DATES_ORDERED=2009-12-01 +15 49037145 . CGTT C . . START=49037146;STOP=49037148;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446758;RCV=RCV000077752;SCV=SCV000109558;ALLELE_ID=97524;SYMBOL=CEP152;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_01..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Primary_autosomal_recessive_microcephaly_9|MICROCEPHALY_9..PRIMARY..AUTOSOMAL_RECESSIVE;ALL_PMIDS=20301772|22775483;ORIGIN=germline;XREFS=GeneReviews:NBK9587|GeneTests:279904|MedGen:C3553886|OMIM:614852|Orphanet:2512;DATES_ORDERED=2013-05-01 +15 49048296 . A G . . START=49048296;STOP=49048296;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446758;RCV=RCV000077752;SCV=SCV000109558;ALLELE_ID=97321;SYMBOL=CEP152;HGVS_C=NM_001194998.1:c.3149T>C;HGVS_P=NP_001181927.1:p.Leu1050Pro;MOLECULAR_CONSEQUENCE=NM_001194998.1:c.3149T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_01..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Primary_autosomal_recessive_microcephaly_9|MICROCEPHALY_9..PRIMARY..AUTOSOMAL_RECESSIVE;ALL_PMIDS=20301772|22775483;ORIGIN=germline;XREFS=GeneReviews:NBK9587|GeneTests:279904|MedGen:C3553886|OMIM:614852|Orphanet:2512;DATES_ORDERED=2013-05-01 15 50782626 . T G . . START=50782626;STOP=50782626;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=161994;RCV=RCV000149419;SCV=SCV000192010;ALLELE_ID=171716;SYMBOL=USP8;HGVS_C=NM_005154.4:c.2138T>G;HGVS_P=NP_005145.3:p.Leu713Arg;MOLECULAR_CONSEQUENCE=NM_001128610.2:c.2138T>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_18..2014;ALL_SUBMITTERS=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar;ALL_TRAITS=Pituitary_dependent_hypercortisolism|Pituitary_dependent_hypercortisolism;ALL_PMIDS=22720333;ORIGIN=somatic;XREFS=GeneReviews:NBK97965|Genetic_Alliance:Pituitary+dependent+hypercortisolism/9118|MedGen:C0221406|OMIM:219090|Orphanet:96253|SNOMED_CT:190502001;DATES_ORDERED=2014-11-18 15 50782638 . A G . . START=50782638;STOP=50782638;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=161994;RCV=RCV000149419;SCV=SCV000192010;ALLELE_ID=171717;SYMBOL=USP8;HGVS_C=NM_005154.4:c.2150A>G;HGVS_P=NP_005145.3:p.Tyr717Cys;MOLECULAR_CONSEQUENCE=NM_001128610.2:c.2150A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_18..2014;ALL_SUBMITTERS=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar;SUBMITTERS_ORDERED=Institute_of_Human_Genetics..Klinikum_rechts_der_Isar;ALL_TRAITS=Pituitary_dependent_hypercortisolism|Pituitary_dependent_hypercortisolism;ALL_PMIDS=22720333;ORIGIN=somatic;XREFS=GeneReviews:NBK97965|Genetic_Alliance:Pituitary+dependent+hypercortisolism/9118|MedGen:C0221406|OMIM:219090|Orphanet:96253|SNOMED_CT:190502001;DATES_ORDERED=2014-11-18 15 51250689 . G A . . START=51250689;STOP=51250689;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=224506;RCV=RCV000210065;SCV=SCV000265991;ALLELE_ID=226246;SYMBOL=AP4E1;HGVS_C=NM_007347.4:c.1549G>A;HGVS_P=NP_031373.2:p.Val517Ile;MOLECULAR_CONSEQUENCE=NM_007347.4:c.1549G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_16..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Stuttering..familial_persistent_1|STUTTERING..FAMILIAL_PERSISTENT..1;ALL_PMIDS=23239121|26544806;ORIGIN=germline;XREFS=Gene:100049541|MedGen:C3489627|OMIM:184450;DATES_ORDERED=2016-03-16 15 51289577 . G A . . START=51289577;STOP=51289577;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=224506;RCV=RCV000210065;SCV=SCV000265991;ALLELE_ID=226245;SYMBOL=AP4E1;HGVS_C=NM_007347.4:c.2401G>A;HGVS_P=NP_031373.2:p.Glu801Lys;MOLECULAR_CONSEQUENCE=NM_007347.4:c.2401G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_16..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Stuttering..familial_persistent_1|STUTTERING..FAMILIAL_PERSISTENT..1;ALL_PMIDS=23239121|26544806;ORIGIN=germline;XREFS=Gene:100049541|MedGen:C3489627|OMIM:184450;DATES_ORDERED=2016-03-16 -15 89866657 . C G . . START=89866657;STOP=89866657;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=157526;RCV=RCV000144870;SCV=SCV000172142;ALLELE_ID=28546;SYMBOL=POLG;HGVS_C=NM_002693.2:c.2243G>C;HGVS_P=NP_002684.1:p.Trp748Ser;MOLECULAR_CONSEQUENCE=NM_002693.2:c.2243G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_07..2017;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|Charcot-Marie-Tooth_disease;ALL_PMIDS=15477547|15824347|20301532|22189570|25025039|28812649;ORIGIN=not_applicable;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01 -15 89870237 . C G . . START=89870237;STOP=89870237;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=157526;RCV=RCV000144870;SCV=SCV000172142;ALLELE_ID=28549;SYMBOL=POLG;HGVS_C=NM_002693.2:c.1491G>C;HGVS_P=NP_002684.1:p.Gln497His;MOLECULAR_CONSEQUENCE=NM_002693.2:c.1491G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_11..2016;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|Charcot-Marie-Tooth_disease;ALL_PMIDS=15477547|15824347|20301532|22189570|25025039|28812649;ORIGIN=not_applicable;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01 +15 72643548 . C T . . START=72643548;STOP=72643548;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446267;RCV=RCV000004129;SCV=SCV000024295;ALLELE_ID=38431;SYMBOL=HEXA;HGVS_C=NM_000520.5:c.598G>A;HGVS_P=NP_000511.2:p.Val200Met;MOLECULAR_CONSEQUENCE=NM_000520.5:c.598G>A:missense_variant|NR_134869.1:n.1099G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..1996;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Tay-Sachs_disease..B1_variant|TAY-SACHS_DISEASE..B1_VARIANT;ALL_PMIDS=1415222|2976595|8198136|8659543;ORIGIN=germline;XREFS=MedGen:C1848916;DATES_ORDERED=1996-07-01 +15 72643572 . C G . . START=72643572;STOP=72643572;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=446267;RCV=RCV000004129;SCV=SCV000024295;ALLELE_ID=18962;SYMBOL=HEXA;HGVS_C=NM_000520.5:c.574G>C;HGVS_P=NP_000511.2:p.Val192Leu;MOLECULAR_CONSEQUENCE=NM_000520.5:c.574G>C:missense_variant|NR_134869.1:n.1075G>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..1996;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Tay-Sachs_disease..B1_variant|TAY-SACHS_DISEASE..B1_VARIANT;ALL_PMIDS=1415222|2976595|8198136|8659543;ORIGIN=germline;XREFS=MedGen:C1848916;DATES_ORDERED=1996-07-01 +15 89866657 . C G . . START=89866657;STOP=89866657;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=157526;RCV=RCV000144870;SCV=SCV000172142;ALLELE_ID=28546;SYMBOL=POLG;HGVS_C=NM_002693.2:c.2243G>C;HGVS_P=NP_002684.1:p.Trp748Ser;MOLECULAR_CONSEQUENCE=NM_002693.2:c.2243G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2017;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|Charcot-Marie-Tooth_disease;ALL_PMIDS=15477547|15824347|20301532|22189570|25025039|28812649;ORIGIN=not_applicable;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01 +15 89870237 . C G . . START=89870237;STOP=89870237;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=157526;RCV=RCV000144870;SCV=SCV000172142;ALLELE_ID=28549;SYMBOL=POLG;HGVS_C=NM_002693.2:c.1491G>C;HGVS_P=NP_002684.1:p.Gln497His;MOLECULAR_CONSEQUENCE=NM_002693.2:c.1491G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_21..2017;ALL_SUBMITTERS=Section_of_Medical_Genetics..Telemark_Hospital;SUBMITTERS_ORDERED=Section_of_Medical_Genetics..Telemark_Hospital;ALL_TRAITS=Charcot-Marie-Tooth_disease|axonal_type|Charcot-Marie-Tooth_disease;ALL_PMIDS=15477547|15824347|20301532|22189570|25025039|28812649;ORIGIN=not_applicable;XREFS=GeneReviews:NBK1358|Genetic_Alliance:Charcot-Marie-Tooth+Disease/1276|Genetics_Home_Reference:charcot-marie-tooth-disease|MedGen:C0007959|OMIM:PS118220|Office_of_Rare_Diseases:6034|SNOMED_CT:50548001;DATES_ORDERED=2013-11-01 16 223509 . C G . . START=223509;STOP=223509;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=375745;RCV=RCV000417222;SCV=SCV000503054;ALLELE_ID=362631;SYMBOL=HBA2;HGVS_C=NM_000517.4:c.339C>G;HGVS_P=NP_000508.1:p.His113Gln;MOLECULAR_CONSEQUENCE=NM_000517.4:c.339C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_29..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=alpha_Thalassemia;ALL_PMIDS=20301608|25052315|8735302;ORIGIN=germline;XREFS=GeneReviews:NBK1435|Genetic_Alliance:Alpha-Thalassemia/333|MedGen:C0002312|OMIM:604131|Orphanet:846|SNOMED_CT:68913001;DATES_ORDERED=2016-12-29 16 223509 . CCTCCCCGCCGAG C . . START=223510;STOP=223521;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=375745;RCV=RCV000417222;SCV=SCV000503054;ALLELE_ID=362632;SYMBOL=HBA2;HGVS_C=NM_000517.4:c.340_351delCTCCCCGCCGAG;HGVS_P=NP_000508.1:p.Leu114_Glu117del;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_29..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=alpha_Thalassemia;ALL_PMIDS=20301608|25052315|8735302;ORIGIN=germline;XREFS=GeneReviews:NBK1435|Genetic_Alliance:Alpha-Thalassemia/333|MedGen:C0002312|OMIM:604131|Orphanet:846|SNOMED_CT:68913001;DATES_ORDERED=2016-12-29 -16 227067 . A G . . START=227067;STOP=227067;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=15762;RCV=RCV000017073;SCV=SCV000037345;ALLELE_ID=30800;SYMBOL=HBA1;HGVS_C=NM_000558.4:c.235A>G;HGVS_P=NP_000549.1:p.Asn79Asp;MOLECULAR_CONSEQUENCE=NM_000558.4:c.235A>G:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_J_(SINGAPORE)|HEMOGLOBIN_J_(SINGAPORE);ALL_PMIDS=5085670;ORIGIN=germline;XREFS=OMIM:141800.0075;DATES_ORDERED=2016-07-20 +16 227067 . A G . . START=227067;STOP=227067;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=15762;RCV=RCV000017073;SCV=SCV000037345;ALLELE_ID=30800;SYMBOL=HBA1;HGVS_C=NM_000558.4:c.235A>G;HGVS_P=NP_000549.1:p.Asn79Asp;MOLECULAR_CONSEQUENCE=NM_000558.4:c.235A>G:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_J_(SINGAPORE)|HEMOGLOBIN_J_(SINGAPORE);ALL_PMIDS=5085670;ORIGIN=germline;XREFS=OMIM:141800.0075;DATES_ORDERED=2016-07-20 16 227071 . C G . . START=227071;STOP=227071;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=15762;RCV=RCV000017073;SCV=SCV000037345;ALLELE_ID=38474;SYMBOL=HBA1;HGVS_C=NM_000558.4:c.239C>G;HGVS_P=NP_000549.1:p.Ala80Gly;MOLECULAR_CONSEQUENCE=NM_000558.4:c.239C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_20..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HEMOGLOBIN_J_(SINGAPORE)|HEMOGLOBIN_J_(SINGAPORE);ALL_PMIDS=5085670;ORIGIN=germline;XREFS=OMIM:141800.0075;DATES_ORDERED=2016-07-20 16 1254325 . G A . . START=1254325;STOP=1254325;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=2704;RCV=RCV000002823;SCV=SCV000022981;ALLELE_ID=17743;SYMBOL=CACNA1H;HGVS_C=NM_021098.2:c.2318G>A;HGVS_P=NP_066921.2:p.Gly773Asp;MOLECULAR_CONSEQUENCE=NM_021098.2:c.2318G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_11..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Epilepsy..childhood_absence_6|EPILEPSY..CHILDHOOD_ABSENCE..SUSCEPTIBILITY_TO..6;ALL_PMIDS=12891677|15888660;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+childhood+absence+6/8325|MedGen:C2749872|OMIM:611942|Orphanet:64280;DATES_ORDERED=2005-05-11 16 1254369 . C T . . START=1254369;STOP=1254369;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=2704;RCV=RCV000002823;SCV=SCV000022981;ALLELE_ID=38427;SYMBOL=CACNA1H;HGVS_C=NM_021098.2:c.2362C>T;HGVS_P=NP_066921.2:p.Arg788Cys;MOLECULAR_CONSEQUENCE=NM_021098.2:c.2362C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_03..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Epilepsy..childhood_absence_6|EPILEPSY..CHILDHOOD_ABSENCE..SUSCEPTIBILITY_TO..6;ALL_PMIDS=12891677|15888660;ORIGIN=germline;XREFS=Genetic_Alliance:Epilepsy%2C+childhood+absence+6/8325|MedGen:C2749872|OMIM:611942|Orphanet:64280;DATES_ORDERED=2005-05-11 @@ -460,31 +499,33 @@ 16 2134583 . AGTGGCCTCCGGC A . . START=2134584;STOP=2134595;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=65324;RCV=RCV000055548;SCV=SCV000083772;ALLELE_ID=76257;SYMBOL=TSC2;HGVS_C=NM_000548.4:c.4361_4372delGTGGCCTCCGGC;HGVS_P=NP_000539.2:p.Ser1454_Pro1458delinsThr;MOLECULAR_CONSEQUENCE=NM_000548.4:c.4361_4372delGTGGCCTCCGGC:inframe_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);SUBMITTERS_ORDERED=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=11468687|20301399|23519317|23788249|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000;DATES_ORDERED=0000-00-00 16 2135279 . TACGACACCC T . . START=2135282;STOP=2135290;VARIATION_TYPE=Haplotype;VARIATION_ID=65183;RCV=RCV000055400;SCV=SCV000083621;ALLELE_ID=76115;HGVS_C=NM_000548.4:c.4621_4629delGACACCCAC;HGVS_P=NP_000539.2:p.Asp1541_His1543del;MOLECULAR_CONSEQUENCE=NM_000548.4:c.4621_4629delGACACCCAC:inframe_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Tuberous_sclerosis_database_(TSC2);SUBMITTERS_ORDERED=Tuberous_sclerosis_database_(TSC2);ALL_TRAITS=Tuberous_sclerosis_syndrome|TSC;ALL_PMIDS=20301399|23519317|23788249|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1220|MedGen:C0041341|OMIM:191100|OMIM:PS191100|SNOMED_CT:7199000;DATES_ORDERED=0000-00-00 16 3293405 . C T . . START=3293405;STOP=3293405;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=2555;RCV=RCV000002664;SCV=SCV000022822;ALLELE_ID=17578;SYMBOL=MEFV;HGVS_C=NM_000243.2:c.2082G>A;HGVS_P=NP_000234.1:p.Met694Ile;MOLECULAR_CONSEQUENCE=NM_000243.2:c.2082G>A:missense_variant|NM_001198536.1:c.*286G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_mediterranean_fever..autosomal_dominant|FAMILIAL_MEDITERRANEAN_FEVER..AUTOSOMAL_DOMINANT;ALL_PMIDS=10024914|10090880|10364520|10612841|10787449|10980540|11484206|11938447|12401847|12929299|12955725|15942916|16255051|17331080|18097735|19967574|20041150|20301405|20534143|9668175;ORIGIN=germline;XREFS=GeneReviews:NBK1227|Genetic_Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401|MedGen:C1851347|OMIM:134610|Orphanet:342;DATES_ORDERED=2000-04-01 -16 3304626 . C G . . START=3304626;STOP=3304626;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=2555;RCV=RCV000002664;SCV=SCV000022822;ALLELE_ID=17581;SYMBOL=MEFV;HGVS_C=NM_000243.2:c.442G>C;HGVS_P=NP_000234.1:p.Glu148Gln;MOLECULAR_CONSEQUENCE=NM_000243.2:c.442G>C:missense_variant|NM_001198536.1:c.277+1685G>C:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_30..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_mediterranean_fever..autosomal_dominant|FAMILIAL_MEDITERRANEAN_FEVER..AUTOSOMAL_DOMINANT;ALL_PMIDS=10024914|10090880|10364520|10612841|10787449|10980540|11484206|11938447|12401847|12929299|12955725|15942916|16255051|17331080|18097735|19967574|20041150|20301405|20534143|9668175;ORIGIN=germline;XREFS=GeneReviews:NBK1227|Genetic_Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401|MedGen:C1851347|OMIM:134610|Orphanet:342;DATES_ORDERED=2000-04-01 +16 3304626 . C G . . START=3304626;STOP=3304626;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=2555;RCV=RCV000002664;SCV=SCV000022822;ALLELE_ID=17581;SYMBOL=MEFV;HGVS_C=NM_000243.2:c.442G>C;HGVS_P=NP_000234.1:p.Glu148Gln;MOLECULAR_CONSEQUENCE=NM_000243.2:c.442G>C:missense_variant|NM_001198536.1:c.277+1685G>C:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_29..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_mediterranean_fever..autosomal_dominant|FAMILIAL_MEDITERRANEAN_FEVER..AUTOSOMAL_DOMINANT;ALL_PMIDS=10024914|10090880|10364520|10612841|10787449|10980540|11484206|11938447|12401847|12929299|12955725|15942916|16255051|17331080|18097735|19967574|20041150|20301405|20534143|9668175;ORIGIN=germline;XREFS=GeneReviews:NBK1227|Genetic_Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401|MedGen:C1851347|OMIM:134610|Orphanet:342;DATES_ORDERED=2000-04-01 16 14687212 . A AT . . START=14687213;STOP=14687213;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=180663;RCV=RCV000162315;SCV=SCV000206799;ALLELE_ID=178829;SYMBOL=PARN;HGVS_C=NM_002582.3:c.863dupA;HGVS_P=NP_002573.1:p.Asn288Lysfs;MOLECULAR_CONSEQUENCE=NM_002582.3:c.863dupA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_13..2015;ALL_SUBMITTERS=Bone_Marrow_Failure_laboratory..Queen_Mary_University_London;SUBMITTERS_ORDERED=Bone_Marrow_Failure_laboratory..Queen_Mary_University_London;ALL_TRAITS=Dyskeratosis_congenita|Dyskeratosis_congenita;ALL_PMIDS=20301779;ORIGIN=germline;XREFS=GeneReviews:NBK22301|Genetic_Alliance:Dyskeratosis+congenita/9566|MedGen:C0265965|OMIM:PS127550|SNOMED_CT:74911008;DATES_ORDERED=2015-02-04 -16 14702130 . ATACT A . . START=14702131;STOP=14702134;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=180663;RCV=RCV000162315;SCV=SCV000206799;ALLELE_ID=178830;SYMBOL=PARN;HGVS_C=NM_002582.3:c.659+4_659+7delAGTA;MOLECULAR_CONSEQUENCE=NM_002582.3:c.659+4_659+7delAGTA:intron_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_12..2015;ALL_SUBMITTERS=Bone_Marrow_Failure_laboratory..Queen_Mary_University_London;SUBMITTERS_ORDERED=Bone_Marrow_Failure_laboratory..Queen_Mary_University_London;ALL_TRAITS=Dyskeratosis_congenita|Dyskeratosis_congenita;ALL_PMIDS=20301779;ORIGIN=germline;XREFS=GeneReviews:NBK22301|Genetic_Alliance:Dyskeratosis+congenita/9566|MedGen:C0265965|OMIM:PS127550|SNOMED_CT:74911008;DATES_ORDERED=2015-02-04 +16 14702130 . ATACT A . . START=14702131;STOP=14702134;STRAND=-;VARIATION_TYPE=Phase_unknown;VARIATION_ID=180663;RCV=RCV000162315;SCV=SCV000206799;ALLELE_ID=178830;SYMBOL=PARN;HGVS_C=NM_002582.3:c.659+4_659+7delAGTA;MOLECULAR_CONSEQUENCE=NM_002582.3:c.659+4_659+7delAGTA:intron_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_12..2015;ALL_SUBMITTERS=Bone_Marrow_Failure_laboratory..Queen_Mary_University_London;SUBMITTERS_ORDERED=Bone_Marrow_Failure_laboratory..Queen_Mary_University_London;ALL_TRAITS=Dyskeratosis_congenita|Dyskeratosis_congenita;ALL_PMIDS=20301779;ORIGIN=germline;XREFS=GeneReviews:NBK22301|Genetic_Alliance:Dyskeratosis+congenita/9566|MedGen:C0265965|OMIM:PS127550|SNOMED_CT:74911008;DATES_ORDERED=2015-02-04 16 15812194 . C T . . START=15812194;STOP=15812194;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14131;RCV=RCV000015192;SCV=SCV000035449;ALLELE_ID=29170;SYMBOL=MYH11;HGVS_C=NM_001040113.1:c.5294G>A;HGVS_P=NP_001035202.1:p.Arg1765Gln;MOLECULAR_CONSEQUENCE=NM_001040113.1:c.5294G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_03..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Aortic_aneurysm..familial_thoracic_4|AORTIC_ANEURYSM..FAMILIAL_THORACIC_4;ALL_PMIDS=14722581|16444274|20301299|23788249|24882528|25173340|25356965|27854360;ORIGIN=germline;XREFS=Genetic_Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532|Genetic_Testing_Registry_(GTR):GTR000330980|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:C1851504|OMIM:132900|Office_of_Rare_Diseases:9876;DATES_ORDERED=2006-03-01 16 15815278 . C A . . START=15815278;STOP=15815278;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=14131;RCV=RCV000015192;SCV=SCV000035449;ALLELE_ID=75290;SYMBOL=MYH11;HGVS_C=NM_001040113.1:c.4599+1G>T;MOLECULAR_CONSEQUENCE=NM_001040113.1:c.4599+1G>T:splice_donor_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Aortic_aneurysm..familial_thoracic_4|AORTIC_ANEURYSM..FAMILIAL_THORACIC_4;ALL_PMIDS=14722581|16444274|20301299|23788249|24882528|25173340|25356965|27854360;ORIGIN=germline;XREFS=Genetic_Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532|Genetic_Testing_Registry_(GTR):GTR000330980|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:C1851504|OMIM:132900|Office_of_Rare_Diseases:9876;DATES_ORDERED=2006-03-01 16 15820739 . C A . . START=15820739;STOP=15820739;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440783;RCV=RCV000015194;SCV=SCV000035451;ALLELE_ID=29173;SYMBOL=MYH11;HGVS_C=NM_001040114.1:c.3845G>T;HGVS_P=NP_001035203.1:p.Arg1282Leu;MOLECULAR_CONSEQUENCE=NM_001040113.1:c.3845G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_29..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Aortic_aneurysm..familial_thoracic_4|AORTIC_ANEURYSM..FAMILIAL_THORACIC_4;ALL_PMIDS=17666408|20301299|23788249|24882528|25173340|25356965|27854360;ORIGIN=germline;XREFS=Genetic_Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532|Genetic_Testing_Registry_(GTR):GTR000330980|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:C1851504|OMIM:132900|Office_of_Rare_Diseases:9876;DATES_ORDERED=2007-10-15 16 15820772 . A G . . START=15820772;STOP=15820772;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440783;RCV=RCV000015194;SCV=SCV000035451;ALLELE_ID=94510;SYMBOL=MYH11;HGVS_C=NM_001040113.1:c.3812T>C;HGVS_P=NP_001035202.1:p.Leu1271Pro;MOLECULAR_CONSEQUENCE=NM_001040113.1:c.3812T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_28..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Aortic_aneurysm..familial_thoracic_4|AORTIC_ANEURYSM..FAMILIAL_THORACIC_4;ALL_PMIDS=17666408|20301299|23788249|24882528|25173340|25356965|27854360;ORIGIN=germline;XREFS=Genetic_Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532|Genetic_Testing_Registry_(GTR):GTR000330980|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:C1851504|OMIM:132900|Office_of_Rare_Diseases:9876;DATES_ORDERED=2007-10-15 -16 30097630 . C T . . START=30097630;STOP=30097630;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=188053;RCV=RCV000167863;SCV=SCV000218510;ALLELE_ID=255673;SYMBOL=TBX6;HGVS_C=NM_004608.3:c.1227G>A;HGVS_P=NP_004599.2:p.Pro409_eq_;MOLECULAR_CONSEQUENCE=NM_004608.3:c.1227G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_28..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondylocostal_dysostosis_5|SPONDYLOCOSTAL_DYSOSTOSIS_5;ALL_PMIDS=25564734;ORIGIN=germline;XREFS=Genetics_Home_Reference:spondylocostal-dysostosis|MedGen:C1852521|OMIM:122600;DATES_ORDERED=2015-01-22 -16 30102802 . T C . . START=30102802;STOP=30102802;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=188053;RCV=RCV000167863;SCV=SCV000218510;ALLELE_ID=418555;SYMBOL=TBX6;HGVS_C=NM_004608.3:c.-48-240A>G;MOLECULAR_CONSEQUENCE=NM_004608.3:c.-48-240A>G:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_22..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondylocostal_dysostosis_5|SPONDYLOCOSTAL_DYSOSTOSIS_5;ALL_PMIDS=25564734;ORIGIN=germline;XREFS=Genetics_Home_Reference:spondylocostal-dysostosis|MedGen:C1852521|OMIM:122600;DATES_ORDERED=2015-01-22 -16 30103160 . C A . . START=30103160;STOP=30103160;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=188053;RCV=RCV000167863;SCV=SCV000218510;ALLELE_ID=185945;SYMBOL=TBX6;HGVS_C=NM_004608.3:c.-49+34G>T;MOLECULAR_CONSEQUENCE=NM_004608.3:c.-49+34G>T:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_22..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondylocostal_dysostosis_5|SPONDYLOCOSTAL_DYSOSTOSIS_5;ALL_PMIDS=25564734;ORIGIN=germline;XREFS=Genetics_Home_Reference:spondylocostal-dysostosis|MedGen:C1852521|OMIM:122600;DATES_ORDERED=2015-01-22 -16 47730319 . T C . . START=47730319;STOP=47730319;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13621;RCV=RCV000014591;SCV=SCV000034845;ALLELE_ID=28660;SYMBOL=PHKB;HGVS_C=NM_000293.2:c.2923T>C;HGVS_P=NP_000284.1:p.Tyr975His;MOLECULAR_CONSEQUENCE=NM_000293.2:c.2923T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Glycogen_storage_disease_IXb|GLYCOGEN_STORAGE_DISEASE_IXb;ALL_PMIDS=21634085|9215682;ORIGIN=germline;XREFS=GeneReviews:NBK55061|Genetic_Alliance:Glycogen+storage+disease+IXb/8483|MedGen:C1849812|OMIM:261750|Orphanet:79240;DATES_ORDERED=1997-07-01 -16 47730322 . G T . . START=47730322;STOP=47730322;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13621;RCV=RCV000014591;SCV=SCV000034845;ALLELE_ID=38463;SYMBOL=PHKB;HGVS_C=NM_000293.2:c.2926G>T;HGVS_P=NP_000284.1:p.Glu976Ter;MOLECULAR_CONSEQUENCE=NM_000293.2:c.2926G>T:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Glycogen_storage_disease_IXb|GLYCOGEN_STORAGE_DISEASE_IXb;ALL_PMIDS=21634085|9215682;ORIGIN=germline;XREFS=GeneReviews:NBK55061|Genetic_Alliance:Glycogen+storage+disease+IXb/8483|MedGen:C1849812|OMIM:261750|Orphanet:79240;DATES_ORDERED=1997-07-01 +16 30097630 . C T . . START=30097630;STOP=30097630;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=188053;RCV=RCV000167863;SCV=SCV000218510;ALLELE_ID=255673;SYMBOL=TBX6;HGVS_C=NM_004608.3:c.1227G>A;HGVS_P=NP_004599.2:p.Pro409_eq_;MOLECULAR_CONSEQUENCE=NM_004608.3:c.1227G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_28..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondylocostal_dysostosis_5|SPONDYLOCOSTAL_DYSOSTOSIS_5;ALL_PMIDS=20301771|25564734;ORIGIN=germline;XREFS=GeneReviews:NBK8828|Genetics_Home_Reference:spondylocostal-dysostosis|MedGen:C1852521|OMIM:122600;DATES_ORDERED=2015-01-22 +16 30102802 . T C . . START=30102802;STOP=30102802;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=188053;RCV=RCV000167863;SCV=SCV000218510;ALLELE_ID=418555;SYMBOL=TBX6;HGVS_C=NM_004608.3:c.-48-240A>G;MOLECULAR_CONSEQUENCE=NM_004608.3:c.-48-240A>G:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_22..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondylocostal_dysostosis_5|SPONDYLOCOSTAL_DYSOSTOSIS_5;ALL_PMIDS=20301771|25564734;ORIGIN=germline;XREFS=GeneReviews:NBK8828|Genetics_Home_Reference:spondylocostal-dysostosis|MedGen:C1852521|OMIM:122600;DATES_ORDERED=2015-01-22 +16 30103160 . C A . . START=30103160;STOP=30103160;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=188053;RCV=RCV000167863;SCV=SCV000218510;ALLELE_ID=185945;SYMBOL=TBX6;HGVS_C=NM_004608.3:c.-49+34G>T;MOLECULAR_CONSEQUENCE=NM_004608.3:c.-49+34G>T:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_22..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondylocostal_dysostosis_5|SPONDYLOCOSTAL_DYSOSTOSIS_5;ALL_PMIDS=20301771|25564734;ORIGIN=germline;XREFS=GeneReviews:NBK8828|Genetics_Home_Reference:spondylocostal-dysostosis|MedGen:C1852521|OMIM:122600;DATES_ORDERED=2015-01-22 +16 47730319 . T C . . START=47730319;STOP=47730319;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13621;RCV=RCV000014591;SCV=SCV000034845;ALLELE_ID=28660;SYMBOL=PHKB;HGVS_C=NM_000293.2:c.2923T>C;HGVS_P=NP_000284.1:p.Tyr975His;MOLECULAR_CONSEQUENCE=NM_000293.2:c.2923T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Glycogen_storage_disease_IXb|GLYCOGEN_STORAGE_DISEASE_IXb;ALL_PMIDS=21634085|9215682;ORIGIN=germline;XREFS=GeneReviews:NBK55061|Genetic_Alliance:Glycogen+storage+disease+IXb/8483|MedGen:C0543514|OMIM:261750|Orphanet:79240;DATES_ORDERED=1997-07-01 +16 47730322 . G T . . START=47730322;STOP=47730322;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13621;RCV=RCV000014591;SCV=SCV000034845;ALLELE_ID=38463;SYMBOL=PHKB;HGVS_C=NM_000293.2:c.2926G>T;HGVS_P=NP_000284.1:p.Glu976Ter;MOLECULAR_CONSEQUENCE=NM_000293.2:c.2926G>T:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Glycogen_storage_disease_IXb|GLYCOGEN_STORAGE_DISEASE_IXb;ALL_PMIDS=21634085|9215682;ORIGIN=germline;XREFS=GeneReviews:NBK55061|Genetic_Alliance:Glycogen+storage+disease+IXb/8483|MedGen:C0543514|OMIM:261750|Orphanet:79240;DATES_ORDERED=1997-07-01 16 56902267 . C T . . START=56902267;STOP=56902267;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=8596;RCV=RCV000009127;SCV=SCV000029344;ALLELE_ID=23635;SYMBOL=SLC12A3;HGVS_C=NM_000339.2:c.488C>T;HGVS_P=NP_000330.2:p.Thr163Met;MOLECULAR_CONSEQUENCE=NM_000339.2:c.488C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_26..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_hypokalemia-hypomagnesemia|GITELMAN_SYNDROME;ALL_PMIDS=17000984|21343949;ORIGIN=germline;XREFS=Genetic_Alliance:Familial+hypokalemia-hypomagnesemia/8399|MedGen:C0268450|OMIM:263800|Orphanet:358|SNOMED_CT:3188003;DATES_ORDERED=2006-09-26 16 56928506 . G A . . START=56928506;STOP=56928506;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=8596;RCV=RCV000009127;SCV=SCV000029344;ALLELE_ID=38443;SYMBOL=SLC12A3;HGVS_C=NM_000339.2:c.2612G>A;HGVS_P=NP_000330.2:p.Arg871His;MOLECULAR_CONSEQUENCE=NM_000339.2:c.2612G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_26..2006;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_hypokalemia-hypomagnesemia|GITELMAN_SYNDROME;ALL_PMIDS=17000984|21343949;ORIGIN=germline;XREFS=Genetic_Alliance:Familial+hypokalemia-hypomagnesemia/8399|MedGen:C0268450|OMIM:263800|Orphanet:358|SNOMED_CT:3188003;DATES_ORDERED=2006-09-26 16 67976470 . G A . . START=67976470;STOP=67976470;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=3667;RCV=RCV000003852;SCV=SCV000024017;ALLELE_ID=38429;SYMBOL=LCAT;HGVS_C=NM_000229.1:c.544C>T;HGVS_P=NP_000220.1:p.Arg182Cys;MOLECULAR_CONSEQUENCE=NM_000229.1:c.544C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Norum_disease|LCAT_DEFICIENCY;ALL_PMIDS=8432868;ORIGIN=germline;XREFS=Genetic_Alliance:Norum+disease/5271|MedGen:C0023195|OMIM:245900|Office_of_Rare_Diseases:4011|Orphanet:650|Orphanet:79293;DATES_ORDERED=1993-02-01 16 67976842 . C T . . START=67976842;STOP=67976842;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=3667;RCV=RCV000003852;SCV=SCV000024017;ALLELE_ID=18706;SYMBOL=LCAT;HGVS_C=NM_000229.1:c.349G>A;HGVS_P=NP_000220.1:p.Ala117Thr;MOLECULAR_CONSEQUENCE=NM_000229.1:c.349G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Norum_disease|LCAT_DEFICIENCY;ALL_PMIDS=8432868;ORIGIN=germline;XREFS=Genetic_Alliance:Norum+disease/5271|MedGen:C0023195|OMIM:245900|Office_of_Rare_Diseases:4011|Orphanet:650|Orphanet:79293;DATES_ORDERED=1993-02-01 16 88786582 . G A . . START=88786582;STOP=88786582;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=55809;RCV=RCV000049235;SCV=SCV000077488;ALLELE_ID=70465;SYMBOL=PIEZO1;HGVS_C=NM_001142864.3:c.6059C>T;HGVS_P=NP_001136336.2:p.Ala2020Val;MOLECULAR_CONSEQUENCE=NM_001142864.3:c.6059C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_09..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS;ALL_PMIDS=23479567|9718354;ORIGIN=germline;XREFS=Gene:10774|Genetic_Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri|Genetic_Alliance:Stomatocytosis+II/6894|MedGen:C0272051|OMIM:177720|OMIM:194380|OMIM:611184.0003|OMIM:611184.0005|OMIM:611184.0008|Orphanet:3202|SNOMED_CT:87994004;DATES_ORDERED=2013-05-09 16 88793552 . G A . . START=88793552;STOP=88793552;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=55809;RCV=RCV000049235;SCV=SCV000077488;ALLELE_ID=70466;SYMBOL=PIEZO1;HGVS_C=NM_001142864.3:c.3350C>T;HGVS_P=NP_001136336.2:p.Ser1117Leu;MOLECULAR_CONSEQUENCE=NM_001142864.3:c.3350C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_09..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS;ALL_PMIDS=23479567|9718354;ORIGIN=germline;XREFS=Gene:10774|Genetic_Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri|Genetic_Alliance:Stomatocytosis+II/6894|MedGen:C0272051|OMIM:177720|OMIM:194380|OMIM:611184.0003|OMIM:611184.0005|OMIM:611184.0008|Orphanet:3202|SNOMED_CT:87994004;DATES_ORDERED=2013-05-09 -16 88800060 . C T . . START=88800060;STOP=88800060;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=55813;RCV=RCV000049238;SCV=SCV000077491;ALLELE_ID=70476;SYMBOL=PIEZO1;HGVS_C=NM_001142864.3:c.2423G>A;HGVS_P=NP_001136336.2:p.Arg808Gln;MOLECULAR_CONSEQUENCE=NM_001142864.3:c.2423G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_02..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS_WITH_PSEUDOHYPERKALEMIA_AND_PERINATAL_EDEMA;ALL_PMIDS=11001917|23479567|9827909;ORIGIN=germline;XREFS=Gene:10774|Genetic_Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri|Genetic_Alliance:Stomatocytosis+II/6894|MedGen:C0272051|OMIM:177720|OMIM:194380|OMIM:611184.0003|OMIM:611184.0005|OMIM:611184.0008|Orphanet:3202|SNOMED_CT:87994004;DATES_ORDERED=2013-07-02 -16 88800139 . C T . . START=88800139;STOP=88800139;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=55813;RCV=RCV000049238;SCV=SCV000077491;ALLELE_ID=70475;SYMBOL=PIEZO1;HGVS_C=NM_001142864.3:c.2344G>A;HGVS_P=NP_001136336.2:p.Gly782Ser;MOLECULAR_CONSEQUENCE=NM_001142864.3:c.2344G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_02..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS_WITH_PSEUDOHYPERKALEMIA_AND_PERINATAL_EDEMA;ALL_PMIDS=11001917|23479567|9827909;ORIGIN=germline;XREFS=Gene:10774|Genetic_Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri|Genetic_Alliance:Stomatocytosis+II/6894|MedGen:C0272051|OMIM:177720|OMIM:194380|OMIM:611184.0003|OMIM:611184.0005|OMIM:611184.0008|Orphanet:3202|SNOMED_CT:87994004;DATES_ORDERED=2013-07-02 -16 88801252 . G C . . START=88801252;STOP=88801252;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=55813;RCV=RCV000049238;SCV=SCV000077491;ALLELE_ID=70469;SYMBOL=PIEZO1;HGVS_C=NM_001142864.3:c.1848+31C>G;MOLECULAR_CONSEQUENCE=NM_001142864.3:c.1848+31C>G:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_02..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS_WITH_PSEUDOHYPERKALEMIA_AND_PERINATAL_EDEMA;ALL_PMIDS=11001917|23479567|9827909;ORIGIN=germline;XREFS=Gene:10774|Genetic_Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri|Genetic_Alliance:Stomatocytosis+II/6894|MedGen:C0272051|OMIM:177720|OMIM:194380|OMIM:611184.0003|OMIM:611184.0005|OMIM:611184.0008|Orphanet:3202|SNOMED_CT:87994004;DATES_ORDERED=2013-07-02 -17 7918017 . G C . . START=7918017;STOP=7918017;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=9354|9356;RCV=RCV000009948|RCV000009950;SCV=SCV000030169|SCV000030171;ALLELE_ID=24393;SYMBOL=GUCY2D;HGVS_C=NM_000180.3:c.2511G>C;HGVS_P=NP_000171.1:p.Glu837Asp;MOLECULAR_CONSEQUENCE=NM_000180.3:c.2511G>C:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2000;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cone-rod_dystrophy_6|CONE-ROD_DYSTROPHY_6;ALL_PMIDS=10647719|11565546|9097965|9618177|9683616;ORIGIN=germline;XREFS=Genetic_Alliance:Cone-Rod+Dystrophy+6/1771|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1866293|OMIM:601777|Office_of_Rare_Diseases:10117|Office_of_Rare_Diseases:10656|Orphanet:1872;DATES_ORDERED=2000-01-01|1998-08-01 -17 7918018 . C A . . START=7918018;STOP=7918018;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=9354;RCV=RCV000009948;SCV=SCV000030169;ALLELE_ID=38445;SYMBOL=GUCY2D;HGVS_C=NM_000180.3:c.2512C>A;HGVS_P=NP_000171.1:p.Arg838Ser;MOLECULAR_CONSEQUENCE=NM_000180.3:c.2512C>A:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2000;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cone-rod_dystrophy_6|CONE-ROD_DYSTROPHY_6;ALL_PMIDS=10647719|11565546|9097965|9618177;ORIGIN=germline;XREFS=Genetic_Alliance:Cone-Rod+Dystrophy+6/1771|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1866293|OMIM:601777|Office_of_Rare_Diseases:10117|Office_of_Rare_Diseases:10656|Orphanet:1872;DATES_ORDERED=2000-01-01 -17 7918018 . C T . . START=7918018;STOP=7918018;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=9356;RCV=RCV000009950;SCV=SCV000030171;ALLELE_ID=24394;SYMBOL=GUCY2D;HGVS_C=NM_000180.3:c.2512C>T;HGVS_P=NP_000171.1:p.Arg838Cys;MOLECULAR_CONSEQUENCE=NM_000180.3:c.2512C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2003;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cone-rod_dystrophy_6|CONE-ROD_DYSTROPHY_6;ALL_PMIDS=9683616;ORIGIN=germline;XREFS=Genetic_Alliance:Cone-Rod+Dystrophy+6/1771|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1866293|OMIM:601777|Office_of_Rare_Diseases:10117|Office_of_Rare_Diseases:10656|Orphanet:1872;DATES_ORDERED=1998-08-01 -17 7918022 . C T . . START=7918022;STOP=7918022;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=9356;RCV=RCV000009950;SCV=SCV000030171;ALLELE_ID=38391;SYMBOL=GUCY2D;HGVS_C=NM_000180.3:c.2516C>T;HGVS_P=NP_000171.1:p.Thr839Met;MOLECULAR_CONSEQUENCE=NM_000180.3:c.2516C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cone-rod_dystrophy_6|CONE-ROD_DYSTROPHY_6;ALL_PMIDS=9683616;ORIGIN=germline;XREFS=Genetic_Alliance:Cone-Rod+Dystrophy+6/1771|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1866293|OMIM:601777|Office_of_Rare_Diseases:10117|Office_of_Rare_Diseases:10656|Orphanet:1872;DATES_ORDERED=1998-08-01 +16 88800060 . C T . . START=88800060;STOP=88800060;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=55813;RCV=RCV000049238;SCV=SCV000077491;ALLELE_ID=70476;SYMBOL=PIEZO1;HGVS_C=NM_001142864.3:c.2423G>A;HGVS_P=NP_001136336.2:p.Arg808Gln;MOLECULAR_CONSEQUENCE=NM_001142864.3:c.2423G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_09..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS_WITH_PSEUDOHYPERKALEMIA_AND_PERINATAL_EDEMA;ALL_PMIDS=11001917|23479567|9827909;ORIGIN=germline;XREFS=Gene:10774|Genetic_Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri|Genetic_Alliance:Stomatocytosis+II/6894|MedGen:C0272051|OMIM:177720|OMIM:194380|OMIM:611184.0003|OMIM:611184.0005|OMIM:611184.0008|Orphanet:3202|SNOMED_CT:87994004;DATES_ORDERED=2013-05-09 +16 88800139 . C T . . START=88800139;STOP=88800139;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=55813;RCV=RCV000049238;SCV=SCV000077491;ALLELE_ID=70475;SYMBOL=PIEZO1;HGVS_C=NM_001142864.3:c.2344G>A;HGVS_P=NP_001136336.2:p.Gly782Ser;MOLECULAR_CONSEQUENCE=NM_001142864.3:c.2344G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_09..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS_WITH_PSEUDOHYPERKALEMIA_AND_PERINATAL_EDEMA;ALL_PMIDS=11001917|23479567|9827909;ORIGIN=germline;XREFS=Gene:10774|Genetic_Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri|Genetic_Alliance:Stomatocytosis+II/6894|MedGen:C0272051|OMIM:177720|OMIM:194380|OMIM:611184.0003|OMIM:611184.0005|OMIM:611184.0008|Orphanet:3202|SNOMED_CT:87994004;DATES_ORDERED=2013-05-09 +16 88801252 . G C . . START=88801252;STOP=88801252;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=55813;RCV=RCV000049238;SCV=SCV000077491;ALLELE_ID=70469;SYMBOL=PIEZO1;HGVS_C=NM_001142864.3:c.1848+31C>G;MOLECULAR_CONSEQUENCE=NM_001142864.3:c.1848+31C>G:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_09..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Xerocytosis|DEHYDRATED_HEREDITARY_STOMATOCYTOSIS_WITH_PSEUDOHYPERKALEMIA_AND_PERINATAL_EDEMA;ALL_PMIDS=11001917|23479567|9827909;ORIGIN=germline;XREFS=Gene:10774|Genetic_Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri|Genetic_Alliance:Stomatocytosis+II/6894|MedGen:C0272051|OMIM:177720|OMIM:194380|OMIM:611184.0003|OMIM:611184.0005|OMIM:611184.0008|Orphanet:3202|SNOMED_CT:87994004;DATES_ORDERED=2013-05-09 +17 7123838 . C T . . START=7123838;STOP=7123838;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441528;RCV=RCV000001698;SCV=SCV000021854;ALLELE_ID=16670;SYMBOL=ACADVL;HGVS_C=NM_000018.3:c.194C>T;HGVS_P=NP_000009.1:p.Pro65Leu;MOLECULAR_CONSEQUENCE=NM_000018.3:c.194C>T:missense_variant|NM_001033859.2:c.139-85C>T:intron_variant|NM_001270448.1:c.-35C>T:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_04..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Very_long_chain_acyl-CoA_dehydrogenase_deficiency|VLCAD_DEFICIENCY;ALL_PMIDS=10790204|20301763;ORIGIN=germline;XREFS=GeneReviews:NBK6816|Genetic_Alliance:VLCAD+deficiency/7410|MedGen:C3887523|OMIM:201475|Office_of_Rare_Diseases:5508|Orphanet:26793|SNOMED_CT:237996001|SNOMED_CT:237997005;DATES_ORDERED=2000-01-01 +17 7125387 . A C . . START=7125387;STOP=7125387;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441528;RCV=RCV000001698;SCV=SCV000021854;ALLELE_ID=38417;SYMBOL=ACADVL;HGVS_C=NM_000018.3:c.739A>C;HGVS_P=NP_000009.1:p.Lys247Gln;MOLECULAR_CONSEQUENCE=NM_000018.3:c.739A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2000;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Very_long_chain_acyl-CoA_dehydrogenase_deficiency|VLCAD_DEFICIENCY;ALL_PMIDS=10790204|20301763;ORIGIN=germline;XREFS=GeneReviews:NBK6816|Genetic_Alliance:VLCAD+deficiency/7410|MedGen:C3887523|OMIM:201475|Office_of_Rare_Diseases:5508|Orphanet:26793|SNOMED_CT:237996001|SNOMED_CT:237997005;DATES_ORDERED=2000-01-01 +17 7918017 . G C . . START=7918017;STOP=7918017;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=453243|453244;RCV=RCV000009948|RCV000009950;SCV=SCV000030169|SCV000030171;ALLELE_ID=24393;SYMBOL=GUCY2D;HGVS_C=NM_000180.3:c.2511G>C;HGVS_P=NP_000171.1:p.Glu837Asp;MOLECULAR_CONSEQUENCE=NM_000180.3:c.2511G>C:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_15..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cone-rod_dystrophy_6|CONE-ROD_DYSTROPHY_6;ALL_PMIDS=10647719|11565546|9097965|9618177|10951519;ORIGIN=germline;XREFS=Genetic_Alliance:Cone-Rod+Dystrophy+6/1771|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1866293|OMIM:601777|Office_of_Rare_Diseases:10117|Office_of_Rare_Diseases:10656|Orphanet:1872;DATES_ORDERED=2000-01-01|2017-12-15 +17 7918018 . C A . . START=7918018;STOP=7918018;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=453243;RCV=RCV000009948;SCV=SCV000030169;ALLELE_ID=38445;SYMBOL=GUCY2D;HGVS_C=NM_000180.3:c.2512C>A;HGVS_P=NP_000171.1:p.Arg838Ser;MOLECULAR_CONSEQUENCE=NM_000180.3:c.2512C>A:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2000;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cone-rod_dystrophy_6|CONE-ROD_DYSTROPHY_6;ALL_PMIDS=10647719|11565546|9097965|9618177;ORIGIN=germline;XREFS=Genetic_Alliance:Cone-Rod+Dystrophy+6/1771|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1866293|OMIM:601777|Office_of_Rare_Diseases:10117|Office_of_Rare_Diseases:10656|Orphanet:1872;DATES_ORDERED=2000-01-01 +17 7918018 . C T . . START=7918018;STOP=7918018;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=453244;RCV=RCV000009950;SCV=SCV000030171;ALLELE_ID=24394;SYMBOL=GUCY2D;HGVS_C=NM_000180.3:c.2512C>T;HGVS_P=NP_000171.1:p.Arg838Cys;MOLECULAR_CONSEQUENCE=NM_000180.3:c.2512C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_15..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cone-rod_dystrophy_6|CONE-ROD_DYSTROPHY_6;ALL_PMIDS=10951519;ORIGIN=germline;XREFS=Genetic_Alliance:Cone-Rod+Dystrophy+6/1771|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1866293|OMIM:601777|Office_of_Rare_Diseases:10117|Office_of_Rare_Diseases:10656|Orphanet:1872;DATES_ORDERED=2017-12-15 +17 7918022 . C T . . START=7918022;STOP=7918022;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=453244;RCV=RCV000009950;SCV=SCV000030171;ALLELE_ID=38391;SYMBOL=GUCY2D;HGVS_C=NM_000180.3:c.2516C>T;HGVS_P=NP_000171.1:p.Thr839Met;MOLECULAR_CONSEQUENCE=NM_000180.3:c.2516C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_15..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cone-rod_dystrophy_6|CONE-ROD_DYSTROPHY_6;ALL_PMIDS=10951519;ORIGIN=germline;XREFS=Genetic_Alliance:Cone-Rod+Dystrophy+6/1771|Genetics_Home_Reference:cone-rod-dystrophy|MedGen:C1866293|OMIM:601777|Office_of_Rare_Diseases:10117|Office_of_Rare_Diseases:10656|Orphanet:1872;DATES_ORDERED=2017-12-15 17 17118608 . G TC . . START=17118608;STOP=17118608;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=3377;RCV=RCV000003544;SCV=SCV000023702;ALLELE_ID=243924;SYMBOL=FLCN;HGVS_C=NM_144997.5:c.1323delCinsGA;HGVS_P=NP_659434.2:p.His442Thrfs;MOLECULAR_CONSEQUENCE=NM_144997.5:c.1323delCinsGA:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_01..2009;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_fibrofolliculomas|BIRT-HOGG-DUBE_SYNDROME;ALL_PMIDS=19320655|19562744|20301695|24319509|25394175;ORIGIN=germline;XREFS=GeneReviews:NBK1522|Genetic_Alliance:Multiple+fibrofolliculomas/8920|Genetics_Home_Reference:birt-hogg-dube-syndrome|MedGen:C0346010|OMIM:135150|Office_of_Rare_Diseases:2322|Orphanet:122|SNOMED_CT:110985001;DATES_ORDERED=2009-09-01 17 17118626 . AAACTCTGTAAC A . . START=17118627;STOP=17118637;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=3377;RCV=RCV000003544;SCV=SCV000023702;ALLELE_ID=18416;SYMBOL=FLCN;HGVS_C=NM_144997.5:c.1301-7_1304delGTTACAGAGTT;MOLECULAR_CONSEQUENCE=NM_144997.5:c.1301-7_1304delGTTACAGAGTT:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_01..2009;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Multiple_fibrofolliculomas|BIRT-HOGG-DUBE_SYNDROME;ALL_PMIDS=19320655|19562744|20301695|24319509|25394175;ORIGIN=germline;XREFS=GeneReviews:NBK1522|Genetic_Alliance:Multiple+fibrofolliculomas/8920|Genetics_Home_Reference:birt-hogg-dube-syndrome|MedGen:C0346010|OMIM:135150|Office_of_Rare_Diseases:2322|Orphanet:122|SNOMED_CT:110985001;DATES_ORDERED=2009-09-01 17 19561110 . G A . . START=19561110;STOP=19561110;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=438264;RCV=RCV000504796;SCV=SCV000598618;ALLELE_ID=260161;SYMBOL=ALDH3A2;HGVS_C=NM_000382.2:c.733G>A;HGVS_P=NP_000373.1:p.Asp245Asn;MOLECULAR_CONSEQUENCE=NM_000382.2:c.733G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=Rizzo_Lab..University_of_Nebraska_Medical_Center;SUBMITTERS_ORDERED=Rizzo_Lab..University_of_Nebraska_Medical_Center;ALL_TRAITS=Sjögren-Larsson_syndrome|Ichthyosis|Spasticity|Intellectual_disability|Sjogren-Larsson_syndrome;ALL_PMIDS=10577908;ORIGIN=germline;XREFS=Genetic_Alliance:Sjogren-Larsson+syndrome/6627|Genetics_Home_Reference:sjogren-larsson-syndrome|MedGen:C0037231|OMIM:270200|Office_of_Rare_Diseases:7654|Orphanet:816|SNOMED_CT:111303009;DATES_ORDERED=2017-06-01 @@ -492,18 +533,22 @@ 17 19564543 . CT C . . START=19564547;STOP=19564547;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=438264;RCV=RCV000504796;SCV=SCV000598618;ALLELE_ID=431887;SYMBOL=ALDH3A2;HGVS_C=NM_000382.2:c.906delT;HGVS_P=NP_000373.1:p.Phe302Leufs;MOLECULAR_CONSEQUENCE=NM_000382.2:c.906delT:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=Rizzo_Lab..University_of_Nebraska_Medical_Center;SUBMITTERS_ORDERED=Rizzo_Lab..University_of_Nebraska_Medical_Center;ALL_TRAITS=Sjögren-Larsson_syndrome|Ichthyosis|Spasticity|Intellectual_disability|Sjogren-Larsson_syndrome;ALL_PMIDS=10577908;ORIGIN=germline;XREFS=Genetic_Alliance:Sjogren-Larsson+syndrome/6627|Genetics_Home_Reference:sjogren-larsson-syndrome|MedGen:C0037231|OMIM:270200|Office_of_Rare_Diseases:7654|Orphanet:816|SNOMED_CT:111303009;DATES_ORDERED=2017-06-01 17 19564550 . T G . . START=19564550;STOP=19564550;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=438264;RCV=RCV000504796;SCV=SCV000598618;ALLELE_ID=431888;SYMBOL=ALDH3A2;HGVS_C=NM_000382.2:c.909T>G;HGVS_P=NP_000373.1:p.Gly303_eq_;MOLECULAR_CONSEQUENCE=NM_000382.2:c.909T>G:synonymous_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=Rizzo_Lab..University_of_Nebraska_Medical_Center;SUBMITTERS_ORDERED=Rizzo_Lab..University_of_Nebraska_Medical_Center;ALL_TRAITS=Sjögren-Larsson_syndrome|Ichthyosis|Spasticity|Intellectual_disability|Sjogren-Larsson_syndrome;ALL_PMIDS=10577908;ORIGIN=germline;XREFS=Genetic_Alliance:Sjogren-Larsson+syndrome/6627|Genetics_Home_Reference:sjogren-larsson-syndrome|MedGen:C0037231|OMIM:270200|Office_of_Rare_Diseases:7654|Orphanet:816|SNOMED_CT:111303009;DATES_ORDERED=2017-06-01 17 29577934 . TA T . . START=29577935;STOP=29577935;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217112;RCV=RCV000200907;SCV=SCV000255592;ALLELE_ID=213715;SYMBOL=NF1;HGVS_C=NM_001042492.2:c.4110+1798del;MOLECULAR_CONSEQUENCE=NM_000267.3:c.4110+1798del:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Medical_Genomics_Laboratory..Department_of_Genetics_UAB;SUBMITTERS_ORDERED=Medical_Genomics_Laboratory..Department_of_Genetics_UAB;ALL_TRAITS=Neurofibromatosis..type_1|Neurofibromatosis..type_1;ALL_PMIDS=15604628|17636453|20065170|20301288|20301471|24893135|26189818;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=GeneReviews:NBK1109|Genetic_Alliance:Neurofibromatosis+type+1/5174|Genetic_Testing_Registry_(GTR):GTR000260605|Genetic_Testing_Registry_(GTR):GTR000335545|Genetic_Testing_Registry_(GTR):GTR000500115|Genetic_Testing_Registry_(GTR):GTR000500672|Genetic_Testing_Registry_(GTR):GTR000500881|Genetic_Testing_Registry_(GTR):GTR000500970|Genetic_Testing_Registry_(GTR):GTR000500971|Genetic_Testing_Registry_(GTR):GTR000500972|Genetic_Testing_Registry_(GTR):GTR000501087|Genetic_Testing_Registry_(GTR):GTR000501088|Genetic_Testing_Registry_(GTR):GTR000509686|Genetic_Testing_Registry_(GTR):GTR000510677|Genetic_Testing_Registry_(GTR):GTR000510679|Genetic_Testing_Registry_(GTR):GTR000511186|Genetic_Testing_Registry_(GTR):GTR000511188|Genetic_Testing_Registry_(GTR):GTR000514608|Genetic_Testing_Registry_(GTR):GTR000514913|Genetic_Testing_Registry_(GTR):GTR000514981|Genetic_Testing_Registry_(GTR):GTR000515566|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520393|Genetic_Testing_Registry_(GTR):GTR000520410|Genetic_Testing_Registry_(GTR):GTR000521399|Genetic_Testing_Registry_(GTR):GTR000521505|Genetic_Testing_Registry_(GTR):GTR000521546|Genetic_Testing_Registry_(GTR):GTR000522322|Genetic_Testing_Registry_(GTR):GTR000528459|Genetic_Testing_Registry_(GTR):GTR000528529|Genetic_Testing_Registry_(GTR):GTR000528533|Genetic_Testing_Registry_(GTR):GTR000528913|Genetic_Testing_Registry_(GTR):GTR000528930|Genetic_Testing_Registry_(GTR):GTR000529017|Genetic_Testing_Registry_(GTR):GTR000529068|Genetic_Testing_Registry_(GTR):GTR000551630|Genetic_Testing_Registry_(GTR):GTR000552183|Genetic_Testing_Registry_(GTR):GTR000552305|Genetic_Testing_Registry_(GTR):GTR000556576|MedGen:C0027831|OMIM:162200|OMIM:613113.0001|OMIM:613113.0002|OMIM:613113.0003|OMIM:613113.0004|OMIM:613113.0005|OMIM:613113.0006|OMIM:613113.0007|OMIM:613113.0008|OMIM:613113.0009|OMIM:613113.0012|OMIM:613113.0013|OMIM:613113.0014|OMIM:613113.0015|OMIM:613113.0016|OMIM:613113.0021|OMIM:613113.0022|OMIM:613113.0023|OMIM:613113.0024|OMIM:613113.0025|OMIM:613113.0026|OMIM:613113.0027|OMIM:613113.0029|OMIM:613113.0030|OMIM:613113.0031|OMIM:613113.0032|OMIM:613113.0037|OMIM:613113.0038|OMIM:613113.0040|OMIM:613113.0041|OMIM:613113.0042|OMIM:613113.0043|OMIM:613113.0044|OMIM:613113.0046|Office_of_Rare_Diseases:7866|Orphanet:636|Programa_de_Pós-Graduação_em_Ciências_Genômicas_e_Biotecnologia..Universidade_Católica_de_Brasília:R34|SNOMED_CT:92824003;DATES_ORDERED=0000-00-00 -17 41247892 . T C . . START=41247892;STOP=41247892;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236265;RCV=RCV000225499;SCV=SCV000282252;ALLELE_ID=46245;SYMBOL=BRCA1;HGVS_C=NM_007294.3:c.641A>G;HGVS_P=NP_009225.1:p.Asp214Gly;MOLECULAR_CONSEQUENCE=NM_007294.3:c.641A>G:missense_variant|NR_027676.1:n.777A>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=reviewed_by_expert_panel;LAST_EVALUATED=Jun_29..2017;ALL_SUBMITTERS=Evidence-based_Network_for_the_Interpretation_of_Germline_Mutant_Alleles_(ENIGMA);SUBMITTERS_ORDERED=Evidence-based_Network_for_the_Interpretation_of_Germline_Mutant_Alleles_(ENIGMA);ALL_TRAITS=Breast-ovarian_cancer..familial_1;ALL_PMIDS=1|10|15604628|17392385|17508274|17924331|19305347|20|20065170|20301425|23188549|23788249|23918944|24366376|24366402|24432435|24493721|25356965|25394175|27008870|27854360|3|548|70;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1247|Genetic_Alliance:Breast-ovarian+cancer%2C+familial+1/7865|Genetic_Testing_Registry_(GTR):GTR000017876|Genetic_Testing_Registry_(GTR):GTR000021517|Genetic_Testing_Registry_(GTR):GTR000320777|Genetic_Testing_Registry_(GTR):GTR000325409|Genetic_Testing_Registry_(GTR):GTR000330054|Genetic_Testing_Registry_(GTR):GTR000501196|Genetic_Testing_Registry_(GTR):GTR000501743|Genetic_Testing_Registry_(GTR):GTR000501746|Genetic_Testing_Registry_(GTR):GTR000501817|Genetic_Testing_Registry_(GTR):GTR000505644|Genetic_Testing_Registry_(GTR):GTR000507653|Genetic_Testing_Registry_(GTR):GTR000507764|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507913|Genetic_Testing_Registry_(GTR):GTR000507930|Genetic_Testing_Registry_(GTR):GTR000509001|Genetic_Testing_Registry_(GTR):GTR000509002|Genetic_Testing_Registry_(GTR):GTR000509348|Genetic_Testing_Registry_(GTR):GTR000509349|Genetic_Testing_Registry_(GTR):GTR000509363|Genetic_Testing_Registry_(GTR):GTR000509450|Genetic_Testing_Registry_(GTR):GTR000509451|Genetic_Testing_Registry_(GTR):GTR000509692|Genetic_Testing_Registry_(GTR):GTR000509980|Genetic_Testing_Registry_(GTR):GTR000509982|Genetic_Testing_Registry_(GTR):GTR000509983|Genetic_Testing_Registry_(GTR):GTR000512320|Genetic_Testing_Registry_(GTR):GTR000512644|Genetic_Testing_Registry_(GTR):GTR000512645|Genetic_Testing_Registry_(GTR):GTR000512816|Genetic_Testing_Registry_(GTR):GTR000514601|Genetic_Testing_Registry_(GTR):GTR000519030|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520071|Genetic_Testing_Registry_(GTR):GTR000520072|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520410|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520866|Genetic_Testing_Registry_(GTR):GTR000520867|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520871|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000521908|Genetic_Testing_Registry_(GTR):GTR000522159|Genetic_Testing_Registry_(GTR):GTR000522160|Genetic_Testing_Registry_(GTR):GTR000522161|Genetic_Testing_Registry_(GTR):GTR000522162|Genetic_Testing_Registry_(GTR):GTR000522243|Genetic_Testing_Registry_(GTR):GTR000527942|Genetic_Testing_Registry_(GTR):GTR000528915|Genetic_Testing_Registry_(GTR):GTR000528916|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000531275|Genetic_Testing_Registry_(GTR):GTR000551440|Genetic_Testing_Registry_(GTR):GTR000552245|Genetic_Testing_Registry_(GTR):GTR000552304|Genetics_Home_Reference:ovarian-cancer|MedGen:C2676676|OMIM:113705.0001|OMIM:113705.0002|OMIM:113705.0003|OMIM:113705.0004|OMIM:113705.0005|OMIM:113705.0006|OMIM:113705.0007|OMIM:113705.0008|OMIM:113705.0009|OMIM:113705.0010|OMIM:113705.0012|OMIM:113705.0013|OMIM:113705.0014|OMIM:113705.0015|OMIM:113705.0016|OMIM:113705.0017|OMIM:113705.0018|OMIM:113705.0019|OMIM:113705.0020|OMIM:113705.0021|OMIM:113705.0023|OMIM:113705.0024|OMIM:113705.0025|OMIM:113705.0026|OMIM:113705.0027|OMIM:113705.0028|OMIM:113705.0029|OMIM:113705.0030|OMIM:113705.0031|OMIM:113705.0032|OMIM:113705.0033|OMIM:113705.0034|OMIM:113705.0035|OMIM:113705.0036|OMIM:113705.0037|OMIM:602667.0001|OMIM:604370|Orphanet:145;DATES_ORDERED=2016-04-15 -17 41247941 . T G . . START=41247941;STOP=41247941;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236265;RCV=RCV000225499;SCV=SCV000282252;ALLELE_ID=46242;SYMBOL=BRCA1;HGVS_C=NM_007294.3:c.594-2A>C;MOLECULAR_CONSEQUENCE=NM_007294.3:c.594-2A>C:splice_acceptor_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=reviewed_by_expert_panel;REVIEW_STATUS_ORDERED=reviewed_by_expert_panel;LAST_EVALUATED=Jun_29..2017;ALL_SUBMITTERS=Evidence-based_Network_for_the_Interpretation_of_Germline_Mutant_Alleles_(ENIGMA);SUBMITTERS_ORDERED=Evidence-based_Network_for_the_Interpretation_of_Germline_Mutant_Alleles_(ENIGMA);ALL_TRAITS=Breast-ovarian_cancer..familial_1;ALL_PMIDS=1|10|15604628|17392385|17508274|17924331|19305347|20|20065170|20301425|23188549|23788249|23918944|24366376|24366402|24432435|24493721|25356965|25394175|27008870|27854360|3|548|70;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1247|Genetic_Alliance:Breast-ovarian+cancer%2C+familial+1/7865|Genetic_Testing_Registry_(GTR):GTR000017876|Genetic_Testing_Registry_(GTR):GTR000021517|Genetic_Testing_Registry_(GTR):GTR000320777|Genetic_Testing_Registry_(GTR):GTR000325409|Genetic_Testing_Registry_(GTR):GTR000330054|Genetic_Testing_Registry_(GTR):GTR000501196|Genetic_Testing_Registry_(GTR):GTR000501743|Genetic_Testing_Registry_(GTR):GTR000501746|Genetic_Testing_Registry_(GTR):GTR000501817|Genetic_Testing_Registry_(GTR):GTR000505644|Genetic_Testing_Registry_(GTR):GTR000507653|Genetic_Testing_Registry_(GTR):GTR000507764|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507913|Genetic_Testing_Registry_(GTR):GTR000507930|Genetic_Testing_Registry_(GTR):GTR000509001|Genetic_Testing_Registry_(GTR):GTR000509002|Genetic_Testing_Registry_(GTR):GTR000509348|Genetic_Testing_Registry_(GTR):GTR000509349|Genetic_Testing_Registry_(GTR):GTR000509363|Genetic_Testing_Registry_(GTR):GTR000509450|Genetic_Testing_Registry_(GTR):GTR000509451|Genetic_Testing_Registry_(GTR):GTR000509692|Genetic_Testing_Registry_(GTR):GTR000509980|Genetic_Testing_Registry_(GTR):GTR000509982|Genetic_Testing_Registry_(GTR):GTR000509983|Genetic_Testing_Registry_(GTR):GTR000512320|Genetic_Testing_Registry_(GTR):GTR000512644|Genetic_Testing_Registry_(GTR):GTR000512645|Genetic_Testing_Registry_(GTR):GTR000512816|Genetic_Testing_Registry_(GTR):GTR000514601|Genetic_Testing_Registry_(GTR):GTR000519030|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520071|Genetic_Testing_Registry_(GTR):GTR000520072|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520410|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520866|Genetic_Testing_Registry_(GTR):GTR000520867|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520871|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000521908|Genetic_Testing_Registry_(GTR):GTR000522159|Genetic_Testing_Registry_(GTR):GTR000522160|Genetic_Testing_Registry_(GTR):GTR000522161|Genetic_Testing_Registry_(GTR):GTR000522162|Genetic_Testing_Registry_(GTR):GTR000522243|Genetic_Testing_Registry_(GTR):GTR000527942|Genetic_Testing_Registry_(GTR):GTR000528915|Genetic_Testing_Registry_(GTR):GTR000528916|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000531275|Genetic_Testing_Registry_(GTR):GTR000551440|Genetic_Testing_Registry_(GTR):GTR000552245|Genetic_Testing_Registry_(GTR):GTR000552304|Genetics_Home_Reference:ovarian-cancer|MedGen:C2676676|OMIM:113705.0001|OMIM:113705.0002|OMIM:113705.0003|OMIM:113705.0004|OMIM:113705.0005|OMIM:113705.0006|OMIM:113705.0007|OMIM:113705.0008|OMIM:113705.0009|OMIM:113705.0010|OMIM:113705.0012|OMIM:113705.0013|OMIM:113705.0014|OMIM:113705.0015|OMIM:113705.0016|OMIM:113705.0017|OMIM:113705.0018|OMIM:113705.0019|OMIM:113705.0020|OMIM:113705.0021|OMIM:113705.0023|OMIM:113705.0024|OMIM:113705.0025|OMIM:113705.0026|OMIM:113705.0027|OMIM:113705.0028|OMIM:113705.0029|OMIM:113705.0030|OMIM:113705.0031|OMIM:113705.0032|OMIM:113705.0033|OMIM:113705.0034|OMIM:113705.0035|OMIM:113705.0036|OMIM:113705.0037|OMIM:602667.0001|OMIM:604370|Orphanet:145;DATES_ORDERED=2016-04-15 +17 41247892 . T C . . START=41247892;STOP=41247892;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236265;RCV=RCV000225499;SCV=SCV000282252;ALLELE_ID=46245;SYMBOL=BRCA1;HGVS_C=NM_007294.3:c.641A>G;HGVS_P=NP_009225.1:p.Asp214Gly;MOLECULAR_CONSEQUENCE=NM_007294.3:c.641A>G:missense_variant|NR_027676.1:n.777A>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=reviewed_by_expert_panel;REVIEW_STATUS_ORDERED=reviewed_by_expert_panel;LAST_EVALUATED=Jul_19..2017;ALL_SUBMITTERS=Evidence-based_Network_for_the_Interpretation_of_Germline_Mutant_Alleles_(ENIGMA);SUBMITTERS_ORDERED=Evidence-based_Network_for_the_Interpretation_of_Germline_Mutant_Alleles_(ENIGMA);ALL_TRAITS=Breast-ovarian_cancer..familial_1;ALL_PMIDS=1|10|15604628|17392385|17508274|17924331|19305347|20|20065170|20301425|23188549|23788249|23918944|24366376|24366402|24432435|24493721|25356965|25394175|27008870|27854360|3|548|70;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1247|Genetic_Alliance:Breast-ovarian+cancer%2C+familial+1/7865|Genetic_Testing_Registry_(GTR):GTR000017876|Genetic_Testing_Registry_(GTR):GTR000021517|Genetic_Testing_Registry_(GTR):GTR000320777|Genetic_Testing_Registry_(GTR):GTR000325409|Genetic_Testing_Registry_(GTR):GTR000330054|Genetic_Testing_Registry_(GTR):GTR000501196|Genetic_Testing_Registry_(GTR):GTR000501743|Genetic_Testing_Registry_(GTR):GTR000501746|Genetic_Testing_Registry_(GTR):GTR000501817|Genetic_Testing_Registry_(GTR):GTR000505644|Genetic_Testing_Registry_(GTR):GTR000507653|Genetic_Testing_Registry_(GTR):GTR000507764|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507913|Genetic_Testing_Registry_(GTR):GTR000507930|Genetic_Testing_Registry_(GTR):GTR000509001|Genetic_Testing_Registry_(GTR):GTR000509002|Genetic_Testing_Registry_(GTR):GTR000509348|Genetic_Testing_Registry_(GTR):GTR000509349|Genetic_Testing_Registry_(GTR):GTR000509363|Genetic_Testing_Registry_(GTR):GTR000509450|Genetic_Testing_Registry_(GTR):GTR000509451|Genetic_Testing_Registry_(GTR):GTR000509692|Genetic_Testing_Registry_(GTR):GTR000509980|Genetic_Testing_Registry_(GTR):GTR000509982|Genetic_Testing_Registry_(GTR):GTR000509983|Genetic_Testing_Registry_(GTR):GTR000512320|Genetic_Testing_Registry_(GTR):GTR000512644|Genetic_Testing_Registry_(GTR):GTR000512645|Genetic_Testing_Registry_(GTR):GTR000512816|Genetic_Testing_Registry_(GTR):GTR000514601|Genetic_Testing_Registry_(GTR):GTR000519030|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520071|Genetic_Testing_Registry_(GTR):GTR000520072|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520410|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520866|Genetic_Testing_Registry_(GTR):GTR000520867|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520871|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000521908|Genetic_Testing_Registry_(GTR):GTR000522159|Genetic_Testing_Registry_(GTR):GTR000522160|Genetic_Testing_Registry_(GTR):GTR000522161|Genetic_Testing_Registry_(GTR):GTR000522162|Genetic_Testing_Registry_(GTR):GTR000522243|Genetic_Testing_Registry_(GTR):GTR000527942|Genetic_Testing_Registry_(GTR):GTR000528915|Genetic_Testing_Registry_(GTR):GTR000528916|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000531275|Genetic_Testing_Registry_(GTR):GTR000551440|Genetic_Testing_Registry_(GTR):GTR000552245|Genetic_Testing_Registry_(GTR):GTR000552304|MedGen:C2676676|OMIM:113705.0001|OMIM:113705.0002|OMIM:113705.0003|OMIM:113705.0004|OMIM:113705.0005|OMIM:113705.0006|OMIM:113705.0007|OMIM:113705.0008|OMIM:113705.0009|OMIM:113705.0010|OMIM:113705.0012|OMIM:113705.0013|OMIM:113705.0014|OMIM:113705.0015|OMIM:113705.0016|OMIM:113705.0017|OMIM:113705.0018|OMIM:113705.0019|OMIM:113705.0020|OMIM:113705.0021|OMIM:113705.0023|OMIM:113705.0024|OMIM:113705.0025|OMIM:113705.0026|OMIM:113705.0027|OMIM:113705.0028|OMIM:113705.0029|OMIM:113705.0030|OMIM:113705.0031|OMIM:113705.0032|OMIM:113705.0033|OMIM:113705.0034|OMIM:113705.0035|OMIM:113705.0036|OMIM:113705.0037|OMIM:602667.0001|OMIM:604370|Orphanet:145;DATES_ORDERED=2016-04-15 +17 41247941 . T G . . START=41247941;STOP=41247941;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=236265;RCV=RCV000225499;SCV=SCV000282252;ALLELE_ID=46242;SYMBOL=BRCA1;HGVS_C=NM_007294.3:c.594-2A>C;MOLECULAR_CONSEQUENCE=NM_007294.3:c.594-2A>C:splice_acceptor_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=reviewed_by_expert_panel;LAST_EVALUATED=Jul_19..2017;ALL_SUBMITTERS=Evidence-based_Network_for_the_Interpretation_of_Germline_Mutant_Alleles_(ENIGMA);SUBMITTERS_ORDERED=Evidence-based_Network_for_the_Interpretation_of_Germline_Mutant_Alleles_(ENIGMA);ALL_TRAITS=Breast-ovarian_cancer..familial_1;ALL_PMIDS=1|10|15604628|17392385|17508274|17924331|19305347|20|20065170|20301425|23188549|23788249|23918944|24366376|24366402|24432435|24493721|25356965|25394175|27008870|27854360|3|548|70;DISEASE_MECHANISM=loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1247|Genetic_Alliance:Breast-ovarian+cancer%2C+familial+1/7865|Genetic_Testing_Registry_(GTR):GTR000017876|Genetic_Testing_Registry_(GTR):GTR000021517|Genetic_Testing_Registry_(GTR):GTR000320777|Genetic_Testing_Registry_(GTR):GTR000325409|Genetic_Testing_Registry_(GTR):GTR000330054|Genetic_Testing_Registry_(GTR):GTR000501196|Genetic_Testing_Registry_(GTR):GTR000501743|Genetic_Testing_Registry_(GTR):GTR000501746|Genetic_Testing_Registry_(GTR):GTR000501817|Genetic_Testing_Registry_(GTR):GTR000505644|Genetic_Testing_Registry_(GTR):GTR000507653|Genetic_Testing_Registry_(GTR):GTR000507764|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507913|Genetic_Testing_Registry_(GTR):GTR000507930|Genetic_Testing_Registry_(GTR):GTR000509001|Genetic_Testing_Registry_(GTR):GTR000509002|Genetic_Testing_Registry_(GTR):GTR000509348|Genetic_Testing_Registry_(GTR):GTR000509349|Genetic_Testing_Registry_(GTR):GTR000509363|Genetic_Testing_Registry_(GTR):GTR000509450|Genetic_Testing_Registry_(GTR):GTR000509451|Genetic_Testing_Registry_(GTR):GTR000509692|Genetic_Testing_Registry_(GTR):GTR000509980|Genetic_Testing_Registry_(GTR):GTR000509982|Genetic_Testing_Registry_(GTR):GTR000509983|Genetic_Testing_Registry_(GTR):GTR000512320|Genetic_Testing_Registry_(GTR):GTR000512644|Genetic_Testing_Registry_(GTR):GTR000512645|Genetic_Testing_Registry_(GTR):GTR000512816|Genetic_Testing_Registry_(GTR):GTR000514601|Genetic_Testing_Registry_(GTR):GTR000519030|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520071|Genetic_Testing_Registry_(GTR):GTR000520072|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520410|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520866|Genetic_Testing_Registry_(GTR):GTR000520867|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520871|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000521908|Genetic_Testing_Registry_(GTR):GTR000522159|Genetic_Testing_Registry_(GTR):GTR000522160|Genetic_Testing_Registry_(GTR):GTR000522161|Genetic_Testing_Registry_(GTR):GTR000522162|Genetic_Testing_Registry_(GTR):GTR000522243|Genetic_Testing_Registry_(GTR):GTR000527942|Genetic_Testing_Registry_(GTR):GTR000528915|Genetic_Testing_Registry_(GTR):GTR000528916|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000531275|Genetic_Testing_Registry_(GTR):GTR000551440|Genetic_Testing_Registry_(GTR):GTR000552245|Genetic_Testing_Registry_(GTR):GTR000552304|MedGen:C2676676|OMIM:113705.0001|OMIM:113705.0002|OMIM:113705.0003|OMIM:113705.0004|OMIM:113705.0005|OMIM:113705.0006|OMIM:113705.0007|OMIM:113705.0008|OMIM:113705.0009|OMIM:113705.0010|OMIM:113705.0012|OMIM:113705.0013|OMIM:113705.0014|OMIM:113705.0015|OMIM:113705.0016|OMIM:113705.0017|OMIM:113705.0018|OMIM:113705.0019|OMIM:113705.0020|OMIM:113705.0021|OMIM:113705.0023|OMIM:113705.0024|OMIM:113705.0025|OMIM:113705.0026|OMIM:113705.0027|OMIM:113705.0028|OMIM:113705.0029|OMIM:113705.0030|OMIM:113705.0031|OMIM:113705.0032|OMIM:113705.0033|OMIM:113705.0034|OMIM:113705.0035|OMIM:113705.0036|OMIM:113705.0037|OMIM:602667.0001|OMIM:604370|Orphanet:145;DATES_ORDERED=2016-04-15 +17 41276111 . C T . . START=41276111;STOP=41276111;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=487432;RCV=RCV000576499;SCV=SCV000677891;ALLELE_ID=424868;SYMBOL=BRCA1;HGVS_C=NM_007294.3:c.3G>A;HGVS_P=NP_009225.1:p.Met1Ile;MOLECULAR_CONSEQUENCE=NM_007294.3:c.3G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_05..2017;ALL_SUBMITTERS=Counsyl;SUBMITTERS_ORDERED=Counsyl;ALL_TRAITS=Breast-ovarian_cancer..familial_1;ALL_PMIDS=15604628|16267036|16941470|17392385|17508274|19305347|20065170|20301425|23188549|23788249|23918944|24366376|24366402|24432435|24493721|25356965|25394175|27854360;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=GeneReviews:NBK1247|Genetic_Alliance:Breast-ovarian+cancer%2C+familial+1/7865|Genetic_Testing_Registry_(GTR):GTR000017876|Genetic_Testing_Registry_(GTR):GTR000021517|Genetic_Testing_Registry_(GTR):GTR000320777|Genetic_Testing_Registry_(GTR):GTR000325409|Genetic_Testing_Registry_(GTR):GTR000330054|Genetic_Testing_Registry_(GTR):GTR000501196|Genetic_Testing_Registry_(GTR):GTR000501743|Genetic_Testing_Registry_(GTR):GTR000501746|Genetic_Testing_Registry_(GTR):GTR000501817|Genetic_Testing_Registry_(GTR):GTR000505644|Genetic_Testing_Registry_(GTR):GTR000507653|Genetic_Testing_Registry_(GTR):GTR000507764|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507913|Genetic_Testing_Registry_(GTR):GTR000507930|Genetic_Testing_Registry_(GTR):GTR000509001|Genetic_Testing_Registry_(GTR):GTR000509002|Genetic_Testing_Registry_(GTR):GTR000509348|Genetic_Testing_Registry_(GTR):GTR000509349|Genetic_Testing_Registry_(GTR):GTR000509363|Genetic_Testing_Registry_(GTR):GTR000509450|Genetic_Testing_Registry_(GTR):GTR000509451|Genetic_Testing_Registry_(GTR):GTR000509692|Genetic_Testing_Registry_(GTR):GTR000509980|Genetic_Testing_Registry_(GTR):GTR000509982|Genetic_Testing_Registry_(GTR):GTR000509983|Genetic_Testing_Registry_(GTR):GTR000512320|Genetic_Testing_Registry_(GTR):GTR000512644|Genetic_Testing_Registry_(GTR):GTR000512645|Genetic_Testing_Registry_(GTR):GTR000512816|Genetic_Testing_Registry_(GTR):GTR000514601|Genetic_Testing_Registry_(GTR):GTR000519030|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520071|Genetic_Testing_Registry_(GTR):GTR000520072|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520410|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520866|Genetic_Testing_Registry_(GTR):GTR000520867|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520871|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000521908|Genetic_Testing_Registry_(GTR):GTR000522159|Genetic_Testing_Registry_(GTR):GTR000522160|Genetic_Testing_Registry_(GTR):GTR000522161|Genetic_Testing_Registry_(GTR):GTR000522162|Genetic_Testing_Registry_(GTR):GTR000522243|Genetic_Testing_Registry_(GTR):GTR000527942|Genetic_Testing_Registry_(GTR):GTR000528915|Genetic_Testing_Registry_(GTR):GTR000528916|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000531275|Genetic_Testing_Registry_(GTR):GTR000551440|Genetic_Testing_Registry_(GTR):GTR000552245|Genetic_Testing_Registry_(GTR):GTR000552304|MedGen:C2676676|OMIM:113705.0001|OMIM:113705.0002|OMIM:113705.0003|OMIM:113705.0004|OMIM:113705.0005|OMIM:113705.0006|OMIM:113705.0007|OMIM:113705.0008|OMIM:113705.0009|OMIM:113705.0010|OMIM:113705.0012|OMIM:113705.0013|OMIM:113705.0014|OMIM:113705.0015|OMIM:113705.0016|OMIM:113705.0017|OMIM:113705.0018|OMIM:113705.0019|OMIM:113705.0020|OMIM:113705.0021|OMIM:113705.0023|OMIM:113705.0024|OMIM:113705.0025|OMIM:113705.0026|OMIM:113705.0027|OMIM:113705.0028|OMIM:113705.0029|OMIM:113705.0030|OMIM:113705.0031|OMIM:113705.0032|OMIM:113705.0033|OMIM:113705.0034|OMIM:113705.0035|OMIM:113705.0036|OMIM:113705.0037|OMIM:602667.0001|OMIM:604370|Orphanet:145;DATES_ORDERED=2017-04-05 +17 41276114 . T C . . START=41276114;STOP=41276114;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=487432;RCV=RCV000576499;SCV=SCV000677891;ALLELE_ID=480485;SYMBOL=BRCA1;HGVS_C=NM_007294.3:c.-1A>G;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_05..2017;ALL_SUBMITTERS=Counsyl;SUBMITTERS_ORDERED=Counsyl;ALL_TRAITS=Breast-ovarian_cancer..familial_1;ALL_PMIDS=15604628|16267036|16941470|17392385|17508274|19305347|20065170|20301425|23188549|23788249|23918944|24366376|24366402|24432435|24493721|25356965|25394175|27854360;DISEASE_MECHANISM=loss_of_function;ORIGIN=unknown;XREFS=GeneReviews:NBK1247|Genetic_Alliance:Breast-ovarian+cancer%2C+familial+1/7865|Genetic_Testing_Registry_(GTR):GTR000017876|Genetic_Testing_Registry_(GTR):GTR000021517|Genetic_Testing_Registry_(GTR):GTR000320777|Genetic_Testing_Registry_(GTR):GTR000325409|Genetic_Testing_Registry_(GTR):GTR000330054|Genetic_Testing_Registry_(GTR):GTR000501196|Genetic_Testing_Registry_(GTR):GTR000501743|Genetic_Testing_Registry_(GTR):GTR000501746|Genetic_Testing_Registry_(GTR):GTR000501817|Genetic_Testing_Registry_(GTR):GTR000505644|Genetic_Testing_Registry_(GTR):GTR000507653|Genetic_Testing_Registry_(GTR):GTR000507764|Genetic_Testing_Registry_(GTR):GTR000507864|Genetic_Testing_Registry_(GTR):GTR000507913|Genetic_Testing_Registry_(GTR):GTR000507930|Genetic_Testing_Registry_(GTR):GTR000509001|Genetic_Testing_Registry_(GTR):GTR000509002|Genetic_Testing_Registry_(GTR):GTR000509348|Genetic_Testing_Registry_(GTR):GTR000509349|Genetic_Testing_Registry_(GTR):GTR000509363|Genetic_Testing_Registry_(GTR):GTR000509450|Genetic_Testing_Registry_(GTR):GTR000509451|Genetic_Testing_Registry_(GTR):GTR000509692|Genetic_Testing_Registry_(GTR):GTR000509980|Genetic_Testing_Registry_(GTR):GTR000509982|Genetic_Testing_Registry_(GTR):GTR000509983|Genetic_Testing_Registry_(GTR):GTR000512320|Genetic_Testing_Registry_(GTR):GTR000512644|Genetic_Testing_Registry_(GTR):GTR000512645|Genetic_Testing_Registry_(GTR):GTR000512816|Genetic_Testing_Registry_(GTR):GTR000514601|Genetic_Testing_Registry_(GTR):GTR000519030|Genetic_Testing_Registry_(GTR):GTR000520069|Genetic_Testing_Registry_(GTR):GTR000520071|Genetic_Testing_Registry_(GTR):GTR000520072|Genetic_Testing_Registry_(GTR):GTR000520394|Genetic_Testing_Registry_(GTR):GTR000520410|Genetic_Testing_Registry_(GTR):GTR000520865|Genetic_Testing_Registry_(GTR):GTR000520866|Genetic_Testing_Registry_(GTR):GTR000520867|Genetic_Testing_Registry_(GTR):GTR000520869|Genetic_Testing_Registry_(GTR):GTR000520870|Genetic_Testing_Registry_(GTR):GTR000520871|Genetic_Testing_Registry_(GTR):GTR000520872|Genetic_Testing_Registry_(GTR):GTR000521908|Genetic_Testing_Registry_(GTR):GTR000522159|Genetic_Testing_Registry_(GTR):GTR000522160|Genetic_Testing_Registry_(GTR):GTR000522161|Genetic_Testing_Registry_(GTR):GTR000522162|Genetic_Testing_Registry_(GTR):GTR000522243|Genetic_Testing_Registry_(GTR):GTR000527942|Genetic_Testing_Registry_(GTR):GTR000528915|Genetic_Testing_Registry_(GTR):GTR000528916|Genetic_Testing_Registry_(GTR):GTR000530120|Genetic_Testing_Registry_(GTR):GTR000530202|Genetic_Testing_Registry_(GTR):GTR000531275|Genetic_Testing_Registry_(GTR):GTR000551440|Genetic_Testing_Registry_(GTR):GTR000552245|Genetic_Testing_Registry_(GTR):GTR000552304|MedGen:C2676676|OMIM:113705.0001|OMIM:113705.0002|OMIM:113705.0003|OMIM:113705.0004|OMIM:113705.0005|OMIM:113705.0006|OMIM:113705.0007|OMIM:113705.0008|OMIM:113705.0009|OMIM:113705.0010|OMIM:113705.0012|OMIM:113705.0013|OMIM:113705.0014|OMIM:113705.0015|OMIM:113705.0016|OMIM:113705.0017|OMIM:113705.0018|OMIM:113705.0019|OMIM:113705.0020|OMIM:113705.0021|OMIM:113705.0023|OMIM:113705.0024|OMIM:113705.0025|OMIM:113705.0026|OMIM:113705.0027|OMIM:113705.0028|OMIM:113705.0029|OMIM:113705.0030|OMIM:113705.0031|OMIM:113705.0032|OMIM:113705.0033|OMIM:113705.0034|OMIM:113705.0035|OMIM:113705.0036|OMIM:113705.0037|OMIM:602667.0001|OMIM:604370|Orphanet:145;DATES_ORDERED=2017-04-05 17 42988737 . C T . . START=42988737;STOP=42988737;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=190352;RCV=RCV000192152;SCV=SCV000223016;ALLELE_ID=77412;SYMBOL=GFAP;HGVS_C=NM_002055.4:c.994G>A;HGVS_P=NP_002046.1:p.Glu332Lys;MOLECULAR_CONSEQUENCE=NM_002055.4:c.994G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Alexander's_disease|Alexander's_disease;ALL_PMIDS=18004641|20301351|21533827;ORIGIN=germline;XREFS=GeneReviews:NBK1172|Genetic_Alliance:Alexander+Disease/302|MedGen:C0270726|OMIM:203450|Orphanet:58|SNOMED_CT:81854007;DATES_ORDERED=2015-01-08 -17 42988743 . G C . . START=42988743;STOP=42988743;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=190352;RCV=RCV000192152;SCV=SCV000223016;ALLELE_ID=77410;SYMBOL=GFAP;HGVS_C=NM_002055.4:c.988C>G;HGVS_P=NP_002046.1:p.Arg330Gly;MOLECULAR_CONSEQUENCE=NM_002055.4:c.988C>G:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Alexander's_disease|Alexander's_disease;ALL_PMIDS=18004641|20301351|21533827;ORIGIN=germline;XREFS=GeneReviews:NBK1172|Genetic_Alliance:Alexander+Disease/302|MedGen:C0270726|OMIM:203450|Orphanet:58|SNOMED_CT:81854007;DATES_ORDERED=2015-01-08 -17 42990750 . C G . . START=42990750;STOP=42990750;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=190336;RCV=RCV000192110;SCV=SCV000222969;ALLELE_ID=77391;SYMBOL=GFAP;HGVS_C=NM_002055.4:c.667G>C;HGVS_P=NP_002046.1:p.Glu223Gln;MOLECULAR_CONSEQUENCE=NM_002055.4:c.667G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Alexander's_disease|Alexander's_disease;ALL_PMIDS=14707518|15060693|19444543|20301351|21533827;ORIGIN=germline;XREFS=GeneReviews:NBK1172|Genetic_Alliance:Alexander+Disease/302|MedGen:C0270726|OMIM:203450|Orphanet:58|SNOMED_CT:81854007;DATES_ORDERED=2015-01-08 +17 42988743 . G C . . START=42988743;STOP=42988743;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=190352;RCV=RCV000192152;SCV=SCV000223016;ALLELE_ID=77410;SYMBOL=GFAP;HGVS_C=NM_002055.4:c.988C>G;HGVS_P=NP_002046.1:p.Arg330Gly;MOLECULAR_CONSEQUENCE=NM_002055.4:c.988C>G:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Alexander's_disease|Alexander's_disease;ALL_PMIDS=18004641|20301351|21533827;ORIGIN=germline;XREFS=GeneReviews:NBK1172|Genetic_Alliance:Alexander+Disease/302|MedGen:C0270726|OMIM:203450|Orphanet:58|SNOMED_CT:81854007;DATES_ORDERED=2015-01-08 +17 42990750 . C G . . START=42990750;STOP=42990750;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=190336;RCV=RCV000192110;SCV=SCV000222969;ALLELE_ID=77391;SYMBOL=GFAP;HGVS_C=NM_002055.4:c.667G>C;HGVS_P=NP_002046.1:p.Glu223Gln;MOLECULAR_CONSEQUENCE=NM_002055.4:c.667G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_08..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Alexander's_disease|Alexander's_disease;ALL_PMIDS=14707518|15060693|19444543|20301351|21533827;ORIGIN=germline;XREFS=GeneReviews:NBK1172|Genetic_Alliance:Alexander+Disease/302|MedGen:C0270726|OMIM:203450|Orphanet:58|SNOMED_CT:81854007;DATES_ORDERED=2015-01-08 17 42992619 . C T . . START=42992619;STOP=42992619;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=190336;RCV=RCV000192110;SCV=SCV000222969;ALLELE_ID=31209;SYMBOL=GFAP;HGVS_C=NM_002055.4:c.236G>A;HGVS_P=NP_002046.1:p.Arg79His;MOLECULAR_CONSEQUENCE=NM_002055.4:c.236G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_08..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Alexander's_disease|Alexander's_disease;ALL_PMIDS=14707518|15060693|19444543|20301351|21533827;ORIGIN=germline;XREFS=GeneReviews:NBK1172|Genetic_Alliance:Alexander+Disease/302|MedGen:C0270726|OMIM:203450|Orphanet:58|SNOMED_CT:81854007;DATES_ORDERED=2015-01-08 17 62019163 . C T . . START=62019163;STOP=62019163;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=21158;RCV=RCV000020275;SCV=SCV000040630;ALLELE_ID=34011;SYMBOL=SCN4A;HGVS_C=NM_000334.4:c.4479G>A;HGVS_P=NP_000325.4:p.Met1493Ile;MOLECULAR_CONSEQUENCE=NM_000334.4:c.4479G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_28..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Hyperkalemic_Periodic_Paralysis_Type_1;ALL_PMIDS=10930446|20298421|20301669;ORIGIN=germline;XREFS=GeneReviews:NBK1496|GeneTests:2133|Genetic_Alliance:Hyperkalemic+Periodic+Paralysis+Type+1/8591|MedGen:CN074266|OMIM:170500|Orphanet:682;DATES_ORDERED=2016-01-28 17 62019174 . A G . . START=62019174;STOP=62019174;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=21158;RCV=RCV000020275;SCV=SCV000040630;ALLELE_ID=34010;SYMBOL=SCN4A;HGVS_C=NM_000334.4:c.4468T>C;HGVS_P=NP_000325.4:p.Phe1490Leu;MOLECULAR_CONSEQUENCE=NM_000334.4:c.4468T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_28..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Hyperkalemic_Periodic_Paralysis_Type_1;ALL_PMIDS=10930446|20298421|20301669;ORIGIN=germline;XREFS=GeneReviews:NBK1496|GeneTests:2133|Genetic_Alliance:Hyperkalemic+Periodic+Paralysis+Type+1/8591|MedGen:CN074266|OMIM:170500|Orphanet:682;DATES_ORDERED=2016-01-28 17 73513145 . T C . . START=73513145;STOP=73513145;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=2121;RCV=RCV000002203;SCV=SCV000022361;ALLELE_ID=38422;SYMBOL=TSEN54;HGVS_C=NM_207346.2:c.277T>C;HGVS_P=NP_997229.2:p.Ser93Pro;MOLECULAR_CONSEQUENCE=NM_207346.2:c.277T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_08..2009;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Pontocerebellar_hypoplasia_type_4|PONTOCEREBELLAR_HYPOPLASIA..TYPE_4;ALL_PMIDS=18711368|20301773;ORIGIN=germline;XREFS=GeneReviews:NBK9673|Genetic_Alliance:Pontocerebellar+hypoplasia+type+4/5866|MedGen:C1856974|OMIM:225753|Office_of_Rare_Diseases:343|Orphanet:166063;DATES_ORDERED=2008-09-01 -17 73518081 . G T . . START=73518081;STOP=73518081;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=2121;RCV=RCV000002203;SCV=SCV000022361;ALLELE_ID=17159;SYMBOL=TSEN54;HGVS_C=NM_207346.2:c.919G>T;HGVS_P=NP_997229.2:p.Ala307Ser;MOLECULAR_CONSEQUENCE=NM_207346.2:c.919G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_18..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Pontocerebellar_hypoplasia_type_4|PONTOCEREBELLAR_HYPOPLASIA..TYPE_4;ALL_PMIDS=18711368|20301773;ORIGIN=germline;XREFS=GeneReviews:NBK9673|Genetic_Alliance:Pontocerebellar+hypoplasia+type+4/5866|MedGen:C1856974|OMIM:225753|Office_of_Rare_Diseases:343|Orphanet:166063;DATES_ORDERED=2008-09-01 +17 73518081 . G T . . START=73518081;STOP=73518081;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=2121;RCV=RCV000002203;SCV=SCV000022361;ALLELE_ID=17159;SYMBOL=TSEN54;HGVS_C=NM_207346.2:c.919G>T;HGVS_P=NP_997229.2:p.Ala307Ser;MOLECULAR_CONSEQUENCE=NM_207346.2:c.919G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Pontocerebellar_hypoplasia_type_4|PONTOCEREBELLAR_HYPOPLASIA..TYPE_4;ALL_PMIDS=18711368|20301773;ORIGIN=germline;XREFS=GeneReviews:NBK9673|Genetic_Alliance:Pontocerebellar+hypoplasia+type+4/5866|MedGen:C1856974|OMIM:225753|Office_of_Rare_Diseases:343|Orphanet:166063;DATES_ORDERED=2008-09-01 +17 79684843 . C T . . START=79684843;STOP=79684843;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=446176;RCV=RCV000516170;SCV=SCV000611120;ALLELE_ID=439524;SYMBOL=SLC25A10;HGVS_C=NM_001270888.1:c.684C>T;HGVS_P=NP_001257817.1:p.Pro228_eq_;MOLECULAR_CONSEQUENCE=NM_001270888.1:c.684C>T:synonymous_variant|NM_001270953.1:c.574C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=Computational_Biology_Unit..University_of_Bari;SUBMITTERS_ORDERED=Computational_Biology_Unit..University_of_Bari;ALL_TRAITS=Mitochondrial_complex_I_deficiency|Epileptic_encephalopathy|Decreased_activity_of_mitochondrial_complex_I|Infantile_muscular_hypotonia;ALL_PMIDS=29211846;ORIGIN=not_applicable|paternal;XREFS=Genetic_Alliance:Mitochondrial+complex+I+deficiency/4823|HP:HP:0008947|HP:HP:0011923|HP:HP:0200134|MedGen:C1838979|OMIM:252010|Office_of_Rare_Diseases:3908|Orphanet:2609;DATES_ORDERED=0000-00-00 +17 79686969 . G A . . START=79686969;STOP=79686969;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=446176;RCV=RCV000516170;SCV=SCV000611120;ALLELE_ID=439525;SYMBOL=SLC25A10;HGVS_C=NM_001270888.1:c.790-37G>A;MOLECULAR_CONSEQUENCE=NM_001270888.1:c.790-37G>A:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=Computational_Biology_Unit..University_of_Bari;SUBMITTERS_ORDERED=Computational_Biology_Unit..University_of_Bari;ALL_TRAITS=Mitochondrial_complex_I_deficiency|Epileptic_encephalopathy|Decreased_activity_of_mitochondrial_complex_I|Infantile_muscular_hypotonia;ALL_PMIDS=29211846;ORIGIN=not_applicable|paternal;XREFS=Genetic_Alliance:Mitochondrial+complex+I+deficiency/4823|HP:HP:0008947|HP:HP:0011923|HP:HP:0200134|MedGen:C1838979|OMIM:252010|Office_of_Rare_Diseases:3908|Orphanet:2609;DATES_ORDERED=0000-00-00 18 3215156 . CAC GAG . . START=3215156;STOP=3215158;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=229030;RCV=RCV000221703;SCV=SCV000272178;ALLELE_ID=230906;SYMBOL=MYOM1;HGVS_C=NM_003803.3:c.64_66delGTGinsCTC;HGVS_P=NP_003794.3:p.Val22Leu;MOLECULAR_CONSEQUENCE=NM_003803.3:c.64_66delGTGinsCTC:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_08..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-08 -18 3215157 . A C . . START=3215157;STOP=3215157;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=229030;RCV=RCV000221703;SCV=SCV000272178;ALLELE_ID=230904;SYMBOL=MYOM1;HGVS_C=NM_003803.3:c.65T>G;HGVS_P=NP_003794.3:p.Val22Gly;MOLECULAR_CONSEQUENCE=NM_003803.3:c.65T>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_08..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-08 +18 3215157 . A C . . START=3215157;STOP=3215157;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=229030;RCV=RCV000221703;SCV=SCV000272178;ALLELE_ID=230904;SYMBOL=MYOM1;HGVS_C=NM_003803.3:c.65T>G;HGVS_P=NP_003794.3:p.Val22Gly;MOLECULAR_CONSEQUENCE=NM_003803.3:c.65T>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_26..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-08 18 43445579 . C G . . START=43445579;STOP=43445579;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267449;RCV=RCV000496979;SCV=SCV000328418;ALLELE_ID=262702;SYMBOL=EPG5;HGVS_C=NM_020964.2:c.6766+1G>C;MOLECULAR_CONSEQUENCE=NM_020964.2:c.6766+1G>C:splice_donor_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;SUBMITTERS_ORDERED=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;ALL_TRAITS=Absent_corpus_callosum_cataract_immunodeficiency|Vici_syndrome;ALL_PMIDS=21965116|28615637|3344762;ORIGIN=germline;XREFS=Genetic_Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81|MedGen:C1855772|OMIM:242840|Office_of_Rare_Diseases:448|Orphanet:1493;DATES_ORDERED=2016-08-11 18 43459054 . CA C . . START=43459055;STOP=43459055;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267444;RCV=RCV000496982;SCV=SCV000328413;ALLELE_ID=262703;SYMBOL=EPG5;HGVS_C=NM_020964.2:c.5792delT;HGVS_P=NP_066015.2:p.Leu1931Trpfs;MOLECULAR_CONSEQUENCE=NM_020964.2:c.5792delT:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;SUBMITTERS_ORDERED=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;ALL_TRAITS=Absent_corpus_callosum_cataract_immunodeficiency|Vici_syndrome;ALL_PMIDS=21965116|28615637|3344762;ORIGIN=germline;XREFS=Genetic_Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81|MedGen:C1855772|OMIM:242840|Office_of_Rare_Diseases:448|Orphanet:1493;DATES_ORDERED=2016-08-11 18 43488022 . C T . . START=43488022;STOP=43488022;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=267445;RCV=RCV000496976;SCV=SCV000328414;ALLELE_ID=262704;SYMBOL=EPG5;HGVS_C=NM_020964.2:c.4230G>A;HGVS_P=NP_066015.2:p.Trp1410Ter;MOLECULAR_CONSEQUENCE=NM_020964.2:c.4230G>A:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;SUBMITTERS_ORDERED=Department_of_Pediatrics_and_Neonatology..Nagoya_City_University_Graduate_School_of_Medical_Sciences;ALL_TRAITS=Absent_corpus_callosum_cataract_immunodeficiency|Vici_syndrome;ALL_PMIDS=21965116|28615637|3344762;ORIGIN=germline;XREFS=Genetic_Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81|MedGen:C1855772|OMIM:242840|Office_of_Rare_Diseases:448|Orphanet:1493;DATES_ORDERED=2016-08-11 @@ -534,63 +579,85 @@ 19 7163103 . C A . . START=7163103;STOP=7163103;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=377381;RCV=RCV000496605;SCV=SCV000503034;ALLELE_ID=364263;SYMBOL=INSR;HGVS_C=NM_000208.3:c.1969G>T;HGVS_P=NP_000199.2:p.Val657Phe;MOLECULAR_CONSEQUENCE=NM_000208.3:c.1969G>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_02..2014;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;SUBMITTERS_ORDERED=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Leprechaunism_syndrome;ALL_PMIDS=28765322;ORIGIN=germline;XREFS=Genetic_Alliance:Leprechaunism+syndrome/8731|Genetics_Home_Reference:donohue-syndrome|MedGen:C0265344|OMIM:246200|Orphanet:508|SNOMED_CT:111307005;DATES_ORDERED=2014-06-02 19 7170566 . T C . . START=7170566;STOP=7170566;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=377384;RCV=RCV000496626;SCV=SCV000503037;ALLELE_ID=364264;SYMBOL=INSR;HGVS_C=NM_000208.3:c.1465A>G;HGVS_P=NP_000199.2:p.Asn489Asp;MOLECULAR_CONSEQUENCE=NM_000208.3:c.1465A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_02..2014;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;SUBMITTERS_ORDERED=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans;ALL_PMIDS=28765322;ORIGIN=germline;XREFS=Genetic_Alliance:Insulin-resistant+diabetes+mellitus+AND+acanthosis+nigricans/8675|Genetics_Home_Reference:type-a-insulin-resistance-syndrome|MedGen:C0271690|OMIM:610549|Orphanet:2297|SNOMED_CT:9859006;DATES_ORDERED=2014-06-02 19 7184535 . G A . . START=7184535;STOP=7184535;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=377383;RCV=RCV000496343;SCV=SCV000503036;ALLELE_ID=364265;SYMBOL=INSR;HGVS_C=NM_000208.3:c.766C>T;HGVS_P=NP_000199.2:p.Arg256Cys;MOLECULAR_CONSEQUENCE=NM_000208.3:c.766C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_02..2014;ALL_SUBMITTERS=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;SUBMITTERS_ORDERED=Medical_Research_Institute..Tokyo_Medical_and_Dental_University;ALL_TRAITS=Pineal_hyperplasia_AND_diabetes_mellitus_syndrome;ALL_PMIDS=28765322;ORIGIN=germline;XREFS=Genetic_Alliance:Pineal+hyperplasia+AND+diabetes+mellitus+syndrome/9115|Genetics_Home_Reference:rabson-mendenhall-syndrome|MedGen:C0271695|OMIM:262190|Orphanet:769|SNOMED_CT:33559001;DATES_ORDERED=2014-06-02 -19 10491186 . C T . . START=10491186;STOP=10491186;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440728;RCV=RCV000508928;SCV=SCV000606721;ALLELE_ID=434354;SYMBOL=TYK2;HGVS_C=NM_003331.4:c.-316G>A;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Division_of_Host_Defense..Kyushu_University;SUBMITTERS_ORDERED=Division_of_Host_Defense..Kyushu_University;ALL_TRAITS=Virus-induced_diabetes|Virus-induced_diabetes;ALL_PMIDS=26288847;ORIGIN=inherited;DATES_ORDERED=0000-00-00 +19 10491186 . C T . . START=10491186;STOP=10491186;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440728;RCV=RCV000508928;SCV=SCV000606721;ALLELE_ID=434354;SYMBOL=TYK2;HGVS_C=NM_003331.4:c.-316G>A;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Division_of_Host_Defense..Kyushu_University;SUBMITTERS_ORDERED=Division_of_Host_Defense..Kyushu_University;ALL_TRAITS=Virus-induced_diabetes|Virus-induced_diabetes;ALL_PMIDS=26288847;ORIGIN=inherited;DATES_ORDERED=0000-00-00 19 10491187 . C T . . START=10491187;STOP=10491187;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440728;RCV=RCV000508928;SCV=SCV000606721;ALLELE_ID=434355;SYMBOL=TYK2;HGVS_C=NM_003331.4:c.-317G>A;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Division_of_Host_Defense..Kyushu_University;SUBMITTERS_ORDERED=Division_of_Host_Defense..Kyushu_University;ALL_TRAITS=Virus-induced_diabetes|Virus-induced_diabetes;ALL_PMIDS=26288847;ORIGIN=inherited;DATES_ORDERED=0000-00-00 19 10491248 . T C . . START=10491248;STOP=10491248;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440728;RCV=RCV000508928;SCV=SCV000606721;ALLELE_ID=342540;SYMBOL=TYK2;HGVS_C=NM_003331.4:c.-378A>G;MOLECULAR_CONSEQUENCE=NM_003331.4:c.-378A>G:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Division_of_Host_Defense..Kyushu_University;SUBMITTERS_ORDERED=Division_of_Host_Defense..Kyushu_University;ALL_TRAITS=Virus-induced_diabetes|Virus-induced_diabetes;ALL_PMIDS=26288847;ORIGIN=inherited;DATES_ORDERED=0000-00-00 -19 10491352 . T G . . START=10491352;STOP=10491352;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440728;RCV=RCV000508928;SCV=SCV000606721;ALLELE_ID=434356;SYMBOL=TYK2;HGVS_C=NM_003331.4:c.-482A>C;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Division_of_Host_Defense..Kyushu_University;SUBMITTERS_ORDERED=Division_of_Host_Defense..Kyushu_University;ALL_TRAITS=Virus-induced_diabetes|Virus-induced_diabetes;ALL_PMIDS=26288847;ORIGIN=inherited;DATES_ORDERED=0000-00-00 -19 10492177 . A T . . START=10492177;STOP=10492177;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440728;RCV=RCV000508928;SCV=SCV000606721;ALLELE_ID=434357;SYMBOL=TYK2;HGVS_C=NM_003331.4:c.-1307T>A;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Division_of_Host_Defense..Kyushu_University;SUBMITTERS_ORDERED=Division_of_Host_Defense..Kyushu_University;ALL_TRAITS=Virus-induced_diabetes|Virus-induced_diabetes;ALL_PMIDS=26288847;ORIGIN=inherited;DATES_ORDERED=0000-00-00 +19 10491352 . T G . . START=10491352;STOP=10491352;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440728;RCV=RCV000508928;SCV=SCV000606721;ALLELE_ID=434356;SYMBOL=TYK2;HGVS_C=NM_003331.4:c.-482A>C;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Division_of_Host_Defense..Kyushu_University;SUBMITTERS_ORDERED=Division_of_Host_Defense..Kyushu_University;ALL_TRAITS=Virus-induced_diabetes|Virus-induced_diabetes;ALL_PMIDS=26288847;ORIGIN=inherited;DATES_ORDERED=0000-00-00 +19 10492177 . A T . . START=10492177;STOP=10492177;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440728;RCV=RCV000508928;SCV=SCV000606721;ALLELE_ID=434357;SYMBOL=TYK2;HGVS_C=NM_003331.4:c.-1307T>A;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Division_of_Host_Defense..Kyushu_University;SUBMITTERS_ORDERED=Division_of_Host_Defense..Kyushu_University;ALL_TRAITS=Virus-induced_diabetes|Virus-induced_diabetes;ALL_PMIDS=26288847;ORIGIN=inherited;DATES_ORDERED=0000-00-00 19 10492178 . C T . . START=10492178;STOP=10492178;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=440728;RCV=RCV000508928;SCV=SCV000606721;ALLELE_ID=434358;SYMBOL=TYK2;HGVS_C=NM_003331.4:c.-1308G>A;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Division_of_Host_Defense..Kyushu_University;SUBMITTERS_ORDERED=Division_of_Host_Defense..Kyushu_University;ALL_TRAITS=Virus-induced_diabetes|Virus-induced_diabetes;ALL_PMIDS=26288847;ORIGIN=inherited;DATES_ORDERED=0000-00-00 19 11216228 . T TGTGATG . . START=11216231;STOP=11216236;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=250923;RCV=RCV000238362;SCV=SCV000294356;ALLELE_ID=245688;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.649_654dupGATGGT;HGVS_P=NP_000518.1:p.Gly218_Gly219insAspGly;MOLECULAR_CONSEQUENCE=NM_000527.4:c.649_654dupGATGGT:inframe_variant|NM_001195800.1:c.314-1837_314-1832dup:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_25..2016;ALL_SUBMITTERS=LDLR-LOVD..British_Heart_Foundation;SUBMITTERS_ORDERED=LDLR-LOVD..British_Heart_Foundation;ALL_TRAITS=Familial_hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|27854360|7649546;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2016-03-25 -19 11218079 . G A . . START=11218079;STOP=11218079;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=430765;RCV=RCV000495914;SCV=SCV000583747;ALLELE_ID=181238;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.829G>A;HGVS_P=NP_000518.1:p.Glu277Lys;MOLECULAR_CONSEQUENCE=NM_000527.4:c.829G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360|28145427;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2017-03-30 +19 11218079 . G A . . START=11218079;STOP=11218079;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=430765;RCV=RCV000495914;SCV=SCV000583747;ALLELE_ID=181238;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.829G>A;HGVS_P=NP_000518.1:p.Glu277Lys;MOLECULAR_CONSEQUENCE=NM_000527.4:c.829G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_24..2017;ALL_SUBMITTERS=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360|28145427;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2017-03-30 19 11218182 . A G . . START=11218182;STOP=11218182;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=430769;RCV=RCV000495938;SCV=SCV000583762;ALLELE_ID=245864;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.932A>G;HGVS_P=NP_000518.1:p.Lys311Arg;MOLECULAR_CONSEQUENCE=NM_000527.4:c.932A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2017-03-30 19 11218189 . C G . . START=11218189;STOP=11218189;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=430769;RCV=RCV000495938;SCV=SCV000583762;ALLELE_ID=245873;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.939C>G;HGVS_P=NP_000518.1:p.Cys313Trp;MOLECULAR_CONSEQUENCE=NM_000527.4:c.939C>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2017-03-30 19 11224035 . T C . . START=11224035;STOP=11224035;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=430765;RCV=RCV000495914;SCV=SCV000583747;ALLELE_ID=246074;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.1268T>C;HGVS_P=NP_000518.1:p.Ile423Thr;MOLECULAR_CONSEQUENCE=NM_000527.4:c.1268T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360|28145427;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2017-03-30 -19 11226873 . A C . . START=11226873;STOP=11226873;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=3737;RCV=RCV000003935;SCV=SCV000024100|SCV000583862;ALLELE_ID=18776;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.1690A>C;HGVS_P=NP_000518.1:p.Asn564His;MOLECULAR_CONSEQUENCE=NM_000527.4:c.1690A>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=other|pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=OMIM|U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=OMIM|U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|FH_AARHUS|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=1439789|15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360|8528204|9143924;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2012-05-04|2017-03-30 -19 11230901 . A C . . START=11230901;STOP=11230901;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=430800;RCV=RCV000495898;SCV=SCV000583944;ALLELE_ID=424334;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.1979A>C;HGVS_P=NP_000518.1:p.Gln660Pro;MOLECULAR_CONSEQUENCE=NM_000527.4:c.1979A>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2017-03-30 +19 11226873 . A C . . START=11226873;STOP=11226873;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=3737;RCV=RCV000003935;SCV=SCV000024100|SCV000583862;ALLELE_ID=18776;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.1690A>C;HGVS_P=NP_000518.1:p.Asn564His;MOLECULAR_CONSEQUENCE=NM_000527.4:c.1690A>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=OMIM|U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=OMIM|U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|FH_AARHUS|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=1439789|15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360|8528204|9143924;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=1997-01-01|2017-03-30 +19 11230901 . A C . . START=11230901;STOP=11230901;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=430800;RCV=RCV000495898;SCV=SCV000583944;ALLELE_ID=424334;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.1979A>C;HGVS_P=NP_000518.1:p.Gln660Pro;MOLECULAR_CONSEQUENCE=NM_000527.4:c.1979A>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2017-03-30 19 11238731 . G A . . START=11238731;STOP=11238731;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=430800;RCV=RCV000495898;SCV=SCV000583944;ALLELE_ID=424344;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.2359G>A;HGVS_P=NP_000518.1:p.Val787Met;MOLECULAR_CONSEQUENCE=NM_000527.4:c.2359G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2017-03-30 -19 11240191 . CTCCTCGTCT C . . START=11240196;STOP=11240204;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=3737;RCV=RCV000003935;SCV=SCV000024100|SCV000583862;ALLELE_ID=71434;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.2397_2405delCGTCTTCCT;HGVS_P=NP_000518.1:p.Val800_Leu802del;MOLECULAR_CONSEQUENCE=NM_000527.4:c.2397_2405delCGTCTTCCT:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=other|pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=OMIM|U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=OMIM|U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|FH_AARHUS|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=1439789|15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360|8528204|9143924;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=2012-05-04|2017-03-30 -19 18705148 . A C . . START=18705148;STOP=18705148;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=5706;RCV=RCV000006060;SCV=SCV000026242;ALLELE_ID=34280;SYMBOL=CRLF1;HGVS_C=NM_004750.4:c.1121T>G;HGVS_P=NP_004741.1:p.Leu374Arg;MOLECULAR_CONSEQUENCE=NM_004750.4:c.1121T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_03..2011;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cold-induced_sweating_syndrome_1|COLD-INDUCED_SWEATING_SYNDROME_1;ALL_PMIDS=12509788|21370513;ORIGIN=germline;XREFS=GeneReviews:NBK52917|Genetic_Alliance:Cold-induced+sweating+syndrome+1/8000|Genetic_Alliance:Crisponi+Syndrome/2012|MedGen:C1848947|OMIM:272430|Orphanet:157820;DATES_ORDERED=2003-02-01 +19 11240191 . CTCCTCGTCT C . . START=11240196;STOP=11240204;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=3737;RCV=RCV000003935;SCV=SCV000024100|SCV000583862;ALLELE_ID=71434;SYMBOL=LDLR;HGVS_C=NM_000527.4:c.2397_2405delCGTCTTCCT;HGVS_P=NP_000518.1:p.Val800_Leu802del;MOLECULAR_CONSEQUENCE=NM_000527.4:c.2397_2405delCGTCTTCCT:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=OMIM|U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;SUBMITTERS_ORDERED=OMIM|U4M_-_Lille_University_&_CHRU_Lille..Université_Lille_2_-_CHRU_de_Lille;ALL_TRAITS=Familial_hypercholesterolemia|FH_AARHUS|Hyperbetalipoproteinemia|Hypercholesterolemia|Familial_Hypercholesterolemia;ALL_PMIDS=1439789|15177124|21600525|22364837|23725921|23788249|24404629|24418289|24636176|25053660|25356965|25404096|25741868|27854360|8528204|9143924;ORIGIN=germline;XREFS=GeneReviews:NBK174884|Genetic_Alliance:Familial+Hypercholesterolemia/2746|HP:HP:0003124|HP:HP:0003141|MedGen:C0020445|OMIM:143890|OMIM:144400|OMIM:600946.0028|Orphanet:391665|SNOMED_CT:397915002|SNOMED_CT:398036000;DATES_ORDERED=1997-01-01|2017-03-30 +19 18705148 . A C . . START=18705148;STOP=18705148;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=5706;RCV=RCV000006060;SCV=SCV000026242;ALLELE_ID=34280;SYMBOL=CRLF1;HGVS_C=NM_004750.4:c.1121T>G;HGVS_P=NP_004741.1:p.Leu374Arg;MOLECULAR_CONSEQUENCE=NM_004750.4:c.1121T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_03..2011;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cold-induced_sweating_syndrome_1|COLD-INDUCED_SWEATING_SYNDROME_1;ALL_PMIDS=12509788|21370513;ORIGIN=germline;XREFS=GeneReviews:NBK52917|Genetic_Alliance:Cold-induced+sweating+syndrome+1/8000|Genetic_Alliance:Crisponi+Syndrome/2012|MedGen:C1848947|OMIM:272430|Orphanet:157820;DATES_ORDERED=2003-02-01 19 18710530 . C T . . START=18710530;STOP=18710530;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=5706;RCV=RCV000006060;SCV=SCV000026242;ALLELE_ID=20745;SYMBOL=CRLF1;HGVS_C=NM_004750.4:c.242G>A;HGVS_P=NP_004741.1:p.Arg81His;MOLECULAR_CONSEQUENCE=NM_004750.4:c.242G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_03..2011;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Cold-induced_sweating_syndrome_1|COLD-INDUCED_SWEATING_SYNDROME_1;ALL_PMIDS=12509788|21370513;ORIGIN=germline;XREFS=GeneReviews:NBK52917|Genetic_Alliance:Cold-induced+sweating+syndrome+1/8000|Genetic_Alliance:Crisponi+Syndrome/2012|MedGen:C1848947|OMIM:272430|Orphanet:157820;DATES_ORDERED=2003-02-01 19 36333331 . T A . . START=36333331;STOP=36333331;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=6872;RCV=RCV000007275;SCV=SCV000027471;ALLELE_ID=38439;SYMBOL=NPHS1;HGVS_C=NM_004646.3:c.2456A>T;HGVS_P=NP_004637.1:p.Asp819Val;MOLECULAR_CONSEQUENCE=NM_004646.3:c.2456A>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2000;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Finnish_congenital_nephrotic_syndrome|NEPHROTIC_SYNDROME..TYPE_1;ALL_PMIDS=10652016;ORIGIN=germline;XREFS=Genetic_Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861|MedGen:C0403399|OMIM:256300|OMIM:602716.0001|OMIM:602716.0002|OMIM:602716.0003|OMIM:602716.0004|OMIM:602716.0005|OMIM:602716.0006|OMIM:602716.0007|OMIM:602716.0008|OMIM:602716.0009|OMIM:602716.0010|Office_of_Rare_Diseases:1500|Orphanet:839|SNOMED_CT:197601003;DATES_ORDERED=2000-02-01 19 36339044 . C T . . START=36339044;STOP=36339044;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=6872;RCV=RCV000007275;SCV=SCV000027471;ALLELE_ID=21911;SYMBOL=NPHS1;HGVS_C=NM_004646.3:c.1339G>A;HGVS_P=NP_004637.1:p.Glu447Lys;MOLECULAR_CONSEQUENCE=NM_004646.3:c.1339G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_18..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Finnish_congenital_nephrotic_syndrome|NEPHROTIC_SYNDROME..TYPE_1;ALL_PMIDS=10652016;ORIGIN=germline;XREFS=Genetic_Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861|MedGen:C0403399|OMIM:256300|OMIM:602716.0001|OMIM:602716.0002|OMIM:602716.0003|OMIM:602716.0004|OMIM:602716.0005|OMIM:602716.0006|OMIM:602716.0007|OMIM:602716.0008|OMIM:602716.0009|OMIM:602716.0010|Office_of_Rare_Diseases:1500|Orphanet:839|SNOMED_CT:197601003;DATES_ORDERED=2000-02-01 -19 38979992 . AAG A . . START=38979995;STOP=38979996;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=29876;RCV=RCV000022757;SCV=SCV000044046;ALLELE_ID=38831;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.5726_5727delAG;HGVS_P=NP_000531.2:p.Glu1909Glyfs;MOLECULAR_CONSEQUENCE=NM_000540.2:c.5726_5727delAG:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_07..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Minicore_myopathy_with_external_ophthalmoplegia|MINICORE_MYOPATHY_WITH_EXTERNAL_OPHTHALMOPLEGIA;ALL_PMIDS=20301467|20839240|22009146|23788249|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1290|Genetic_Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818|MedGen:C1850674|OMIM:255320|Office_of_Rare_Diseases:10316|Orphanet:598;DATES_ORDERED=2012-09-07 -19 38994959 . C T . . START=38994959;STOP=38994959;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12985;RCV=RCV000013857;SCV=SCV000034104;ALLELE_ID=28024;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.8026C>T;HGVS_P=NP_000531.2:p.Arg2676Trp;MOLECULAR_CONSEQUENCE=NM_000540.2:c.8026C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_02..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Malignant_hyperthermia..susceptibility_to..1|MALIGNANT_HYPERTHERMIA..SUSCEPTIBILITY_TO..1;ALL_PMIDS=14732627|14870754|16163667|16917943|20301325|23788249|25356965|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1146|MedGen:CN031421|OMIM:145600|Office_of_Rare_Diseases:3363|Orphanet:423;DATES_ORDERED=2004-01-01 -19 38995998 . C G . . START=38995998;STOP=38995998;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12985;RCV=RCV000013857;SCV=SCV000034104;ALLELE_ID=38459;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.8360C>G;HGVS_P=NP_000531.2:p.Thr2787Ser;MOLECULAR_CONSEQUENCE=NM_000540.2:c.8360C>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Malignant_hyperthermia..susceptibility_to..1|MALIGNANT_HYPERTHERMIA..SUSCEPTIBILITY_TO..1;ALL_PMIDS=14732627|14870754|16163667|16917943|20301325|23788249|25356965|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1146|MedGen:CN031421|OMIM:145600|Office_of_Rare_Diseases:3363|Orphanet:423;DATES_ORDERED=2004-01-01 -19 39002893 . T C . . START=39002893;STOP=39002893;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=29876;RCV=RCV000022757;SCV=SCV000044046;ALLELE_ID=51078;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.9242T>C;HGVS_P=NP_000531.2:p.Met3081Thr;MOLECULAR_CONSEQUENCE=NM_000540.2:c.9242T>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Minicore_myopathy_with_external_ophthalmoplegia|MINICORE_MYOPATHY_WITH_EXTERNAL_OPHTHALMOPLEGIA;ALL_PMIDS=20301467|20839240|22009146|23788249|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1290|Genetic_Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818|MedGen:C1850674|OMIM:255320|Office_of_Rare_Diseases:10316|Orphanet:598;DATES_ORDERED=2012-09-07 -19 42364887 . G T . . START=42364887;STOP=42364887;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=6319;RCV=RCV000033188;SCV=SCV000057024;ALLELE_ID=21358;SYMBOL=RPS19;HGVS_C=NM_001022.3:c.43G>T;HGVS_P=NP_001013.1:p.Val15Phe;MOLECULAR_CONSEQUENCE=NM_001022.3:c.43G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_03..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Diamond-Blackfan_anemia_1|DIAMOND-BLACKFAN_ANEMIA_1;ALL_PMIDS=12586610|20301769;ORIGIN=germline;XREFS=GeneReviews:NBK7047|Genetic_Alliance:Diamond-Blackfan+anemia+1/8226|MedGen:C2676137|OMIM:105650|Orphanet:124;DATES_ORDERED=2003-06-15 -19 42365273 . C T . . START=42365273;STOP=42365273;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=6319;RCV=RCV000033188;SCV=SCV000057024;ALLELE_ID=38387;SYMBOL=RPS19;HGVS_C=NM_001022.3:c.164C>T;HGVS_P=NP_001013.1:p.Thr55Met;MOLECULAR_CONSEQUENCE=NM_001022.3:c.164C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_29..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Diamond-Blackfan_anemia_1|DIAMOND-BLACKFAN_ANEMIA_1;ALL_PMIDS=12586610|20301769;ORIGIN=germline;XREFS=GeneReviews:NBK7047|Genetic_Alliance:Diamond-Blackfan+anemia+1/8226|MedGen:C2676137|OMIM:105650|Orphanet:124;DATES_ORDERED=2003-06-15 +19 38979992 . AAG A . . START=38979995;STOP=38979996;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=29876;RCV=RCV000022757;SCV=SCV000044046;ALLELE_ID=38831;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.5726_5727delAG;HGVS_P=NP_000531.2:p.Glu1909Glyfs;MOLECULAR_CONSEQUENCE=NM_000540.2:c.5726_5727delAG:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..2010;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Minicore_myopathy_with_external_ophthalmoplegia|MINICORE_MYOPATHY_WITH_EXTERNAL_OPHTHALMOPLEGIA;ALL_PMIDS=20301467|20839240|22009146|23788249|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1290|Genetic_Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818|MedGen:C1850674|OMIM:255320|Office_of_Rare_Diseases:10316|Orphanet:598;DATES_ORDERED=2010-11-01 +19 38994959 . C T . . START=38994959;STOP=38994959;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12985;RCV=RCV000013857;SCV=SCV000034104;ALLELE_ID=28024;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.8026C>T;HGVS_P=NP_000531.2:p.Arg2676Trp;MOLECULAR_CONSEQUENCE=NM_000540.2:c.8026C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_02..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Malignant_hyperthermia..susceptibility_to..1|MALIGNANT_HYPERTHERMIA..SUSCEPTIBILITY_TO..1;ALL_PMIDS=14732627|14870754|16163667|16917943|20301325|23788249|25356965|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1146|MedGen:CN031421|OMIM:145600|Office_of_Rare_Diseases:3363|Orphanet:423;DATES_ORDERED=2004-01-01 +19 38995998 . C G . . START=38995998;STOP=38995998;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=12985;RCV=RCV000013857;SCV=SCV000034104;ALLELE_ID=38459;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.8360C>G;HGVS_P=NP_000531.2:p.Thr2787Ser;MOLECULAR_CONSEQUENCE=NM_000540.2:c.8360C>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_10..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Malignant_hyperthermia..susceptibility_to..1|MALIGNANT_HYPERTHERMIA..SUSCEPTIBILITY_TO..1;ALL_PMIDS=14732627|14870754|16163667|16917943|20301325|23788249|25356965|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1146|MedGen:CN031421|OMIM:145600|Office_of_Rare_Diseases:3363|Orphanet:423;DATES_ORDERED=2004-01-01 +19 39002893 . T C . . START=39002893;STOP=39002893;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=29876;RCV=RCV000022757;SCV=SCV000044046;ALLELE_ID=51078;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.9242T>C;HGVS_P=NP_000531.2:p.Met3081Thr;MOLECULAR_CONSEQUENCE=NM_000540.2:c.9242T>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Minicore_myopathy_with_external_ophthalmoplegia|MINICORE_MYOPATHY_WITH_EXTERNAL_OPHTHALMOPLEGIA;ALL_PMIDS=20301467|20839240|22009146|23788249|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1290|Genetic_Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818|MedGen:C1850674|OMIM:255320|Office_of_Rare_Diseases:10316|Orphanet:598;DATES_ORDERED=2010-11-01 +19 39013851 . C G . . START=39013851;STOP=39013851;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=65396;RCV=RCV000022758;SCV=SCV000044047;ALLELE_ID=70540;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.10348-6C>G;MOLECULAR_CONSEQUENCE=NM_000540.2:c.10348-6C>G:intron_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_11..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Minicore_myopathy_with_external_ophthalmoplegia|MINICORE_MYOPATHY_WITH_EXTERNAL_OPHTHALMOPLEGIA;ALL_PMIDS=18253926|20301467|20839240|22009146|23788249|27854218|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1290|Genetic_Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818|MedGen:C1850674|OMIM:255320|Office_of_Rare_Diseases:10316|Orphanet:598;DATES_ORDERED=2010-11-01 +19 39071022 . G A . . START=39071022;STOP=39071022;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=65396;RCV=RCV000022758;SCV=SCV000044047;ALLELE_ID=38832;SYMBOL=RYR1;HGVS_C=NM_000540.2:c.14524G>A;HGVS_P=NP_000531.2:p.Val4842Met;MOLECULAR_CONSEQUENCE=NM_000540.2:c.14524G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_11..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Minicore_myopathy_with_external_ophthalmoplegia|MINICORE_MYOPATHY_WITH_EXTERNAL_OPHTHALMOPLEGIA;ALL_PMIDS=18253926|20301467|20839240|22009146|23788249|27854218|27854360;ORIGIN=germline;XREFS=GeneReviews:NBK1290|Genetic_Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818|MedGen:C1850674|OMIM:255320|Office_of_Rare_Diseases:10316|Orphanet:598;DATES_ORDERED=2010-11-01 +19 42364887 . G T . . START=42364887;STOP=42364887;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=6319;RCV=RCV000033188;SCV=SCV000057024;ALLELE_ID=21358;SYMBOL=RPS19;HGVS_C=NM_001022.3:c.43G>T;HGVS_P=NP_001013.1:p.Val15Phe;MOLECULAR_CONSEQUENCE=NM_001022.3:c.43G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_03..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Diamond-Blackfan_anemia_1|DIAMOND-BLACKFAN_ANEMIA_1;ALL_PMIDS=12586610|20301769;ORIGIN=germline;XREFS=GeneReviews:NBK7047|Genetic_Alliance:Diamond-Blackfan+anemia+1/8226|MedGen:C2676137|OMIM:105650|Orphanet:124;DATES_ORDERED=2003-06-15 +19 42365273 . C T . . START=42365273;STOP=42365273;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=6319;RCV=RCV000033188;SCV=SCV000057024;ALLELE_ID=38387;SYMBOL=RPS19;HGVS_C=NM_001022.3:c.164C>T;HGVS_P=NP_001013.1:p.Thr55Met;MOLECULAR_CONSEQUENCE=NM_001022.3:c.164C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_13..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Diamond-Blackfan_anemia_1|DIAMOND-BLACKFAN_ANEMIA_1;ALL_PMIDS=12586610|20301769;ORIGIN=germline;XREFS=GeneReviews:NBK7047|Genetic_Alliance:Diamond-Blackfan+anemia+1/8226|MedGen:C2676137|OMIM:105650|Orphanet:124;DATES_ORDERED=2003-06-15 +19 45411064 . G A . . START=45411064;STOP=45411064;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441264;RCV=RCV000019443;SCV=SCV000039733;ALLELE_ID=32899;SYMBOL=APOE;HGVS_C=NM_000041.3:c.91G>A;HGVS_P=NP_000032.1:p.Glu31Lys;MOLECULAR_CONSEQUENCE=NM_000041.3:c.91G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..1992;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_type_3_hyperlipoproteinemia|HYPERLIPOPROTEINEMIA..TYPE_III..DUE_TO_APOE4-PHILADELPHIA;ALL_PMIDS=1361196|1674745|22962670;ORIGIN=germline;XREFS=MedGen:C0020479|OMIM:617347|SNOMED_CT:398796005;DATES_ORDERED=1992-11-01 +19 45411110 . T C . . START=45411110;STOP=45411110;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441268;RCV=RCV000019456;SCV=SCV000039746;ALLELE_ID=32909;SYMBOL=APOE;HGVS_C=NM_000041.3:c.137T>C;HGVS_P=NP_000032.1:p.Leu46Pro;MOLECULAR_CONSEQUENCE=NM_000041.3:c.137T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_15..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=APOE4(-)-FREIBURG|APOE4(-)-FREIBURG;ALL_PMIDS=21500874;ORIGIN=germline;XREFS=OMIM:107741.0023;DATES_ORDERED=2017-02-15 +19 45411858 . C G . . START=45411858;STOP=45411858;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441269;RCV=RCV000019458;SCV=SCV000039748;ALLELE_ID=32911;SYMBOL=APOE;HGVS_C=NM_000041.3:c.305C>G;HGVS_P=NP_000032.1:p.Pro102Arg;MOLECULAR_CONSEQUENCE=NM_000041.3:c.305C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=association;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_10..2018;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=APOE4_VARIANT|APOE4_VARIANT;ALL_PMIDS=18583979|21500874|2341812|3585172;ORIGIN=germline;XREFS=OMIM:107741.0025|OMIM:107741.0028;DATES_ORDERED=2018-01-10 +19 45411902 . G A . . START=45411902;STOP=45411902;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441270;RCV=RCV000019459;SCV=SCV000039749;ALLELE_ID=32912;SYMBOL=APOE;HGVS_C=NM_000041.3:c.349G>A;HGVS_P=NP_000032.1:p.Ala117Thr;MOLECULAR_CONSEQUENCE=NM_000041.3:c.349G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2008;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=APOE3_VARIANT|APOE3_VARIANT;ALL_PMIDS=18583979|6327682;ORIGIN=germline;XREFS=OMIM:107741.0026;DATES_ORDERED=2008-07-01 +19 45411941 . T C . . START=45411941;STOP=45411941;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=440870|441267|441268|441269;RCV=RCV000019438|RCV000019455|RCV000019456|RCV000019458;SCV=SCV000039727|SCV000039745|SCV000039746|SCV000039748;ALLELE_ID=32903;SYMBOL=APOE;HGVS_C=NM_000041.3:c.388T>C;HGVS_P=NP_000032.1:p.Cys130Arg;MOLECULAR_CONSEQUENCE=NM_000041.3:c.388T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|association;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_10..2018;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_type_3_hyperlipoproteinemia|HYPERLIPOPROTEINEMIA..TYPE_III..AUTOSOMAL_DOMINANT|HYPERLIPOPROTEINEMIA..TYPE_III..ASSOCIATED_WITH_APOE4|APOE4(-)-FREIBURG|APOE4_VARIANT;ALL_PMIDS=1730728|21500874|22962670|25333069|2539388|6860421|8488843|18583979|2341812|3585172;ORIGIN=germline;XREFS=MedGen:C0020479|OMIM:617347|SNOMED_CT:398796005|OMIM:107741.0023|OMIM:107741.0025|OMIM:107741.0028;DATES_ORDERED=2017-02-14|1993-05-01|2017-02-15|2018-01-10 +19 45411987 . G A . . START=45411987;STOP=45411987;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441262;RCV=RCV000019439;SCV=SCV000039729;ALLELE_ID=32895;SYMBOL=APOE;HGVS_C=NM_000041.3:c.434G>A;HGVS_P=NP_000032.1:p.Gly145Asp;MOLECULAR_CONSEQUENCE=NM_000041.3:c.434G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_01..1984;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Apolipoproteinemia_E1|APOLIPOPROTEINEMIA_E1;ALL_PMIDS=6323533;ORIGIN=germline;DATES_ORDERED=1984-04-01 +19 45412031 . C T . . START=45412031;STOP=45412031;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=440870;RCV=RCV000019438;SCV=SCV000039727;ALLELE_ID=38488;SYMBOL=APOE;HGVS_C=NM_000041.3:c.478C>T;HGVS_P=NP_000032.1:p.Arg160Cys;MOLECULAR_CONSEQUENCE=NM_000041.3:c.478C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_14..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_type_3_hyperlipoproteinemia|HYPERLIPOPROTEINEMIA..TYPE_III..AUTOSOMAL_DOMINANT;ALL_PMIDS=1730728|21500874|22962670|25333069|2539388|6860421;ORIGIN=germline;XREFS=MedGen:C0020479|OMIM:617347|SNOMED_CT:398796005;DATES_ORDERED=2017-02-14 +19 45412040 . C T . . START=45412040;STOP=45412040;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441264;RCV=RCV000019443;SCV=SCV000039733;ALLELE_ID=32890;SYMBOL=APOE;HGVS_C=NM_000041.3:c.487C>T;HGVS_P=NP_000032.1:p.Arg163Cys;MOLECULAR_CONSEQUENCE=NM_000041.3:c.487C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_01..1992;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_type_3_hyperlipoproteinemia|HYPERLIPOPROTEINEMIA..TYPE_III..DUE_TO_APOE4-PHILADELPHIA;ALL_PMIDS=1361196|1674745|22962670;ORIGIN=germline;XREFS=MedGen:C0020479|OMIM:617347|SNOMED_CT:398796005;DATES_ORDERED=1992-11-01 +19 45412061 . G C . . START=45412061;STOP=45412061;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441270;RCV=RCV000019459;SCV=SCV000039749;ALLELE_ID=38495;SYMBOL=APOE;HGVS_C=NM_000041.3:c.508G>C;HGVS_P=NP_000032.1:p.Ala170Pro;MOLECULAR_CONSEQUENCE=NM_000041.3:c.508G>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2008;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=APOE3_VARIANT|APOE3_VARIANT;ALL_PMIDS=18583979|6327682;ORIGIN=germline;XREFS=OMIM:107741.0026;DATES_ORDERED=2008-07-01 +19 45412079 . C T . . START=45412079;STOP=45412079;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441262|441265|441266;RCV=RCV000019439|RCV000019452|RCV000019454;SCV=SCV000039729|SCV000039741|SCV000039744;ALLELE_ID=32887;SYMBOL=APOE;HGVS_C=NM_000041.3:c.526C>T;HGVS_P=NP_000032.1:p.Arg176Cys;MOLECULAR_CONSEQUENCE=NM_000041.3:c.526C>T:missense_variant;CLINICAL_SIGNIFICANCE=drug_response;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_21..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Apolipoproteinemia_E1|APOLIPOPROTEINEMIA_E1|Familial_type_3_hyperlipoproteinemia|HYPERLIPOPROTEINEMIA..TYPE_III|HYPERLIPOPROTEINEMIA..TYPE_III..ASSOCIATED_WITH_APOE2;ALL_PMIDS=6323533|22962670|8664327|8488843;ORIGIN=germline;XREFS=MedGen:C0020479|OMIM:617347|SNOMED_CT:398796005;DATES_ORDERED=1984-04-01|2017-02-21|1993-05-01 +19 45412278 . G A . . START=45412278;STOP=45412278;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441265;RCV=RCV000019452;SCV=SCV000039741;ALLELE_ID=38490;SYMBOL=APOE;HGVS_C=NM_000041.3:c.725G>A;HGVS_P=NP_000032.1:p.Arg242Gln;MOLECULAR_CONSEQUENCE=NM_000041.3:c.725G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_21..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_type_3_hyperlipoproteinemia|HYPERLIPOPROTEINEMIA..TYPE_III;ALL_PMIDS=22962670|8664327;ORIGIN=germline;XREFS=MedGen:C0020479|OMIM:617347|SNOMED_CT:398796005;DATES_ORDERED=2017-02-21 +19 45412314 . T A . . START=45412314;STOP=45412314;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441266;RCV=RCV000019454;SCV=SCV000039744;ALLELE_ID=38491;SYMBOL=APOE;HGVS_C=NM_000041.3:c.761T>A;HGVS_P=NP_000032.1:p.Val254Glu;MOLECULAR_CONSEQUENCE=NM_000041.3:c.761T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_type_3_hyperlipoproteinemia|HYPERLIPOPROTEINEMIA..TYPE_III..ASSOCIATED_WITH_APOE2;ALL_PMIDS=22962670|8488843;ORIGIN=germline;XREFS=MedGen:C0020479|OMIM:617347|SNOMED_CT:398796005;DATES_ORDERED=1993-05-01 +19 45412337 . G A . . START=45412337;STOP=45412337;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441263;RCV=RCV000019435;SCV=SCV000039725;ALLELE_ID=32893;SYMBOL=APOE;HGVS_C=NM_000041.3:c.784G>A;HGVS_P=NP_000032.1:p.Glu262Lys;MOLECULAR_CONSEQUENCE=NM_000041.3:c.784G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..1995;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HYPERLIPOPROTEINEMIA..TYPE_III..AND_ATHEROSCLEROSIS_ASSOCIATED_WITH_APOE7|HYPERLIPOPROTEINEMIA..TYPE_III..AND_ATHEROSCLEROSIS_ASSOCIATED_WITH_APOE7;ALL_PMIDS=2470732|2738044|6480826|7586659;ORIGIN=germline;XREFS=OMIM:107741.0007;DATES_ORDERED=1995-08-01 +19 45412340 . G A . . START=45412340;STOP=45412340;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441263;RCV=RCV000019435;SCV=SCV000039725;ALLELE_ID=38487;SYMBOL=APOE;HGVS_C=NM_000041.3:c.787G>A;HGVS_P=NP_000032.1:p.Glu263Lys;MOLECULAR_CONSEQUENCE=NM_000041.3:c.787G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..1995;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=HYPERLIPOPROTEINEMIA..TYPE_III..AND_ATHEROSCLEROSIS_ASSOCIATED_WITH_APOE7|HYPERLIPOPROTEINEMIA..TYPE_III..AND_ATHEROSCLEROSIS_ASSOCIATED_WITH_APOE7;ALL_PMIDS=2470732|2738044|6480826|7586659;ORIGIN=germline;XREFS=OMIM:107741.0007;DATES_ORDERED=1995-08-01 +19 45412358 . C G . . START=45412358;STOP=45412358;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441267;RCV=RCV000019455;SCV=SCV000039745;ALLELE_ID=38492;SYMBOL=APOE;HGVS_C=NM_000041.3:c.805C>G;HGVS_P=NP_000032.1:p.Arg269Gly;MOLECULAR_CONSEQUENCE=NM_000041.3:c.805C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_01..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_type_3_hyperlipoproteinemia|HYPERLIPOPROTEINEMIA..TYPE_III..ASSOCIATED_WITH_APOE4;ALL_PMIDS=21500874|22962670|8488843;ORIGIN=germline;XREFS=MedGen:C0020479|OMIM:617347|SNOMED_CT:398796005;DATES_ORDERED=1993-05-01 19 47258781 . C A . . START=47258781;STOP=47258781;STRAND=+;VARIATION_TYPE=Phase_unknown;VARIATION_ID=224674;RCV=RCV000226653;SCV=SCV000265787;ALLELE_ID=226485;SYMBOL=FKRP;HGVS_C=NM_024301.4:c.74C>A;HGVS_P=NP_077277.1:p.Ser25Ter;MOLECULAR_CONSEQUENCE=NM_024301.4:c.74C>A:nonsense;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_01..2015;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;SUBMITTERS_ORDERED=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy-dystroglycanopathy..type_C5;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=Genetic_Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754|MedGen:C1846672|OMIM:606596.0004|OMIM:606596.0005|OMIM:606596.0006|OMIM:606596.0011|OMIM:606596.0012|OMIM:606596.0013|OMIM:606596.0014|OMIM:606596.0015|OMIM:606596.0016|OMIM:607155|Orphanet:34515;DATES_ORDERED=2015-12-01 19 47258781 . CGT C . . START=47258783;STOP=47258784;STRAND=+;VARIATION_TYPE=Phase_unknown;VARIATION_ID=224674;RCV=RCV000226653;SCV=SCV000265787;ALLELE_ID=226486;SYMBOL=FKRP;HGVS_C=NM_024301.4:c.76_77delTG;HGVS_P=NP_077277.1:p.Trp26Alafs;MOLECULAR_CONSEQUENCE=NM_024301.4:c.76_77delTG:frameshift_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_01..2015;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;SUBMITTERS_ORDERED=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy-dystroglycanopathy..type_C5;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=Genetic_Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754|MedGen:C1846672|OMIM:606596.0004|OMIM:606596.0005|OMIM:606596.0006|OMIM:606596.0011|OMIM:606596.0012|OMIM:606596.0013|OMIM:606596.0014|OMIM:606596.0015|OMIM:606596.0016|OMIM:607155|Orphanet:34515;DATES_ORDERED=2015-12-01 -19 47259533 . C A . . START=47259533;STOP=47259533;STRAND=+;VARIATION_TYPE=Phase_unknown;VARIATION_ID=224674;RCV=RCV000226653;SCV=SCV000265787;ALLELE_ID=19260;SYMBOL=FKRP;HGVS_C=NM_024301.4:c.826C>A;HGVS_P=NP_077277.1:p.Leu276Ile;MOLECULAR_CONSEQUENCE=NM_024301.4:c.826C>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_18..2017;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;SUBMITTERS_ORDERED=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy-dystroglycanopathy..type_C5;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=Genetic_Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754|MedGen:C1846672|OMIM:606596.0004|OMIM:606596.0005|OMIM:606596.0006|OMIM:606596.0011|OMIM:606596.0012|OMIM:606596.0013|OMIM:606596.0014|OMIM:606596.0015|OMIM:606596.0016|OMIM:607155|Orphanet:34515;DATES_ORDERED=2015-12-01 -20 4680251 . A G . . START=4680251;STOP=4680251;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13399;RCV=RCV000014336|RCV000014337;SCV=SCV000034585|SCV000034586;ALLELE_ID=28436;SYMBOL=PRNP;HGVS_C=NM_000311.4:c.385A>G;HGVS_P=NP_000302.1:p.Met129Val;MOLECULAR_CONSEQUENCE=NM_000311.4:c.385A>G:missense_variant|NM_001271561.1:c.*74A>G:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign..risk_factor;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Jakob-Creutzfeldt_disease|CREUTZFELDT-JAKOB_DISEASE|Fatal_familial_insomnia;ALL_PMIDS=10581230|12205650|1353341|1353342|1469441|16227536|1671440|1671983|1684756|19038218|20298421|20301407|7709737|9751723;ORIGIN=germline;XREFS=GeneReviews:NBK1229|Genetic_Alliance:Creutzfeldt-Jakob+Disease/2006|MedGen:C0022336|OMIM:123400|Office_of_Rare_Diseases:6956|Orphanet:204|Orphanet:282166|Orphanet:454700|SNOMED_CT:792004|Genetic_Alliance:Fatal+Familial+Insomnia/2793|MedGen:C0206042|OMIM:600072|Orphanet:466|SNOMED_CT:83157008;DATES_ORDERED=2008-11-26 -20 4680398 . G A . . START=4680398;STOP=4680398;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13399;RCV=RCV000014336|RCV000014337;SCV=SCV000034585|SCV000034586;ALLELE_ID=28438;SYMBOL=PRNP;HGVS_C=NM_000311.4:c.532G>A;HGVS_P=NP_000302.1:p.Asp178Asn;MOLECULAR_CONSEQUENCE=NM_000311.4:c.532G>A:missense_variant|NM_001271561.1:c.*221G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_05..2010;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Jakob-Creutzfeldt_disease|CREUTZFELDT-JAKOB_DISEASE|Fatal_familial_insomnia;ALL_PMIDS=10581230|12205650|1353341|1353342|1469441|16227536|1671440|1671983|1684756|19038218|20298421|20301407|7709737|9751723;ORIGIN=germline;XREFS=GeneReviews:NBK1229|Genetic_Alliance:Creutzfeldt-Jakob+Disease/2006|MedGen:C0022336|OMIM:123400|Office_of_Rare_Diseases:6956|Orphanet:204|Orphanet:282166|Orphanet:454700|SNOMED_CT:792004|Genetic_Alliance:Fatal+Familial+Insomnia/2793|MedGen:C0206042|OMIM:600072|Orphanet:466|SNOMED_CT:83157008;DATES_ORDERED=2008-11-26 -20 10393439 . C A . . START=10393439;STOP=10393439;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=5308;RCV=RCV000005632;SCV=SCV000025814;ALLELE_ID=38435;SYMBOL=MKKS;HGVS_C=NM_170784.2:c.724G>T;HGVS_P=NP_740754.1:p.Ala242Ser;MOLECULAR_CONSEQUENCE=NM_170784.2:c.724G>T:missense_variant|NR_072977.1:n.364-3988G>T:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_25..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=McKusick_Kaufman_syndrome|MCKUSICK-KAUFMAN_SYNDROME;ALL_PMIDS=10802661|16104012|20301675;ORIGIN=germline;XREFS=GeneReviews:NBK1502|Genetic_Alliance:McKusick+Kaufman+syndrome/4529|MedGen:C0948368|OMIM:236700|Office_of_Rare_Diseases:3427|Orphanet:2473;DATES_ORDERED=2005-09-15 -20 10393913 . G A . . START=10393913;STOP=10393913;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=5308;RCV=RCV000005632;SCV=SCV000025814;ALLELE_ID=20347;SYMBOL=MKKS;HGVS_C=NM_170784.2:c.250C>T;HGVS_P=NP_740754.1:p.His84Tyr;MOLECULAR_CONSEQUENCE=NM_170784.2:c.250C>T:missense_variant|NR_072977.1:n.364-4462C>T:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_15..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=McKusick_Kaufman_syndrome|MCKUSICK-KAUFMAN_SYNDROME;ALL_PMIDS=10802661|16104012|20301675;ORIGIN=germline;XREFS=GeneReviews:NBK1502|Genetic_Alliance:McKusick+Kaufman+syndrome/4529|MedGen:C0948368|OMIM:236700|Office_of_Rare_Diseases:3427|Orphanet:2473;DATES_ORDERED=2005-09-15 +19 47259533 . C A . . START=47259533;STOP=47259533;STRAND=+;VARIATION_TYPE=Phase_unknown;VARIATION_ID=224674;RCV=RCV000226653;SCV=SCV000265787;ALLELE_ID=19260;SYMBOL=FKRP;HGVS_C=NM_024301.4:c.826C>A;HGVS_P=NP_077277.1:p.Leu276Ile;MOLECULAR_CONSEQUENCE=NM_024301.4:c.826C>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_07..2017;ALL_SUBMITTERS=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;SUBMITTERS_ORDERED=Center_for_Genetic_Medicine_Research..Children's_National_Medical_Center;ALL_TRAITS=Limb-girdle_muscular_dystrophy-dystroglycanopathy..type_C5;ALL_PMIDS=27854218;ORIGIN=unknown;XREFS=Genetic_Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754|MedGen:C1846672|OMIM:606596.0004|OMIM:606596.0005|OMIM:606596.0006|OMIM:606596.0011|OMIM:606596.0012|OMIM:606596.0013|OMIM:606596.0014|OMIM:606596.0015|OMIM:606596.0016|OMIM:607155|Orphanet:34515;DATES_ORDERED=2015-12-01 +19 49468583 . C T . . START=49468583;STOP=49468583;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441527;RCV=RCV000017941;SCV=SCV000038220;ALLELE_ID=31516;SYMBOL=FTL;HGVS_C=NM_000146.3:c.-182C>T;MOLECULAR_CONSEQUENCE=NM_000146.3:c.-182C>T:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_19..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hyperferritinemia_cataract_syndrome|HYPERFERRITINEMIA_WITH_OR_WITHOUT_CATARACT;ALL_PMIDS=23421845|9226182;ORIGIN=germline;XREFS=Genetic_Alliance:Hyperferritinemia+cataract+syndrome/3553|Genetics_Home_Reference:hyperferritinemia-cataract-syndrome|MedGen:C1833213|OMIM:134790.0001|OMIM:134790.0002|OMIM:134790.0003|OMIM:134790.0004|OMIM:134790.0005|OMIM:134790.0006|OMIM:134790.0007|OMIM:134790.0008|OMIM:134790.0009|OMIM:134790.0011|OMIM:134790.0012|OMIM:134790.0017|OMIM:134790.0020|OMIM:600886|Office_of_Rare_Diseases:2806|Orphanet:163;DATES_ORDERED=2013-02-19 +19 49468587 . T G . . START=49468587;STOP=49468587;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=441527;RCV=RCV000017941;SCV=SCV000038220;ALLELE_ID=260732;SYMBOL=FTL;HGVS_C=NM_000146.3:c.-178T>G;MOLECULAR_CONSEQUENCE=NM_000146.3:c.-178T>G:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_19..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Hyperferritinemia_cataract_syndrome|HYPERFERRITINEMIA_WITH_OR_WITHOUT_CATARACT;ALL_PMIDS=23421845|9226182;ORIGIN=germline;XREFS=Genetic_Alliance:Hyperferritinemia+cataract+syndrome/3553|Genetics_Home_Reference:hyperferritinemia-cataract-syndrome|MedGen:C1833213|OMIM:134790.0001|OMIM:134790.0002|OMIM:134790.0003|OMIM:134790.0004|OMIM:134790.0005|OMIM:134790.0006|OMIM:134790.0007|OMIM:134790.0008|OMIM:134790.0009|OMIM:134790.0011|OMIM:134790.0012|OMIM:134790.0017|OMIM:134790.0020|OMIM:600886|Office_of_Rare_Diseases:2806|Orphanet:163;DATES_ORDERED=2013-02-19 +19 49519883 . A G . . START=49519883;STOP=49519883;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=441529;RCV=RCV000015495;SCV=SCV000035760;ALLELE_ID=38465;SYMBOL=LHB;HGVS_C=NM_000894.2:c.104T>C;HGVS_P=NP_000885.1:p.Ile35Thr;MOLECULAR_CONSEQUENCE=NM_000894.2:c.104T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..2003;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=LUTEINIZING_HORMONE_POLYMORPHISM|LUTEINIZING_HORMONE_POLYMORPHISM;ALL_PMIDS=10199775|10323405|10468997|12620433|1727817|7714098|7904610|8784083;ORIGIN=germline;XREFS=OMIM:152780.0002;DATES_ORDERED=2003-03-01 +19 49519905 . A G . . START=49519905;STOP=49519905;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=441529;RCV=RCV000015495;SCV=SCV000035760;ALLELE_ID=29453;SYMBOL=LHB;HGVS_C=NM_000894.2:c.82T>C;HGVS_P=NP_000885.1:p.Trp28Arg;MOLECULAR_CONSEQUENCE=NM_000894.2:c.82T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_01..2003;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=LUTEINIZING_HORMONE_POLYMORPHISM|LUTEINIZING_HORMONE_POLYMORPHISM;ALL_PMIDS=10199775|10323405|10468997|12620433|1727817|7714098|7904610|8784083;ORIGIN=germline;XREFS=OMIM:152780.0002;DATES_ORDERED=2003-03-01 +20 4680251 . A G . . START=4680251;STOP=4680251;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13399|453225|453226;RCV=RCV000014337|RCV000032588|RCV000014336;SCV=SCV000034586|SCV000034587|SCV000034585;ALLELE_ID=28436;SYMBOL=PRNP;HGVS_C=NM_000311.4:c.385A>G;HGVS_P=NP_000302.1:p.Met129Val;MOLECULAR_CONSEQUENCE=NM_000311.4:c.385A>G:missense_variant|NM_001271561.1:c.*74A>G:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign..risk_factor;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Fatal_familial_insomnia|FATAL_FAMILIAL_INSOMNIA|Jakob-Creutzfeldt_disease|CREUTZFELDT-JAKOB_DISEASE;ALL_PMIDS=10581230|12205650|1353341|1353342|1469441|16227536|1671440|1671983|1684756|19038218|20301407|7709737|9751723|1347910|1357594|14732629|15623717|15806397|20038778|7630420|7783865|8105681|20298421;ORIGIN=germline;XREFS=GeneReviews:NBK1229|Genetic_Alliance:Fatal+Familial+Insomnia/2793|MedGen:C0206042|OMIM:600072|Orphanet:466|SNOMED_CT:83157008|Genetic_Alliance:Creutzfeldt-Jakob+Disease/2006|MedGen:C0022336|OMIM:123400|Office_of_Rare_Diseases:6956|Orphanet:204|Orphanet:282166|Orphanet:454700|SNOMED_CT:792004;DATES_ORDERED=2008-11-26|2010-01-05 +20 4680398 . G A . . START=4680398;STOP=4680398;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=13399|453225|453226;RCV=RCV000014337|RCV000032588|RCV000014336;SCV=SCV000034586|SCV000034587|SCV000034585;ALLELE_ID=28438;SYMBOL=PRNP;HGVS_C=NM_000311.4:c.532G>A;HGVS_P=NP_000302.1:p.Asp178Asn;MOLECULAR_CONSEQUENCE=NM_000311.4:c.532G>A:missense_variant|NM_001271561.1:c.*221G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_05..2010;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Fatal_familial_insomnia|FATAL_FAMILIAL_INSOMNIA|Jakob-Creutzfeldt_disease|CREUTZFELDT-JAKOB_DISEASE;ALL_PMIDS=10581230|12205650|1353341|1353342|1469441|16227536|1671440|1671983|1684756|19038218|20301407|7709737|9751723|1347910|1357594|14732629|15623717|15806397|20038778|7630420|7783865|8105681|20298421;ORIGIN=germline;XREFS=GeneReviews:NBK1229|Genetic_Alliance:Fatal+Familial+Insomnia/2793|MedGen:C0206042|OMIM:600072|Orphanet:466|SNOMED_CT:83157008|Genetic_Alliance:Creutzfeldt-Jakob+Disease/2006|MedGen:C0022336|OMIM:123400|Office_of_Rare_Diseases:6956|Orphanet:204|Orphanet:282166|Orphanet:454700|SNOMED_CT:792004;DATES_ORDERED=2008-11-26|2010-01-05 +20 10393439 . C A . . START=10393439;STOP=10393439;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=448914;RCV=RCV000005632;SCV=SCV000025814;ALLELE_ID=38435;SYMBOL=MKKS;HGVS_C=NM_170784.2:c.724G>T;HGVS_P=NP_740754.1:p.Ala242Ser;MOLECULAR_CONSEQUENCE=NM_170784.2:c.724G>T:missense_variant|NR_072977.1:n.364-3988G>T:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_15..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=McKusick_Kaufman_syndrome|MCKUSICK-KAUFMAN_SYNDROME;ALL_PMIDS=10802661|16104012|20301675;ORIGIN=germline;XREFS=GeneReviews:NBK1502|Genetic_Alliance:McKusick+Kaufman+syndrome/4529|MedGen:C0948368|OMIM:236700|Office_of_Rare_Diseases:3427|Orphanet:2473;DATES_ORDERED=2005-09-15 +20 10393913 . G A . . START=10393913;STOP=10393913;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=448914;RCV=RCV000005632;SCV=SCV000025814;ALLELE_ID=20347;SYMBOL=MKKS;HGVS_C=NM_170784.2:c.250C>T;HGVS_P=NP_740754.1:p.His84Tyr;MOLECULAR_CONSEQUENCE=NM_170784.2:c.250C>T:missense_variant|NR_072977.1:n.364-4462C>T:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_15..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=McKusick_Kaufman_syndrome|MCKUSICK-KAUFMAN_SYNDROME;ALL_PMIDS=10802661|16104012|20301675;ORIGIN=germline;XREFS=GeneReviews:NBK1502|Genetic_Alliance:McKusick+Kaufman+syndrome/4529|MedGen:C0948368|OMIM:236700|Office_of_Rare_Diseases:3427|Orphanet:2473;DATES_ORDERED=2005-09-15 20 39742755 . A G . . START=39742755;STOP=39742755;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=16773;RCV=RCV000018261;SCV=SCV000038540;ALLELE_ID=31812;SYMBOL=TOP1;HGVS_C=NM_003286.3:c.1598A>G;HGVS_P=NP_003277.1:p.Asp533Gly;MOLECULAR_CONSEQUENCE=NM_003286.3:c.1598A>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_11..1991;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=DNA_topoisomerase_I..camptothecin-resistant|DNA_TOPOISOMERASE_I..CAMPTOTHECIN-RESISTANT;ALL_PMIDS=1849260;ORIGIN=germline;XREFS=MedGen:C4016020;DATES_ORDERED=1991-01-11 20 43255143 . G C . . START=43255143;STOP=43255143;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=1981;RCV=RCV000002058;SCV=SCV000022216;ALLELE_ID=38420;SYMBOL=ADA;HGVS_C=NM_000022.3:c.316C>G;HGVS_P=NP_001308979.1:p.Thr9_eq_;MOLECULAR_CONSEQUENCE=NM_000022.3:c.316C>G:missense_variant|NM_001322050.1:c.27C>G:synonymous_variant|NR_136160.1:n.467C>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Severe_combined_immunodeficiency..autosomal_recessive..T_cell-negative..B_cell-negative..NK_cell-negative..due_to_adenosine_deaminase_deficiency|SEVERE_COMBINED_IMMUNODEFICIENCY..AUTOSOMAL_RECESSIVE..T_CELL-NEGATIVE..B_CELL-NEGATIVE..NK_CELL-NEGATIVE..DUE_TO_ADENOSINE_DEAMINASE_DEFICIENCY;ALL_PMIDS=3304460|9361033;ORIGIN=germline;XREFS=MedGen:C0392607;DATES_ORDERED=1997-12-01 20 43255169 . T C . . START=43255169;STOP=43255169;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=1981;RCV=RCV000002058;SCV=SCV000022216;ALLELE_ID=17020;SYMBOL=ADA;HGVS_C=NM_000022.3:c.290A>G;HGVS_P=NP_000013.2:p.Tyr97Cys;MOLECULAR_CONSEQUENCE=NM_000022.3:c.290A>G:missense_variant|NR_136160.1:n.441A>G:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Severe_combined_immunodeficiency..autosomal_recessive..T_cell-negative..B_cell-negative..NK_cell-negative..due_to_adenosine_deaminase_deficiency|SEVERE_COMBINED_IMMUNODEFICIENCY..AUTOSOMAL_RECESSIVE..T_CELL-NEGATIVE..B_CELL-NEGATIVE..NK_CELL-NEGATIVE..DUE_TO_ADENOSINE_DEAMINASE_DEFICIENCY;ALL_PMIDS=3304460|9361033;ORIGIN=germline;XREFS=MedGen:C0392607;DATES_ORDERED=1997-12-01 -20 62044831 . G T . . START=62044831;STOP=62044831;VARIATION_TYPE=Haplotype;VARIATION_ID=369808;RCV=RCV000408720;SCV=SCV000484644;ALLELE_ID=390693;HGVS_C=NM_172107.3:c.1735C>A;HGVS_P=NP_742105.1:p.Leu579Met;MOLECULAR_CONSEQUENCE=NM_172107.3:c.1735C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_31..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Early_infantile_epileptic_encephalopathy_7;ALL_PMIDS=20437616|25818041;ORIGIN=germline;XREFS=GeneReviews:NBK32534|Genetic_Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345|MedGen:C3150986|OMIM:613720|Orphanet:439218;DATES_ORDERED=2016-03-31 -20 62044832 . C T . . START=62044832;STOP=62044832;VARIATION_TYPE=Haplotype;VARIATION_ID=369808;RCV=RCV000408720;SCV=SCV000484644;ALLELE_ID=390692;HGVS_C=NM_172107.3:c.1734G>A;HGVS_P=NP_742105.1:p.Met578Ile;MOLECULAR_CONSEQUENCE=NM_172107.3:c.1734G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_31..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Early_infantile_epileptic_encephalopathy_7;ALL_PMIDS=20437616|25818041;ORIGIN=germline;XREFS=GeneReviews:NBK32534|Genetic_Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345|MedGen:C3150986|OMIM:613720|Orphanet:439218;DATES_ORDERED=2016-03-31 +20 62044831 . G T . . START=62044831;STOP=62044831;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=369808;RCV=RCV000408720;SCV=SCV000484644;ALLELE_ID=390693;SYMBOL=KCNQ2;HGVS_C=NM_172107.3:c.1735C>A;HGVS_P=NP_742105.1:p.Leu579Met;MOLECULAR_CONSEQUENCE=NM_172107.3:c.1735C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_31..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Early_infantile_epileptic_encephalopathy_7;ALL_PMIDS=20437616|25818041;ORIGIN=germline;XREFS=GeneReviews:NBK32534|Genetic_Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345|MedGen:C3150986|OMIM:613720|Orphanet:439218;DATES_ORDERED=2016-03-31 +20 62044831 . GC TT . . START=62044831;STOP=62044832;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=369808;RCV=RCV000408720;SCV=SCV000484644;ALLELE_ID=203721;SYMBOL=KCNQ2;HGVS_C=NM_172107.3:c.1734_1735delGCinsAA;HGVS_P=NP_742105.1:p.Met578_Leu579delinsIleMet;MOLECULAR_CONSEQUENCE=NM_172107.3:c.1734_1735delGCinsAA:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_31..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Early_infantile_epileptic_encephalopathy_7;ALL_PMIDS=20437616|25818041;ORIGIN=germline;XREFS=GeneReviews:NBK32534|Genetic_Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345|MedGen:C3150986|OMIM:613720|Orphanet:439218;DATES_ORDERED=2016-03-31 +20 62044832 . C T . . START=62044832;STOP=62044832;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=369808;RCV=RCV000408720;SCV=SCV000484644;ALLELE_ID=390692;SYMBOL=KCNQ2;HGVS_C=NM_172107.3:c.1734G>A;HGVS_P=NP_742105.1:p.Met578Ile;MOLECULAR_CONSEQUENCE=NM_172107.3:c.1734G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_31..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Early_infantile_epileptic_encephalopathy_7;ALL_PMIDS=20437616|25818041;ORIGIN=germline;XREFS=GeneReviews:NBK32534|Genetic_Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345|MedGen:C3150986|OMIM:613720|Orphanet:439218;DATES_ORDERED=2016-03-31 21 34951753 . T G . . START=34951753;STOP=34951753;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=431417;RCV=RCV000496974;SCV=SCV000588191;ALLELE_ID=424961;SYMBOL=DONSON;HGVS_C=NM_017613.3:c.1466A>C;HGVS_P=NP_060083.1:p.Lys489Thr;MOLECULAR_CONSEQUENCE=NM_017613.3:c.1466A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_04..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=MICROCEPHALY..SHORT_STATURE..AND_LIMB_ABNORMALITIES|MICROCEPHALY..SHORT_STATURE..AND_LIMB_ABNORMALITIES;ALL_PMIDS=28191891;ORIGIN=germline;XREFS=MedGen:CN373593|OMIM:611428.0001|OMIM:611428.0002|OMIM:611428.0003|OMIM:611428.0004|OMIM:611428.0005|OMIM:611428.0006|OMIM:611428.0007|OMIM:617604;DATES_ORDERED=2017-08-04 21 34956005 . T C . . START=34956005;STOP=34956005;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=431417;RCV=RCV000496974;SCV=SCV000588191;ALLELE_ID=424940;SYMBOL=DONSON;HGVS_C=NM_017613.3:c.786-33A>G;MOLECULAR_CONSEQUENCE=NM_017613.3:c.786-33A>G:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_04..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=MICROCEPHALY..SHORT_STATURE..AND_LIMB_ABNORMALITIES|MICROCEPHALY..SHORT_STATURE..AND_LIMB_ABNORMALITIES;ALL_PMIDS=28191891;ORIGIN=germline;XREFS=MedGen:CN373593|OMIM:611428.0001|OMIM:611428.0002|OMIM:611428.0003|OMIM:611428.0004|OMIM:611428.0005|OMIM:611428.0006|OMIM:611428.0007|OMIM:617604;DATES_ORDERED=2017-08-04 21 34960866 . T G . . START=34960866;STOP=34960866;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=431417;RCV=RCV000496974;SCV=SCV000588191;ALLELE_ID=424962;SYMBOL=DONSON;HGVS_C=NM_017613.3:c.82A>C;HGVS_P=NP_060083.1:p.Ser28Arg;MOLECULAR_CONSEQUENCE=NM_017613.3:c.82A>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_04..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=MICROCEPHALY..SHORT_STATURE..AND_LIMB_ABNORMALITIES|MICROCEPHALY..SHORT_STATURE..AND_LIMB_ABNORMALITIES;ALL_PMIDS=28191891;ORIGIN=germline;XREFS=MedGen:CN373593|OMIM:611428.0001|OMIM:611428.0002|OMIM:611428.0003|OMIM:611428.0004|OMIM:611428.0005|OMIM:611428.0006|OMIM:611428.0007|OMIM:617604;DATES_ORDERED=2017-08-04 21 37833740 . A T . . START=37833740;STOP=37833740;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=375673;RCV=RCV000417144;SCV=SCV000494729;ALLELE_ID=19890;SYMBOL=CLDN14;HGVS_C=NM_012130.3:c.254T>A;HGVS_P=NP_036262.1:p.Val85Asp;MOLECULAR_CONSEQUENCE=NM_001146077.1:c.254T>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_30..2016;ALL_SUBMITTERS=Laboratory_of_Molecular_Genetics..National_Institutes_of_Health;SUBMITTERS_ORDERED=Laboratory_of_Molecular_Genetics..National_Institutes_of_Health;ALL_TRAITS=Perrault_Syndrome|Deafness|Primary_ovarian_insufficiency|Perrault_Syndrome;ORIGIN=germline;XREFS=Illumina_Clinical_Services_Laboratory..Illumina:37522|MedGen:CN239459;DATES_ORDERED=2016-08-30 21 47551895 . G A . . START=47551895;STOP=47551895;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=29642;RCV=RCV000022490;SCV=SCV000043779;ALLELE_ID=38596;SYMBOL=COL6A2;HGVS_C=NM_001849.3:c.2489G>A;HGVS_P=NP_001840.3:p.Arg830Gln;MOLECULAR_CONSEQUENCE=NM_001849.3:c.2489G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_08..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=BETHLEM_MYOPATHY_1..AUTOSOMAL_RECESSIVE|BETHLEM_MYOPATHY_1..AUTOSOMAL_RECESSIVE;ALL_PMIDS=18852439|19949035;ORIGIN=germline;XREFS=OMIM:120240.0011|OMIM:120240.0017|OMIM:120240.0018|OMIM:120240.0019;DATES_ORDERED=2009-12-01 -21 47551933 . C T . . START=47551933;STOP=47551933;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=29642;RCV=RCV000022490;SCV=SCV000043779;ALLELE_ID=38597;SYMBOL=COL6A2;HGVS_C=NM_001849.3:c.2527C>T;HGVS_P=NP_001840.3:p.Arg843Trp;MOLECULAR_CONSEQUENCE=NM_001849.3:c.2527C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_13..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=BETHLEM_MYOPATHY_1..AUTOSOMAL_RECESSIVE|BETHLEM_MYOPATHY_1..AUTOSOMAL_RECESSIVE;ALL_PMIDS=18852439|19949035;ORIGIN=germline;XREFS=OMIM:120240.0011|OMIM:120240.0017|OMIM:120240.0018|OMIM:120240.0019;DATES_ORDERED=2009-12-01 +21 47551933 . C T . . START=47551933;STOP=47551933;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=29642;RCV=RCV000022490;SCV=SCV000043779;ALLELE_ID=38597;SYMBOL=COL6A2;HGVS_C=NM_001849.3:c.2527C>T;HGVS_P=NP_001840.3:p.Arg843Trp;MOLECULAR_CONSEQUENCE=NM_001849.3:c.2527C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_13..2016;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=BETHLEM_MYOPATHY_1..AUTOSOMAL_RECESSIVE|BETHLEM_MYOPATHY_1..AUTOSOMAL_RECESSIVE;ALL_PMIDS=18852439|19949035;ORIGIN=germline;XREFS=OMIM:120240.0011|OMIM:120240.0017|OMIM:120240.0018|OMIM:120240.0019;DATES_ORDERED=2009-12-01 22 24109650 . C G . . START=24109650;STOP=24109650;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=180222|204293;RCV=RCV000157071|RCV000192234;SCV=SCV000206796|SCV000239873;ALLELE_ID=178410;SYMBOL=CHCHD10;HGVS_C=NM_213720.2:c.172G>C;HGVS_P=NP_998885.1:p.Gly58Arg;MOLECULAR_CONSEQUENCE=NM_213720.2:c.172G>C:missense_variant|NR_125755.1:n.217G>C:non-coding_transcript_variant|NR_125756.1:n.139+371G>C:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_14..2015;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Myopathy..isolated_mitochondrial..autosomal_dominant|MYOPATHY..ISOLATED_MITOCHONDRIAL..AUTOSOMAL_DOMINANT_(1_family);ALL_PMIDS=25193783|26131548|9324076|2519378;ORIGIN=germline;XREFS=GeneReviews:NBK304142|MedGen:C4015513|OMIM:616209|Orphanet:457050;DATES_ORDERED=2015-01-01|2015-04-14 22 24109779 . G C . . START=24109779;STOP=24109779;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=204293;RCV=RCV000192234;SCV=SCV000239873;ALLELE_ID=200690;SYMBOL=CHCHD10;HGVS_C=NM_213720.2:c.43C>G;HGVS_P=NP_998885.1:p.Arg15Gly;MOLECULAR_CONSEQUENCE=NM_213720.2:c.43C>G:missense_variant|NR_125755.1:n.140-52C>G:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_14..2015;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Myopathy..isolated_mitochondrial..autosomal_dominant|Myopathy..isolated_mitochondrial..autosomal_dominant;ALL_PMIDS=2519378|26131548;ORIGIN=germline;XREFS=GeneReviews:NBK304142|MedGen:C4015513|OMIM:616209|Orphanet:457050;DATES_ORDERED=2015-04-14 22 24109779 . G T . . START=24109779;STOP=24109779;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=180222;RCV=RCV000157071;SCV=SCV000206796;ALLELE_ID=178409;SYMBOL=CHCHD10;HGVS_C=NM_213720.2:c.43C>A;HGVS_P=NP_998885.1:p.Arg15Ser;MOLECULAR_CONSEQUENCE=NM_213720.2:c.43C>A:missense_variant|NR_125755.1:n.140-52C>A:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_02..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Myopathy..isolated_mitochondrial..autosomal_dominant|MYOPATHY..ISOLATED_MITOCHONDRIAL..AUTOSOMAL_DOMINANT_(1_family);ALL_PMIDS=25193783|26131548|9324076;ORIGIN=germline;XREFS=GeneReviews:NBK304142|MedGen:C4015513|OMIM:616209|Orphanet:457050;DATES_ORDERED=2015-01-01 22 25625439 . C A . . START=25625439;STOP=25625439;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217348;RCV=RCV000203383;SCV=SCV000256031;ALLELE_ID=214001;SYMBOL=CRYBB2;HGVS_C=NM_000496.2:c.343C>A;HGVS_P=NP_000487.1:p.Pro115Thr;MOLECULAR_CONSEQUENCE=NM_000496.2:c.343C>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_09..2015;ALL_SUBMITTERS=Eye_Genetics_Research_Group..Children's_Medical_Research_Institute;SUBMITTERS_ORDERED=Eye_Genetics_Research_Group..Children's_Medical_Research_Institute;ALL_TRAITS=Congenital_cataract;ALL_PMIDS=26694549;ORIGIN=de_novo;XREFS=Human_Phenotype_Ontology:HP:0000519|Human_Phenotype_Ontology:HP:0001108|Human_Phenotype_Ontology:HP:0007679|Human_Phenotype_Ontology:HP:0007726|Human_Phenotype_Ontology:HP:0007788|MedGen:C1842324;DATES_ORDERED=2015-01-09 -22 25625451 . G A . . START=25625451;STOP=25625451;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217348;RCV=RCV000203383;SCV=SCV000256031;ALLELE_ID=214002;SYMBOL=CRYBB2;HGVS_C=NM_000496.2:c.355G>A;HGVS_P=NP_000487.1:p.Gly119Arg;MOLECULAR_CONSEQUENCE=NM_000496.2:c.355G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_09..2015;ALL_SUBMITTERS=Eye_Genetics_Research_Group..Children's_Medical_Research_Institute;SUBMITTERS_ORDERED=Eye_Genetics_Research_Group..Children's_Medical_Research_Institute;ALL_TRAITS=Congenital_cataract;ALL_PMIDS=26694549;ORIGIN=de_novo;XREFS=Human_Phenotype_Ontology:HP:0000519|Human_Phenotype_Ontology:HP:0001108|Human_Phenotype_Ontology:HP:0007679|Human_Phenotype_Ontology:HP:0007726|Human_Phenotype_Ontology:HP:0007788|MedGen:C1842324;DATES_ORDERED=2015-01-09 -22 36661906 . A G . . START=36661906;STOP=36661906;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=6080;RCV=RCV000006453;SCV=SCV000026636;ALLELE_ID=21119;SYMBOL=APOL1;HGVS_C=NM_145343.2:c.1072A>G;HGVS_P=NP_663318.1:p.Ser358Gly;MOLECULAR_CONSEQUENCE=NM_145343.2:c.1072A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_09..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Focal_segmental_glomerulosclerosis_4..susceptibility_to|FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS_4..SUSCEPTIBILITY_TO;ALL_PMIDS=20647424|24206458;ORIGIN=germline;XREFS=Genetic_Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438|MedGen:C2675525|OMIM:612551|Orphanet:84271;DATES_ORDERED=2010-10-25 -22 36662034 . T G . . START=36662034;STOP=36662034;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=6080;RCV=RCV000006453;SCV=SCV000026636;ALLELE_ID=76004;SYMBOL=APOL1;HGVS_C=NM_145343.2:c.1200T>G;HGVS_P=NP_663318.1:p.Ile400Met;MOLECULAR_CONSEQUENCE=NM_145343.2:c.1200T>G:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_09..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Focal_segmental_glomerulosclerosis_4..susceptibility_to|FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS_4..SUSCEPTIBILITY_TO;ALL_PMIDS=20647424|24206458;ORIGIN=germline;XREFS=Genetic_Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438|MedGen:C2675525|OMIM:612551|Orphanet:84271;DATES_ORDERED=2010-10-25 +22 25625451 . G A . . START=25625451;STOP=25625451;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=217348;RCV=RCV000203383;SCV=SCV000256031;ALLELE_ID=214002;SYMBOL=CRYBB2;HGVS_C=NM_000496.2:c.355G>A;HGVS_P=NP_000487.1:p.Gly119Arg;MOLECULAR_CONSEQUENCE=NM_000496.2:c.355G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_10..2017;ALL_SUBMITTERS=Eye_Genetics_Research_Group..Children's_Medical_Research_Institute;SUBMITTERS_ORDERED=Eye_Genetics_Research_Group..Children's_Medical_Research_Institute;ALL_TRAITS=Congenital_cataract;ALL_PMIDS=26694549;ORIGIN=de_novo;XREFS=Human_Phenotype_Ontology:HP:0000519|Human_Phenotype_Ontology:HP:0001108|Human_Phenotype_Ontology:HP:0007679|Human_Phenotype_Ontology:HP:0007726|Human_Phenotype_Ontology:HP:0007788|MedGen:C1842324;DATES_ORDERED=2015-01-09 +22 36661906 . A G . . START=36661906;STOP=36661906;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=6080;RCV=RCV000006453;SCV=SCV000026636;ALLELE_ID=21119;SYMBOL=APOL1;HGVS_C=NM_145343.2:c.1072A>G;HGVS_P=NP_663318.1:p.Ser358Gly;MOLECULAR_CONSEQUENCE=NM_145343.2:c.1072A>G:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_09..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Focal_segmental_glomerulosclerosis_4..susceptibility_to|FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS_4..SUSCEPTIBILITY_TO;ALL_PMIDS=20647424|24206458;ORIGIN=germline;XREFS=Genetic_Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438|MedGen:C2675525|OMIM:612551|Orphanet:84271;DATES_ORDERED=2010-08-13 +22 36662034 . T G . . START=36662034;STOP=36662034;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=6080;RCV=RCV000006453;SCV=SCV000026636;ALLELE_ID=76004;SYMBOL=APOL1;HGVS_C=NM_145343.2:c.1200T>G;HGVS_P=NP_663318.1:p.Ile400Met;MOLECULAR_CONSEQUENCE=NM_145343.2:c.1200T>G:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_09..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Focal_segmental_glomerulosclerosis_4..susceptibility_to|FOCAL_SEGMENTAL_GLOMERULOSCLEROSIS_4..SUSCEPTIBILITY_TO;ALL_PMIDS=20647424|24206458;ORIGIN=germline;XREFS=Genetic_Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438|MedGen:C2675525|OMIM:612551|Orphanet:84271;DATES_ORDERED=2010-08-13 22 40757623 . G C . . START=40757623;STOP=40757623;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=208488;RCV=RCV000190501;SCV=SCV000245387;ALLELE_ID=205025;SYMBOL=ADSL;HGVS_C=NM_000026.3:c.994G>C;HGVS_P=NP_000017.1:p.Asp332His;MOLECULAR_CONSEQUENCE=NM_000026.3:c.994G>C:missense_variant|NR_134256.1:n.1053G>C:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_17..2014;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Adenylosuccinate_lyase_deficiency|Adenylosuccinate_lyase_deficiency;ALL_PMIDS=10090474|23519317;ORIGIN=germline;XREFS=Genetic_Alliance:Adenylosuccinase+Deficiency/230|MedGen:C0268126|OMIM:103050|Office_of_Rare_Diseases:550|Orphanet:46|SNOMED_CT:15285008;DATES_ORDERED=2014-02-17 -22 40760969 . G A . . START=40760969;STOP=40760969;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=208488;RCV=RCV000190501;SCV=SCV000245387;ALLELE_ID=17501;SYMBOL=ADSL;HGVS_C=NM_000026.3:c.1277G>A;HGVS_P=NP_000017.1:p.Arg426His;MOLECULAR_CONSEQUENCE=NM_000026.3:c.1277G>A:missense_variant|NM_001123378.1:c.1191+600G>A:intron_variant|NR_134256.1:n.1367G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_13..2017;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Adenylosuccinate_lyase_deficiency|Adenylosuccinate_lyase_deficiency;ALL_PMIDS=10090474|23519317;ORIGIN=germline;XREFS=Genetic_Alliance:Adenylosuccinase+Deficiency/230|MedGen:C0268126|OMIM:103050|Office_of_Rare_Diseases:550|Orphanet:46|SNOMED_CT:15285008;DATES_ORDERED=2014-02-17 +22 40760969 . G A . . START=40760969;STOP=40760969;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=208488;RCV=RCV000190501;SCV=SCV000245387;ALLELE_ID=17501;SYMBOL=ADSL;HGVS_C=NM_000026.3:c.1277G>A;HGVS_P=NP_000017.1:p.Arg426His;MOLECULAR_CONSEQUENCE=NM_000026.3:c.1277G>A:missense_variant|NM_001123378.1:c.1191+600G>A:intron_variant|NR_134256.1:n.1367G>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Sep_12..2017;ALL_SUBMITTERS=Mendelics_Analise_Genomica;SUBMITTERS_ORDERED=Mendelics_Analise_Genomica;ALL_TRAITS=Adenylosuccinate_lyase_deficiency|Adenylosuccinate_lyase_deficiency;ALL_PMIDS=10090474|23519317;ORIGIN=germline;XREFS=Genetic_Alliance:Adenylosuccinase+Deficiency/230|MedGen:C0268126|OMIM:103050|Office_of_Rare_Diseases:550|Orphanet:46|SNOMED_CT:15285008;DATES_ORDERED=2014-02-17 X 13768812 . TCTCAAACACTTGGG T . . START=13768818;STOP=13768831;VARIATION_TYPE=Haplotype;VARIATION_ID=11542;RCV=RCV000012298;SCV=SCV000032532;ALLELE_ID=76962;HGVS_C=NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA;MOLECULAR_CONSEQUENCE=NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA:intron_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2004;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Oral-facial-digital_syndrome|OROFACIODIGITAL_SYNDROME_I;ALL_PMIDS=15221448|20301367;ORIGIN=germline;XREFS=GeneReviews:NBK1188|Genetic_Alliance:Orofaciodigital+syndromes/5428|MedGen:C1510460|OMIM:311200|Office_of_Rare_Diseases:4121|Orphanet:2750|SNOMED_CT:52868006;DATES_ORDERED=2004-07-01 X 22112123 . T C . . START=22112123;STOP=22112123;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=10818;RCV=RCV000011565;SCV=SCV000031797;ALLELE_ID=25857;SYMBOL=PHEX;HGVS_C=NM_000444.5:c.755T>C;HGVS_P=NP_000435.3:p.Phe252Ser;MOLECULAR_CONSEQUENCE=NM_000444.5:c.755T>C:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets|HYPOPHOSPHATEMIC_RICKETS..X-LINKED_DOMINANT;ALL_PMIDS=22319799|7550339|9106524;ORIGIN=germline;XREFS=GeneReviews:NBK83985|Genetic_Alliance:Familial+Hypophosphatemic+Rickets/2752|MedGen:C0733682|OMIM:307800|Office_of_Rare_Diseases:6735|Orphanet:89936|SNOMED_CT:82236004;DATES_ORDERED=1997-04-01 X 22112127 . G A . . START=22112127;STOP=22112127;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=10818;RCV=RCV000011565;SCV=SCV000031797;ALLELE_ID=38453;SYMBOL=PHEX;HGVS_C=NM_000444.5:c.759G>A;HGVS_P=NP_000435.3:p.Met253Ile;MOLECULAR_CONSEQUENCE=NM_000444.5:c.759G>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_01..1997;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Familial_X-linked_hypophosphatemic_vitamin_D_refractory_rickets|HYPOPHOSPHATEMIC_RICKETS..X-LINKED_DOMINANT;ALL_PMIDS=22319799|7550339|9106524;ORIGIN=germline;XREFS=GeneReviews:NBK83985|Genetic_Alliance:Familial+Hypophosphatemic+Rickets/2752|MedGen:C0733682|OMIM:307800|Office_of_Rare_Diseases:6735|Orphanet:89936|SNOMED_CT:82236004;DATES_ORDERED=1997-04-01 -X 100658834 . G A . . START=100658834;STOP=100658834;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10723;RCV=RCV000011470;SCV=SCV000031702;ALLELE_ID=38452;SYMBOL=GLA;HGVS_C=NM_000169.2:c.334C>T;HGVS_P=NP_000160.1:p.Arg112Cys;MOLECULAR_CONSEQUENCE=NM_000169.2:c.334C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_09..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Fabry_disease|FABRY_DISEASE;ALL_PMIDS=12735292|1315715|16980809|20301469|20505683|20610207|21934708|23788249|23860966|25173338|25355838|25356965|27854360;DISEASE_MECHANISM=Fabry_disease_is_due_to_inactivating_mutations_in_the_X-linked_GLA_gene_resulting_in_deficiency_of_the_enzyme_Alpha_Galactosidase-A.|loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1292|Genetic_Alliance:Fabry+Disease/2690|Genetic_Testing_Registry_(GTR):GTR000246735|Genetic_Testing_Registry_(GTR):GTR000260631|Genetic_Testing_Registry_(GTR):GTR000325415|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000337467|Genetic_Testing_Registry_(GTR):GTR000500007|Genetic_Testing_Registry_(GTR):GTR000503671|Genetic_Testing_Registry_(GTR):GTR000505068|Genetic_Testing_Registry_(GTR):GTR000507480|Genetic_Testing_Registry_(GTR):GTR000507942|Genetic_Testing_Registry_(GTR):GTR000512526|Genetic_Testing_Registry_(GTR):GTR000514924|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519384|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520414|Genetic_Testing_Registry_(GTR):GTR000520447|Genetic_Testing_Registry_(GTR):GTR000522329|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528276|Genetic_Testing_Registry_(GTR):GTR000528288|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528516|Genetic_Testing_Registry_(GTR):GTR000528528|Genetic_Testing_Registry_(GTR):GTR000528536|Genetic_Testing_Registry_(GTR):GTR000551442|Genetic_Testing_Registry_(GTR):GTR000552214|Genetic_Testing_Registry_(GTR):GTR000556501|Genetic_Testing_Registry_(GTR):GTR000556520|Genetic_Testing_Registry_(GTR):GTR000556725|Genetics_Home_Reference:fabry-disease|MedGen:C0002986|OMIM:301500|Office_of_Rare_Diseases:6400|Orphanet:324|SNOMED_CT:16652001;DATES_ORDERED=2010-08-01 -X 100658972 . C G . . START=100658972;STOP=100658972;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10723;RCV=RCV000011470;SCV=SCV000031702;ALLELE_ID=25762;SYMBOL=GLA;HGVS_C=NM_000169.2:c.196G>C;HGVS_P=NP_000160.1:p.Glu66Gln;MOLECULAR_CONSEQUENCE=NM_000169.2:c.196G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_24..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Fabry_disease|FABRY_DISEASE;ALL_PMIDS=12735292|1315715|16980809|20301469|20505683|20610207|21934708|23788249|23860966|25173338|25355838|25356965|27854360;DISEASE_MECHANISM=Fabry_disease_is_due_to_inactivating_mutations_in_the_X-linked_GLA_gene_resulting_in_deficiency_of_the_enzyme_Alpha_Galactosidase-A.|loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1292|Genetic_Alliance:Fabry+Disease/2690|Genetic_Testing_Registry_(GTR):GTR000246735|Genetic_Testing_Registry_(GTR):GTR000260631|Genetic_Testing_Registry_(GTR):GTR000325415|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000337467|Genetic_Testing_Registry_(GTR):GTR000500007|Genetic_Testing_Registry_(GTR):GTR000503671|Genetic_Testing_Registry_(GTR):GTR000505068|Genetic_Testing_Registry_(GTR):GTR000507480|Genetic_Testing_Registry_(GTR):GTR000507942|Genetic_Testing_Registry_(GTR):GTR000512526|Genetic_Testing_Registry_(GTR):GTR000514924|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519384|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520414|Genetic_Testing_Registry_(GTR):GTR000520447|Genetic_Testing_Registry_(GTR):GTR000522329|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528276|Genetic_Testing_Registry_(GTR):GTR000528288|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528516|Genetic_Testing_Registry_(GTR):GTR000528528|Genetic_Testing_Registry_(GTR):GTR000528536|Genetic_Testing_Registry_(GTR):GTR000551442|Genetic_Testing_Registry_(GTR):GTR000552214|Genetic_Testing_Registry_(GTR):GTR000556501|Genetic_Testing_Registry_(GTR):GTR000556520|Genetic_Testing_Registry_(GTR):GTR000556725|Genetics_Home_Reference:fabry-disease|MedGen:C0002986|OMIM:301500|Office_of_Rare_Diseases:6400|Orphanet:324|SNOMED_CT:16652001;DATES_ORDERED=2010-08-01 +X 100658834 . G A . . START=100658834;STOP=100658834;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10723;RCV=RCV000011470;SCV=SCV000031702;ALLELE_ID=38452;SYMBOL=GLA;HGVS_C=NM_000169.2:c.334C>T;HGVS_P=NP_000160.1:p.Arg112Cys;MOLECULAR_CONSEQUENCE=NM_000169.2:c.334C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Mar_09..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Fabry_disease|FABRY_DISEASE;ALL_PMIDS=12735292|1315715|16980809|20301469|20505683|20610207|21934708|23788249|23860966|25173338|25355838|25356965|27854360;DISEASE_MECHANISM=Fabry_disease_is_due_to_inactivating_mutations_in_the_X-linked_GLA_gene_resulting_in_deficiency_of_the_enzyme_Alpha_Galactosidase-A.|loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1292|Genetic_Alliance:Fabry+Disease/2690|Genetic_Testing_Registry_(GTR):GTR000246735|Genetic_Testing_Registry_(GTR):GTR000260631|Genetic_Testing_Registry_(GTR):GTR000325415|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000337467|Genetic_Testing_Registry_(GTR):GTR000500007|Genetic_Testing_Registry_(GTR):GTR000503671|Genetic_Testing_Registry_(GTR):GTR000505068|Genetic_Testing_Registry_(GTR):GTR000507480|Genetic_Testing_Registry_(GTR):GTR000507942|Genetic_Testing_Registry_(GTR):GTR000512526|Genetic_Testing_Registry_(GTR):GTR000514924|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519384|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520414|Genetic_Testing_Registry_(GTR):GTR000520447|Genetic_Testing_Registry_(GTR):GTR000522329|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528276|Genetic_Testing_Registry_(GTR):GTR000528288|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528516|Genetic_Testing_Registry_(GTR):GTR000528528|Genetic_Testing_Registry_(GTR):GTR000528536|Genetic_Testing_Registry_(GTR):GTR000551442|Genetic_Testing_Registry_(GTR):GTR000552214|Genetic_Testing_Registry_(GTR):GTR000556501|Genetic_Testing_Registry_(GTR):GTR000556520|Genetic_Testing_Registry_(GTR):GTR000556725|Genetic_Testing_Registry_(GTR):GTR000558532|Genetics_Home_Reference:fabry-disease|MedGen:C0002986|OMIM:301500|Office_of_Rare_Diseases:6400|Orphanet:324|SNOMED_CT:16652001;DATES_ORDERED=2010-08-01 +X 100658972 . C G . . START=100658972;STOP=100658972;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10723;RCV=RCV000011470;SCV=SCV000031702;ALLELE_ID=25762;SYMBOL=GLA;HGVS_C=NM_000169.2:c.196G>C;HGVS_P=NP_000160.1:p.Glu66Gln;MOLECULAR_CONSEQUENCE=NM_000169.2:c.196G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_24..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Fabry_disease|FABRY_DISEASE;ALL_PMIDS=12735292|1315715|16980809|20301469|20505683|20610207|21934708|23788249|23860966|25173338|25355838|25356965|27854360;DISEASE_MECHANISM=Fabry_disease_is_due_to_inactivating_mutations_in_the_X-linked_GLA_gene_resulting_in_deficiency_of_the_enzyme_Alpha_Galactosidase-A.|loss_of_function;ORIGIN=germline;XREFS=GeneReviews:NBK1292|Genetic_Alliance:Fabry+Disease/2690|Genetic_Testing_Registry_(GTR):GTR000246735|Genetic_Testing_Registry_(GTR):GTR000260631|Genetic_Testing_Registry_(GTR):GTR000325415|Genetic_Testing_Registry_(GTR):GTR000327665|Genetic_Testing_Registry_(GTR):GTR000337467|Genetic_Testing_Registry_(GTR):GTR000500007|Genetic_Testing_Registry_(GTR):GTR000503671|Genetic_Testing_Registry_(GTR):GTR000505068|Genetic_Testing_Registry_(GTR):GTR000507480|Genetic_Testing_Registry_(GTR):GTR000507942|Genetic_Testing_Registry_(GTR):GTR000512526|Genetic_Testing_Registry_(GTR):GTR000514924|Genetic_Testing_Registry_(GTR):GTR000519366|Genetic_Testing_Registry_(GTR):GTR000519384|Genetic_Testing_Registry_(GTR):GTR000520061|Genetic_Testing_Registry_(GTR):GTR000520062|Genetic_Testing_Registry_(GTR):GTR000520063|Genetic_Testing_Registry_(GTR):GTR000520414|Genetic_Testing_Registry_(GTR):GTR000520447|Genetic_Testing_Registry_(GTR):GTR000522329|Genetic_Testing_Registry_(GTR):GTR000522527|Genetic_Testing_Registry_(GTR):GTR000528276|Genetic_Testing_Registry_(GTR):GTR000528288|Genetic_Testing_Registry_(GTR):GTR000528500|Genetic_Testing_Registry_(GTR):GTR000528516|Genetic_Testing_Registry_(GTR):GTR000528528|Genetic_Testing_Registry_(GTR):GTR000528536|Genetic_Testing_Registry_(GTR):GTR000551442|Genetic_Testing_Registry_(GTR):GTR000552214|Genetic_Testing_Registry_(GTR):GTR000556501|Genetic_Testing_Registry_(GTR):GTR000556520|Genetic_Testing_Registry_(GTR):GTR000556725|Genetic_Testing_Registry_(GTR):GTR000558532|Genetics_Home_Reference:fabry-disease|MedGen:C0002986|OMIM:301500|Office_of_Rare_Diseases:6400|Orphanet:324|SNOMED_CT:16652001;DATES_ORDERED=2010-08-01 X 107823943 . G T . . START=107823943;STOP=107823943;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=10464;RCV=RCV000011210;SCV=SCV000031437;ALLELE_ID=35671;SYMBOL=COL4A5;HGVS_C=NM_033380.2:c.866G>T;HGVS_P=NP_203699.1:p.Gly289Val;MOLECULAR_CONSEQUENCE=NM_000495.4:c.866G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Dec_04..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Alport_syndrome..X-linked_recessive|ALPORT_SYNDROME..X-LINKED;ALL_PMIDS=20301386|22166944|7706490|9195222;ORIGIN=germline;XREFS=GeneReviews:NBK1207|Genetic_Alliance:Alport+Syndrome/335|MedGen:C1567742|OMIM:301050|Orphanet:63|Orphanet:88917;DATES_ORDERED=1995-04-01 X 107929326 . C T . . START=107929326;STOP=107929326;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=10464;RCV=RCV000011210;SCV=SCV000031437;ALLELE_ID=38451;SYMBOL=COL4A5;HGVS_C=NM_033380.2:c.4282C>T;HGVS_P=NP_203699.1:p.Arg1428Cys;MOLECULAR_CONSEQUENCE=NM_000495.4:c.4264C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_01..1995;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Alport_syndrome..X-linked_recessive|ALPORT_SYNDROME..X-LINKED;ALL_PMIDS=20301386|22166944|7706490|9195222;ORIGIN=germline;XREFS=GeneReviews:NBK1207|Genetic_Alliance:Alport+Syndrome/335|MedGen:C1567742|OMIM:301050|Orphanet:63|Orphanet:88917;DATES_ORDERED=1995-04-01 X 135738552 . T A . . START=135738552;STOP=135738552;STRAND=+;VARIATION_TYPE=Haplotype;VARIATION_ID=11158;RCV=RCV000011908;SCV=SCV000032141;ALLELE_ID=26197;SYMBOL=CD40LG;HGVS_C=NM_000074.2:c.384T>A;HGVS_P=NP_000065.1:p.Ser128Arg;MOLECULAR_CONSEQUENCE=NM_000074.2:c.384T>A:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_29..1993;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Immunodeficiency_with_hyper_IgM_type_1|IMMUNODEFICIENCY_WITH_HYPER-IgM..TYPE_1;ALL_PMIDS=20301576|7678782;ORIGIN=germline;XREFS=GeneReviews:NBK1402|Genetic_Alliance:Immunodeficiency+with+hyper+IgM+type+1/3776|MedGen:C0398689|OMIM:308230|Office_of_Rare_Diseases:73;DATES_ORDERED=1993-01-29 @@ -599,9 +666,9 @@ X 148564464 . C G . . START=148564464;STOP=148564464;STRAND=-;VARIATION_TYPE=Hap X 148564466 . C A . . START=148564466;STOP=148564466;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10502;RCV=RCV000011248;SCV=SCV000031475;ALLELE_ID=38394;SYMBOL=IDS;HGVS_C=NM_000202.7:c.1464G>T;HGVS_P=NP_000193.1:p.Met488Ile;MOLECULAR_CONSEQUENCE=NM_000202.7:c.1464G>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2003;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Mucopolysaccharidosis..MPS-II|MUCOPOLYSACCHARIDOSIS..TYPE_II;ALL_PMIDS=12794697|20301451|21863056|25071396;ORIGIN=germline;XREFS=GeneReviews:NBK1274|Genetic_Alliance:Mucopolysaccharidosis+type+II/4913|MedGen:C0026705|OMIM:309900|Orphanet:580|SNOMED_CT:70737009;DATES_ORDERED=2003-07-01 X 148564527 . C T . . START=148564527;STOP=148564527;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=221203;RCV=RCV000204179;SCV=SCV000262516;ALLELE_ID=25537;SYMBOL=IDS;HGVS_C=NM_000202.7:c.1403G>A;HGVS_P=NP_000193.1:p.Arg468Gln;MOLECULAR_CONSEQUENCE=NM_000202.7:c.1403G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_25..2013;ALL_SUBMITTERS=LISIN_Facultad_de_Ciencias_Exactas..Universidad_Nacional_de_La_Plata;SUBMITTERS_ORDERED=LISIN_Facultad_de_Ciencias_Exactas..Universidad_Nacional_de_La_Plata;ALL_TRAITS=Mucopolysaccharidosis..MPS-II;ALL_PMIDS=18414213|20301451|21863056|25071396;ORIGIN=maternal;XREFS=GeneReviews:NBK1274|Genetic_Alliance:Mucopolysaccharidosis+type+II/4913|MedGen:C0026705|OMIM:309900|Orphanet:580|SNOMED_CT:70737009;DATES_ORDERED=2007-05-16 X 148564536 . T A . . START=148564536;STOP=148564536;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=221203;RCV=RCV000204179;SCV=SCV000262516;ALLELE_ID=222899;SYMBOL=IDS;HGVS_C=NM_000202.7:c.1394A>T;HGVS_P=NP_000193.1:p.Gln465Leu;MOLECULAR_CONSEQUENCE=NM_000202.7:c.1394A>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_16..2007;ALL_SUBMITTERS=LISIN_Facultad_de_Ciencias_Exactas..Universidad_Nacional_de_La_Plata;SUBMITTERS_ORDERED=LISIN_Facultad_de_Ciencias_Exactas..Universidad_Nacional_de_La_Plata;ALL_TRAITS=Mucopolysaccharidosis..MPS-II;ALL_PMIDS=18414213|20301451|21863056|25071396;ORIGIN=maternal;XREFS=GeneReviews:NBK1274|Genetic_Alliance:Mucopolysaccharidosis+type+II/4913|MedGen:C0026705|OMIM:309900|Orphanet:580|SNOMED_CT:70737009;DATES_ORDERED=2007-05-16 -X 153762605 . G A . . START=153762605;STOP=153762605;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10392;RCV=RCV000011127;SCV=SCV000031354;ALLELE_ID=25430;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.682C>T;HGVS_P=NP_000393.4:p.Arg228Cys;MOLECULAR_CONSEQUENCE=NM_001042351.2:c.592C>T:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Apr_18..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Chronic_granuloma_and_hemolytic_anemia|CHRONIC_GRANULOMA_AND_HEMOLYTIC_ANEMIA;ALL_PMIDS=1353664|4125296;ORIGIN=germline;XREFS=MedGen:C4016535;DATES_ORDERED=1992-08-01 +X 153762605 . G A . . START=153762605;STOP=153762605;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10392;RCV=RCV000011127;SCV=SCV000031354;ALLELE_ID=25430;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.682C>T;HGVS_P=NP_000393.4:p.Arg228Cys;MOLECULAR_CONSEQUENCE=NM_001042351.2:c.592C>T:missense_variant;CLINICAL_SIGNIFICANCE=other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_24..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Chronic_granuloma_and_hemolytic_anemia|CHRONIC_GRANULOMA_AND_HEMOLYTIC_ANEMIA;ALL_PMIDS=1353664|4125296;ORIGIN=germline;XREFS=MedGen:C4016535;DATES_ORDERED=1992-08-01 X 153762653 . G A . . START=153762653;STOP=153762653;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10392;RCV=RCV000011127;SCV=SCV000031354;ALLELE_ID=38393;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.634C>T;HGVS_P=NP_000393.4:p.Arg212Trp;MOLECULAR_CONSEQUENCE=NM_001042351.2:c.544C>T:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..1992;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Chronic_granuloma_and_hemolytic_anemia|CHRONIC_GRANULOMA_AND_HEMOLYTIC_ANEMIA;ALL_PMIDS=1353664|4125296;ORIGIN=germline;XREFS=MedGen:C4016535;DATES_ORDERED=1992-08-01 -X 153762655 . T A . . START=153762655;STOP=153762655;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10382;RCV=RCV000011109;SCV=SCV000031336;ALLELE_ID=25421;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.632A>T;HGVS_P=NP_000393.4:p.Asp211Val;MOLECULAR_CONSEQUENCE=NM_000402.4:c.632A>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_24..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=G6PD_SANTAMARIA|G6PD_SANTAMARIA;ALL_PMIDS=1978554|1999409|6433630|8956035;ORIGIN=germline;XREFS=OMIM:305900.0023;DATES_ORDERED=2017-05-24 -X 153763492 . T C . . START=153763492;STOP=153763492;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10361|10382;RCV=RCV000011075|RCV000011076|RCV000011077|RCV000011078|RCV000011079|RCV000011109;SCV=SCV000031301|SCV000031303|SCV000031304|SCV000031305|SCV000031306|SCV000031336;ALLELE_ID=25399;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.466A>G;HGVS_P=NP_000393.4:p.Asn156Asp;MOLECULAR_CONSEQUENCE=NM_001042351.2:c.376A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|other;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_14..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Glucose_6_phosphate_dehydrogenase_deficiency|G6PD_A-|G6PD_BETICA|G6PD_CASTILLA|G6PD_DISTRITO_FEDERAL|G6PD_TEPIC|G6PD_SANTAMARIA;ALL_PMIDS=10734064|1303173|1978554|2253938|2503817|2572288|2836867|2912886|3393536|4388132|5448|5492291|669721|7106752|7291768|903703|1999409|6433630|8956035;ORIGIN=germline;XREFS=Genetic_Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096|Genetics_Home_Reference:glucose-6-phosphate-dehydrogenase-deficiency|MedGen:C0017758|Office_of_Rare_Diseases:6520|OMIM:305900.0002|OMIM:305900.0023;DATES_ORDERED=2000-03-31|2017-05-24 +X 153762655 . T A . . START=153762655;STOP=153762655;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10382;RCV=RCV000011109;SCV=SCV000031336;ALLELE_ID=25421;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.632A>T;HGVS_P=NP_000393.4:p.Asp211Val;MOLECULAR_CONSEQUENCE=NM_000402.4:c.632A>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic..other;CLINICAL_SIGNIFICANCE_ORDERED=other;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_24..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=G6PD_SANTAMARIA|G6PD_SANTAMARIA;ALL_PMIDS=1978554|1999409|6433630|8956035;ORIGIN=germline;XREFS=OMIM:305900.0023;DATES_ORDERED=2017-05-24 +X 153763492 . T C . . START=153763492;STOP=153763492;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10361|10382;RCV=RCV000011075|RCV000011109;SCV=SCV000031301|SCV000031336;ALLELE_ID=25399;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.466A>G;HGVS_P=NP_000393.4:p.Asn156Asp;MOLECULAR_CONSEQUENCE=NM_001042351.2:c.376A>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity..other;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|other;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_18..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Glucose_6_phosphate_dehydrogenase_deficiency|G6PD_A-|G6PD_SANTAMARIA;ALL_PMIDS=10734064|1303173|1978554|2253938|2503817|2572288|2836867|2912886|3393536|4388132|5448|5492291|669721|7106752|7291768|903703|1999409|6433630|8956035;ORIGIN=germline;XREFS=Genetic_Alliance:G6pd+a-/8448|Genetic_Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096|Genetics_Home_Reference:glucose-6-phosphate-dehydrogenase-deficiency|MedGen:C0017758|OMIM:305900.0002|OMIM:305900.0027|OMIM:305900.0028|Office_of_Rare_Diseases:6520|OMIM:305900.0023;DATES_ORDERED=2000-03-31|2017-05-24 X 153763551 . G C . . START=153763551;STOP=153763551;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10392;RCV=RCV000011127;SCV=SCV000031354;ALLELE_ID=25431;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.407C>G;HGVS_P=NP_000393.4:p.Ser136Cys;MOLECULAR_CONSEQUENCE=NM_001042351.2:c.317C>G:missense_variant;CLINICAL_SIGNIFICANCE=-;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_for_the_individual_variant;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..1992;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Chronic_granuloma_and_hemolytic_anemia|CHRONIC_GRANULOMA_AND_HEMOLYTIC_ANEMIA;ALL_PMIDS=1353664|4125296;ORIGIN=germline;XREFS=MedGen:C4016535;DATES_ORDERED=1992-08-01 -X 153764217 . C T . . START=153764217;STOP=153764217;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10361;RCV=RCV000011075|RCV000011076|RCV000011077|RCV000011078|RCV000011079;SCV=SCV000031301|SCV000031303|SCV000031304|SCV000031305|SCV000031306;ALLELE_ID=25400;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.292G>A;HGVS_P=NP_000393.4:p.Val98Met;MOLECULAR_CONSEQUENCE=NM_001042351.2:c.202G>A:missense_variant;CLINICAL_SIGNIFICANCE=drug_response;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|other;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=reviewed_by_expert_panel;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=May_24..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Glucose_6_phosphate_dehydrogenase_deficiency|G6PD_A-|G6PD_BETICA|G6PD_CASTILLA|G6PD_DISTRITO_FEDERAL|G6PD_TEPIC;ALL_PMIDS=10734064|1303173|1978554|2253938|2503817|2572288|2836867|2912886|3393536|4388132|5448|5492291|669721|7106752|7291768|903703;ORIGIN=germline;XREFS=Genetic_Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096|Genetics_Home_Reference:glucose-6-phosphate-dehydrogenase-deficiency|MedGen:C0017758|Office_of_Rare_Diseases:6520|OMIM:305900.0002;DATES_ORDERED=2000-03-31|2017-05-24 +X 153764217 . C T . . START=153764217;STOP=153764217;STRAND=-;VARIATION_TYPE=Haplotype;VARIATION_ID=10361;RCV=RCV000011075;SCV=SCV000031301;ALLELE_ID=25400;SYMBOL=G6PD;HGVS_C=NM_000402.4:c.292G>A;HGVS_P=NP_000393.4:p.Val98Met;MOLECULAR_CONSEQUENCE=NM_001042351.2:c.202G>A:missense_variant;CLINICAL_SIGNIFICANCE=drug_response;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=reviewed_by_expert_panel;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_18..2017;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Glucose_6_phosphate_dehydrogenase_deficiency|G6PD_A-;ALL_PMIDS=10734064|1303173|1978554|2253938|2503817|2572288|2836867|2912886|3393536|4388132|5448|5492291|669721|7106752|7291768|903703;ORIGIN=germline;XREFS=Genetic_Alliance:G6pd+a-/8448|Genetic_Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096|Genetics_Home_Reference:glucose-6-phosphate-dehydrogenase-deficiency|MedGen:C0017758|OMIM:305900.0002|OMIM:305900.0027|OMIM:305900.0028|Office_of_Rare_Diseases:6520;DATES_ORDERED=2000-03-31 diff --git a/output/b37/multi/clinvar_alleles_stats.multi.b37.txt b/output/b37/multi/clinvar_alleles_stats.multi.b37.txt index 38c914e..0d5f563 100644 --- a/output/b37/multi/clinvar_alleles_stats.multi.b37.txt +++ b/output/b37/multi/clinvar_alleles_stats.multi.b37.txt @@ -1,105 +1,110 @@ Columns: 1: chrom, 2: pos, 3: ref, 4: alt, 5: start, 6: stop, 7: strand, 8: variation_type, 9: variation_id, 10: rcv, 11: scv, 12: allele_id, 13: symbol, 14: hgvs_c, 15: hgvs_p, 16: molecular_consequence, 17: clinical_significance, 18: clinical_significance_ordered, 19: pathogenic, 20: likely_pathogenic, 21: uncertain_significance, 22: likely_benign, 23: benign, 24: review_status, 25: review_status_ordered, 26: last_evaluated, 27: all_submitters, 28: submitters_ordered, 29: all_traits, 30: all_pmids, 31: inheritance_modes, 32: age_of_onset, 33: prevalence, 34: disease_mechanism, 35: origin, 36: xrefs, 37: dates_ordered, 38: gold_stars, 39: conflicted, ================ -Total rows: 481 +Total rows: 548 ================ column 8: variation_type -Haplotype 464 +Haplotype 529 Phase unknown 11 +Distinct chromosomes 4 CompoundHeterozygote 4 -Distinct chromosomes 2 Name: variation_type, dtype: int64 ================ column 17: clinical_significance -- 262 -Pathogenic 67 -Conflicting interpretations of pathogenicity 32 -Uncertain significance 24 -Benign 16 -Pathogenic/Likely pathogenic 13 +- 293 +Pathogenic 71 +Conflicting interpretations of pathogenicity 39 +Uncertain significance 32 +Benign 19 +Pathogenic/Likely pathogenic 18 +Benign/Likely benign 13 other 12 -Benign/Likely benign 9 not provided 8 +Likely benign 7 Likely pathogenic 6 Conflicting interpretations of pathogenicity, other 6 -Likely benign 6 -Pathogenic, other 4 -drug response 3 -drug response, other 2 +Pathogenic, other 5 +drug response 4 Likely benign, other 2 +drug response, other 2 Pathogenic, other, protective 2 +Pathogenic, risk factor 1 +risk factor 1 Benign/Likely benign, risk factor 1 Pathogenic, protective 1 Uncertain significance, other 1 Conflicting interpretations of pathogenicity, risk factor 1 +Benign, Affects 1 Benign/Likely benign, other 1 -Pathogenic, risk factor 1 Benign, other 1 Name: clinical_significance, dtype: int64 ================ column 24: review_status -no assertion for the individual variant 357 -criteria provided, multiple submitters, no conflicts 36 -no assertion criteria provided 33 -criteria provided, single submitter 27 -criteria provided, conflicting interpretations 19 +no assertion for the individual variant 404 +criteria provided, multiple submitters, no conflicts 45 +criteria provided, single submitter 33 +no assertion criteria provided 31 +criteria provided, conflicting interpretations 27 no assertion provided 4 -reviewed by expert panel 4 +reviewed by expert panel 3 practice guideline 1 Name: review_status, dtype: int64 ================ column 38: gold_stars -0 394 -1 46 -2 36 -3 4 +0 439 +1 60 +2 45 +3 3 4 1 Name: gold_stars, dtype: int64 ================ column 27: all_submitters -OMIM 256 -GeneReviews 29 -Mendelics Analise Genomica 20 -ARUP Institute,ARUP Laboratories 17 -Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 16 -University of Washington Center for Mendelian Genomics, University of Washington 13 -Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 12 -Colsan 9 -Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 7 -Medical Research Institute,Tokyo Medical and Dental University 7 -U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 6 -Clinical Biochemistry Laboratory,Health Services Laboratory 6 -Section of Medical Genetics, Telemark Hospital 6 -Division of Host Defense,Kyushu University 6 -Tuberous sclerosis database (TSC2) 5 -OMIM;GeneReviews 5 -HerediLab, Inc. 5 -Rizzo Lab,University of Nebraska Medical Center 4 -Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 -Center for Genetic Medicine Research,Children's National Medical Center 3 -OMIM;ARUP Institute,ARUP Laboratories 3 -OMIM;Baylor Miraca Genetics Laboratories 2 -Eye Genetics Research Group,Children's Medical Research Institute 2 -Bone Marrow Failure laboratory,Queen Mary University London 2 -RettBASE 2 -Neurogenetics Research, Murdoch Childrens Research Institute 2 -LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 2 -OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 2 -Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 2 -Institute of Human Genetics, Klinikum rechts der Isar 2 -Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 -Collagen Diagnostic Laboratory 2 -Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 2 -Human Genetics Disease in Children – Taif University,Taif University 2 -Laboratory of Molecular Genetics,CHU RENNES 2 -OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 2 -Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 -OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 -Institute of Human Genetics, Klinikum rechts der Isar;OMIM 2 -Laboratory of Molecular Genetics,National Institutes of Health 2 -LDLR-LOVD, British Heart Foundation 1 -GeneReviews;OMIM 1 -Medical Genomics Laboratory,Department of Genetics UAB 1 -CFTR2 1 +OMIM 314 +GeneReviews 28 +Mendelics Analise Genomica 20 +ARUP Institute,ARUP Laboratories 17 +Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 16 +University of Washington Center for Mendelian Genomics, University of Washington 13 +Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 12 +Colsan 9 +Medical Research Institute,Tokyo Medical and Dental University 7 +OMIM;GeneReviews 7 +Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 7 +Division of Host Defense,Kyushu University 6 +U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 6 +Section of Medical Genetics, Telemark Hospital 6 +Clinical Biochemistry Laboratory,Health Services Laboratory 6 +Tuberous sclerosis database (TSC2) 5 +HerediLab, Inc. 5 +Rizzo Lab,University of Nebraska Medical Center 4 +Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 +Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 4 +Center for Genetic Medicine Research,Children's National Medical Center 3 +OMIM;ARUP Institute,ARUP Laboratories 3 +Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;OMIM 2 +Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 2 +Eye Genetics Research Group,Children's Medical Research Institute 2 +Bone Marrow Failure laboratory,Queen Mary University London 2 +OMIM;Baylor Miraca Genetics Laboratories 2 +RettBASE 2 +Institute of Human Genetics, Klinikum rechts der Isar 2 +LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 2 +Neurogenetics Research, Murdoch Childrens Research Institute 2 +Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 +Computational Biology Unit,University of Bari 2 +Counsyl 2 +Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 +Collagen Diagnostic Laboratory 2 +Human Genetics Disease in Children – Taif University,Taif University 2 +OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 2 +OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 +Institute of Human Genetics, Klinikum rechts der Isar;OMIM 2 +Laboratory of Molecular Genetics,National Institutes of Health 2 +Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 2 +Laboratory of Molecular Genetics,CHU RENNES 2 +CFTR2 1 +GeneReviews;OMIM 1 +LDLR-LOVD, British Heart Foundation 1 +Medical Genomics Laboratory,Department of Genetics UAB 1 Name: all_submitters, dtype: int64 ================ column 31: inheritance_modes @@ -112,20 +117,23 @@ column 33: prevalence Series([], Name: prevalence, dtype: int64) ================ column 34: disease_mechanism -loss of function 36 +loss of function 35 +More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function 5 +gain of function 4 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function 2 Name: disease_mechanism, dtype: int64 ================ column 35: origin -germline 391 +germline 450 not provided 29 -inherited 17 -unknown 17 +unknown 21 +inherited 19 somatic 6 de novo 6 germline;not provided 5 tested-inconclusive 4 germline;maternal;paternal 2 +not applicable;paternal 2 not applicable 2 maternal 2 Name: origin, dtype: int64 diff --git a/output/b37/single/clinvar_allele_trait_pairs.single.b37.tsv.gz b/output/b37/single/clinvar_allele_trait_pairs.single.b37.tsv.gz index 824262a..5982166 100644 Binary files a/output/b37/single/clinvar_allele_trait_pairs.single.b37.tsv.gz and b/output/b37/single/clinvar_allele_trait_pairs.single.b37.tsv.gz differ diff --git a/output/b37/single/clinvar_allele_trait_pairs.single.b37.tsv.gz.tbi b/output/b37/single/clinvar_allele_trait_pairs.single.b37.tsv.gz.tbi index 6d26d46..2f46864 100644 Binary files a/output/b37/single/clinvar_allele_trait_pairs.single.b37.tsv.gz.tbi and b/output/b37/single/clinvar_allele_trait_pairs.single.b37.tsv.gz.tbi differ diff --git a/output/b37/single/clinvar_allele_trait_pairs_example_750_rows.single.b37.tsv b/output/b37/single/clinvar_allele_trait_pairs_example_750_rows.single.b37.tsv index f3e4283..ee79b88 100644 --- a/output/b37/single/clinvar_allele_trait_pairs_example_750_rows.single.b37.tsv +++ b/output/b37/single/clinvar_allele_trait_pairs_example_750_rows.single.b37.tsv @@ -1,166 +1,313 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_id symbol hgvs_c hgvs_p molecular_consequence clinical_significance clinical_significance_ordered pathogenic likely_pathogenic uncertain_significance likely_benign benign review_status review_status_ordered last_evaluated all_submitters submitters_ordered all_traits all_pmids inheritance_modes age_of_onset prevalence disease_mechanism origin xrefs dates_ordered +1 949422 G A 949422 949422 + Variant 475283 RCV000537631 SCV000655463 446939 ISG15 NM_005101.3:c.62G>A NP_005092.1:p.Ser21Asn NM_005101.3:c.62G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-26 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-05-26 1 949523 C T 949523 949523 + Variant 183381 RCV000162196 SCV000212156 181485 ISG15 NM_005101.3:c.163C>T NP_005092.1:p.Gln55Ter NM_005101.3:c.163C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-01 OMIM OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 25307056 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2015-01-01 +1 949597 C T 949597 949597 + Variant 475278 RCV000544298 SCV000655458 446987 ISG15 NM_005101.3:c.237C>T NP_005092.1:p.Asp79= NM_005101.3:c.237C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-15 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-06-15 1 949608 G A 949608 949608 + Variant 402986 RCV000455759 SCV000539397 389314 ISG15 NM_005101.3:c.248G>A NP_005092.1:p.Ser83Asn NM_005101.3:c.248G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-03-29 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified 24033266 germline MedGen:CN169374 2016-03-29 1 949696 C CG 949699 949699 + Variant 161455 RCV000148989 SCV000196037 171289 ISG15 NM_005101.3:c.339dupG NP_005092.1:p.Leu114Alafs NM_005101.3:c.339dupG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-01 OMIM OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 1;22859821;25307056 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2015-01-01 1 949739 G T 949739 949739 + Variant 161454 RCV000148988 SCV000196036 171288 ISG15 NM_005101.3:c.379G>T NP_005092.1:p.Glu127Ter NM_005101.3:c.379G>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-01 OMIM OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 22859821;25307056 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2015-01-01 +1 949831 C T 949831 949831 + Variant 475281 RCV000543212 SCV000655461 446936 ISG15 NM_005101.3:c.471C>T NP_005092.1:p.Gly157= NM_005101.3:c.471C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-13 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-06-13 +1 949851 G C 949851 949851 + Variant 475282 RCV000559328 SCV000655462 446981 ISG15 NM_005101.3:c.491G>C NP_005092.1:p.Arg164Pro NM_005101.3:c.491G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-08-04 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-08-04 +1 955557 C A 955557 955557 + Variant 474165 RCV000550388 SCV000653986 446941 AGRN NM_198576.3:c.5C>A NP_940978.2:p.Ala2Asp NM_198576.3:c.5C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-22 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-22 1 955563 G C 955563 955563 + Variant 387476 RCV000424799 SCV000529531 364282 AGRN NM_198576.3:c.11G>C NP_940978.2:p.Arg4Pro NM_198576.3:c.11G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-15 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 -1 955596 C G 955596 955596 + Variant 377270 RCV000422793 SCV000511620 364148 AGRN NM_198576.3:c.44C>G NP_940978.2:p.Pro15Arg NM_198576.3:c.44C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-03 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-02-03-06:00 +1 955563 G C 955563 955563 + Variant 387476 RCV000535257 SCV000653873 364282 AGRN NM_198576.3:c.11G>C NP_940978.2:p.Arg4Pro NM_198576.3:c.11G>C:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-28 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-28 +1 955596 C G 955596 955596 + Variant 377270 RCV000422793 SCV000511620 364148 AGRN NM_198576.3:c.44C>G NP_940978.2:p.Pro15Arg NM_198576.3:c.44C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-03 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-02-03 1 955597 G T 955597 955597 + Variant 128310 RCV000116272 SCV000150190;SCV000519170;SCV000317056 133759 AGRN NM_198576.3:c.45G>T NP_940978.2:p.Pro15= NM_198576.3:c.45G>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-02-04 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 2014-08-29;0000-00-00;2016-02-04 1 955601 C T 955601 955601 + Variant 388958 RCV000437701 SCV000531361 364285 AGRN NM_198576.3:c.49C>T NP_940978.2:p.Leu17Phe NM_198576.3:c.49C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-09-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-07 1 955619 G C 955619 955619 + Variant 210112 RCV000193277 SCV000317081;SCV000246342 206690 AGRN NM_198576.3:c.67G>C NP_940978.2:p.Val23Leu NM_198576.3:c.67G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2014-09-29 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-09-29;0000-00-00 +1 955619 G C 955619 955619 + Variant 210112 RCV000527875 SCV000653990 206690 AGRN NM_198576.3:c.67G>C NP_940978.2:p.Val23Leu NM_198576.3:c.67G>C:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 1 957568 A G 957568 957568 + Variant 263166 RCV000250556 SCV000317015 249265 AGRN NM_198576.3:c.202-13A>G NM_198576.3:c.202-13A>G:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 957605 G A 957605 957605 + Variant 243036 RCV000235037 SCV000292405 244110 AGRN NM_198576.3:c.226G>A NP_940978.2:p.Gly76Ser NM_198576.3:c.226G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347;24951643 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 1 957640 C T 957640 957640 + Variant 128296 RCV000116258 SCV000317028;SCV000150176 133745 AGRN NM_198576.3:c.261C>T NP_940978.2:p.Asp87= NM_198576.3:c.261C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 957640 C T 957640 957640 + Variant 128296 RCV000550396 SCV000653894 133745 AGRN NM_198576.3:c.261C>T NP_940978.2:p.Asp87= NM_198576.3:c.261C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 1 957693 A T 957693 957693 + Variant 243037 RCV000235021 SCV000292406 244111 AGRN NM_198576.3:c.314A>T NP_940978.2:p.Asn105Ile NM_198576.3:c.314A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347;24951643 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 +1 970687 C T 970687 970687 + Variant 474141 RCV000555748 SCV000653952 446942 AGRN NM_198576.3:c.494C>T NP_940978.2:p.Pro165Leu NM_198576.3:c.494C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-10-26 1 976059 C T 976059 976059 + Variant 210111 RCV000195231 SCV000246341;SCV000317068 206691 AGRN NM_198576.3:c.526C>T NP_940978.2:p.Leu176= NM_198576.3:c.526C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2014-10-28 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-10-28;0000-00-00 +1 976112 G A 976112 976112 + Variant 474159 RCV000536149 SCV000653979 447009 AGRN NM_198576.3:c.579G>A NP_940978.2:p.Ala193= NM_198576.3:c.579G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-03-24 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-24 +1 976124 CAAG C 976129 976131 + Variant 474163 RCV000550064 SCV000653983 446960 AGRN NM_198576.3:c.596_598delAGA NP_940978.2:p.Lys199del Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-17 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-02-17 1 976554 C G 976554 976554 + Variant 263202 RCV000241878 SCV000317082 249305 AGRN NM_198576.3:c.729C>G NP_940978.2:p.Gly243= NM_198576.3:c.729C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 976554 C G 976554 976554 + Variant 263202 RCV000540327 SCV000653991 249305 AGRN NM_198576.3:c.729C>G NP_940978.2:p.Gly243= NM_198576.3:c.729C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 1 976563 C T 976563 976563 + Variant 263203 RCV000246662 SCV000317083 249306 AGRN NM_198576.3:c.738C>T NP_940978.2:p.Asp246= NM_198576.3:c.738C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 976563 C T 976563 976563 + Variant 263203 RCV000551940 SCV000653992 249306 AGRN NM_198576.3:c.738C>T NP_940978.2:p.Asp246= NM_198576.3:c.738C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-08-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-02 1 976577 T C 976577 976577 + Variant 430121 RCV000492793 SCV000582847 421151 AGRN NM_198576.3:c.752T>C NP_940978.2:p.Val251Ala NM_198576.3:c.752T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-22 1 976598 C T 976598 976598 + Variant 263204 RCV000249809 SCV000317084;SCV000593067 249307 AGRN NM_198576.3:c.773C>T NP_940978.2:p.Thr258Ile NM_198576.3:c.773C>T:missense variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2015-11-11 PreventionGenetics;Genetic Services Laboratory, University of Chicago PreventionGenetics;Genetic Services Laboratory, University of Chicago not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2015-11-11 -1 976629 C T 976629 976629 + Variant 128320 RCV000116282 SCV000150200;SCV000526741 133769 AGRN NM_198576.3:c.804C>T NP_940978.2:p.Ala268= NM_198576.3:c.804C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-20 GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;GeneDx not specified;AllHighlyPenetrant;not specified 18414213 germline MedGen:CN169374 2013-08-15;2016-09-20 +1 976598 C T 976598 976598 + Variant 263204 RCV000532513 SCV000653993 249307 AGRN NM_198576.3:c.773C>T NP_940978.2:p.Thr258Ile NM_198576.3:c.773C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 +1 976629 C T 976629 976629 + Variant 128320 RCV000116282 SCV000150200;SCV000612304;SCV000526741 133769 AGRN NM_198576.3:c.804C>T NP_940978.2:p.Ala268= NM_198576.3:c.804C>T:synonymous variant Conflicting interpretations of pathogenicity benign;benign;likely benign 0 0 0 1 2 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-09-20 Athena Diagnostics Inc;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;GeneDx;Athena Diagnostics Inc not specified;AllHighlyPenetrant;not specified;not specified 18414213;26467025 germline MedGen:CN169374 2013-08-15;2016-09-20;2016-06-16 +1 976629 C T 976629 976629 + Variant 128320 RCV000545263 SCV000653994 133769 AGRN NM_198576.3:c.804C>T NP_940978.2:p.Ala268= NM_198576.3:c.804C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-04 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-04 +1 976654 C T 976654 976654 + Variant 474169 RCV000553169 SCV000653995 446994 AGRN NM_198576.3:c.829C>T NP_940978.2:p.Arg277Cys NM_198576.3:c.829C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-18 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-18 +1 976959 C G 976959 976959 + Variant 474095 RCV000533556 SCV000653867 446995 AGRN NM_198576.3:c.1054C>G NP_940978.2:p.Arg352Gly NM_198576.3:c.1054C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-23 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-23 1 976962 C T 976962 976962 + Variant 126556 RCV000114428 SCV000148370 132069 AGRN NM_198576.3:c.1057C>T NP_940978.2:p.Gln353Ter NM_198576.3:c.1057C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-07-01 OMIM OMIM Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8 20301347;22205389 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2012-07-01 1 976962 C T 976962 976962 + Variant 126556 RCV000235030 SCV000292407 132069 AGRN NM_198576.3:c.1057C>T NP_940978.2:p.Gln353Ter NM_198576.3:c.1057C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 1 976963 A G 976963 976963 + Variant 128291 RCV000116253 SCV000150171;SCV000529532 133740 AGRN NM_198576.3:c.1058A>G NP_940978.2:p.Gln353Arg NM_198576.3:c.1058A>G:missense variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 2016-11-10 GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;GeneDx not specified;AllHighlyPenetrant;not specified germline MedGen:CN169374 0000-00-00;2016-11-10 +1 976963 A G 976963 976963 + Variant 128291 RCV000545898 SCV000653868 133740 AGRN NM_198576.3:c.1058A>G NP_940978.2:p.Gln353Arg NM_198576.3:c.1058A>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-08 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-08 1 977028 G T 977028 977028 + Variant 263158 RCV000243499 SCV000334297;SCV000317005;SCV000593068 249308 AGRN NM_198576.3:c.1123G>T NP_940978.2:p.Ala375Ser NM_198576.3:c.1123G>T:missense variant Likely benign likely benign;likely benign;likely benign 0 0 0 3 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2017-02-02 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Genetic Services Laboratory, University of Chicago PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Genetic Services Laboratory, University of Chicago not specified;NOT SPECIFIED;not specified;not specified 25741868 germline MedGen:CN169374 0000-00-00;2015-09-14;2017-02-02 -1 977028 G T 977028 977028 + Variant 263158 RCV000430046 SCV000511758 249308 AGRN NM_198576.3:c.1123G>T NP_940978.2:p.Ala375Ser NM_198576.3:c.1123G>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-30 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-12-30-06:00 +1 977028 G T 977028 977028 + Variant 263158 RCV000430046 SCV000511758 249308 AGRN NM_198576.3:c.1123G>T NP_940978.2:p.Ala375Ser NM_198576.3:c.1123G>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-30 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2016-12-30 +1 977028 G T 977028 977028 + Variant 263158 RCV000557729 SCV000653869 249308 AGRN NM_198576.3:c.1123G>T NP_940978.2:p.Ala375Ser NM_198576.3:c.1123G>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-08 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-08 +1 977035 G A 977035 977035 + Variant 474096 RCV000533895 SCV000653870 447000 AGRN NM_198576.3:c.1130G>A NP_940978.2:p.Arg377Gln NM_198576.3:c.1130G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-05 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 +1 977050 A G 977050 977050 + Variant 474097 RCV000546257 SCV000653871 447003 AGRN NM_198576.3:c.1145A>G NP_940978.2:p.Gln382Arg NM_198576.3:c.1145A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-24 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-24 1 977330 T C 977330 977330 + Variant 128292 RCV000116254 SCV000150172;SCV000519171;SCV000317006 133741 AGRN NM_198576.3:c.1178-6T>C NM_198576.3:c.1178-6T>C:intron variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 +1 977356 C T 977356 977356 + Variant 474098 RCV000558783 SCV000653872 447005 AGRN NM_198576.3:c.1198C>T NP_940978.2:p.Arg400Trp NM_198576.3:c.1198C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-11 1 977516 T TC 977520 977520 + Variant 243038 RCV000235036 SCV000292408 244112 AGRN NM_198576.3:c.1362dupC NP_940978.2:p.Ser455GlnfsTer8 NM_198576.3:c.1362dupC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 1 977570 G A 977570 977570 + Variant 263159 RCV000251375 SCV000317007 249309 AGRN NM_198576.3:c.1384+28G>A NM_198576.3:c.1384+28G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 978603 CCT C 978604 978605 + Variant 263160 RCV000244801 SCV000317008 249310 AGRN NM_198576.3:c.1385-15_1385-14delCT NM_198576.3:c.1385-15_1385-14delCT:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-01-27 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2016-01-27 1 978628 C T 978628 978628 + Variant 263161 RCV000249555 SCV000317009 249311 AGRN NM_198576.3:c.1394C>T NP_940978.2:p.Pro465Leu NM_198576.3:c.1394C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 978629 G A 978629 978629 + Variant 474099 RCV000547860 SCV000653874 447016 AGRN NM_198576.3:c.1395G>A NP_940978.2:p.Pro465= NM_198576.3:c.1395G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-01 +1 978635 A G 978635 978635 + Variant 474100 RCV000528299 SCV000653875 446944 AGRN NM_198576.3:c.1401A>G NP_940978.2:p.Pro467= NM_198576.3:c.1401A>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-06 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-06 1 978668 G A 978668 978668 + Variant 263162 RCV000254334 SCV000317010 249312 AGRN NM_198576.3:c.1434G>A NP_940978.2:p.Thr478= NM_198576.3:c.1434G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 -1 978762 G A 978762 978762 + Variant 263163 RCV000244472 SCV000519329;SCV000317011 249313 AGRN NM_198576.3:c.1528G>A NP_940978.2:p.Gly510Ser NM_198576.3:c.1528G>A:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-24 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-10-24 +1 978668 G A 978668 978668 + Variant 263162 RCV000536310 SCV000653876 249312 AGRN NM_198576.3:c.1434G>A NP_940978.2:p.Thr478= NM_198576.3:c.1434G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-04 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-04 +1 978762 G A 978762 978762 + Variant 263163 RCV000244472 SCV000612295;SCV000519329;SCV000317011 249313 AGRN NM_198576.3:c.1528G>A NP_940978.2:p.Gly510Ser NM_198576.3:c.1528G>A:missense variant Conflicting interpretations of pathogenicity benign;benign;likely benign 0 0 0 1 2 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-10-24 PreventionGenetics;GeneDx;Athena Diagnostics Inc PreventionGenetics;GeneDx;Athena Diagnostics Inc not specified;NOT SPECIFIED;not specified;not specified 25741868;26467025 germline MedGen:CN169374 0000-00-00;2016-10-24;2016-09-15 +1 978762 G A 978762 978762 + Variant 263163 RCV000548068 SCV000653877 249313 AGRN NM_198576.3:c.1528G>A NP_940978.2:p.Gly510Ser NM_198576.3:c.1528G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 +1 978773 C T 978773 978773 + Variant 474101 RCV000528770 SCV000653878 447008 AGRN NM_198576.3:c.1539C>T NP_940978.2:p.Cys513= NM_198576.3:c.1539C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-28 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-28 +1 978804 C T 978804 978804 + Variant 446814 RCV000516394 SCV000612296 440337 AGRN NM_198576.3:c.1570C>T NP_940978.2:p.Arg524Trp NM_198576.3:c.1570C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-12 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2016-10-12 1 978856 G A 978856 978856 + Variant 263164 RCV000249242 SCV000317012 249314 AGRN NM_198576.3:c.1603+19G>A NM_198576.3:c.1603+19G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 978974 G A 978974 978974 + Variant 263165 RCV000254010 SCV000317013 249315 AGRN NM_198576.3:c.1660G>A NP_940978.2:p.Val554Met NM_198576.3:c.1660G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 978974 G A 978974 978974 + Variant 263165 RCV000514542 SCV000609853 249315 AGRN NM_198576.3:c.1660G>A NP_940978.2:p.Val554Met NM_198576.3:c.1660G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-02-23 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-02-23 +1 978974 G A 978974 978974 + Variant 263165 RCV000541064 SCV000653879 249315 AGRN NM_198576.3:c.1660G>A NP_940978.2:p.Val554Met NM_198576.3:c.1660G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-26 +1 979035 A T 979035 979035 + Variant 474102 RCV000553694 SCV000653880 447013 AGRN NM_198576.3:c.1721A>T NP_940978.2:p.Tyr574Phe NM_198576.3:c.1721A>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-06 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-01-06 1 979310 G A 979310 979310 + Variant 390111 RCV000443642 SCV000532853 364314 AGRN NM_198576.3:c.1906G>A NP_940978.2:p.Gly636Ser NM_198576.3:c.1906G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-20 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-20 -1 979397 G A 979397 979397 + Variant 210106 RCV000192681 SCV000317014;SCV000246336 206692 AGRN NM_198576.3:c.1993G>A NP_940978.2:p.Glu665Lys NM_198576.3:c.1993G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2014-04-30 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 18414213;25741868 germline MedGen:CN169374 2014-04-30;0000-00-00 +1 979397 G A 979397 979397 + Variant 210106 RCV000192681 SCV000317014;SCV000246336 206692 AGRN NM_198576.3:c.1993G>A NP_940978.2:p.Glu665Lys NM_198576.3:c.1993G>A:missense variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2017-02-13 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2017-02-13;0000-00-00 +1 979397 G A 979397 979397 + Variant 210106 RCV000525581 SCV000653881 206692 AGRN NM_198576.3:c.1993G>A NP_940978.2:p.Glu665Lys NM_198576.3:c.1993G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-01 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-01 1 979514 C G 979514 979514 + Variant 128293 RCV000116255 SCV000317016;SCV000150173 133742 AGRN NM_198576.3:c.2025C>G NP_940978.2:p.Gly675= NM_198576.3:c.2025C>G:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 979514 C G 979514 979514 + Variant 128293 RCV000542722 SCV000653882 133742 AGRN NM_198576.3:c.2025C>G NP_940978.2:p.Gly675= NM_198576.3:c.2025C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-02 1 979556 G A 979556 979556 + Variant 263167 RCV000245482 SCV000317017 249316 AGRN NM_198576.3:c.2067G>A NP_940978.2:p.Gln689= NM_198576.3:c.2067G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 979556 G A 979556 979556 + Variant 263167 RCV000555033 SCV000653883 249316 AGRN NM_198576.3:c.2067G>A NP_940978.2:p.Gln689= NM_198576.3:c.2067G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-19 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-19 +1 979559 C T 979559 979559 + Variant 474103 RCV000531210 SCV000653884 447019 AGRN NM_198576.3:c.2070C>T NP_940978.2:p.Arg690= NM_198576.3:c.2070C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-26 1 979748 A T 979748 979748 + Variant 128294 RCV000116256 SCV000519187;SCV000317018;SCV000150174 133743 AGRN NM_198576.3:c.2183A>T NP_940978.2:p.Glu728Val NM_198576.3:c.2183A>T:missense variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-05-26 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-05-26 +1 979748 A T 979748 979748 + Variant 128294 RCV000542916 SCV000653885 133743 AGRN NM_198576.3:c.2183A>T NP_940978.2:p.Glu728Val NM_198576.3:c.2183A>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-28 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-28 1 979835 G A 979835 979835 + Variant 263168 RCV000242021 SCV000317019 249317 AGRN NM_198576.3:c.2254+16G>A NM_198576.3:c.2254+16G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 980552 G A 980552 980552 + Variant 263169 RCV000245180 SCV000317020 249318 AGRN NM_198576.3:c.2266G>A NP_940978.2:p.Ala756Thr NM_198576.3:c.2266G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 980552 G A 980552 980552 + Variant 263169 RCV000555482 SCV000653886 249318 AGRN NM_198576.3:c.2266G>A NP_940978.2:p.Ala756Thr NM_198576.3:c.2266G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-01 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-12-01 1 980557 G A 980557 980557 + Variant 263170 RCV000249944 SCV000317021 249319 AGRN NM_198576.3:c.2271G>A NP_940978.2:p.Pro757= NM_198576.3:c.2271G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 980669 A G 980669 980669 + Variant 387477 RCV000419115 SCV000529533 364327 AGRN NM_198576.3:c.2371+12A>G NM_198576.3:c.2371+12A>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-15 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 1 980773 C T 980773 980773 + Variant 128295 RCV000116257 SCV000317022;SCV000150175 133744 AGRN NM_198576.3:c.2406C>T NP_940978.2:p.Gly802= NM_198576.3:c.2406C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 980773 C T 980773 980773 + Variant 128295 RCV000531365 SCV000653887 133744 AGRN NM_198576.3:c.2406C>T NP_940978.2:p.Gly802= NM_198576.3:c.2406C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-02 +1 980791 C T 980791 980791 + Variant 474104 RCV000543993 SCV000653888 447014 AGRN NM_198576.3:c.2424C>T NP_940978.2:p.Ala808= NM_198576.3:c.2424C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-10-26 1 980824 G C 980824 980824 + Variant 190974 RCV000246474 SCV000317023;SCV000221340 188780 AGRN NM_198576.3:c.2457G>C NP_940978.2:p.Gly819= NM_198576.3:c.2457G>C:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-09-28 PreventionGenetics;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2016-09-28;0000-00-00 +1 980824 G C 980824 980824 + Variant 190974 RCV000556816 SCV000653889 188780 AGRN NM_198576.3:c.2457G>C NP_940978.2:p.Gly819= NM_198576.3:c.2457G>C:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 1 980840 C T 980840 980840 + Variant 210107 RCV000194095 SCV000246337 206693 AGRN NM_198576.3:c.2473C>T NP_940978.2:p.Arg825Cys NM_198576.3:c.2473C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-01-14 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-01-14 1 980866 T C 980866 980866 + Variant 389918 RCV000443602 SCV000532604 364329 AGRN NM_198576.3:c.2499T>C NP_940978.2:p.Phe833= NM_198576.3:c.2499T>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-12 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-12 -1 980868 G A 980868 980868 + Variant 387869 RCV000424274 SCV000530043 364336 AGRN NM_198576.3:c.2501G>A NP_940978.2:p.Arg834Gln NM_198576.3:c.2501G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-21 +1 980868 G A 980868 980868 + Variant 387869 RCV000424274 SCV000530043 364336 AGRN NM_198576.3:c.2501G>A NP_940978.2:p.Arg834Gln NM_198576.3:c.2501G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-09 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-09 +1 980868 G A 980868 980868 + Variant 387869 RCV000545330 SCV000653891 364336 AGRN NM_198576.3:c.2501G>A NP_940978.2:p.Arg834Gln NM_198576.3:c.2501G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-17 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-17 +1 980875 C T 980875 980875 + Variant 474105 RCV000533002 SCV000653890 446970 AGRN NM_198576.3:c.2508C>T NP_940978.2:p.Ile836= NM_198576.3:c.2508C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-25 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-25 +1 980881 C T 980881 980881 + Variant 474106 RCV000557874 SCV000653892 446945 AGRN NM_198576.3:c.2514C>T NP_940978.2:p.Thr838= NM_198576.3:c.2514C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-02 1 980948 C T 980948 980948 + Variant 263171 RCV000252843 SCV000317024 249320 AGRN NM_198576.3:c.2536+45C>T NM_198576.3:c.2536+45C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 981087 A G 981087 981087 + Variant 263172 RCV000243014 SCV000317025 249321 AGRN NM_198576.3:c.2537-26A>G NM_198576.3:c.2537-26A>G:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 981131 A G 981131 981131 + Variant 263173 RCV000247794 SCV000317026 249322 AGRN NM_198576.3:c.2555A>G NP_940978.2:p.Gln852Arg NM_198576.3:c.2555A>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 981131 A G 981131 981131 + Variant 263173 RCV000537771 SCV000653893 249322 AGRN NM_198576.3:c.2555A>G NP_940978.2:p.Gln852Arg NM_198576.3:c.2555A>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 1 981165 G A 981165 981165 + Variant 263174 RCV000252551 SCV000317027 249323 AGRN NM_198576.3:c.2589G>A NP_940978.2:p.Thr863= NM_198576.3:c.2589G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 981226 C T 981226 981226 + Variant 390809 RCV000425529 SCV000533733 364315 AGRN NM_198576.3:c.2650C>T NP_940978.2:p.Arg884Cys NM_198576.3:c.2650C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-18 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-18 +1 981227 G A 981227 981227 + Variant 474107 RCV000558118 SCV000653895 447023 AGRN NM_198576.3:c.2651G>A NP_940978.2:p.Arg884His NM_198576.3:c.2651G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-26 1 981328 C G 981328 981328 + Variant 263175 RCV000249068 SCV000317029 249324 AGRN NM_198576.3:c.2681-16C>G NM_198576.3:c.2681-16C>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 981345 C T 981345 981345 + Variant 263176 RCV000252248 SCV000317030 249325 AGRN NM_198576.3:c.2682C>T NP_940978.2:p.Asp894= NM_198576.3:c.2682C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 -1 981353 C T 981353 981353 + Variant 235570 RCV000224244 SCV000281252 237251 AGRN NM_198576.3:c.2690C>T NP_940978.2:p.Ala897Val NM_198576.3:c.2690C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-21 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2015-12-21-06:00 +1 981345 C T 981345 981345 + Variant 263176 RCV000534291 SCV000653896 249325 AGRN NM_198576.3:c.2682C>T NP_940978.2:p.Asp894= NM_198576.3:c.2682C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-25 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-25 +1 981353 C T 981353 981353 + Variant 235570 RCV000224244 SCV000281252 237251 AGRN NM_198576.3:c.2690C>T NP_940978.2:p.Ala897Val NM_198576.3:c.2690C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-21 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2015-12-21 +1 981353 C T 981353 981353 + Variant 235570 RCV000517312 SCV000612297 237251 AGRN NM_198576.3:c.2690C>T NP_940978.2:p.Ala897Val NM_198576.3:c.2690C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-24 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2017-03-24 +1 981353 C T 981353 981353 + Variant 235570 RCV000551727 SCV000653897 237251 AGRN NM_198576.3:c.2690C>T NP_940978.2:p.Ala897Val NM_198576.3:c.2690C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-28 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-28 +1 981376 C T 981376 981376 + Variant 474108 RCV000527891 SCV000653898 447015 AGRN NM_198576.3:c.2713C>T NP_940978.2:p.Arg905Cys NM_198576.3:c.2713C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-26 +1 981400 G A 981400 981400 + Variant 474109 RCV000540198 SCV000653899 447029 AGRN NM_198576.3:c.2737G>A NP_940978.2:p.Val913Met NM_198576.3:c.2737G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-08 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-08 1 981459 C T 981459 981459 + Variant 263177 RCV000244043 SCV000317031 249326 AGRN NM_198576.3:c.2796C>T NP_940978.2:p.Asn932= NM_198576.3:c.2796C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 981475 G A 981475 981475 + Variant 434107 RCV000500875 SCV000593069 427605 AGRN NM_198576.3:c.2805+7G>A NM_198576.3:c.2805+7G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-02 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-09-02 +1 981475 G A 981475 981475 + Variant 434107 RCV000548272 SCV000653900 427605 AGRN NM_198576.3:c.2805+7G>A NM_198576.3:c.2805+7G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-11-23 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-23 +1 981535 C T 981535 981535 + Variant 474110 RCV000528205 SCV000653901 447031 AGRN NM_198576.3:c.2806-5C>T NM_198576.3:c.2806-5C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-19 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-01-19 +1 981852 C A 981852 981852 + Variant 474111 RCV000540503 SCV000653902 447017 AGRN NM_198576.3:c.2987C>A NP_940978.2:p.Ala996Glu NM_198576.3:c.2987C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-31 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-31 1 981868 C T 981868 981868 + Variant 263178 RCV000248800 SCV000317032 249327 AGRN NM_198576.3:c.3003C>T NP_940978.2:p.Pro1001= NM_198576.3:c.3003C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 981904 C T 981904 981904 + Variant 474112 RCV000553127 SCV000653903 446946 AGRN NM_198576.3:c.3039C>T NP_940978.2:p.His1013= NM_198576.3:c.3039C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-04-28 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-28 +1 981911 A G 981911 981911 + Variant 474113 RCV000529551 SCV000653904 447026 AGRN NM_198576.3:c.3046A>G NP_940978.2:p.Thr1016Ala NM_198576.3:c.3046A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-06 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-06 1 981931 A G 981931 981931 + Variant 128297 RCV000116259 SCV000519172;SCV000317033;SCV000150177 133746 AGRN NM_198576.3:c.3066A>G NP_940978.2:p.Ser1022= NM_198576.3:c.3066A>G:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 1 981942 C A 981942 981942 + Variant 263179 RCV000245361 SCV000317034 249328 AGRN NM_198576.3:c.3077C>A NP_940978.2:p.Thr1026Asn NM_198576.3:c.3077C>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 981942 C A 981942 981942 + Variant 263179 RCV000514069 SCV000609941 249328 AGRN NM_198576.3:c.3077C>A NP_940978.2:p.Thr1026Asn NM_198576.3:c.3077C>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-02-23 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-02-23 +1 981942 C A 981942 981942 + Variant 263179 RCV000542147 SCV000653905 249328 AGRN NM_198576.3:c.3077C>A NP_940978.2:p.Thr1026Asn NM_198576.3:c.3077C>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-26 +1 982018 C T 982018 982018 + Variant 474114 RCV000554460 SCV000653906 447034 AGRN NM_198576.3:c.3153C>T NP_940978.2:p.Ser1051= NM_198576.3:c.3153C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-19 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-19 1 982204 C T 982204 982204 + Variant 387478 RCV000429389 SCV000529534 364294 AGRN NM_198576.3:c.3255C>T NP_940978.2:p.Leu1085= NM_198576.3:c.3255C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-15 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 -1 982213 G C 982213 982213 + Variant 128298 RCV000116260 SCV000150178;SCV000317035 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 -1 982213 G C 982213 982213 + Variant 128298 RCV000431747 SCV000511644 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-02 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-01-02-06:00 +1 982213 G C 982213 982213 + Variant 128298 RCV000116260 SCV000150178;SCV000612298;SCV000317035 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Conflicting interpretations of pathogenicity likely benign;benign;benign 0 0 0 1 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2016-11-07 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 19631309;25741868;26467025 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-11-07 +1 982213 G C 982213 982213 + Variant 128298 RCV000431747 SCV000511644 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-02 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-01-02 +1 982213 G C 982213 982213 + Variant 128298 RCV000530637 SCV000653907 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-02 +1 982225 C T 982225 982225 + Variant 474115 RCV000546931 SCV000653908 447043 AGRN NM_198576.3:c.3276C>T NP_940978.2:p.Ser1092= NM_198576.3:c.3276C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-03 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-03 1 982234 C G 982234 982234 + Variant 434108 RCV000502690 SCV000593070 427606 AGRN NM_198576.3:c.3285C>G NP_940978.2:p.Thr1095= NM_198576.3:c.3285C>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-04-11 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-04-11 +1 982302 C A 982302 982302 + Variant 474116 RCV000559489 SCV000653909 446971 AGRN NM_198576.3:c.3353C>A NP_940978.2:p.Thr1118Lys NM_198576.3:c.3353C>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-19 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-19 +1 982336 C T 982336 982336 + Variant 474117 RCV000530806 SCV000653910 446948 AGRN NM_198576.3:c.3387C>T NP_940978.2:p.Pro1129= NM_198576.3:c.3387C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-06 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-06 1 982356 G A 982356 982356 + Variant 263180 RCV000253262 SCV000317036 249329 AGRN NM_198576.3:c.3388+19G>A NM_198576.3:c.3388+19G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 982722 A G 982722 982722 + Variant 128299 RCV000116261 SCV000150179;SCV000317037 133748 AGRN NM_198576.3:c.3404A>G NP_940978.2:p.Gln1135Arg NM_198576.3:c.3404A>G:missense variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 -1 982783 T C 982783 982783 + Variant 128300 RCV000116262 SCV000317038;SCV000150180 133749 AGRN NM_198576.3:c.3465T>C NP_940978.2:p.Ala1155= NM_198576.3:c.3465T>C:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 982722 A G 982722 982722 + Variant 128299 RCV000543419 SCV000653911 133748 AGRN NM_198576.3:c.3404A>G NP_940978.2:p.Gln1135Arg NM_198576.3:c.3404A>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 +1 982774 C T 982774 982774 + Variant 474118 RCV000560784 SCV000653912 446952 AGRN NM_198576.3:c.3456C>T NP_940978.2:p.Pro1152= NM_198576.3:c.3456C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-17 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-17 +1 982783 T C 982783 982783 + Variant 128300 RCV000116262 SCV000317038;SCV000150180;SCV000612299 133749 AGRN NM_198576.3:c.3465T>C NP_940978.2:p.Ala1155= NM_198576.3:c.3465T>C:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign;benign 0 0 0 1 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2016-11-07 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868;26467025 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-11-07 +1 982783 T C 982783 982783 + Variant 128300 RCV000536981 SCV000653913 133749 AGRN NM_198576.3:c.3465T>C NP_940978.2:p.Ala1155= NM_198576.3:c.3465T>C:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-26 1 982844 G C 982844 982844 + Variant 128301 RCV000116263 SCV000519306;SCV000317039;SCV000150181;SCV000221341 133750 AGRN NM_198576.3:c.3516+10G>C NM_198576.3:c.3516+10G>C:intron variant Conflicting interpretations of pathogenicity likely benign;likely benign;benign;benign 0 0 0 2 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-09-28 GeneDx;PreventionGenetics;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-09-28;0000-00-00;2016-02-04 1 982941 T C 982941 982941 + Variant 263181 RCV000246305 SCV000519173;SCV000317040 249331 AGRN NM_198576.3:c.3517-12T>C NM_198576.3:c.3517-12T>C:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-01-19 +1 982979 C T 982979 982979 + Variant 474119 RCV000549332 SCV000653914 447038 AGRN NM_198576.3:c.3543C>T NP_940978.2:p.Asp1181= NM_198576.3:c.3543C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-13 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-13 1 982994 T C 982994 982994 + Variant 128302 RCV000116264 SCV000150182;SCV000317041;SCV000519174 133751 AGRN NM_198576.3:c.3558T>C NP_940978.2:p.Phe1186= NM_198576.3:c.3558T>C:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 1 983006 C T 983006 983006 + Variant 128303 RCV000116265 SCV000150183;SCV000317042 133752 AGRN NM_198576.3:c.3570C>T NP_940978.2:p.Arg1190= NM_198576.3:c.3570C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 983006 C T 983006 983006 + Variant 128303 RCV000557303 SCV000653915 133752 AGRN NM_198576.3:c.3570C>T NP_940978.2:p.Arg1190= NM_198576.3:c.3570C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-30 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-30 +1 983011 G A 983011 983011 + Variant 474121 RCV000549876 SCV000653917 447046 AGRN NM_198576.3:c.3575G>A NP_940978.2:p.Arg1192Gln NM_198576.3:c.3575G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-11 +1 983194 C T 983194 983194 + Variant 474122 RCV000525731 SCV000653918 447042 AGRN NM_198576.3:c.3670C>T NP_940978.2:p.Leu1224Phe NM_198576.3:c.3670C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-05 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 +1 983218 C A 983218 983218 + Variant 474123 RCV000538314 SCV000653919 447048 AGRN NM_198576.3:c.3694C>A NP_940978.2:p.Arg1232Ser NM_198576.3:c.3694C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-26 1 983221 C T 983221 983221 + Variant 390183 RCV000438400 SCV000532953 364341 AGRN NM_198576.3:c.3697C>T NP_940978.2:p.Arg1233Trp NM_198576.3:c.3697C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-27 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-27 +1 983221 C T 983221 983221 + Variant 390183 RCV000551217 SCV000653920 364341 AGRN NM_198576.3:c.3697C>T NP_940978.2:p.Arg1233Trp NM_198576.3:c.3697C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-26 +1 983222 G A 983222 983222 + Variant 474124 RCV000527356 SCV000653921 447054 AGRN NM_198576.3:c.3698G>A NP_940978.2:p.Arg1233Gln NM_198576.3:c.3698G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-26 1 983243 C T 983243 983243 + Variant 263182 RCV000247622 SCV000317043 249332 AGRN NM_198576.3:c.3719C>T NP_940978.2:p.Pro1240Leu NM_198576.3:c.3719C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 983243 C T 983243 983243 + Variant 263182 RCV000539671 SCV000653922 249332 AGRN NM_198576.3:c.3719C>T NP_940978.2:p.Pro1240Leu NM_198576.3:c.3719C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-11 1 983256 C T 983256 983256 + Variant 210108 RCV000195120 SCV000317044;SCV000246338 206694 AGRN NM_198576.3:c.3732C>T NP_940978.2:p.His1244= NM_198576.3:c.3732C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2014-08-06 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-08-06;0000-00-00 1 983386 C T 983386 983386 + Variant 210109 RCV000192787 SCV000246339 206695 AGRN NM_198576.3:c.3752-6C>T NM_198576.3:c.3752-6C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-06-12 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-06-12 +1 983413 C T 983413 983413 + Variant 474125 RCV000552295 SCV000653923 446955 AGRN NM_198576.3:c.3773C>T NP_940978.2:p.Thr1258Met NM_198576.3:c.3773C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-30 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-30 +1 983423 G A 983423 983423 + Variant 474126 RCV000532144 SCV000653924 446956 AGRN NM_198576.3:c.3783G>A NP_940978.2:p.Thr1261= NM_198576.3:c.3783G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-16 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-16 1 983459 C T 983459 983459 + Variant 390522 RCV000426153 SCV000533375 364331 AGRN NM_198576.3:c.3819C>T NP_940978.2:p.Ala1273= NM_198576.3:c.3819C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-10 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-10 1 983496 C A 983496 983496 + Variant 434109 RCV000504469 SCV000593071 427607 AGRN NM_198576.3:c.3856C>A NP_940978.2:p.Pro1286Thr NM_198576.3:c.3856C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-02 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2017-02-02 -1 983506 C T 983506 983506 + Variant 128304 RCV000116266 SCV000317045;SCV000150184 133753 AGRN NM_198576.3:c.3866C>T NP_940978.2:p.Pro1289Leu NM_198576.3:c.3866C>T:missense variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 983499 C T 983499 983499 + Variant 474127 RCV000540137 SCV000653925 447050 AGRN NM_198576.3:c.3859C>T NP_940978.2:p.Arg1287Trp NM_198576.3:c.3859C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-17 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-17 +1 983506 C T 983506 983506 + Variant 128304 RCV000116266 SCV000317045;SCV000612300;SCV000150184 133753 AGRN NM_198576.3:c.3866C>T NP_940978.2:p.Pro1289Leu NM_198576.3:c.3866C>T:missense variant Conflicting interpretations of pathogenicity likely benign;benign;likely benign 0 0 0 2 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2016-11-07 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868;26467025 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-11-07 +1 983506 C T 983506 983506 + Variant 128304 RCV000552486 SCV000653926 133753 AGRN NM_198576.3:c.3866C>T NP_940978.2:p.Pro1289Leu NM_198576.3:c.3866C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-26 +1 983507 G A 983507 983507 + Variant 474120 RCV000537189 SCV000653916 446973 AGRN NM_198576.3:c.3867G>A NP_940978.2:p.Pro1289= NM_198576.3:c.3867G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-17 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-17 +1 983566 G A 983566 983566 + Variant 474128 RCV000533178 SCV000653927 447069 AGRN NM_198576.3:c.3926G>A NP_940978.2:p.Arg1309Gln NM_198576.3:c.3926G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-03 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-03 1 983604 C T 983604 983604 + Variant 128305 RCV000116267 SCV000317046;SCV000150185 133754 AGRN NM_198576.3:c.3964C>T NP_940978.2:p.Arg1322Trp NM_198576.3:c.3964C>T:missense variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 983604 C T 983604 983604 + Variant 128305 RCV000546079 SCV000653928 133754 AGRN NM_198576.3:c.3964C>T NP_940978.2:p.Arg1322Trp NM_198576.3:c.3964C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-22 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 1 983612 G A 983612 983612 + Variant 128306 RCV000116268 SCV000317047;SCV000150186 133755 AGRN NM_198576.3:c.3972G>A NP_940978.2:p.Pro1324= NM_198576.3:c.3972G>A:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 983612 G A 983612 983612 + Variant 128306 RCV000554114 SCV000653929 133755 AGRN NM_198576.3:c.3972G>A NP_940978.2:p.Pro1324= NM_198576.3:c.3972G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-22 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 1 984257 C T 984257 984257 + Variant 210110 RCV000193826 SCV000246340 206696 AGRN NM_198576.3:c.4116C>T NP_940978.2:p.Ala1372= NM_198576.3:c.4116C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-05-04 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-05-04 1 984261 G T 984261 984261 + Variant 389927 RCV000438345 SCV000532615 364318 AGRN NM_198576.3:c.4120G>T NP_940978.2:p.Val1374Leu NM_198576.3:c.4120G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-13 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-13 1 984272 C T 984272 984272 + Variant 392687 RCV000445318 SCV000535996 364322 AGRN NM_198576.3:c.4131C>T NP_940978.2:p.Phe1377= NM_198576.3:c.4131C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-10 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-10 +1 984272 C T 984272 984272 + Variant 392687 RCV000529978 SCV000653930 364322 AGRN NM_198576.3:c.4131C>T NP_940978.2:p.Phe1377= NM_198576.3:c.4131C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-27 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-27 1 984302 T C 984302 984302 + Variant 128307 RCV000116269 SCV000519276;SCV000150187;SCV000317048 133756 AGRN NM_198576.3:c.4161T>C NP_940978.2:p.Thr1387= NM_198576.3:c.4161T>C:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 -1 984426 C T 984426 984426 + Variant 263183 RCV000248636 SCV000317049 249333 AGRN NM_198576.3:c.4285C>T NP_940978.2:p.Arg1429Cys NM_198576.3:c.4285C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 984324 C T 984324 984324 + Variant 474129 RCV000547145 SCV000653931 447070 AGRN NM_198576.3:c.4183C>T NP_940978.2:p.Arg1395Cys NM_198576.3:c.4183C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-14 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-02-14 +1 984413 G A 984413 984413 + Variant 474130 RCV000558841 SCV000653932 446962 AGRN NM_198576.3:c.4272G>A NP_940978.2:p.Ala1424= NM_198576.3:c.4272G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-11 +1 984426 C T 984426 984426 + Variant 263183 RCV000248636 SCV000317049;SCV000612301 249333 AGRN NM_198576.3:c.4285C>T NP_940978.2:p.Arg1429Cys NM_198576.3:c.4285C>T:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2017-07-25 PreventionGenetics;Athena Diagnostics Inc PreventionGenetics;Athena Diagnostics Inc not specified;NOT SPECIFIED;not specified 25741868;26467025 germline MedGen:CN169374 0000-00-00;2017-07-25 +1 984426 C T 984426 984426 + Variant 263183 RCV000534784 SCV000653933 249333 AGRN NM_198576.3:c.4285C>T NP_940978.2:p.Arg1429Cys NM_198576.3:c.4285C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-04-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-26 +1 984445 C T 984445 984445 + Variant 474131 RCV000542837 SCV000653934 447053 AGRN NM_198576.3:c.4298+6C>T NM_198576.3:c.4298+6C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-22 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 1 984450 A T 984450 984450 + Variant 263184 RCV000251783 SCV000317050 249334 AGRN NM_198576.3:c.4298+11A>T NM_198576.3:c.4298+11A>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 984456 C T 984456 984456 + Variant 387479 RCV000440496 SCV000529535 364323 AGRN NM_198576.3:c.4298+17C>T NM_198576.3:c.4298+17C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-26 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-26 +1 984637 G A 984637 984637 + Variant 474132 RCV000560225 SCV000653935 446965 AGRN NM_198576.3:c.4320G>A NP_940978.2:p.Pro1440= NM_198576.3:c.4320G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-12 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-12 +1 984640 G A 984640 984640 + Variant 487335 RCV000576290 SCV000677101 446975 AGRN NM_198576.3:c.4323G>A NP_940978.2:p.Ala1441= NM_198576.3:c.4323G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-25 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-25 1 984669 C T 984669 984669 + Variant 263185 RCV000243502 SCV000317051;SCV000593072 249335 AGRN NM_198576.3:c.4352C>T NP_940978.2:p.Pro1451Leu NM_198576.3:c.4352C>T:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-12-23 PreventionGenetics;Genetic Services Laboratory, University of Chicago PreventionGenetics;Genetic Services Laboratory, University of Chicago not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-12-23 +1 984669 C T 984669 984669 + Variant 263185 RCV000533961 SCV000653936 249335 AGRN NM_198576.3:c.4352C>T NP_940978.2:p.Pro1451Leu NM_198576.3:c.4352C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-28 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-28 +1 984696 C A 984696 984696 + Variant 474133 RCV000546585 SCV000653937 447074 AGRN NM_198576.3:c.4379C>A NP_940978.2:p.Ser1460Tyr NM_198576.3:c.4379C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-22 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 1 984769 C T 984769 984769 + Variant 128308 RCV000116270 SCV000317052;SCV000150188 133757 AGRN NM_198576.3:c.4452C>T NP_940978.2:p.Thr1484= NM_198576.3:c.4452C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 984769 C T 984769 984769 + Variant 128308 RCV000558276 SCV000653938 133757 AGRN NM_198576.3:c.4452C>T NP_940978.2:p.Thr1484= NM_198576.3:c.4452C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-11-23 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-23 +1 984787 C T 984787 984787 + Variant 474134 RCV000534207 SCV000653939 447077 AGRN NM_198576.3:c.4470C>T NP_940978.2:p.Asp1490= NM_198576.3:c.4470C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-08 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-08 1 984847 G C 984847 984847 + Variant 263186 RCV000253016 SCV000317053;SCV000526742 249336 AGRN NM_198576.3:c.4514+16G>C NM_198576.3:c.4514+16G>C:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-20 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-09-20 1 984949 G A 984949 984949 + Variant 263187 RCV000244907 SCV000317054 249337 AGRN NM_198576.3:c.4518G>A NP_940978.2:p.Ala1506= NM_198576.3:c.4518G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 984971 G A 984971 984971 + Variant 128309 RCV000116271 SCV000150189;SCV000317055 133758 AGRN NM_198576.3:c.4540G>A NP_940978.2:p.Ala1514Thr NM_198576.3:c.4540G>A:missense variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 -1 985070 G A 985070 985070 + Variant 252808 RCV000238604 SCV000297407;SCV000593075;SCV000564550 246856 AGRN NM_198576.3:c.4639G>A NP_940978.2:p.Glu1547Lys NM_198576.3:c.4639G>A:missense variant Uncertain significance uncertain significance;uncertain significance;uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2017-01-23 Genetic Services Laboratory, University of Chicago;GeneDx;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;GeneDx;Genetic Services Laboratory, University of Chicago not specified;not specified;not specified;not specified 25741868 germline;unknown MedGen:CN169374 2015-09-18;2017-01-23;2015-09-21 +1 984971 G A 984971 984971 + Variant 128309 RCV000514020 SCV000610743 133758 AGRN NM_198576.3:c.4540G>A NP_940978.2:p.Ala1514Thr NM_198576.3:c.4540G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-05 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-07-05 +1 984971 G A 984971 984971 + Variant 128309 RCV000551508 SCV000653940 133758 AGRN NM_198576.3:c.4540G>A NP_940978.2:p.Ala1514Thr NM_198576.3:c.4540G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-25 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-25 +1 985043 G T 985043 985043 + Variant 474135 RCV000527524 SCV000653941 447078 AGRN NM_198576.3:c.4612G>T NP_940978.2:p.Ala1538Ser NM_198576.3:c.4612G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-18 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-18 +1 985053 G A 985053 985053 + Variant 474136 RCV000535699 SCV000653942 446978 AGRN NM_198576.3:c.4622G>A NP_940978.2:p.Arg1541Gln NM_198576.3:c.4622G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-27 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-27 +1 985070 G A 985070 985070 + Variant 252808 RCV000238604 SCV000297407;SCV000593075;SCV000564550 246856 AGRN NM_198576.3:c.4639G>A NP_940978.2:p.Glu1547Lys NM_198576.3:c.4639G>A:missense variant Uncertain significance uncertain significance;uncertain significance;uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2017-09-25 Genetic Services Laboratory, University of Chicago;GeneDx;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;GeneDx;Genetic Services Laboratory, University of Chicago not specified;not specified;not specified;not specified 25741868 germline;unknown MedGen:CN169374 2015-09-18;2017-09-25;2015-09-21 +1 985070 G A 985070 985070 + Variant 252808 RCV000548184 SCV000653943 246856 AGRN NM_198576.3:c.4639G>A NP_940978.2:p.Glu1547Lys NM_198576.3:c.4639G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-29 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-29 +1 985082 C T 985082 985082 + Variant 474137 RCV000529000 SCV000653944 446997 AGRN NM_198576.3:c.4651C>T NP_940978.2:p.His1551Tyr NM_198576.3:c.4651C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-05 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-12-05 1 985126 G C 985126 985126 + Variant 387480 RCV000419307 SCV000529536 364295 AGRN NM_198576.3:c.4695G>C NP_940978.2:p.Gln1565His NM_198576.3:c.4695G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-15 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 +1 985126 G C 985126 985126 + Variant 387480 RCV000541465 SCV000653945 364295 AGRN NM_198576.3:c.4695G>C NP_940978.2:p.Gln1565His NM_198576.3:c.4695G>C:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-05 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 1 985162 G A 985162 985162 + Variant 434110 RCV000502846 SCV000593073 427608 AGRN NM_198576.3:c.4731G>A NP_940978.2:p.Pro1577= NM_198576.3:c.4731G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-08-01 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-08-01 -1 985171 C T 985171 985171 + Variant 128311 RCV000116273 SCV000150191;SCV000317057 133760 AGRN NM_198576.3:c.4740C>T NP_940978.2:p.Arg1580= NM_198576.3:c.4740C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 985171 C T 985171 985171 + Variant 128311 RCV000116273 SCV000150191;SCV000612302;SCV000317057 133760 AGRN NM_198576.3:c.4740C>T NP_940978.2:p.Arg1580= NM_198576.3:c.4740C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign;benign 0 0 0 1 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2017-07-24 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868;26467025 germline MedGen:CN169374 0000-00-00;0000-00-00;2017-07-24 +1 985171 C T 985171 985171 + Variant 128311 RCV000553091 SCV000653946 133760 AGRN NM_198576.3:c.4740C>T NP_940978.2:p.Arg1580= NM_198576.3:c.4740C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-02 1 985266 C T 985266 985266 + Variant 263188 RCV000250964 SCV000519277;SCV000317058 249338 AGRN NM_198576.3:c.4745-17C>T NM_198576.3:c.4745-17C>T:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-01-19 1 985307 GCCCCTGCCAGCCCAA G 985317 985331 + Variant 291137 RCV000296346 SCV000345838 275374 AGRN NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA NP_940978.2:p.Gln1593_Cys1597del NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-09-06 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-06 +1 985359 C T 985359 985359 + Variant 474138 RCV000524551 SCV000653947 447081 AGRN NM_198576.3:c.4821C>T NP_940978.2:p.Pro1607= NM_198576.3:c.4821C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-11-30 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-30 1 985377 C T 985377 985377 + Variant 263189 RCV000254107 SCV000317059 249339 AGRN NM_198576.3:c.4839C>T NP_940978.2:p.Cys1613= NM_198576.3:c.4839C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 985377 C T 985377 985377 + Variant 263189 RCV000541799 SCV000653948 249339 AGRN NM_198576.3:c.4839C>T NP_940978.2:p.Cys1613= NM_198576.3:c.4839C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-13 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-13 +1 985378 G A 985378 985378 + Variant 474139 RCV000554546 SCV000653949 446967 AGRN NM_198576.3:c.4840G>A NP_940978.2:p.Glu1614Lys NM_198576.3:c.4840G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-16 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-16 1 985407 C A 985407 985407 + Variant 282708 RCV000405008 SCV000334296 266945 AGRN NM_198576.3:c.4869C>A NP_940978.2:p.Phe1623Leu NM_198576.3:c.4869C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-08-14 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-08-14 +1 985407 C A 985407 985407 + Variant 282708 RCV000530565 SCV000653950 266945 AGRN NM_198576.3:c.4869C>A NP_940978.2:p.Phe1623Leu NM_198576.3:c.4869C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-02 1 985434 T A 985434 985434 + Variant 263190 RCV000245933 SCV000317060 249340 AGRN NM_198576.3:c.4879+17T>A NM_198576.3:c.4879+17T>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 985446 G T 985446 985446 + Variant 263191 RCV000250684 SCV000317061 249341 AGRN NM_198576.3:c.4879+29G>T NM_198576.3:c.4879+29G>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 985449 G A 985449 985449 + Variant 263192 RCV000242423 SCV000317062 249342 AGRN NM_198576.3:c.4879+32G>A NM_198576.3:c.4879+32G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 985626 C T 985626 985626 + Variant 474140 RCV000538720 SCV000653951 447087 AGRN NM_198576.3:c.4893C>T NP_940978.2:p.Asp1631= NM_198576.3:c.4893C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-17 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-17 +1 985700 G A 985700 985700 + Variant 451650 RCV000520546 SCV000620373 442574 AGRN NM_198576.3:c.4967G>A NP_940978.2:p.Arg1656Gln NM_198576.3:c.4967G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-24 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-24 1 985797 A G 985797 985797 + Variant 263193 RCV000247197 SCV000519188;SCV000317063 249343 AGRN NM_198576.3:c.4977-10A>G NM_198576.3:c.4977-10A>G:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-06-21 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-06-21 +1 985797 A G 985797 985797 + Variant 263193 RCV000530930 SCV000653953 249343 AGRN NM_198576.3:c.4977-10A>G NM_198576.3:c.4977-10A>G:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-28 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-28 1 985826 G A 985826 985826 + Variant 128312 RCV000116274 SCV000150192;SCV000317064;SCV000519308 133761 AGRN NM_198576.3:c.4996G>A NP_940978.2:p.Val1666Ile NM_198576.3:c.4996G>A:missense variant Conflicting interpretations of pathogenicity likely benign;benign;benign 0 0 0 1 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2016-07-15 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-07-15 +1 985826 G A 985826 985826 + Variant 128312 RCV000543394 SCV000653954 133761 AGRN NM_198576.3:c.4996G>A NP_940978.2:p.Val1666Ile NM_198576.3:c.4996G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-09 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-09 1 985853 G A 985853 985853 + Variant 243039 RCV000235025 SCV000292409 244113 AGRN NM_198576.3:c.5023G>A NP_940978.2:p.Gly1675Ser NM_198576.3:c.5023G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 1 985855 C T 985855 985855 + Variant 263194 RCV000242085 SCV000532854;SCV000317065 249344 AGRN NM_198576.3:c.5025C>T NP_940978.2:p.Gly1675= NM_198576.3:c.5025C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-11-11 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-11-11 +1 985855 C T 985855 985855 + Variant 263194 RCV000560640 SCV000653955 249344 AGRN NM_198576.3:c.5025C>T NP_940978.2:p.Gly1675= NM_198576.3:c.5025C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-14 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-14 +1 985870 C T 985870 985870 + Variant 474142 RCV000532119 SCV000653956 447099 AGRN NM_198576.3:c.5040C>T NP_940978.2:p.Asn1680= NM_198576.3:c.5040C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-18 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-18 1 985900 C T 985900 985900 + Variant 128313 RCV000116275 SCV000317066;SCV000150193;SCV000531981 133762 AGRN NM_198576.3:c.5070C>T NP_940978.2:p.Phe1690= NM_198576.3:c.5070C>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-10-26 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-10-26 +1 985900 C T 985900 985900 + Variant 128313 RCV000544877 SCV000653957 133762 AGRN NM_198576.3:c.5070C>T NP_940978.2:p.Phe1690= NM_198576.3:c.5070C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-26 +1 985923 G A 985923 985923 + Variant 474143 RCV000557276 SCV000653958 447011 AGRN NM_198576.3:c.5093G>A NP_940978.2:p.Arg1698His NM_198576.3:c.5093G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-12 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-12 1 985955 G C 985955 985955 + Variant 18241 RCV000019902 SCV000040200 33280 AGRN NM_198576.3:c.5125G>C NP_940978.2:p.Gly1709Arg NM_198576.3:c.5125G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-08-01 OMIM OMIM Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8 19631309;20301347 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2009-08-01 1 985955 G C 985955 985955 + Variant 18241 RCV000235029 SCV000292410 33280 AGRN NM_198576.3:c.5125G>C NP_940978.2:p.Gly1709Arg NM_198576.3:c.5125G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 19631309;20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 1 986143 G T 986143 986143 + Variant 126555 RCV000114427 SCV000148369 132068 AGRN NM_198576.3:c.5179G>T NP_940978.2:p.Val1727Phe NM_198576.3:c.5179G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-07-01 OMIM OMIM Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8 20301347;22205389 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2012-07-01 1 986143 G T 986143 986143 + Variant 126555 RCV000235038 SCV000292411 132068 AGRN NM_198576.3:c.5179G>T NP_940978.2:p.Val1727Phe NM_198576.3:c.5179G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347;22205389 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 -1 986165 G A 986165 986165 + Variant 263195 RCV000251658 SCV000317067;SCV000532616 249345 AGRN NM_198576.3:c.5201G>A NP_940978.2:p.Arg1734His NM_198576.3:c.5201G>A:missense variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-10-13 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-10-13 +1 986165 G A 986165 986165 + Variant 263195 RCV000251658 SCV000317067;SCV000532616 249345 AGRN NM_198576.3:c.5201G>A NP_940978.2:p.Arg1734His NM_198576.3:c.5201G>A:missense variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2017-08-10 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2017-08-10 +1 986165 G A 986165 986165 + Variant 263195 RCV000538163 SCV000653959 249345 AGRN NM_198576.3:c.5201G>A NP_940978.2:p.Arg1734His NM_198576.3:c.5201G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-04 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-04 +1 986187 C T 986187 986187 + Variant 474144 RCV000550632 SCV000653960 447103 AGRN NM_198576.3:c.5223C>T NP_940978.2:p.Gly1741= NM_198576.3:c.5223C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 +1 986190 C T 986190 986190 + Variant 474145 RCV000557635 SCV000653961 447012 AGRN NM_198576.3:c.5226C>T NP_940978.2:p.Asp1742= NM_198576.3:c.5226C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-02-21 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-02-21 +1 986628 C T 986628 986628 + Variant 474146 RCV000533690 SCV000653962 447109 AGRN NM_198576.3:c.5254-5C>T NM_198576.3:c.5254-5C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-23 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-23 +1 986637 C T 986637 986637 + Variant 474147 RCV000550981 SCV000653963 447020 AGRN NM_198576.3:c.5258C>T NP_940978.2:p.Pro1753Leu NM_198576.3:c.5258C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-24 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-24 +1 986687 G A 986687 986687 + Variant 474148 RCV000526934 SCV000653964 447056 AGRN NM_198576.3:c.5308G>A NP_940978.2:p.Asp1770Asn NM_198576.3:c.5308G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-25 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-01-25 +1 986706 G A 986706 986706 + Variant 474149 RCV000539692 SCV000653965 447059 AGRN NM_198576.3:c.5327G>A NP_940978.2:p.Arg1776His NM_198576.3:c.5327G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-15 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-15 +1 986711 G A 986711 986711 + Variant 474150 RCV000547602 SCV000653966 447111 AGRN NM_198576.3:c.5332G>A NP_940978.2:p.Ala1778Thr NM_198576.3:c.5332G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-14 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-14 1 986716 C T 986716 986716 + Variant 263196 RCV000246601 SCV000317069 249346 AGRN NM_198576.3:c.5337C>T NP_940978.2:p.Ala1779= NM_198576.3:c.5337C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 986731 C T 986731 986731 + Variant 263197 RCV000252836 SCV000317070 249347 AGRN NM_198576.3:c.5352C>T NP_940978.2:p.Phe1784= NM_198576.3:c.5352C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 -1 986732 G A 986732 986732 + Variant 128314 RCV000116276 SCV000150194 133763 AGRN NM_198576.3:c.5353G>A NP_940978.2:p.Asp1785Asn NM_198576.3:c.5353G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2013-08-23 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not provided;not provided 18414213 germline MedGen:CN221809 2013-08-23 +1 986731 C T 986731 986731 + Variant 263197 RCV000528442 SCV000653967 249347 AGRN NM_198576.3:c.5352C>T NP_940978.2:p.Phe1784= NM_198576.3:c.5352C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-30 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-30 +1 986732 G A 986732 986732 + Variant 128314 RCV000116276 SCV000150194 133763 AGRN NM_198576.3:c.5353G>A NP_940978.2:p.Asp1785Asn NM_198576.3:c.5353G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2013-08-23 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not provided;not provided 18414213 germline MedGen:CN517202 2013-08-23 1 986732 G A 986732 986732 + Variant 128314 RCV000244639 SCV000528652;SCV000317071 133763 AGRN NM_198576.3:c.5353G>A NP_940978.2:p.Asp1785Asn NM_198576.3:c.5353G>A:missense variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2017-01-10 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2017-01-10 +1 986732 G A 986732 986732 + Variant 128314 RCV000540887 SCV000653968 133763 AGRN NM_198576.3:c.5353G>A NP_940978.2:p.Asp1785Asn NM_198576.3:c.5353G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-21 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-21 1 986737 T C 986737 986737 + Variant 128315 RCV000116277 SCV000150195;SCV000317072;SCV000526743 133764 AGRN NM_198576.3:c.5358T>C NP_940978.2:p.Gly1786= NM_198576.3:c.5358T>C:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign;benign 0 0 0 1 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2016-09-20 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-09-20 1 986760 G A 986760 986760 + Variant 263198 RCV000254171 SCV000532617;SCV000317073 249348 AGRN NM_198576.3:c.5370+11G>A NM_198576.3:c.5370+11G>A:intron variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-13 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-10-13 1 986849 G A 986849 986849 + Variant 424015 RCV000485746 SCV000573787 404872 AGRN NM_198576.3:c.5387G>A NP_940978.2:p.Arg1796His NM_198576.3:c.5387G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-07 +1 986884 G A 986884 986884 + Variant 474151 RCV000552514 SCV000653969 447021 AGRN NM_198576.3:c.5422G>A NP_940978.2:p.Val1808Met NM_198576.3:c.5422G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-26 +1 986978 A G 986978 986978 + Variant 474152 RCV000533071 SCV000653970 447061 AGRN NM_198576.3:c.5516A>G NP_940978.2:p.Tyr1839Cys NM_198576.3:c.5516A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-25 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-25 +1 987012 G A 987012 987012 + Variant 474153 RCV000541245 SCV000653971 447024 AGRN NM_198576.3:c.5550G>A NP_940978.2:p.Pro1850= NM_198576.3:c.5550G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-04-25 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-25 +1 987019 G A 987019 987019 + Variant 474154 RCV000553749 SCV000653972 447063 AGRN NM_198576.3:c.5557G>A NP_940978.2:p.Glu1853Lys NM_198576.3:c.5557G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-29 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-29 1 987116 G A 987116 987116 + Variant 397549 RCV000449559 SCV000537756 384432 AGRN NM_198576.3:c.5572G>A NP_940978.2:p.Glu1858Lys NM_198576.3:c.5572G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-03-17 Genome Clinic of Geneva,University Hospital of Geneva Genome Clinic of Geneva,University Hospital of Geneva Myasthenic syndrome, congenital, 8 20301347;25741868 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-03-17 -1 987142 C T 987142 987142 + Variant 128316 RCV000116278 SCV000317074;SCV000150196 133765 AGRN NM_198576.3:c.5598C>T NP_940978.2:p.Thr1866= NM_198576.3:c.5598C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 987142 C T 987142 987142 + Variant 128316 RCV000116278 SCV000317074;SCV000612303;SCV000150196 133765 AGRN NM_198576.3:c.5598C>T NP_940978.2:p.Thr1866= NM_198576.3:c.5598C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign;benign 0 0 0 1 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2016-11-07 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868;26467025 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-11-07 +1 987142 C T 987142 987142 + Variant 128316 RCV000530029 SCV000653973 133765 AGRN NM_198576.3:c.5598C>T NP_940978.2:p.Thr1866= NM_198576.3:c.5598C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-26 1 987155 G A 987155 987155 + Variant 243040 RCV000235024 SCV000292412 244114 AGRN NM_198576.3:c.5611G>A NP_940978.2:p.Gly1871Arg NM_198576.3:c.5611G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 1 987159 G A 987159 987159 + Variant 388957 RCV000427038 SCV000531360 364297 AGRN NM_198576.3:c.5615G>A NP_940978.2:p.Arg1872Gln NM_198576.3:c.5615G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-09-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-07 1 987187 G A 987187 987187 + Variant 390523 RCV000433372 SCV000533376 364332 AGRN NM_198576.3:c.5643G>A NP_940978.2:p.Val1881= NM_198576.3:c.5643G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-10 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-10 1 987191 G A 987191 987191 + Variant 263199 RCV000249073 SCV000317075 249349 AGRN NM_198576.3:c.5647G>A NP_940978.2:p.Glu1883Lys NM_198576.3:c.5647G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 987200 C T 987200 987200 + Variant 128317 RCV000116279 SCV000317076;SCV000519175;SCV000150197 133766 AGRN NM_198576.3:c.5651+5C>T NM_198576.3:c.5651+5C>T:intron variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 +1 989148 G A 989148 989148 + Variant 474155 RCV000547044 SCV000653974 446974 AGRN NM_198576.3:c.5667G>A NP_940978.2:p.Gln1889= NM_198576.3:c.5667G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-22 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 +1 989206 A C 989206 989206 + Variant 474156 RCV000559740 SCV000653975 447113 AGRN NM_198576.3:c.5725A>C NP_940978.2:p.Ser1909Arg NM_198576.3:c.5725A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-01 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-01 1 989207 G C 989207 989207 + Variant 128318 RCV000116280 SCV000150198;SCV000317077 133767 AGRN NM_198576.3:c.5726G>C NP_940978.2:p.Ser1909Thr NM_198576.3:c.5726G>C:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 989207 G C 989207 989207 + Variant 128318 RCV000531259 SCV000653976 133767 AGRN NM_198576.3:c.5726G>C NP_940978.2:p.Ser1909Thr NM_198576.3:c.5726G>C:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-07 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-07 +1 989216 C T 989216 989216 + Variant 474157 RCV000542856 SCV000653977 447066 AGRN NM_198576.3:c.5735C>T NP_940978.2:p.Ala1912Val NM_198576.3:c.5735C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-27 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-27 +1 989219 C T 989219 989219 + Variant 474158 RCV000559811 SCV000653978 447075 AGRN NM_198576.3:c.5738C>T NP_940978.2:p.Thr1913Met NM_198576.3:c.5738C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-05 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 1 989224 C T 989224 989224 + Variant 422180 RCV000485272 SCV000571586 404873 AGRN NM_198576.3:c.5743C>T NP_940978.2:p.Arg1915Trp NM_198576.3:c.5743C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-21 +1 989295 C T 989295 989295 + Variant 474160 RCV000548862 SCV000653980 447076 AGRN NM_198576.3:c.5814C>T NP_940978.2:p.Pro1938= NM_198576.3:c.5814C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-11-14 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-14 1 989313 C T 989313 989313 + Variant 434111 RCV000499981 SCV000593074 427609 AGRN NM_198576.3:c.5832C>T NP_940978.2:p.Thr1944= NM_198576.3:c.5832C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-04-11 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-04-11 1 989811 C A 989811 989811 + Variant 263200 RCV000250424 SCV000317078 249351 AGRN NM_198576.3:c.5877-17C>A NM_198576.3:c.5877-17C>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 989847 C T 989847 989847 + Variant 474161 RCV000556702 SCV000653981 447027 AGRN NM_198576.3:c.5896C>T NP_940978.2:p.Leu1966= NM_198576.3:c.5896C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-14 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-14 +1 989899 C T 989899 989899 + Variant 474162 RCV000537577 SCV000653982 447080 AGRN NM_198576.3:c.5948C>T NP_940978.2:p.Thr1983Met NM_198576.3:c.5948C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-01 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-01 1 990213 C T 990213 990213 + Variant 430302 RCV000492841 SCV000583076 421152 AGRN NM_198576.3:c.5990C>T NP_940978.2:p.Pro1997Leu NM_198576.3:c.5990C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-22 +1 990213 C T 990213 990213 + Variant 430302 RCV000525192 SCV000653984 421152 AGRN NM_198576.3:c.5990C>T NP_940978.2:p.Pro1997Leu NM_198576.3:c.5990C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-02 +1 990218 C A 990218 990218 + Variant 474164 RCV000542184 SCV000653985 447030 AGRN NM_198576.3:c.5995C>A NP_940978.2:p.Leu1999Met NM_198576.3:c.5995C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-24 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-24 +1 990224 G A 990224 990224 + Variant 474166 RCV000526397 SCV000653987 447082 AGRN NM_198576.3:c.6001G>A NP_940978.2:p.Val2001Met NM_198576.3:c.6001G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-29 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-29 1 990242 A G 990242 990242 + Variant 385926 RCV000425631 SCV000527367 364344 AGRN NM_198576.3:c.6019A>G NP_940978.2:p.Lys2007Glu NM_198576.3:c.6019A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-05-02 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-02 1 990277 G A 990277 990277 + Variant 263201 RCV000253570 SCV000317079 249352 AGRN NM_198576.3:c.6054G>A NP_940978.2:p.Arg2018= NM_198576.3:c.6054G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 990280 C T 990280 990280 + Variant 128319 RCV000116281 SCV000150199;SCV000519176;SCV000317080 133768 AGRN NM_198576.3:c.6057C>T NP_940978.2:p.Asp2019= NM_198576.3:c.6057C>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 +1 990291 G T 990291 990291 + Variant 474167 RCV000539106 SCV000653988 447085 AGRN NM_198576.3:c.6068G>T NP_940978.2:p.Gly2023Val NM_198576.3:c.6068G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-05 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 +1 990342 G A 990342 990342 + Variant 474168 RCV000556109 SCV000653989 446976 AGRN NM_198576.3:c.6119G>A NP_940978.2:p.Arg2040Gln NM_198576.3:c.6119G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-24 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-24 1 990380 C T 990380 990380 + Variant 263157 RCV000252490 SCV000317004;SCV000519189 249353 AGRN NM_198576.3:c.*19C>T NM_198576.3:c.*19C>T:3 prime UTR variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-02-01 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-02-01 +1 1146965 G A 1146965 1146965 - Variant 474798 RCV000537491 SCV000654816 447197 TNFRSF4 NM_003327.3:c.804C>T NP_003318.1:p.Ala268= NM_003327.3:c.804C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-29 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-06-29 +1 1147337 C T 1147337 1147337 - Variant 474797 RCV000556703 SCV000654815 447083 TNFRSF4 NM_003327.3:c.619G>A NP_003318.1:p.Val207Met NM_003327.3:c.619G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-25 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-07-25 1 1147422 C T 1147422 1147422 - Variant 403556 RCV000455786 SCV000540562 389315 TNFRSF4 NM_003327.3:c.534G>A NP_003318.1:p.Glu178= NM_003327.3:c.534G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-03-28 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified 24033266 germline MedGen:CN169374 2016-03-28 +1 1148445 G A 1148445 1148445 - Variant 474796 RCV000544166 SCV000654814 447259 TNFRSF4 NM_003327.3:c.297C>T NP_003318.1:p.Cys99= NM_003327.3:c.297C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-10 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-07-10 +1 1148449 A G 1148449 1148449 - Variant 474795 RCV000531541 SCV000654813 447260 TNFRSF4 NM_003327.3:c.293T>C NP_003318.1:p.Leu98Pro NM_003327.3:c.293T>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-21 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-06-21 1 1149118 G A 1149118 1149118 - Variant 96692 RCV000082860 SCV000114912 102585 TNFRSF4 NM_003327.3:c.193C>T NP_003318.1:p.Arg65Cys NM_003327.3:c.193C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-08-26 OMIM OMIM Immunodeficiency 16;IMMUNODEFICIENCY 16 (1 patient) 23897980 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2013-08-26 +1 1149480 G A 1149480 1149480 - Variant 474794 RCV000559880 SCV000654812 447262 TNFRSF4 NM_003327.3:c.28C>T NP_003318.1:p.Arg10Cys NM_003327.3:c.28C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-25 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-07-25 1 1167636 G A 1167636 1167636 + Variant 390144 RCV000433352 SCV000532898 364446 B3GALT6 NM_080605.3:c.-23G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-20 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-20 1 1167659 A G 1167659 1167659 + Variant 60484 RCV000054390 SCV000082867 75079 B3GALT6 NM_080605.3:c.1A>G NP_542172.2:p.Met1Val NM_080605.3:c.1A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 -1 1167674 C T 1167674 1167674 + Variant 60493 RCV000054399 SCV000082876 75088 B3GALT6 NM_080605.3:c.16C>T NP_542172.2:p.Arg6Trp NM_080605.3:c.16C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 +1 1167674 C T 1167674 1167674 + Variant 60493 RCV000054399 SCV000082876 75088 B3GALT6 NM_080605.3:c.16C>T NP_542172.2:p.Arg6Trp NM_080605.3:c.16C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 1 1167675 G A 1167675 1167675 + Variant 429685 RCV000493202 SCV000582314 421163 B3GALT6 NM_080605.3:c.17G>A NP_542172.2:p.Arg6Gln NM_080605.3:c.17G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-08 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-08 1 1167680 T G 1167680 1167680 + Variant 193479 RCV000173551 SCV000224673 190643 B3GALT6 NM_080605.3:c.22T>G NP_542172.2:p.Trp8Gly NM_080605.3:c.22T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-02-05 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-02-05 1 1167689 C T 1167689 1167689 + Variant 386485 RCV000444888 SCV000528170 364354 B3GALT6 NM_080605.3:c.31C>T NP_542172.2:p.Arg11Trp NM_080605.3:c.31C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-05-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-17 +1 1167693 C G 1167693 1167693 + Variant 450501 RCV000520086 SCV000619096 442611 B3GALT6 NM_080605.3:c.35C>G NP_542172.2:p.Ala12Gly NM_080605.3:c.35C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-07-07 1 1167704 C T 1167704 1167704 + Variant 391547 RCV000441345 SCV000534639 364403 B3GALT6 NM_080605.3:c.46C>T NP_542172.2:p.Leu16= NM_080605.3:c.46C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-09 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-09 -1 1167765 C T 1167765 1167765 + Variant 392324 RCV000431606 SCV000535577 364451 B3GALT6 NM_080605.3:c.107C>T NP_542172.2:p.Pro36Leu NM_080605.3:c.107C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-04 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-04 +1 1167765 C T 1167765 1167765 + Variant 392324 RCV000431606 SCV000535577 364451 B3GALT6 NM_080605.3:c.107C>T NP_542172.2:p.Pro36Leu NM_080605.3:c.107C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-27 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-07-27 1 1167796 C T 1167796 1167796 + Variant 193478 RCV000173550 SCV000224672;SCV000525607 190642 B3GALT6 NM_080605.3:c.138C>T NP_542172.2:p.Ser46= NM_080605.3:c.138C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-09-29 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2015-02-10;2016-09-29 1 1167838 A G 1167838 1167838 + Variant 288791 RCV000380808 SCV000343009 273028 B3GALT6 NM_080605.3:c.180A>G NP_542172.2:p.Ala60= NM_080605.3:c.180A>G:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-21 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-06-21 1 1167851 A G 1167851 1167851 + Variant 60488 RCV000054394 SCV000082871 75083 B3GALT6 NM_080605.3:c.193A>G NP_542172.2:p.Ser65Gly NM_080605.3:c.193A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 1 1167858 C T 1167858 1167858 + Variant 60489 RCV000054395 SCV000082872 75084 B3GALT6 NM_080605.3:c.200C>T NP_542172.2:p.Pro67Leu NM_080605.3:c.200C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 -1 1167996 A G 1167996 1167996 + Variant 424885 RCV000488044 SCV000574737 413219 B3GALT6 NM_080605.3:c.338A>G NP_542172.2:p.Gln113Arg NM_080605.3:c.338A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-31 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-03-31 -1 1168010 GA G 1168011 1168011 + Variant 60490 RCV000054396 SCV000082873 75085 B3GALT6 NM_080605.3:c.353delA NP_542172.2:p.Asp118Alafs NM_080605.3:c.353delA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 +1 1167897 G A 1167897 1167897 + Variant 452846 RCV000520848 SCV000621690 442612 B3GALT6 NM_080605.3:c.239G>A NP_542172.2:p.Trp80Ter NM_080605.3:c.239G>A:nonsense Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-16 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2017-10-16 +1 1167996 A G 1167996 1167996 + Variant 424885 RCV000488044 SCV000574737 413219 B3GALT6 NM_080605.3:c.338A>G NP_542172.2:p.Gln113Arg NM_080605.3:c.338A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-31 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-03-31 +1 1168010 GA G 1168011 1168011 + Variant 60490 RCV000054396 SCV000082873 75085 B3GALT6 NM_080605.3:c.353delA NP_542172.2:p.Asp118Alafs NM_080605.3:c.353delA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 1 1168012 C CCTG 1168023 1168025 + Variant 421834 RCV000485868 SCV000571148 404899 B3GALT6 NM_080605.3:c.365_367dupTGC NP_542172.2:p.Leu122_Pro123insLeu Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-04 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-08-04 1 1168025 C T 1168025 1168025 + Variant 387709 RCV000432423 SCV000529832 364408 B3GALT6 NM_080605.3:c.367C>T NP_542172.2:p.Pro123Ser NM_080605.3:c.367C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-05 -1 1168064 GTGCTGGCCA G 1168073 1168081 + Variant 60494 RCV000054400 SCV000082877 75089 B3GALT6 NM_080605.3:c.415_423delATGCTGGCC NP_542172.2:p.Met139_Ala141del NM_080605.3:c.415_423delATGCTGGCC:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 +1 1168064 GTGCTGGCCA G 1168073 1168081 + Variant 60494 RCV000054400 SCV000082877 75089 B3GALT6 NM_080605.3:c.415_423delATGCTGGCC NP_542172.2:p.Met139_Ala141del NM_080605.3:c.415_423delATGCTGGCC:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 1 1168115 C A 1168115 1168115 + Variant 390636 RCV000431776 SCV000533522 364355 B3GALT6 NM_080605.3:c.457C>A NP_542172.2:p.Leu153Ile NM_080605.3:c.457C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-09 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-09 1 1168124 G A 1168124 1168124 + Variant 60486 RCV000054392 SCV000082869 75081 B3GALT6 NM_080605.3:c.466G>A NP_542172.2:p.Asp156Asn NM_080605.3:c.466G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 1 1168173 C T 1168173 1168173 + Variant 373234 RCV000413594 SCV000491813 359211 B3GALT6 NM_080605.3:c.515C>T NP_542172.2:p.Ala172Val NM_080605.3:c.515C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-25 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-25 1 1168180 G C 1168180 1168180 + Variant 281204 RCV000287240 SCV000524226;SCV000331726 265441 B3GALT6 NM_080605.3:c.522G>C NP_542172.2:p.Glu174Asp NM_080605.3:c.522G>C:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-18 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2016-03-04;2016-10-18 -1 1168239 CG C 1168246 1168246 + Variant 60492 RCV000054398 SCV000082875 75087 B3GALT6 NM_080605.3:c.588delG NP_542172.2:p.Arg197Alafs NM_080605.3:c.588delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 +1 1168239 CG C 1168246 1168246 + Variant 60492 RCV000054398 SCV000082875 75087 B3GALT6 NM_080605.3:c.588delG NP_542172.2:p.Arg197Alafs NM_080605.3:c.588delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 1 1168241 G C 1168241 1168241 + Variant 390607 RCV000425752 SCV000533484 364455 B3GALT6 NM_080605.3:c.583G>C NP_542172.2:p.Gly195Arg NM_080605.3:c.583G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-03 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-03 -1 1168241 G C 1168241 1168241 + Variant 390607 RCV000513657 SCV000608448 364455 B3GALT6 NM_080605.3:c.583G>C NP_542172.2:p.Gly195Arg NM_080605.3:c.583G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-30 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-04-30 +1 1168241 G C 1168241 1168241 + Variant 390607 RCV000513657 SCV000608448 364455 B3GALT6 NM_080605.3:c.583G>C NP_542172.2:p.Gly195Arg NM_080605.3:c.583G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-30 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-04-30 1 1168245 G T 1168245 1168245 + Variant 281706 RCV000408441 SCV000332633;SCV000524227 265943 B3GALT6 NM_080605.3:c.587G>T NP_542172.2:p.Gly196Val NM_080605.3:c.587G>T:missense variant Uncertain significance uncertain significance;uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-02-29 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2015-06-25;2016-02-29 1 1168262 G A 1168262 1168262 + Variant 423210 RCV000478140 SCV000572872 404900 B3GALT6 NM_080605.3:c.604G>A NP_542172.2:p.Ala202Thr NM_080605.3:c.604G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-30 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-30 1 1168277 G C 1168277 1168277 + Variant 60495 RCV000054401 SCV000082878 75090 B3GALT6 NM_080605.3:c.619G>C NP_542172.2:p.Asp207His NM_080605.3:c.619G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES 23664118 germline MedGen:C4017378 2013-06-06 @@ -168,12 +315,15 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 1168352 C T 1168352 1168352 + Variant 60485 RCV000054391 SCV000082868 75080 B3GALT6 NM_080605.3:c.694C>T NP_542172.2:p.Arg232Cys NM_080605.3:c.694C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 1 1168357 C T 1168357 1168357 + Variant 290128 RCV000295132 SCV000344630 274365 B3GALT6 NM_080605.3:c.699C>T NP_542172.2:p.Asp233= NM_080605.3:c.699C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-09-05 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-05 1 1168411 G A 1168411 1168411 + Variant 283369 RCV000266846 SCV000335404 267606 B3GALT6 NM_080605.3:c.753G>A NP_542172.2:p.Pro251= NM_080605.3:c.753G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-10-04 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-10-04 +1 1168476 A G 1168476 1168476 + Variant 453100 RCV000522158 SCV000621960 442613 B3GALT6 NM_080605.3:c.818A>G NP_542172.2:p.Asn273Ser NM_080605.3:c.818A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-31 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-31 1 1168492 G A 1168492 1168492 + Variant 283589 RCV000389593 SCV000335787 267826 B3GALT6 NM_080605.3:c.834G>A NP_542172.2:p.Thr278= NM_080605.3:c.834G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-10-08 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-10-08 1 1168511 G A 1168511 1168511 + Variant 283597 RCV000360273 SCV000335795 267834 B3GALT6 NM_080605.3:c.853G>A NP_542172.2:p.Asp285Asn NM_080605.3:c.853G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-10-08 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-10-08 1 1168557 G C 1168557 1168557 + Variant 60487 RCV000054393 SCV000082870 75082 B3GALT6 NM_080605.3:c.899G>C NP_542172.2:p.Cys300Ser NM_080605.3:c.899G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 1 1168567 G A 1168567 1168567 + Variant 193477 RCV000173549 SCV000224671 190641 B3GALT6 NM_080605.3:c.909G>A NP_542172.2:p.Glu303= NM_080605.3:c.909G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-02-10 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-02-10 -1 1168583 T A 1168583 1168583 + Variant 60491 RCV000054397 SCV000082874 75086 B3GALT6 NM_080605.3:c.925T>A NP_542172.2:p.Ser309Thr NM_080605.3:c.925T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 +1 1168583 T A 1168583 1168583 + Variant 60491 RCV000054397 SCV000082874 75086 B3GALT6 NM_080605.3:c.925T>A NP_542172.2:p.Ser309Thr NM_080605.3:c.925T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 1 1271772 C T 1271772 1271772 - Variant 391198 RCV000437568 SCV000534215 364458 DVL1 NM_004421.2:c.1763G>A NP_004412.2:p.Gly588Glu NM_004421.2:c.1763G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-19 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-19 +1 1271833 G A 1271833 1271833 - Variant 445443 RCV000514751 SCV000609816 438715 DVL1 NM_004421.2:c.1702C>T NP_004412.2:p.Arg568Trp NM_004421.2:c.1702C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-28 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-08-28 +1 1273372 TC T 1273373 1273373 - Variant 488046 RCV000577923 SCV000583564 481061 DVL1 NM_004421.2:c.1623delG NP_004412.2:p.Ser542Valfs NM_004421.2:c.1623delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2 25577943;29276006 unknown GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2017-06-01 1 1273380 CT C 1273381 1273381 - Variant 208047 RCV000193819 SCV000256690;SCV000243851 204306 DVL1 NM_004421.2:c.1615delA NP_004412.2:p.Ser539Alafs NM_004421.2:c.1615delA:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2015-07-30 GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-07-30;2015-03-26 1 1273413 TAGGCAGG C 1273413 1273420 - Variant 208050 RCV000194315 SCV000243854;SCV000222664 204307 DVL1 NM_004421.2:c.1576_1583delCCTGCCTAinsG NP_004412.2:p.Pro526Alafs NM_004421.2:c.1576_1583delCCTGCCTAinsG:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided;no assertion criteria provided 2015-07-30 GeneReviews;OMIM OMIM;GeneReviews Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 22431878;25577943;25817014 germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30 1 1273425 AA G 1273425 1273426 - Variant 208043 RCV000192810 SCV000243847;SCV000256686;SCV000222660 204308 DVL1 NM_004421.2:c.1570_1571delTTinsC NP_004412.2:p.Phe524Profs NM_004421.2:c.1570_1571delTTinsC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter 2015-07-30 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 @@ -181,50 +331,59 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 1273466 AC A 1273467 1273467 - Variant 208048 RCV000195217 SCV000256691;SCV000243852 204310 DVL1 NM_004421.2:c.1529delG NP_004412.2:p.Gly510Valfs NM_004421.2:c.1529delG:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2015-07-30 GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-07-30;2015-03-26 1 1273472 AG A 1273474 1273474 - Variant 219223 RCV000208706 SCV000257460 217239 DVL1 NM_004421.2:c.1522delC NP_004412.2:p.Pro508Leufs NM_004421.2:c.1522delC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-01 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2 23806086;24088041;25577943;26924530 de novo GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-12-01 1 1273476 CA C 1273477 1273477 - Variant 208045 RCV000195250 SCV000222663;SCV000243849;SCV000256688 204311 DVL1 NM_004421.2:c.1519delT NP_004412.2:p.Trp507Glyfs NM_004421.2:c.1519delT:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter 2015-07-30 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25045061;25577943;25817014;25817016 germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 -1 1273478 GGGGGCAGCCGGGT G 1273479 1273491 - Variant 208044 RCV000193850 SCV000256687;SCV000222659;SCV000243848 204312 DVL1 NM_004421.2:c.1505_1517delACCCGGCTGCCCC NP_004412.2:p.His502Profs NM_004421.2:c.1505_1517delACCCGGCTGCCCC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter 2015-07-30 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 +1 1273478 GGGGGCAGCCGGGT G 1273479 1273491 - Variant 208044 RCV000193850 SCV000256687;SCV000222659;SCV000243848 204312 DVL1 NM_004421.2:c.1505_1517delACCCGGCTGCCCC NP_004412.2:p.His502Profs NM_004421.2:c.1505_1517delACCCGGCTGCCCC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter 2017-06-01 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 25577943;25817016;29276006 de novo;germline;unknown GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2017-06-01 1 1273487 CG C 1273488 1273488 - Variant 208046 RCV000192930 SCV000222661;SCV000243850;SCV000256689 204313 DVL1 NM_004421.2:c.1508delC NP_004412.2:p.Pro503Argfs NM_004421.2:c.1508delC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter 2015-07-30 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 10319206;23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 -1 1273909 G GGCATTGGC 1273910 1273910 - Variant 373812 RCV000413003 SCV000492436 359205 DVL1 NM_004421.2:c.1249_1256dupGCCAATGC NP_004412.2:p.Val420Profs NM_004421.2:c.1249_1256dupGCCAATGC:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-08 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-12-08 +1 1273487 CGGGTGGGGCAGCG C 1273488 1273500 - Variant 488047 RCV000577891 SCV000583565 481063 DVL1 NM_004421.2:c.1496_1508delCGCTGCCCCACCC NP_004412.2:p.Pro499Argfs NM_004421.2:c.1496_1508delCGCTGCCCCACCC:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2 25577943;29276006 unknown GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2017-06-01 +1 1273790 T C 1273790 1273790 - Variant 445553 RCV000514391 SCV000610053 438825 DVL1 NM_004421.2:c.1291A>G NP_004412.2:p.Thr431Ala NM_004421.2:c.1291A>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-20 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-03-20 +1 1273909 G GGCATTGGC 1273910 1273910 - Variant 373812 RCV000413003 SCV000492436 359205 DVL1 NM_004421.2:c.1249_1256dupGCCAATGC NP_004412.2:p.Val420Profs NM_004421.2:c.1249_1256dupGCCAATGC:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-08 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-12-08 1 1274768 G A 1274768 1274768 - Variant 391268 RCV000429612 SCV000534300 364462 DVL1 NM_004421.2:c.1106C>T NP_004412.2:p.Ala369Val NM_004421.2:c.1106C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-16 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-16 -1 1277039 CCA C 1277040 1277041 - Variant 376849 RCV000429733 SCV000510745 363727 DVL1 NM_004421.2:c.605+6_605+7delTG NM_004421.2:c.605+6_605+7delTG:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-18 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-01-18-06:00 +1 1277039 CCA C 1277040 1277041 - Variant 376849 RCV000429733 SCV000510745 363727 DVL1 NM_004421.2:c.605+6_605+7delTG NM_004421.2:c.605+6_605+7delTG:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-18 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-01-18 1 1289293 A T 1289293 1289293 - Variant 402162 RCV000454237 SCV000537939 389106 MXRA8 NM_032348.3:c.1238T>A NP_115724.1:p.Ile413Asn NM_032348.3:c.1238T>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Abnormality of brain morphology 26539891 inherited HP:HP:0012443;Human Phenotype Ontology:HP:0012443;MedGen:C4021085 0000-00-00 -1 1391201 G A 1391201 1391201 + Variant 423820 RCV000479669 SCV000573565 404901 ATAD3C NM_001039211.2:c.469G>A NP_001034300.2:p.Ala157Thr NM_001039211.2:c.469G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-28 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-28 1 1447806 C T 1447806 1447806 + Variant 225697 RCV000412620 SCV000490327 227512 ATAD3A NM_018188.4:c.158C>T NP_060658.3:p.Thr53Ile NM_001170536.1:c.-297C>T:2KB upstream variant;NM_018188.4:c.158C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-11-29 OMIM OMIM Harel-Yoon syndrome;HAREL-YOON SYNDROME, AUTOSOMAL RECESSIVE 27640307 germline MedGen:C4310677;OMIM:617183 2016-11-29 1 1447806 C T 1447806 1447806 + Variant 225697 RCV000488882 SCV000267602 227512 ATAD3A NM_018188.4:c.158C>T NP_060658.3:p.Thr53Ile NM_001170536.1:c.-297C>T:2KB upstream variant;NM_018188.4:c.158C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-26 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine not specified;Congenital cataracts;Ataxia;Seizure;not specified 27640307 germline MedGen:CN169374 2016-04-26 1 1451415 C G 1451415 1451415 + Variant 432628 RCV000498349 SCV000590377 425308 ATAD3A NM_018188.4:c.229C>G NP_060658.3:p.Leu77Val NM_018188.4:c.229C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-06 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-06 +1 1451437 C T 1451437 1451437 + Variant 452865 RCV000519405 SCV000621709 442620 ATAD3A NM_018188.4:c.251C>T NP_060658.3:p.Thr84Met NM_018188.4:c.251C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-17 +1 1455640 C T 1455640 1455640 + Variant 452740 RCV000523197 SCV000621571 442621 ATAD3A NM_018188.4:c.778C>T NP_060658.3:p.Arg260Cys NM_018188.4:c.778C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-23 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-23 +1 1455664 C T 1455664 1455664 + Variant 452211 RCV000518892 SCV000620999 442622 ATAD3A NM_018188.4:c.802C>T NP_060658.3:p.Gln268Ter NM_018188.4:c.802C>T:nonsense Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-09-18 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-09-18 +1 1455968 G C 1455968 1455968 + Variant 453143 RCV000522935 SCV000622009 442623 ATAD3A NM_018188.4:c.865G>C NP_060658.3:p.Val289Leu NM_018188.4:c.865G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-31 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-31 +1 1455997 G A 1455997 1455997 + Variant 452866 RCV000521220 SCV000621710 442624 ATAD3A NM_018188.4:c.894G>A NP_060658.3:p.Thr298= NM_018188.4:c.894G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-17 1 1464679 C T 1464679 1464679 + Variant 225696 RCV000412539 SCV000490326;SCV000494159 227511 ATAD3A NM_018188.4:c.1726C>T NP_060658.3:p.Arg576Trp NM_018188.4:c.1726C>T:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided;no assertion criteria provided 2016-11-29 OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Harel-Yoon syndrome;HAREL-YOON SYNDROME 27640307 de novo;unknown MedGen:C4310677;OMIM:617183 2016-11-29;0000-00-00 -1 1464679 C T 1464679 1464679 + Variant 225696 RCV000488909 SCV000267601 227511 ATAD3A NM_018188.4:c.1726C>T NP_060658.3:p.Arg576Trp NM_018188.4:c.1726C>T:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-26 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine not provided;Developmental delay;Peripheral neuropathy;Optic atrophy;Cardiomyopathy;not provided 27640307 germline MedGen:CN221809 2016-04-26 +1 1464679 C T 1464679 1464679 + Variant 225696 RCV000488909 SCV000267601 227511 ATAD3A NM_018188.4:c.1726C>T NP_060658.3:p.Arg576Trp NM_018188.4:c.1726C>T:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-26 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine not provided;Developmental delay;Peripheral neuropathy;Optic atrophy;Cardiomyopathy;not provided 27640307 germline MedGen:CN517202 2016-04-26 1 1470750 G A 1470750 1470750 - Variant 161196 RCV000148348 SCV000195812 171043 TMEM240 NM_001114748.1:c.511C>T NP_001108220.1:p.Arg171Trp NM_001114748.1:c.511C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-10-01 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 1 1470752 G A 1470752 1470752 - Variant 161192 RCV000148344 SCV000597502;SCV000195808 171039 TMEM240 NM_001114748.1:c.509C>T NP_001108220.1:p.Pro170Leu NM_001114748.1:c.509C>T:missense variant Conflicting interpretations of pathogenicity pathogenic;likely pathogenic 1 1 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 2017-06-08 OMIM;Genetic Services Laboratory, University of Chicago OMIM;Genetic Services Laboratory, University of Chicago Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21;Spinocerebellar ataxia 21 11160961;20050888;20301317;25070513;25741868 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01;2017-06-08 -1 1470752 G A 1470752 1470752 - Variant 161192 RCV000322616 SCV000330042 171039 TMEM240 NM_001114748.1:c.509C>T NP_001108220.1:p.Pro170Leu NM_001114748.1:c.509C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-11-26 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2015-11-26 +1 1470752 G A 1470752 1470752 - Variant 161192 RCV000322616 SCV000330042 171039 TMEM240 NM_001114748.1:c.509C>T NP_001108220.1:p.Pro170Leu NM_001114748.1:c.509C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-11-26 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2015-11-26 1 1470772 G C 1470772 1470772 - Variant 161193 RCV000148345 SCV000195809 171040 TMEM240 NM_001114748.1:c.489C>G NP_001108220.1:p.Tyr163Ter NM_001114748.1:c.489C>G:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-10-01 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 1 1470837 G A 1470837 1470837 - Variant 393221 RCV000424137 SCV000536598 364388 TMEM240 NM_001114748.1:c.424C>T NP_001108220.1:p.Arg142Trp NM_001114748.1:c.424C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-25 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-25 1 1470969 C T 1470969 1470969 - Variant 373233 RCV000413204 SCV000491812 359223 TMEM240 NM_001114748.1:c.373G>A NP_001108220.1:p.Asp125Asn NM_001114748.1:c.373G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-22 1 1470996 G A 1470996 1470996 - Variant 161194 RCV000148346 SCV000195810 171041 TMEM240 NM_001114748.1:c.346C>T NP_001108220.1:p.Arg116Cys NM_001114748.1:c.346C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-10-01 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 1 1470998 A G 1470998 1470998 - Variant 437011 RCV000503526 SCV000597503 427636 TMEM240 NM_001114748.1:c.344T>C NP_001108220.1:p.Val115Ala NM_001114748.1:c.344T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-17 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-12-17 1 1471103 G A 1471103 1471103 - Variant 161195 RCV000148347 SCV000195811 171042 TMEM240 NM_001114748.1:c.239C>T NP_001108220.1:p.Thr80Met NM_001114748.1:c.239C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-10-01 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 -1 1471146 C T 1471146 1471146 - Variant 372833 RCV000413958 SCV000491361 359235 TMEM240 NM_001114748.1:c.196G>A NP_001108220.1:p.Gly66Arg NM_001114748.1:c.196G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-27 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-01-27 +1 1471146 C T 1471146 1471146 - Variant 372833 RCV000413958 SCV000491361 359235 TMEM240 NM_001114748.1:c.196G>A NP_001108220.1:p.Gly66Arg NM_001114748.1:c.196G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-27 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-01-27 1 1550992 C A 1550992 1550992 + Variant 218832 RCV000202894 SCV000258233 215186 MIB2 NM_080875.2:c.153C>A NP_543151.2:p.Cys51Ter NM_001170689.1:c.-618C>A:2KB upstream variant;NM_080875.2:c.153C>A:nonsense;NR_033183.1:n.198C>A:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-06-11 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 2015-06-11 1 1637084 TTTTC T 1637085 1637088 - Variant 421783 RCV000480151 SCV000571086 404982 CDK11A NM_024011.3:c.1329_1332delGAAA NP_076916.2:p.Lys444Glnfs NM_024011.3:c.1329_1332delGAAA:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-25 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-25 1 1718817 C T 1718817 1718817 - Variant 224718 RCV000210260 SCV000266340 226495 GNB1 NM_002074.4:c.976G>A NP_002065.1:p.Ala326Thr NM_002074.4:c.976G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Intellectual disability;Global developmental delay;Generalized tonic-clonic seizures;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0001249;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0002069;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001306;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002069;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002407;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007252;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0010520;MedGen:C0036572;MedGen:C0494475;MedGen:C1843367;MedGen:C4020875;MedGen:CN001147 2016-02-10 -1 1720541 G A 1720541 1720541 - Variant 444148 RCV000512793 SCV000608449 437788 GNB1 NM_002074.4:c.867C>T NP_002065.1:p.Tyr289= NM_002074.4:c.867C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-31 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 -1 1735942 C T 1735942 1735942 - Variant 444149 RCV000513217 SCV000608450 437789 GNB1 NM_002074.4:c.346G>A NP_002065.1:p.Gly116Ser NM_002074.4:c.346G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-31 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 +1 1720541 G A 1720541 1720541 - Variant 444148 RCV000512793 SCV000608449 437788 GNB1 NM_002074.4:c.867C>T NP_002065.1:p.Tyr289= NM_002074.4:c.867C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-31 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 +1 1720578 G C 1720578 1720578 - Variant 452928 RCV000523284 SCV000621777 442673 GNB1 NM_002074.4:c.830C>G NP_002065.1:p.Ser277Cys NM_002074.4:c.830C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-17 +1 1735900 C T 1735900 1735900 - Variant 452797 RCV000523422 SCV000621634 442675 GNB1 NM_002074.4:c.388G>A NP_002065.1:p.Glu130Lys NM_002074.4:c.388G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-16 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2017-10-16 +1 1735942 C T 1735942 1735942 - Variant 444149 RCV000513217 SCV000608450 437789 GNB1 NM_002074.4:c.346G>A NP_002065.1:p.Gly116Ser NM_002074.4:c.346G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-31 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 1 1735987 T C 1735987 1735987 - Variant 224717 RCV000210283 SCV000266339 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Expressive language delay;Seizures;Focal seizures with impairment of consciousness or awareness;Intellectual disability;Global developmental delay;Generalized tonic-clonic seizures;Developmental regression;Multifocal epileptiform discharges;EEG with generalized epileptiform discharges;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0001249;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0002069;HP:HP:0002376;HP:HP:0002384;HP:HP:0002474;HP:HP:0010841;HP:HP:0011198;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001306;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002069;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002384;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002407;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002471;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002489;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006797;Human Phenotype Ontology:HP:0006828;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006854;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007037;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007242;Human Phenotype Ontology:HP:0007247;Human Phenotype Ontology:HP:0007252;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;MedGen:C0036572;MedGen:C0149958;MedGen:C0494475;MedGen:C1843367;MedGen:C1847610;MedGen:C1855009;MedGen:C4020875;MedGen:C4021219;MedGen:C4023476;MedGen:CN001147 2016-02-10 1 1735987 T C 1735987 1735987 - Variant 224717 RCV000225171 SCV000282065 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 27108799 germline MedGen:C4310774;OMIM:616973 2016-08-08 -1 1735987 T C 1735987 1735987 - Variant 224717 RCV000480671 SCV000571181 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-17 GeneDx GeneDx not provided;Not Provided 27108799 germline MedGen:CN221809 2017-03-17 +1 1735987 T C 1735987 1735987 - Variant 224717 RCV000480671 SCV000571181 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-17 GeneDx GeneDx not provided;Not Provided 27108799 germline MedGen:CN517202 2017-03-17 1 1736004 A G 1736004 1736004 - Variant 224716 RCV000210270 SCV000266338 226497 GNB1 NM_002074.4:c.284T>C NP_002065.1:p.Leu95Pro NM_001282538.1:c.-17T>C:5 prime UTR variant;NM_002074.4:c.284T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Expressive language delay;Seizures;Failure to thrive;Feeding difficulties;Nystagmus;Cortical visual impairment;Strabismus;Intellectual disability;Global developmental delay;Growth delay;Limb hypertonia;Inability to walk;Multifocal epileptiform discharges;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0000639;HP:HP:0001249;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001508;HP:HP:0001510;HP:HP:0002474;HP:HP:0002509;HP:HP:0002540;HP:HP:0010841;HP:HP:0011968;HP:HP:0100704;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000595;Human Phenotype Ontology:HP:0000639;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002540;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0011968;Human Phenotype Ontology:HP:0100704;MedGen:C0028738;MedGen:C0036572;MedGen:C0038379;MedGen:C0155320;MedGen:C0231246;MedGen:C0232466;MedGen:C0560046;MedGen:C1838391;MedGen:C1843367;MedGen:C1847610;MedGen:C3552463;MedGen:C4020875;MedGen:C4021219;MedGen:CN001147 2016-02-10 -1 1737915 T C 1737915 1737915 - Variant 422536 RCV000486531 SCV000572033 404989 GNB1 NM_002074.4:c.266A>G NP_002065.1:p.Lys89Arg NM_002074.4:c.266A>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-24 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-10-24 -1 1737942 A C 1737942 1737942 - Variant 391609 RCV000439050 SCV000534719 364646 GNB1 NM_002074.4:c.239T>G NP_002065.1:p.Ile80Ser NM_002074.4:c.239T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-16 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-12-16 +1 1737915 T C 1737915 1737915 - Variant 422536 RCV000486531 SCV000572033 404989 GNB1 NM_002074.4:c.266A>G NP_002065.1:p.Lys89Arg NM_002074.4:c.266A>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-24 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-10-24 +1 1737942 A C 1737942 1737942 - Variant 391609 RCV000439050 SCV000534719 364646 GNB1 NM_002074.4:c.239T>G NP_002065.1:p.Ile80Ser NM_002074.4:c.239T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-16 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-12-16 1 1737942 A G 1737942 1737942 - Variant 208722 RCV000190738 SCV000244179 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Ambry Genetics Ambry Genetics Inborn genetic diseases;MR/ID/DD;Dermatologic (child onset);Neurologic (child onset);Ophthalmologic (child onset) 22947299;23037933;23169492;23619275;23652378;23881473;24022298;24121147;24394680;25356970;25560141;25626707;25730230;27108799 germline MeSH:D030342;MedGen:C0950123 0000-00-00 1 1737942 A G 1737942 1737942 - Variant 208722 RCV000208571 SCV000263295 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-12-04 Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes Dystonia;Hypothyroidism;Intellectual disability;Growth delay;Infantile axial hypotonia;Upper limb hypertonia;Cleft palate 20301334;21956720;25485910;27108799 de novo GeneTests:25706;Genetic Alliance:Dystonia/2405;Human Phenotype Ontology:HP:0000175;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000750;Human Phenotype Ontology:HP:0000821;Human Phenotype Ontology:HP:0000851;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001332;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002451;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0003222;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0008203;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0009062;Human Phenotype Ontology:HP:0012758;Human Phenotype Ontology:HP:0012759;Human Phenotype Ontology:HP:0200049;MedGen:C0008925;MedGen:C0013421;MedGen:C0020676;MedGen:C0393593;MedGen:C1843367;MedGen:C1970931;MedGen:C2750951;MedGen:C3552463;MedGen:C3806604;MedGen:C4021898;MedGen:CN001379;MedGen:CN117790;MedGen:CN200780;OMIM:PS128100 2015-12-04 1 1737942 A G 1737942 1737942 - Variant 208722 RCV000210259 SCV000266337 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Expressive language delay;Seizures;Failure to thrive;Nystagmus;Strabismus;Global developmental delay;Growth delay;Developmental regression;Limb hypertonia;Inability to walk;Multifocal epileptiform discharges;EEG with generalized epileptiform discharges;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0000639;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001508;HP:HP:0001510;HP:HP:0002376;HP:HP:0002474;HP:HP:0002509;HP:HP:0002540;HP:HP:0010841;HP:HP:0011198;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000639;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002471;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002489;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002540;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006797;Human Phenotype Ontology:HP:0006828;Human Phenotype Ontology:HP:0006854;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007037;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007242;Human Phenotype Ontology:HP:0007247;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;MedGen:C0028738;MedGen:C0036572;MedGen:C0038379;MedGen:C0231246;MedGen:C0560046;MedGen:C1838391;MedGen:C1847610;MedGen:C1855009;MedGen:C3552463;MedGen:C4020875;MedGen:C4021219;MedGen:C4023476;MedGen:CN001147 2016-02-10 1 1737942 A G 1737942 1737942 - Variant 208722 RCV000225179 SCV000282059 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 25485910;27108799 unknown MedGen:C4310774;OMIM:616973 2016-08-08 1 1737942 A G 1737942 1737942 - Variant 208722 RCV000225295 SCV000282060 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Myelodysplastic syndrome 25485910;27108799 somatic Genetic Alliance:Myelodysplastic+syndromes/5021;MeSH:D009190;MedGen:C0026986;OMIM:137295.0002;OMIM:137295.0014;OMIM:614286;Orphanet:52688 2016-08-08 -1 1737942 A G 1737942 1737942 - Variant 208722 RCV000418135 SCV000529467 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-28 GeneDx GeneDx not provided;Not Provided 27108799 germline MedGen:CN221809 2016-06-28 +1 1737942 A G 1737942 1737942 - Variant 208722 RCV000418135 SCV000529467 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-28 GeneDx GeneDx not provided;Not Provided 27108799 germline MedGen:CN517202 2016-06-28 1 1737942 A T 1737942 1737942 - Variant 224715 RCV000210280 SCV000266336 226498 GNB1 NM_002074.4:c.239T>A NP_002065.1:p.Ile80Asn NM_001282538.1:c.-62T>A:5 prime UTR variant;NM_002074.4:c.239T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Failure to thrive;Feeding difficulties;Focal seizures with impairment of consciousness or awareness;Cortical visual impairment;Global developmental delay;Growth delay;Limb hypertonia;Infantile muscular hypotonia;Multifocal epileptiform discharges;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001508;HP:HP:0001510;HP:HP:0002384;HP:HP:0002509;HP:HP:0008947;HP:HP:0010841;HP:HP:0011968;HP:HP:0100704;Human Phenotype Ontology:HP:0000595;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002384;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002449;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002523;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0008947;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010572;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0011968;Human Phenotype Ontology:HP:0100704;MedGen:C0036572;MedGen:C0149958;MedGen:C0155320;MedGen:C0231246;MedGen:C0232466;MedGen:C1838391;MedGen:C1860834;MedGen:C3552463;MedGen:C4020875;MedGen:C4021219;MedGen:CN001147 2016-02-10 1 1737942 A T 1737942 1737942 - Variant 224715 RCV000225195 SCV000282062 226498 GNB1 NM_002074.4:c.239T>A NP_002065.1:p.Ile80Asn NM_001282538.1:c.-62T>A:5 prime UTR variant;NM_002074.4:c.239T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 25485910;27108799 unknown MedGen:C4310774;OMIM:616973 2016-08-08 1 1737942 A T 1737942 1737942 - Variant 224715 RCV000225283 SCV000282063 226498 GNB1 NM_002074.4:c.239T>A NP_002065.1:p.Ile80Asn NM_001282538.1:c.-62T>A:5 prime UTR variant;NM_002074.4:c.239T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Acute lymphoid leukemia 25485910;27108799 somatic Gene:100310785;Genetic Alliance:Acute+Lymphoblastic+Leukemia/188;MedGen:C0023449;OMIM:613065;Office of Rare Diseases:522;Orphanet:513;SNOMED CT:91857003 2016-08-08 1 1737948 T C 1737948 1737948 - Variant 224714 RCV000210269 SCV000266335 226499 GNB1 NM_002074.4:c.233A>G NP_002065.1:p.Lys78Arg NM_001282538.1:c.-68A>G:5 prime UTR variant;NM_002074.4:c.233A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Feeding difficulties;Strabismus;Global developmental delay;Growth delay;Infantile muscular hypotonia;EEG with generalized epileptiform discharges;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001510;HP:HP:0008947;HP:HP:0011198;HP:HP:0011968;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002449;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002523;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0008947;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010572;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;Human Phenotype Ontology:HP:0011968;MedGen:C0036572;MedGen:C0038379;MedGen:C0232466;MedGen:C1860834;MedGen:C3552463;MedGen:C4020875;MedGen:C4023476;MedGen:CN001147 2016-02-10 1 1737948 T C 1737948 1737948 - Variant 224714 RCV000225134 SCV000282064 226499 GNB1 NM_002074.4:c.233A>G NP_002065.1:p.Lys78Arg NM_001282538.1:c.-68A>G:5 prime UTR variant;NM_002074.4:c.233A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 27108799 germline MedGen:C4310774;OMIM:616973 2016-08-08 +1 1737948 T C 1737948 1737948 - Variant 224714 RCV000523590 SCV000618168 226499 GNB1 NM_002074.4:c.233A>G NP_002065.1:p.Lys78Arg NM_001282538.1:c.-68A>G:5 prime UTR variant;NM_002074.4:c.233A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-09-29 GeneDx GeneDx not provided;Not Provided 27108799 germline MedGen:CN517202 2017-09-29 1 1737951 C G 1737951 1737951 - Variant 431082 RCV000496115 SCV000574520 424605 GNB1 NM_002074.4:c.230G>C NP_002065.1:p.Gly77Ala NM_002074.4:c.230G>C:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 KK Women’s and Children’s Hospital KK Women’s and Children’s Hospital Mental retardation, autosomal dominant 42 25741868;27759915 de novo Human Phenotype Ontology:HP:0000175;Human Phenotype Ontology:HP:0000565;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001290;Human Phenotype Ontology:HP:0001332;Human Phenotype Ontology:HP:0006721;MedGen:C4310774;OMIM:616973 0000-00-00 1 1737952 C T 1737952 1737952 - Variant 224713 RCV000210256 SCV000266334 226500 GNB1 NM_002074.4:c.229G>A NP_002065.1:p.Gly77Ser NM_001282538.1:c.-72G>A:5 prime UTR variant;NM_002074.4:c.229G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Global developmental delay;Muscular hypotonia 21956720;27108799 de novo HP:HP:0001252;HP:HP:0001263;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;MedGen:C4020875;MedGen:CN001147 2016-02-10 1 1737953 A C 1737953 1737953 - Variant 224712 RCV000210277 SCV000266333 226501 GNB1 NM_002074.4:c.228T>G NP_002065.1:p.Asp76Glu NM_001282538.1:c.-73T>G:5 prime UTR variant;NM_002074.4:c.228T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Failure to thrive;Focal seizures with impairment of consciousness or awareness;Strabismus;Global developmental delay;Limb hypertonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0001250;HP:HP:0001263;HP:HP:0001508;HP:HP:0002384;HP:HP:0002509;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002384;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0010520;MedGen:C0036572;MedGen:C0038379;MedGen:C0149958;MedGen:C0231246;MedGen:C1838391;MedGen:C4020875 2016-02-10 @@ -232,210 +391,277 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 1737954 T C 1737954 1737954 - Variant 224711 RCV000225254 SCV000282057 226502 GNB1 NM_002074.4:c.227A>G NP_002065.1:p.Asp76Gly NM_001282538.1:c.-74A>G:5 prime UTR variant;NM_002074.4:c.227A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 25485910;27108799 unknown MedGen:C4310774;OMIM:616973 2016-08-08 1 1737954 T C 1737954 1737954 - Variant 224711 RCV000225357 SCV000282058 226502 GNB1 NM_002074.4:c.227A>G NP_002065.1:p.Asp76Gly NM_001282538.1:c.-74A>G:5 prime UTR variant;NM_002074.4:c.227A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Acute lymphoid leukemia 25485910;27108799 somatic Gene:100310785;Genetic Alliance:Acute+Lymphoblastic+Leukemia/188;MedGen:C0023449;OMIM:613065;Office of Rare Diseases:522;Orphanet:513;SNOMED CT:91857003 2016-08-08 1 1956362 G A 1956362 1956362 + Variant 256824 RCV000245842 SCV000305551 249668 GABRD NM_000815.4:c.69-19G>A NM_000815.4:c.69-19G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 -1 1956459 C T 1956459 1956459 + Variant 374418 RCV000416042 SCV000493139 361304 GABRD NM_000815.4:c.147C>T NP_000806.2:p.Ala49= NM_000815.4:c.147C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-31 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2016-08-31 +1 1956396 C T 1956396 1956396 + Variant 460016 RCV000533983 SCV000632051 447688 GABRD NM_000815.4:c.84C>T NP_000806.2:p.Ile28= NM_000815.4:c.84C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-23 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-01-23 +1 1956408 G C 1956408 1956408 + Variant 460019 RCV000538743 SCV000632054 447653 GABRD NM_000815.4:c.96G>C NP_000806.2:p.Val32= NM_000815.4:c.96G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-26 +1 1956459 C T 1956459 1956459 + Variant 374418 RCV000416042 SCV000493139 361304 GABRD NM_000815.4:c.147C>T NP_000806.2:p.Ala49= NM_000815.4:c.147C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-31 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2016-08-31 +1 1956970 C T 1956970 1956970 + Variant 460008 RCV000555228 SCV000632041 447663 GABRD NM_000815.4:c.263C>T NP_000806.2:p.Thr88Met NM_000815.4:c.263C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-04 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-05-04 1 1957037 T C 1957037 1957037 + Variant 256823 RCV000254456 SCV000305550 249669 GABRD NM_000815.4:c.330T>C NP_000806.2:p.Gly110= NM_000815.4:c.330T>C:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1957112 C T 1957112 1957112 + Variant 460009 RCV000533383 SCV000632042 447690 GABRD NM_000815.4:c.405C>T NP_000806.2:p.His135= NM_000815.4:c.405C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-12 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-08-12 +1 1957121 G A 1957121 1957121 + Variant 460010 RCV000543716 SCV000632043 447710 GABRD NM_000815.4:c.414G>A NP_000806.2:p.Thr138= NM_000815.4:c.414G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-28 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-28 +1 1957183 C T 1957183 1957183 + Variant 447367 RCV000516909 SCV000613370 440428 GABRD NM_000815.4:c.470+6C>T NM_000815.4:c.470+6C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-09 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2017-06-09 +1 1957183 C T 1957183 1957183 + Variant 447367 RCV000557679 SCV000632044 440428 GABRD NM_000815.4:c.470+6C>T NM_000815.4:c.470+6C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-06 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-06 +1 1959008 C A 1959008 1959008 + Variant 460011 RCV000536140 SCV000632045 447557 GABRD NM_000815.4:c.471-8C>A NM_000815.4:c.471-8C>A:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-16 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-06-16 +1 1959037 C T 1959037 1959037 + Variant 460012 RCV000546205 SCV000632046 447712 GABRD NM_000815.4:c.492C>T NP_000806.2:p.Cys164= NM_000815.4:c.492C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-05 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-03-05 +1 1959067 C T 1959067 1959067 + Variant 460013 RCV000556453 SCV000632047 447670 GABRD NM_000815.4:c.522C>T NP_000806.2:p.Asp174= NM_000815.4:c.522C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-19 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-19 1 1959075 A C 1959075 1959075 + Variant 16212 RCV000017598 SCV000037871 31251 GABRD NM_000815.4:c.530A>C NP_000806.2:p.Glu177Ala NM_000815.4:c.530A>C:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-07-01 OMIM OMIM Generalized epilepsy with febrile seizures plus type 5;GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO 15115768 germline Genetics Home Reference:genetic-epilepsy-with-febrile-seizures-plus;MedGen:C3150401;OMIM:613060 2004-07-01 +1 1959636 G A 1959636 1959636 + Variant 447368 RCV000518032 SCV000613371 440429 GABRD NM_000815.4:c.596G>A NP_000806.2:p.Ser199Asn NM_000815.4:c.596G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-20 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2016-12-20 1 1959699 G A 1959699 1959699 + Variant 16213 RCV000017599 SCV000037872 31252 GABRD NM_000815.4:c.659G>A NP_000806.2:p.Arg220His NM_000815.4:c.659G>A:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-06-01 OMIM OMIM Generalized epilepsy with febrile seizures plus type 5;GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO 15115768;16023832 germline Genetics Home Reference:genetic-epilepsy-with-febrile-seizures-plus;MedGen:C3150401;OMIM:613060 2005-06-01 1 1959699 G A 1959699 1959699 + Variant 16213 RCV000017600 SCV000037873 31252 GABRD NM_000815.4:c.659G>A NP_000806.2:p.Arg220His NM_000815.4:c.659G>A:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-06-01 OMIM OMIM Epilepsy, juvenile myoclonic 7 15115768;16023832 germline MedGen:C2751604;OMIM:137163.0002;OMIM:613060 2005-06-01 1 1959699 G A 1959699 1959699 + Variant 16213 RCV000022558 SCV000043847 31252 GABRD NM_000815.4:c.659G>A NP_000806.2:p.Arg220His NM_000815.4:c.659G>A:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-06-01 OMIM OMIM Epilepsy, idiopathic generalized 10 15115768;16023832 germline Genetic Alliance:Epilepsy%2C+idiopathic+generalized+10/8327;MedGen:C2751603;OMIM:137163.0002;OMIM:613060 2005-06-01 +1 1959699 G A 1959699 1959699 + Variant 16213 RCV000535201 SCV000632048 31252 GABRD NM_000815.4:c.659G>A NP_000806.2:p.Arg220His NM_000815.4:c.659G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-14 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-08-14 1 1959708 C T 1959708 1959708 + Variant 218470 RCV000203171 SCV000257725 215187 GABRD NM_000815.4:c.668C>T NP_000806.2:p.Thr223Met NM_000815.4:c.668C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-14 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 2015-04-14 -1 1960633 G A 1960633 1960633 + Variant 235308 RCV000224860 SCV000280781 236995 GABRD NM_000815.4:c.775G>A NP_000806.2:p.Val259Ile NM_000815.4:c.775G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-02-01 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-02-01-06:00 +1 1960586 T C 1960586 1960586 + Variant 460014 RCV000550107 SCV000632049 447714 GABRD NM_000815.4:c.728T>C NP_000806.2:p.Leu243Pro NM_000815.4:c.728T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-20 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-20 +1 1960633 G A 1960633 1960633 + Variant 235308 RCV000224860 SCV000280781 236995 GABRD NM_000815.4:c.775G>A NP_000806.2:p.Val259Ile NM_000815.4:c.775G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-02-01 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2016-02-01 1 1960674 C T 1960674 1960674 + Variant 256825 RCV000248963 SCV000305552 249670 GABRD NM_000815.4:c.816C>T NP_000806.2:p.Ser272= NM_000815.4:c.816C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1960689 C T 1960689 1960689 + Variant 460015 RCV000528248 SCV000632050 447672 GABRD NM_000815.4:c.831C>T NP_000806.2:p.Pro277= NM_000815.4:c.831C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-02-23 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-02-23 +1 1961009 G A 1961009 1961009 + Variant 460017 RCV000550297 SCV000632052 447427 GABRD NM_000815.4:c.867G>A NP_000806.2:p.Thr289= NM_000815.4:c.867G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-22 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-04-22 +1 1961111 C A 1961111 1961111 + Variant 460018 RCV000528733 SCV000632053 447681 GABRD NM_000815.4:c.969C>A NP_000806.2:p.Ala323= NM_000815.4:c.969C>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-28 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-06-28 +1 1961144 C T 1961144 1961144 + Variant 460002 RCV000540976 SCV000632034 447558 GABRD NM_000815.4:c.1002C>T NP_000806.2:p.Asn334= NM_000815.4:c.1002C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-12 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-08-12 1 1961408 C T 1961408 1961408 + Variant 256822 RCV000249647 SCV000305549 249671 GABRD NM_000815.4:c.1060-14C>T NM_000815.4:c.1060-14C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1961415 C T 1961415 1961415 + Variant 460003 RCV000555572 SCV000632035 447724 GABRD NM_000815.4:c.1060-7C>T NM_000815.4:c.1060-7C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-16 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-05-16 +1 1961466 C T 1961466 1961466 + Variant 460004 RCV000524915 SCV000632036 447683 GABRD NM_000815.4:c.1104C>T NP_000806.2:p.Ala368= NM_000815.4:c.1104C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-08-11 +1 1961467 G A 1961467 1961467 + Variant 447365 RCV000517771 SCV000613368 440430 GABRD NM_000815.4:c.1105G>A NP_000806.2:p.Gly369Ser NM_000815.4:c.1105G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-23 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2017-02-23 +1 1961469 C A 1961469 1961469 + Variant 460005 RCV000541195 SCV000632037 447685 GABRD NM_000815.4:c.1107C>A NP_000806.2:p.Gly369= NM_000815.4:c.1107C>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-18 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-05-18 1 1961470 G A 1961470 1961470 + Variant 375540 RCV000417018 SCV000494562 362315 GABRD NM_000815.4:c.1108G>A NP_000806.2:p.Val370Ile NM_000815.4:c.1108G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-16 Neurogenetics Laboratory - MEYER,AOU Meyer Neurogenetics Laboratory - MEYER,AOU Meyer Epileptic encephalopathy 25741868 unknown Human Phenotype Ontology:HP:0200134;MedGen:C0543888 2016-11-16 +1 1961470 G A 1961470 1961470 + Variant 375540 RCV000556057 SCV000632038 362315 GABRD NM_000815.4:c.1108G>A NP_000806.2:p.Val370Ile NM_000815.4:c.1108G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-14 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-06-14 +1 1961512 C T 1961512 1961512 + Variant 460006 RCV000529757 SCV000632039 447731 GABRD NM_000815.4:c.1150C>T NP_000806.2:p.Pro384Ser NM_000815.4:c.1150C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-29 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-04-29 +1 1961528 G C 1961528 1961528 + Variant 447366 RCV000518660 SCV000613369 440431 GABRD NM_000815.4:c.1166G>C NP_000806.2:p.Gly389Ala NM_000815.4:c.1166G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-30 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2016-11-30 +1 1961564 C T 1961564 1961564 + Variant 460007 RCV000544951 SCV000632040 447432 GABRD NM_000815.4:c.1202C>T NP_000806.2:p.Thr401Met NM_000815.4:c.1202C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-26 1 2160164 G A 2160164 2160164 + Variant 392772 RCV000441067 SCV000536096 364806 SKI NM_003036.3:c.-42G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-16 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-16 1 2160178 G T 2160178 2160178 + Variant 393061 RCV000425453 SCV000536418 364809 SKI NM_003036.3:c.-28G>T Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-17 1 2160187 G A 2160187 2160187 + Variant 386778 RCV000444804 SCV000528551 364818 SKI NM_003036.3:c.-19G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-06-07 1 2160216 C T 2160216 2160216 + Variant 426734 RCV000490080 SCV000577262 414765 SKI NM_003036.3:c.11C>T NP_003027.1:p.Ala4Val NM_003036.3:c.11C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-06 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-06 -1 2160264 C T 2160264 2160264 + Variant 409969 RCV000457554 SCV000550372 391048 SKI NM_003036.3:c.59C>T NP_003027.1:p.Thr20Met NM_003036.3:c.59C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-05-30 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-30 +1 2160264 C T 2160264 2160264 + Variant 409969 RCV000457554 SCV000550372 391048 SKI NM_003036.3:c.59C>T NP_003027.1:p.Thr20Met NM_003036.3:c.59C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-05-30 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-30 1 2160267 T G 2160267 2160267 + Variant 224869 RCV000210450 SCV000266527 226716 SKI NM_003036.3:c.62T>G NP_003027.1:p.Leu21Arg NM_003036.3:c.62T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome 20301454;23023332 de novo GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 0000-00-00 1 2160299 C G 2160299 2160299 + Variant 37259 RCV000030817 SCV000266525;SCV000053492 45849 SKI NM_003036.3:c.94C>G NP_003027.1:p.Leu32Val NM_003036.3:c.94C>G:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2015-02-01 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230;24736733 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01;0000-00-00 1 2160304 C G 2160304 2160304 + Variant 139112 RCV000173298 SCV000269831;SCV000224395;SCV000171637;SCV000605113;SCV000309367 142815 SKI NM_003036.3:c.99C>G NP_003027.1:p.Gly33= NM_003036.3:c.99C>G:synonymous variant Benign benign;benign;benign;benign;benign 0 0 0 0 5 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2017-02-15 ARUP Laboratories, Molecular Genetics and Genomics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;not specified;Not specified;NOT SPECIFIED 24033266;25741868 germline MedGen:CN169374 2014-05-27;2015-01-13;2015-11-03;0000-00-00;2017-02-15 -1 2160304 C G 2160304 2160304 + Variant 139112 RCV000226611 SCV000287846 142815 SKI NM_003036.3:c.99C>G NP_003027.1:p.Gly33= NM_003036.3:c.99C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-25 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-25 +1 2160304 C G 2160304 2160304 + Variant 139112 RCV000226611 SCV000287846 142815 SKI NM_003036.3:c.99C>G NP_003027.1:p.Gly33= NM_003036.3:c.99C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-03 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-08-03 1 2160305 G A 2160305 2160305 + Variant 37261 RCV000030819 SCV000266520;SCV000053494 45851 SKI NM_003036.3:c.100G>A NP_003027.1:p.Gly34Ser NM_003036.3:c.100G>A:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2015-02-01 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230;24736733 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01;0000-00-00 -1 2160305 G A 2160305 2160305 + Variant 37261 RCV000200686 SCV000250672 45851 SKI NM_003036.3:c.100G>A NP_003027.1:p.Gly34Ser NM_003036.3:c.100G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2014-12-11 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2014-12-11 -1 2160305 G T 2160305 2160305 + Variant 37262 RCV000030820 SCV000053495;SCV000266522 45852 SKI NM_003036.3:c.100G>T NP_003027.1:p.Gly34Cys NM_003036.3:c.100G>T:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2012-11-02 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02;0000-00-00 +1 2160305 G A 2160305 2160305 + Variant 37261 RCV000200686 SCV000250672 45851 SKI NM_003036.3:c.100G>A NP_003027.1:p.Gly34Ser NM_003036.3:c.100G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2014-12-11 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2014-12-11 +1 2160305 G T 2160305 2160305 + Variant 37262 RCV000030820 SCV000053495;SCV000266522;SCV000637271 45852 SKI NM_003036.3:c.100G>T NP_003027.1:p.Gly34Cys NM_003036.3:c.100G>T:missense variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2017-06-15 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;Invitae OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;Invitae Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230;28492532 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02;0000-00-00;2017-06-15 1 2160306 G A 2160306 2160306 + Variant 37260 RCV000030818 SCV000266523;SCV000053493 45850 SKI NM_003036.3:c.101G>A NP_003027.1:p.Gly34Asp NM_003036.3:c.101G>A:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2015-02-01 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;24736733 de novo;unknown GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01;0000-00-00 1 2160306 G T 2160306 2160306 + Variant 39783 RCV000033005 SCV000056784 48382 SKI NM_003036.3:c.101G>T NP_003027.1:p.Gly34Val NM_003036.3:c.101G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-02-01 OMIM OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23103230;24736733 unknown GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01 1 2160308 C T 2160308 2160308 + Variant 39786 RCV000033008 SCV000266524;SCV000056787 48385 SKI NM_003036.3:c.103C>T NP_003027.1:p.Pro35Ser NM_003036.3:c.103C>T:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2015-02-01 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230;24736733 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01;0000-00-00 1 2160309 C A 2160309 2160309 + Variant 39785 RCV000033007 SCV000056786 48384 SKI NM_003036.3:c.104C>A NP_003027.1:p.Pro35Gln NM_003036.3:c.104C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-11-02 OMIM OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23103230 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02 -1 2160309 C G 2160309 2160309 + Variant 409977 RCV000475694 SCV000597058;SCV000550383 390987 SKI NM_003036.3:c.104C>G NP_003027.1:p.Pro35Arg NM_003036.3:c.104C>G:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely pathogenic 0 1 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-09-23 Invitae,;Genetic Services Laboratory, University of Chicago Invitae,;Genetic Services Laboratory, University of Chicago Shprintzen-Goldberg syndrome;Shprintzen-Goldberg syndrome 20301454;23023332;23103230;25741868 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-23;2016-09-21 +1 2160309 C G 2160309 2160309 + Variant 409977 RCV000475694 SCV000597058;SCV000550383 390987 SKI NM_003036.3:c.104C>G NP_003027.1:p.Pro35Arg NM_003036.3:c.104C>G:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely pathogenic 0 1 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-09-23 Genetic Services Laboratory, University of Chicago;Invitae Invitae;Genetic Services Laboratory, University of Chicago Shprintzen-Goldberg syndrome;Shprintzen-Goldberg syndrome 20301454;23023332;23103230;25741868 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-23;2016-09-21 1 2160310 G A 2160310 2160310 + Variant 386838 RCV000437914 SCV000528633 364811 SKI NM_003036.3:c.105G>A NP_003027.1:p.Pro35= NM_003036.3:c.105G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-06-22 +1 2160321 C T 2160321 2160321 + Variant 463393 RCV000557750 SCV000637274 447643 SKI NM_003036.3:c.116C>T NP_003027.1:p.Ser39Leu NM_003036.3:c.116C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-23 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-23 +1 2160334 G A 2160334 2160334 + Variant 463395 RCV000551618 SCV000637279 447644 SKI NM_003036.3:c.129G>A NP_003027.1:p.Ala43= NM_003036.3:c.129G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-28 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-28 1 2160343 C T 2160343 2160343 + Variant 213665 RCV000198300 SCV000250648 209445 SKI NM_003036.3:c.138C>T NP_003027.1:p.Ala46= NM_003036.3:c.138C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-01-06 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-01-06 1 2160347 A C 2160347 2160347 + Variant 432531 RCV000498045 SCV000590265 425338 SKI NM_003036.3:c.142A>C NP_003027.1:p.Lys48Gln NM_003036.3:c.142A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-05 +1 2160347 A C 2160347 2160347 + Variant 432531 RCV000557338 SCV000637280 425338 SKI NM_003036.3:c.142A>C NP_003027.1:p.Lys48Gln NM_003036.3:c.142A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-06 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-06 1 2160352 G A 2160352 2160352 + Variant 385331 RCV000445172 SCV000526570 364907 SKI NM_003036.3:c.147G>A NP_003027.1:p.Lys49= NM_003036.3:c.147G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-04-06 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-04-06 +1 2160388 G C 2160388 2160388 + Variant 463397 RCV000527350 SCV000637286 447807 SKI NM_003036.3:c.183G>C NP_003027.1:p.Pro61= NM_003036.3:c.183G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-10 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-10 1 2160390 C G 2160390 2160390 + Variant 139113 RCV000128047 SCV000269830;SCV000171638;SCV000309357;SCV000605112 142816 SKI NM_003036.3:c.185C>G NP_003027.1:p.Ala62Gly NM_003036.3:c.185C>G:missense variant Benign benign;benign;benign;benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2017-06-05 ARUP Laboratories, Molecular Genetics and Genomics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;Not specified;NOT SPECIFIED 24033266;25741868 germline MedGen:CN169374 2014-05-16;2015-02-20;0000-00-00;2017-06-05 -1 2160394 G GGTGCCC 2160396 2160401 + Variant 409976 RCV000467436 SCV000550382 391069 SKI NM_003036.3:c.191_196dupTGCCCG NP_003027.1:p.Pro65_Ala66insValPro Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-11 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-11 -1 2160421 C T 2160421 2160421 + Variant 193249 RCV000204079 SCV000261590 190413 SKI NM_003036.3:c.216C>T NP_003027.1:p.Pro72= NM_003036.3:c.216C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-19 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-19 +1 2160394 G GGTGCCC 2160396 2160401 + Variant 409976 RCV000467436 SCV000550382 391069 SKI NM_003036.3:c.191_196dupTGCCCG NP_003027.1:p.Pro65_Ala66insValPro Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-11 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-11 +1 2160421 C T 2160421 2160421 + Variant 193249 RCV000204079 SCV000261590 190413 SKI NM_003036.3:c.216C>T NP_003027.1:p.Pro72= NM_003036.3:c.216C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-10 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-10 1 2160421 C T 2160421 2160421 + Variant 193249 RCV000225703 SCV000224394;SCV000605120;SCV000250664;SCV000309360 190413 SKI NM_003036.3:c.216C>T NP_003027.1:p.Pro72= NM_003036.3:c.216C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;benign;likely benign;likely benign 0 0 1 2 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2017-05-05 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2015-06-08;2015-03-02;0000-00-00;2017-05-05 1 2160421 C T 2160421 2160421 + Variant 193249 RCV000242995 SCV000319962 190413 SKI NM_003036.3:c.216C>T NP_003027.1:p.Pro72= NM_003036.3:c.216C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-08-08 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-08-08 1 2160444 A AGCC 2160454 2160456 + Variant 264471 RCV000250462 SCV000320439 257939 SKI NM_003036.3:c.249_251dupGCC NP_003027.1:p.Pro84_Val85insPro NM_003036.3:c.249_251dupGCC:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-11-10 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-11-10 -1 2160453 C T 2160453 2160453 + Variant 409973 RCV000461038 SCV000550378 391061 SKI NM_003036.3:c.248C>T NP_003027.1:p.Pro83Leu NM_003036.3:c.248C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-08 +1 2160453 C T 2160453 2160453 + Variant 409973 RCV000461038 SCV000550378 391061 SKI NM_003036.3:c.248C>T NP_003027.1:p.Pro83Leu NM_003036.3:c.248C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-08 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-08 1 2160484 GTCCGACCGC G 2160488 2160496 + Variant 37263 RCV000030821 SCV000053496;SCV000266526 45853 SKI NM_003036.3:c.283_291delGACCGCTCC NP_003027.1:p.Asp95_Ser97del NM_003036.3:c.283_291delGACCGCTCC:inframe_variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2012-11-01 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-01;0000-00-00 1 2160484 GTCCGACCGCTCC G 2160485 2160496 + Variant 39784 RCV000033006 SCV000056785 48383 SKI NM_003036.3:c.280_291delTCCGACCGCTCC NP_003027.1:p.Ser94_Ser97del NM_003036.3:c.280_291delTCCGACCGCTCC:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-11-02 OMIM OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23103230 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02 1 2160499 C T 2160499 2160499 + Variant 213681 RCV000198732 SCV000309361 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 2160499 C T 2160499 2160499 + Variant 213681 RCV000254475 SCV000319836 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-08-11 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-08-11 -1 2160499 C T 2160499 2160499 + Variant 213681 RCV000467477 SCV000560924 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-20 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-20 +1 2160499 C T 2160499 2160499 + Variant 213681 RCV000467477 SCV000560924 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-14 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-14 1 2160516 T C 2160516 2160516 + Variant 264417 RCV000246817 SCV000320341 257941 SKI NM_003036.3:c.311T>C NP_003027.1:p.Val104Ala NM_003036.3:c.311T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-09-17 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-09-17 1 2160517 A T 2160517 2160517 + Variant 227947 RCV000215560 SCV000531770;SCV000270847 228355 SKI NM_003036.3:c.312A>T NP_003027.1:p.Val104= NM_003036.3:c.312A>T:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-21 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-08-11;2016-09-21 +1 2160517 A T 2160517 2160517 + Variant 227947 RCV000543423 SCV000637299 228355 SKI NM_003036.3:c.312A>T NP_003027.1:p.Val104= NM_003036.3:c.312A>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-18 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-18 1 2160547 G T 2160547 2160547 + Variant 390742 RCV000418308 SCV000533655 364910 SKI NM_003036.3:c.342G>T NP_003027.1:p.Val114= NM_003036.3:c.342G>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-16 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-16 1 2160552 G A 2160552 2160552 + Variant 37258 RCV000030816 SCV000266519;SCV000053491 45848 SKI NM_003036.3:c.347G>A NP_003027.1:p.Gly116Glu NM_003036.3:c.347G>A:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2012-11-01 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-01;0000-00-00 1 2160554 G C 2160554 2160554 + Variant 224868 RCV000210472 SCV000266521 226717 SKI NM_003036.3:c.349G>C NP_003027.1:p.Gly117Arg NM_003036.3:c.349G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome 20301454;23023332 de novo GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 0000-00-00 -1 2160554 G C 2160554 2160554 + Variant 224868 RCV000498943 SCV000589671 226717 SKI NM_003036.3:c.349G>C NP_003027.1:p.Gly117Arg NM_003036.3:c.349G>C:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-02 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2017-06-02 +1 2160554 G C 2160554 2160554 + Variant 224868 RCV000498943 SCV000589671 226717 SKI NM_003036.3:c.349G>C NP_003027.1:p.Gly117Arg NM_003036.3:c.349G>C:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-02 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2017-06-02 1 2160557 G A 2160557 2160557 + Variant 222819 RCV000208203 SCV000264224 224190 SKI NM_003036.3:c.352G>A NP_003027.1:p.Glu118Lys NM_003036.3:c.352G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-10-22 Blueprint Genetics Blueprint Genetics Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-10-22 1 2160565 C T 2160565 2160565 + Variant 213682 RCV000200253 SCV000250666;SCV000605119 209448 SKI NM_003036.3:c.360C>T NP_003027.1:p.Arg120= NM_003036.3:c.360C>T:synonymous variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2017-03-16 ARUP Laboratories, Molecular Genetics and Genomics;GeneDx GeneDx;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified germline MedGen:CN169374 2015-05-06;2017-03-16 -1 2160565 C T 2160565 2160565 + Variant 213682 RCV000461600 SCV000560926 209448 SKI NM_003036.3:c.360C>T NP_003027.1:p.Arg120= NM_003036.3:c.360C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-08 +1 2160565 C T 2160565 2160565 + Variant 213682 RCV000461600 SCV000560926 209448 SKI NM_003036.3:c.360C>T NP_003027.1:p.Arg120= NM_003036.3:c.360C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-03 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-03 1 2160598 G A 2160598 2160598 + Variant 264423 RCV000254423 SCV000320354 257943 SKI NM_003036.3:c.393G>A NP_003027.1:p.Leu131= NM_003036.3:c.393G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-10-04 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-10-04 +1 2160604 C T 2160604 2160604 + Variant 463408 RCV000557967 SCV000637300 447808 SKI NM_003036.3:c.399C>T NP_003027.1:p.Asp133= NM_003036.3:c.399C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-07 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-07 1 2160622 C T 2160622 2160622 + Variant 213683 RCV000196335 SCV000250667;SCV000309362 209449 SKI NM_003036.3:c.417C>T NP_003027.1:p.Ile139= NM_003036.3:c.417C>T:synonymous variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2014-12-02 PreventionGenetics;GeneDx GeneDx;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-12-02;0000-00-00 -1 2160622 C T 2160622 2160622 + Variant 213683 RCV000234780 SCV000287840 209449 SKI NM_003036.3:c.417C>T NP_003027.1:p.Ile139= NM_003036.3:c.417C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-08 +1 2160622 C T 2160622 2160622 + Variant 213683 RCV000234780 SCV000287840 209449 SKI NM_003036.3:c.417C>T NP_003027.1:p.Ile139= NM_003036.3:c.417C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-27 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-27 1 2160640 G GCTC 2160641 2160642 + Variant 440270 RCV000506250 SCV000605118 433916 SKI NM_003036.3:c.436_437insCTC NP_003027.1:p.Glu145_Leu146insPro Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-15 ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories, Molecular Genetics and Genomics not specified germline MedGen:CN169374 2017-03-15 1 2160661 C T 2160661 2160661 + Variant 139111 RCV000128045 SCV000171636;SCV000309363 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2014-05-19 PreventionGenetics;GeneDx GeneDx;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-05-19;0000-00-00 -1 2160661 C T 2160661 2160661 + Variant 139111 RCV000228536 SCV000287841 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-25 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-25 +1 2160661 C T 2160661 2160661 + Variant 139111 RCV000228536 SCV000287841 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-26 1 2160661 C T 2160661 2160661 + Variant 139111 RCV000245385 SCV000319402 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-02-05 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-02-05 1 2160669 C G 2160669 2160669 + Variant 373594 RCV000413541 SCV000492202 359313 SKI NM_003036.3:c.464C>G NP_003027.1:p.Ala155Gly NM_003036.3:c.464C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-29 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-29 -1 2160669 C G 2160669 2160669 + Variant 373594 RCV000461900 SCV000550384 359313 SKI NM_003036.3:c.464C>G NP_003027.1:p.Ala155Gly NM_003036.3:c.464C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-05-22 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-22 -1 2160676 G A 2160676 2160676 + Variant 239478 RCV000232451 SCV000287842 238211 SKI NM_003036.3:c.471G>A NP_003027.1:p.Gln157= NM_003036.3:c.471G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-03-27 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-03-27 +1 2160669 C G 2160669 2160669 + Variant 373594 RCV000461900 SCV000550384 359313 SKI NM_003036.3:c.464C>G NP_003027.1:p.Ala155Gly NM_003036.3:c.464C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-24 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-24 +1 2160676 G A 2160676 2160676 + Variant 239478 RCV000232451 SCV000287842 238211 SKI NM_003036.3:c.471G>A NP_003027.1:p.Gln157= NM_003036.3:c.471G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-03-27 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-03-27 1 2160676 G A 2160676 2160676 + Variant 239478 RCV000247169 SCV000309364 238211 SKI NM_003036.3:c.471G>A NP_003027.1:p.Gln157= NM_003036.3:c.471G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 -1 2160692 G A 2160692 2160692 + Variant 239479 RCV000234052 SCV000287843 238212 SKI NM_003036.3:c.487G>A NP_003027.1:p.Val163Ile NM_003036.3:c.487G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-12 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-01-12 +1 2160692 G A 2160692 2160692 + Variant 239479 RCV000234052 SCV000287843 238212 SKI NM_003036.3:c.487G>A NP_003027.1:p.Val163Ile NM_003036.3:c.487G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-12 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-01-12 1 2160700 C T 2160700 2160700 + Variant 258901 RCV000250311 SCV000309365 249732 SKI NM_003036.3:c.495C>T NP_003027.1:p.Gly165= NM_003036.3:c.495C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 -1 2160704 CT GG 2160704 2160705 + Variant 213703 RCV000200337 SCV000250689 209450 SKI NM_003036.3:c.499_500delCTinsGG NP_003027.1:p.Leu167Gly NM_003036.3:c.499_500delCTinsGG:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-08 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-08-08 +1 2160704 CT GG 2160704 2160705 + Variant 213703 RCV000200337 SCV000250689 209450 SKI NM_003036.3:c.499_500delCTinsGG NP_003027.1:p.Leu167Gly NM_003036.3:c.499_500delCTinsGG:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-08 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-08-08 +1 2160716 G A 2160716 2160716 + Variant 450852 RCV000519513 SCV000619474 442725 SKI NM_003036.3:c.511G>A NP_003027.1:p.Ala171Thr NM_003036.3:c.511G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-25 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-07-25 1 2160744 C T 2160744 2160744 + Variant 213684 RCV000198523 SCV000250668 209451 SKI NM_003036.3:c.539C>T NP_003027.1:p.Thr180Met NM_003036.3:c.539C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-04-07 1 2160830 C A 2160830 2160830 + Variant 264172 RCV000242214 SCV000319905 257942 SKI NM_003036.3:c.625C>A NP_003027.1:p.Leu209Met NM_003036.3:c.625C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-07-24 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-07-24 1 2160845 A G 2160845 2160845 + Variant 213685 RCV000200824 SCV000250669 209452 SKI NM_003036.3:c.640A>G NP_003027.1:p.Ser214Gly NM_003036.3:c.640A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-21 +1 2160845 A G 2160845 2160845 + Variant 213685 RCV000551275 SCV000637302 209452 SKI NM_003036.3:c.640A>G NP_003027.1:p.Ser214Gly NM_003036.3:c.640A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-08 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-08 1 2160907 C G 2160907 2160907 + Variant 388701 RCV000441081 SCV000531061 364813 SKI NM_003036.3:c.702C>G NP_003027.1:p.Pro234= NM_003036.3:c.702C>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-08-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-08-17 1 2160931 C T 2160931 2160931 + Variant 381375 RCV000438601 SCV000520593 364674 SKI NM_003036.3:c.726C>T NP_003027.1:p.Ala242= NM_003036.3:c.726C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-11-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-11-05 1 2160941 C T 2160941 2160941 + Variant 424243 RCV000484316 SCV000574033 405059 SKI NM_003036.3:c.736C>T NP_003027.1:p.Gln246Ter NM_003036.3:c.736C>T:nonsense Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-13 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-13 1 2160973 G A 2160973 2160973 + Variant 381998 RCV000435128 SCV000521746 364823 SKI NM_003036.3:c.768G>A NP_003027.1:p.Pro256= NM_003036.3:c.768G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-12-02 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-12-02 1 2161003 C T 2161003 2161003 + Variant 193248 RCV000225717 SCV000250645;SCV000309366;SCV000224393 190412 SKI NM_003036.3:c.798C>T NP_003027.1:p.Ala266= NM_003036.3:c.798C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;benign;likely benign 0 0 1 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2014-12-19 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;PreventionGenetics not specified;not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-12-19;2014-09-04;0000-00-00 1 2161003 C T 2161003 2161003 + Variant 193248 RCV000243648 SCV000319450 190412 SKI NM_003036.3:c.798C>T NP_003027.1:p.Ala266= NM_003036.3:c.798C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-03-06 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-03-06 -1 2161003 C T 2161003 2161003 + Variant 193248 RCV000465929 SCV000560938 190412 SKI NM_003036.3:c.798C>T NP_003027.1:p.Ala266= NM_003036.3:c.798C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-06-13 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-13 +1 2161003 C T 2161003 2161003 + Variant 193248 RCV000465929 SCV000560938 190412 SKI NM_003036.3:c.798C>T NP_003027.1:p.Ala266= NM_003036.3:c.798C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-04-03 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-03 1 2161004 C T 2161004 2161004 + Variant 213663 RCV000200723 SCV000250646 209453 SKI NM_003036.3:c.799C>T NP_003027.1:p.Leu267= NM_003036.3:c.799C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-05-18 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-05-18 -1 2161004 C T 2161004 2161004 + Variant 213663 RCV000228953 SCV000287844 209453 SKI NM_003036.3:c.799C>T NP_003027.1:p.Leu267= NM_003036.3:c.799C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-26 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-26 +1 2161004 C T 2161004 2161004 + Variant 213663 RCV000228953 SCV000287844 209453 SKI NM_003036.3:c.799C>T NP_003027.1:p.Leu267= NM_003036.3:c.799C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-02 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-02 1 2161049 C A 2161049 2161049 + Variant 264492 RCV000251439 SCV000320468 257944 SKI NM_003036.3:c.844C>A NP_003027.1:p.Arg282= NM_003036.3:c.844C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-11-06 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-11-06 1 2161050 G A 2161050 2161050 + Variant 393089 RCV000421845 SCV000536449 364679 SKI NM_003036.3:c.845G>A NP_003027.1:p.Arg282Gln NM_003036.3:c.845G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-20 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-20 1 2161098 C G 2161098 2161098 + Variant 436729 RCV000502689 SCV000597059 427715 SKI NM_003036.3:c.893C>G NP_003027.1:p.Ala298Gly NM_003036.3:c.893C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-24 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-06-24 1 2161102 C T 2161102 2161102 + Variant 380753 RCV000417582 SCV000519151 364819 SKI NM_003036.3:c.897C>T NP_003027.1:p.Arg299= NM_003036.3:c.897C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-12-14 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-14 -1 2161102 C T 2161102 2161102 + Variant 380753 RCV000458602 SCV000560931 364819 SKI NM_003036.3:c.897C>T NP_003027.1:p.Arg299= NM_003036.3:c.897C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-04-18 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-04-18 +1 2161102 C T 2161102 2161102 + Variant 380753 RCV000458602 SCV000560931 364819 SKI NM_003036.3:c.897C>T NP_003027.1:p.Arg299= NM_003036.3:c.897C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-04-18 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-04-18 1 2161111 C T 2161111 2161111 + Variant 389154 RCV000442843 SCV000531605 364915 SKI NM_003036.3:c.906C>T NP_003027.1:p.Arg302= NM_003036.3:c.906C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-07 1 2161124 G A 2161124 2161124 + Variant 213686 RCV000196881 SCV000250670 209454 SKI NM_003036.3:c.919G>A NP_003027.1:p.Val307Met NM_003036.3:c.919G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-04-17 1 2161143 A G 2161143 2161143 + Variant 213687 RCV000199076 SCV000250671 209455 SKI NM_003036.3:c.938A>G NP_003027.1:p.Tyr313Cys NM_003036.3:c.938A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-03-02 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-03-02 1 2161153 G A 2161153 2161153 + Variant 213664 RCV000196098 SCV000250647 209456 SKI NM_003036.3:c.948G>A NP_003027.1:p.Lys316= NM_003036.3:c.948G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2014-08-02 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-08-02 -1 2161153 G A 2161153 2161153 + Variant 213664 RCV000231718 SCV000287845 209456 SKI NM_003036.3:c.948G>A NP_003027.1:p.Lys316= NM_003036.3:c.948G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-01 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-07-01 +1 2161153 G A 2161153 2161153 + Variant 213664 RCV000231718 SCV000287845 209456 SKI NM_003036.3:c.948G>A NP_003027.1:p.Lys316= NM_003036.3:c.948G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-01 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-07-01 1 2161169 C T 2161169 2161169 + Variant 264199 RCV000252076 SCV000319953 257945 SKI NM_003036.3:c.964C>T NP_003027.1:p.Pro322Ser NM_003036.3:c.964C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-08-14 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-08-14 1 2234410 A G 2234410 2234410 + Variant 289941 RCV000284270 SCV000344401;SCV000531468 274178 SKI NM_003036.3:c.970-7A>G NM_003036.3:c.970-7A>G:intron variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-09-02 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2016-08-26;2016-09-02 1 2234447 C T 2234447 2234447 + Variant 213688 RCV000198950 SCV000250674 209457 SKI NM_003036.3:c.1000C>T NP_003027.1:p.Pro334Ser NM_003036.3:c.1000C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2014-05-29 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-05-29 +1 2234447 C T 2234447 2234447 + Variant 213688 RCV000539809 SCV000637270 209457 SKI NM_003036.3:c.1000C>T NP_003027.1:p.Pro334Ser NM_003036.3:c.1000C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-27 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-27 1 2234452 A G 2234452 2234452 + Variant 392801 RCV000420643 SCV000536128 364935 SKI NM_003036.3:c.1005A>G NP_003027.1:p.Lys335= NM_003036.3:c.1005A>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-17 1 2234480 G A 2234480 2234480 + Variant 213666 RCV000200606 SCV000250649 209458 SKI NM_003036.3:c.1033G>A NP_003027.1:p.Ala345Thr NM_003036.3:c.1033G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-28 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-28 -1 2234480 G A 2234480 2234480 + Variant 213666 RCV000474882 SCV000550374 209458 SKI NM_003036.3:c.1033G>A NP_003027.1:p.Ala345Thr NM_003036.3:c.1033G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-18 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-18 +1 2234480 G A 2234480 2234480 + Variant 213666 RCV000474882 SCV000550374 209458 SKI NM_003036.3:c.1033G>A NP_003027.1:p.Ala345Thr NM_003036.3:c.1033G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-12 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-12 1 2234484 CT C 2234486 2234486 + Variant 432707 RCV000498739 SCV000590461 425341 SKI NM_003036.3:c.1039delT NP_003027.1:p.Ser347Profs NM_003036.3:c.1039delT:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-12 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-12 1 2234488 C T 2234488 2234488 + Variant 384269 RCV000417667 SCV000524999 364878 SKI NM_003036.3:c.1041C>T NP_003027.1:p.Ser347= NM_003036.3:c.1041C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-02-26 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-02-26 1 2234515 G A 2234515 2234515 + Variant 389348 RCV000436780 SCV000531839 364937 SKI NM_003036.3:c.1068G>A NP_003027.1:p.Leu356= NM_003036.3:c.1068G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-13 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-13 +1 2234516 C T 2234516 2234516 + Variant 463392 RCV000532859 SCV000637272 447787 SKI NM_003036.3:c.1069C>T NP_003027.1:p.Arg357Trp NM_003036.3:c.1069C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-30 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-30 1 2234517 G A 2234517 2234517 + Variant 213689 RCV000195711 SCV000250675 209459 SKI NM_003036.3:c.1070G>A NP_003027.1:p.Arg357Gln NM_003036.3:c.1070G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-24 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-24 +1 2234517 G A 2234517 2234517 + Variant 213689 RCV000542904 SCV000637273 209459 SKI NM_003036.3:c.1070G>A NP_003027.1:p.Arg357Gln NM_003036.3:c.1070G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-26 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-26 1 2234528 G A 2234528 2234528 + Variant 222820 RCV000208423 SCV000264225 224191 SKI NM_003036.3:c.1081G>A NP_003027.1:p.Gly361Ser NM_003036.3:c.1081G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-07-01 Blueprint Genetics Blueprint Genetics not specified;not specified germline MedGen:CN169374 2015-07-01 1 2234718 C T 2234718 2234718 + Variant 390923 RCV000443858 SCV000533875 364886 SKI NM_003036.3:c.1096-6C>T NM_003036.3:c.1096-6C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-28 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-28 -1 2234745 C T 2234745 2234745 + Variant 409970 RCV000465525 SCV000550373 391067 SKI NM_003036.3:c.1117C>T NP_003027.1:p.Arg373Cys NM_003036.3:c.1117C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-16 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-16 -1 2234752 G A 2234752 2234752 + Variant 444150 RCV000513628 SCV000608451 437790 SKI NM_003036.3:c.1124G>A NP_003027.1:p.Arg375His NM_003036.3:c.1124G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-30 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-06-30 +1 2234726 C G 2234726 2234726 + Variant 451982 RCV000522318 SCV000620752 442734 SKI NM_003036.3:c.1098C>G NP_003027.1:p.Ser366Arg NM_003036.3:c.1098C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-09-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-09-22 +1 2234737 T C 2234737 2234737 + Variant 449711 RCV000522336 SCV000618067 442735 SKI NM_003036.3:c.1109T>C NP_003027.1:p.Val370Ala NM_003036.3:c.1109T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-26 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-26 +1 2234745 C T 2234745 2234745 + Variant 409970 RCV000465525 SCV000550373 391067 SKI NM_003036.3:c.1117C>T NP_003027.1:p.Arg373Cys NM_003036.3:c.1117C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-16 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-16 +1 2234752 G A 2234752 2234752 + Variant 444150 RCV000513628 SCV000608451 437790 SKI NM_003036.3:c.1124G>A NP_003027.1:p.Arg375His NM_003036.3:c.1124G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-30 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-06-30 1 2234767 G A 2234767 2234767 + Variant 213690 RCV000197996 SCV000250676 209461 SKI NM_003036.3:c.1139G>A NP_003027.1:p.Arg380Gln NM_003036.3:c.1139G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2014-06-16 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-06-16 1 2234790 G A 2234790 2234790 + Variant 213667 RCV000197343 SCV000250650 209462 SKI NM_003036.3:c.1162G>A NP_003027.1:p.Ala388Thr NM_003036.3:c.1162G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-29 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-12-29 1 2234791 C T 2234791 2234791 + Variant 213668 RCV000198871 SCV000605116;SCV000250651;SCV000309348 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-08-19 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;GeneDx GeneDx;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2016-08-19;0000-00-00;2016-05-08 -1 2234791 C T 2234791 2234791 + Variant 213668 RCV000204037 SCV000261993 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-12-29 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-29 -1 2234791 C T 2234791 2234791 + Variant 213668 RCV000436746 SCV000511006 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-26 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-01-26-06:00 -1 2234792 G A 2234792 2234792 + Variant 415896 RCV000463122 SCV000560929 391070 SKI NM_003036.3:c.1164G>A NP_003027.1:p.Ala388= NM_003036.3:c.1164G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-13 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-13 +1 2234791 C T 2234791 2234791 + Variant 213668 RCV000204037 SCV000261993 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-20 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-20 +1 2234791 C T 2234791 2234791 + Variant 213668 RCV000436746 SCV000511006 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-26 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-01-26 +1 2234792 G A 2234792 2234792 + Variant 415896 RCV000463122 SCV000560929 391070 SKI NM_003036.3:c.1164G>A NP_003027.1:p.Ala388= NM_003036.3:c.1164G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-13 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-13 1 2234811 C T 2234811 2234811 + Variant 213691 RCV000198841 SCV000250677 209464 SKI NM_003036.3:c.1183C>T NP_003027.1:p.Pro395Ser NM_003036.3:c.1183C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-03-02 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-03-02 1 2234816 C T 2234816 2234816 + Variant 392508 RCV000422024 SCV000535788 364903 SKI NM_003036.3:c.1188C>T NP_003027.1:p.His396= NM_003036.3:c.1188C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-11 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-11 +1 2234817 C T 2234817 2234817 + Variant 463394 RCV000531370 SCV000637275 447833 SKI NM_003036.3:c.1189C>T NP_003027.1:p.Leu397Phe NM_003036.3:c.1189C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-01 1 2234824 C T 2234824 2234824 + Variant 213692 RCV000195594 SCV000309349;SCV000250678 209465 SKI NM_003036.3:c.1196C>T NP_003027.1:p.Ala399Val NM_003036.3:c.1196C>T:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-08-24 PreventionGenetics;GeneDx GeneDx;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2016-08-24;0000-00-00 -1 2234824 C T 2234824 2234824 + Variant 213692 RCV000227742 SCV000287832 209465 SKI NM_003036.3:c.1196C>T NP_003027.1:p.Ala399Val NM_003036.3:c.1196C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-05-05 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-05 +1 2234824 C T 2234824 2234824 + Variant 213692 RCV000227742 SCV000678208;SCV000287832 209465 SKI NM_003036.3:c.1196C>T NP_003027.1:p.Ala399Val NM_003036.3:c.1196C>T:missense variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2017-08-01 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago;Invitae Invitae;Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago Shprintzen-Goldberg syndrome 20301454;25741868;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-29;2017-08-01 +1 2234824 C T 2234824 2234824 + Variant 213692 RCV000514089 SCV000609855 209465 SKI NM_003036.3:c.1196C>T NP_003027.1:p.Ala399Val NM_003036.3:c.1196C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-04 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-05-04 1 2234825 C A 2234825 2234825 + Variant 386213 RCV000438909 SCV000527766 364718 SKI NM_003036.3:c.1197C>A NP_003027.1:p.Ala399= NM_003036.3:c.1197C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-05-18 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-18 -1 2234833 G A 2234833 2234833 + Variant 409972 RCV000466620 SCV000550376 390988 SKI NM_003036.3:c.1205G>A NP_003027.1:p.Arg402Gln NM_003036.3:c.1205G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-03 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-03 +1 2234833 G A 2234833 2234833 + Variant 409972 RCV000466620 SCV000550376 390988 SKI NM_003036.3:c.1205G>A NP_003027.1:p.Arg402Gln NM_003036.3:c.1205G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-03 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-03 1 2234849 C T 2234849 2234849 + Variant 213669 RCV000200400 SCV000250652 209466 SKI NM_003036.3:c.1211+10C>T NM_003036.3:c.1211+10C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-02-04 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-02-04 -1 2234849 C T 2234849 2234849 + Variant 213669 RCV000470601 SCV000560930 209466 SKI NM_003036.3:c.1211+10C>T NM_003036.3:c.1211+10C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-05 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-05 +1 2234849 C T 2234849 2234849 + Variant 213669 RCV000470601 SCV000560930 209466 SKI NM_003036.3:c.1211+10C>T NM_003036.3:c.1211+10C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-03 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-03 1 2234850 G A 2234850 2234850 + Variant 213670 RCV000197227 SCV000250653 209467 SKI NM_003036.3:c.1211+11G>A NM_003036.3:c.1211+11G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2014-08-08 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-08-08 1 2234856 C T 2234856 2234856 + Variant 258899 RCV000248676 SCV000309350 249763 SKI NM_003036.3:c.1211+17C>T NM_003036.3:c.1211+17C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 -1 2234858 C T 2234858 2234858 + Variant 258900 RCV000251824 SCV000309351;SCV000514629 249764 SKI NM_003036.3:c.1211+19C>T NM_003036.3:c.1211+19C>T:intron variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-12-06 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-12-06 +1 2234858 C T 2234858 2234858 + Variant 258900 RCV000251824 SCV000309351;SCV000514629 249764 SKI NM_003036.3:c.1211+19C>T NM_003036.3:c.1211+19C>T:intron variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2017-07-08 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2017-07-08 1 2235271 C T 2235271 2235271 + Variant 213671 RCV000199440 SCV000309352;SCV000250654 209468 SKI NM_003036.3:c.1212-8C>T NM_003036.3:c.1212-8C>T:intron variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2015-04-15 PreventionGenetics;GeneDx GeneDx;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2015-04-15;0000-00-00 -1 2235271 C T 2235271 2235271 + Variant 213671 RCV000415889 SCV000493144 209468 SKI NM_003036.3:c.1212-8C>T NM_003036.3:c.1212-8C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-31 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2016-08-31 +1 2235271 C T 2235271 2235271 + Variant 213671 RCV000415889 SCV000493144 209468 SKI NM_003036.3:c.1212-8C>T NM_003036.3:c.1212-8C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-31 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2016-08-31 +1 2235271 C T 2235271 2235271 + Variant 213671 RCV000546304 SCV000637276 209468 SKI NM_003036.3:c.1212-8C>T NM_003036.3:c.1212-8C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-15 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-15 1 2235310 G A 2235310 2235310 + Variant 222821 RCV000208100 SCV000264226 224192 SKI NM_003036.3:c.1243G>A NP_003027.1:p.Val415Met NM_003036.3:c.1243G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-01 Blueprint Genetics Blueprint Genetics Marfanoid habitus germline MedGen:C1839796 2015-04-01 1 2235314 C T 2235314 2235314 + Variant 213693 RCV000197794 SCV000250679 209469 SKI NM_003036.3:c.1247C>T NP_003027.1:p.Ala416Val NM_003036.3:c.1247C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-02 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-02 1 2235321 C T 2235321 2235321 + Variant 392009 RCV000441456 SCV000535200 364908 SKI NM_003036.3:c.1254C>T NP_003027.1:p.Asn418= NM_003036.3:c.1254C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-21 -1 2235325 G A 2235325 2235325 + Variant 220793 RCV000205977 SCV000261638 221089 SKI NM_003036.3:c.1258G>A NP_003027.1:p.Ala420Thr NM_003036.3:c.1258G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-10-28 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-10-28 +1 2235321 C T 2235321 2235321 + Variant 392009 RCV000558563 SCV000637277 364908 SKI NM_003036.3:c.1254C>T NP_003027.1:p.Asn418= NM_003036.3:c.1254C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-20 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-20 +1 2235325 G A 2235325 2235325 + Variant 220793 RCV000205977 SCV000261638 221089 SKI NM_003036.3:c.1258G>A NP_003027.1:p.Ala420Thr NM_003036.3:c.1258G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-28 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-28 1 2235325 G A 2235325 2235325 + Variant 220793 RCV000507645 SCV000605111 221089 SKI NM_003036.3:c.1258G>A NP_003027.1:p.Ala420Thr NM_003036.3:c.1258G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-09-13 ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories, Molecular Genetics and Genomics not specified germline MedGen:CN169374 2016-09-13 1 2235330 C T 2235330 2235330 + Variant 263904 RCV000252813 SCV000319412 257947 SKI NM_003036.3:c.1263C>T NP_003027.1:p.Leu421= NM_003036.3:c.1263C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-02-04 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-02-04 -1 2235331 G A 2235331 2235331 + Variant 213707 RCV000196970 SCV000250693 209470 SKI NM_003036.3:c.1264G>A NP_003027.1:p.Ala422Thr NM_003036.3:c.1264G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2014-10-20 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-10-20 +1 2235331 G A 2235331 2235331 + Variant 213707 RCV000196970 SCV000250693 209470 SKI NM_003036.3:c.1264G>A NP_003027.1:p.Ala422Thr NM_003036.3:c.1264G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-11 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-11 1 2235336 G A 2235336 2235336 + Variant 387432 RCV000431107 SCV000529477 364724 SKI NM_003036.3:c.1269G>A NP_003027.1:p.Pro423= NM_003036.3:c.1269G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-12 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-12 1 2235338 C T 2235338 2235338 + Variant 423663 RCV000486959 SCV000573384 405082 SKI NM_003036.3:c.1271C>T NP_003027.1:p.Pro424Leu NM_003036.3:c.1271C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-23 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-23 +1 2235338 C T 2235338 2235338 + Variant 423663 RCV000537023 SCV000637278 405082 SKI NM_003036.3:c.1271C>T NP_003027.1:p.Pro424Leu NM_003036.3:c.1271C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-13 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-13 +1 2235361 A G 2235361 2235361 + Variant 449989 RCV000521311 SCV000618510 442736 SKI NM_003036.3:c.1294A>G NP_003027.1:p.Ser432Gly NM_003036.3:c.1294A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-01 1 2235368 C T 2235368 2235368 + Variant 213694 RCV000200090 SCV000250680 209471 SKI NM_003036.3:c.1301C>T NP_003027.1:p.Pro434Leu NM_003036.3:c.1301C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-03-09 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-03-09 1 2235376 G A 2235376 2235376 + Variant 263895 RCV000251995 SCV000319389 257946 SKI NM_003036.3:c.1309G>A NP_003027.1:p.Ala437Thr NM_003036.3:c.1309G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-10-29 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-10-29 -1 2235376 G A 2235376 2235376 + Variant 263895 RCV000474123 SCV000550377 257946 SKI NM_003036.3:c.1309G>A NP_003027.1:p.Ala437Thr NM_003036.3:c.1309G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-11 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-11 -1 2235378 C G 2235378 2235378 + Variant 227946 RCV000221218 SCV000514630;SCV000270846 228357 SKI NM_003036.3:c.1311C>G NP_003027.1:p.Ala437= NM_003036.3:c.1311C>G:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-21 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-08-11;2016-09-21 -1 2235378 C G 2235378 2235378 + Variant 227946 RCV000462719 SCV000560932 228357 SKI NM_003036.3:c.1311C>G NP_003027.1:p.Ala437= NM_003036.3:c.1311C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-09 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-09 +1 2235376 G A 2235376 2235376 + Variant 263895 RCV000474123 SCV000550377 257946 SKI NM_003036.3:c.1309G>A NP_003027.1:p.Ala437Thr NM_003036.3:c.1309G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-17 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-02-17 +1 2235376 G A 2235376 2235376 + Variant 263895 RCV000520591 SCV000620001 257946 SKI NM_003036.3:c.1309G>A NP_003027.1:p.Ala437Thr NM_003036.3:c.1309G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-11 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-11 +1 2235378 C G 2235378 2235378 + Variant 227946 RCV000221218 SCV000514630;SCV000270846 228357 SKI NM_003036.3:c.1311C>G NP_003027.1:p.Ala437= NM_003036.3:c.1311C>G:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2017-08-15 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-08-11;2017-08-15 +1 2235378 C G 2235378 2235378 + Variant 227946 RCV000462719 SCV000560932 228357 SKI NM_003036.3:c.1311C>G NP_003027.1:p.Ala437= NM_003036.3:c.1311C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-30 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-30 1 2235378 C T 2235378 2235378 + Variant 139114 RCV000128048 SCV000309353;SCV000605110;SCV000171639;SCV000336133 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign benign;benign;benign;benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-06 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx GeneDx;PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 2014-05-27;0000-00-00;2015-10-14;2016-01-06 -1 2235378 C T 2235378 2235378 + Variant 139114 RCV000229389 SCV000287833 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-10 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-10 +1 2235378 C T 2235378 2235378 + Variant 139114 RCV000229389 SCV000287833 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-26 1 2235378 C T 2235378 2235378 + Variant 139114 RCV000249261 SCV000319411 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-02-06 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-02-06 -1 2235382 G A 2235382 2235382 + Variant 409971 RCV000457275 SCV000550375 391083 SKI NM_003036.3:c.1315G>A NP_003027.1:p.Val439Ile NM_003036.3:c.1315G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-08 +1 2235382 G A 2235382 2235382 + Variant 409971 RCV000457275 SCV000550375 391083 SKI NM_003036.3:c.1315G>A NP_003027.1:p.Val439Ile NM_003036.3:c.1315G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-08 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-08 1 2235396 C T 2235396 2235396 + Variant 385791 RCV000429448 SCV000527181 364938 SKI NM_003036.3:c.1329C>T NP_003027.1:p.Pro443= NM_003036.3:c.1329C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-04-29 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-04-29 1 2235405 C T 2235405 2235405 + Variant 213672 RCV000195511 SCV000250655 209472 SKI NM_003036.3:c.1338C>T NP_003027.1:p.Leu446= NM_003036.3:c.1338C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-06-18 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-06-18 -1 2235451 C G 2235451 2235451 + Variant 409974 RCV000467693 SCV000550379 390989 SKI NM_003036.3:c.1384C>G NP_003027.1:p.Pro462Ala NM_003036.3:c.1384C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-01 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-04-01 +1 2235451 C G 2235451 2235451 + Variant 409974 RCV000467693 SCV000550379 390989 SKI NM_003036.3:c.1384C>G NP_003027.1:p.Pro462Ala NM_003036.3:c.1384C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-14 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-14 1 2235477 C T 2235477 2235477 + Variant 213673 RCV000197717 SCV000250656 209473 SKI NM_003036.3:c.1410C>T NP_003027.1:p.Pro470= NM_003036.3:c.1410C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-06-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-06-22 -1 2235477 C T 2235477 2235477 + Variant 213673 RCV000458443 SCV000560937 209473 SKI NM_003036.3:c.1410C>T NP_003027.1:p.Pro470= NM_003036.3:c.1410C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-11-13 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-13 +1 2235477 C T 2235477 2235477 + Variant 213673 RCV000458443 SCV000560937 209473 SKI NM_003036.3:c.1410C>T NP_003027.1:p.Pro470= NM_003036.3:c.1410C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-31 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-31 1 2235487 C G 2235487 2235487 + Variant 373583 RCV000413715 SCV000492188 359238 SKI NM_003036.3:c.1420C>G NP_003027.1:p.Pro474Ala NM_003036.3:c.1420C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-06 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-06 +1 2235488 C T 2235488 2235488 + Variant 451213 RCV000521240 SCV000619881 442737 SKI NM_003036.3:c.1421C>T NP_003027.1:p.Pro474Leu NM_003036.3:c.1421C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-08 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-08 +1 2235512 C T 2235512 2235512 + Variant 451641 RCV000519637 SCV000620364 442738 SKI NM_003036.3:c.1445C>T NP_003027.1:p.Ala482Val NM_003036.3:c.1445C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-29 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-29 +1 2235512 CG C 2235514 2235514 + Variant 450070 RCV000520789 SCV000618607 442739 SKI NM_003036.3:c.1447delG NP_003027.1:p.Glu483Argfs NM_003036.3:c.1447delG:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-27 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-27 1 2235513 G A 2235513 2235513 + Variant 139115 RCV000178187 SCV000171640;SCV000605115;SCV000309354;SCV000230202 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Benign benign;benign;benign;benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-08 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-05-29;2015-01-13;0000-00-00;2016-01-08 -1 2235513 G A 2235513 2235513 + Variant 139115 RCV000233299 SCV000287834 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-25 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-25 -1 2235513 G A 2235513 2235513 + Variant 139115 RCV000249175 SCV000319431 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-02-16 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-02-16 +1 2235513 G A 2235513 2235513 + Variant 139115 RCV000233299 SCV000287834 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-03 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-08-03 +1 2235513 G A 2235513 2235513 + Variant 139115 RCV000249175 SCV000319431 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-12-15 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2016-12-15 1 2235523 G A 2235523 2235523 + Variant 229252 RCV000218491 SCV000272435 228358 SKI NM_003036.3:c.1456G>A NP_003027.1:p.Val486Ile NM_003036.3:c.1456G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-08-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-08-11 +1 2235523 G A 2235523 2235523 + Variant 229252 RCV000535528 SCV000637281 228358 SKI NM_003036.3:c.1456G>A NP_003027.1:p.Val486Ile NM_003036.3:c.1456G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-18 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-18 1 2235737 T A 2235737 2235737 + Variant 373745 RCV000414146 SCV000492366 359326 SKI NM_003036.3:c.1480T>A NP_003027.1:p.Ser494Thr NM_003036.3:c.1480T>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-12 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-12 -1 2235737 T A 2235737 2235737 + Variant 373745 RCV000460773 SCV000550381 359326 SKI NM_003036.3:c.1480T>A NP_003027.1:p.Ser494Thr NM_003036.3:c.1480T>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-18 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-18 -1 2235762 C T 2235762 2235762 + Variant 377202 RCV000442707 SCV000511479 364080 SKI NM_003036.3:c.1505C>T NP_003027.1:p.Pro502Leu NM_003036.3:c.1505C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-21 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-11-21-06:00 +1 2235737 T A 2235737 2235737 + Variant 373745 RCV000460773 SCV000550381 359326 SKI NM_003036.3:c.1480T>A NP_003027.1:p.Ser494Thr NM_003036.3:c.1480T>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-18 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-18 +1 2235762 C T 2235762 2235762 + Variant 377202 RCV000442707 SCV000511479 364080 SKI NM_003036.3:c.1505C>T NP_003027.1:p.Pro502Leu NM_003036.3:c.1505C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-21 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2016-11-21 1 2235784 C T 2235784 2235784 + Variant 213674 RCV000199331 SCV000605117;SCV000250657;SCV000269828 209474 SKI NM_003036.3:c.1527C>T NP_003027.1:p.Ser509= NM_003036.3:c.1527C>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-12-19 ARUP Laboratories, Molecular Genetics and Genomics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;Not specified 24033266 germline MedGen:CN169374 2014-09-11;2015-02-20;2016-12-19 -1 2235784 C T 2235784 2235784 + Variant 213674 RCV000245139 SCV000319439 209474 SKI NM_003036.3:c.1527C>T NP_003027.1:p.Ser509= NM_003036.3:c.1527C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-02-24 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-02-24 +1 2235784 C T 2235784 2235784 + Variant 213674 RCV000245139 SCV000319439 209474 SKI NM_003036.3:c.1527C>T NP_003027.1:p.Ser509= NM_003036.3:c.1527C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-02-24 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 19112531;20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-02-24 +1 2235784 C T 2235784 2235784 + Variant 213674 RCV000550404 SCV000637282 209474 SKI NM_003036.3:c.1527C>T NP_003027.1:p.Ser509= NM_003036.3:c.1527C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-04-03 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-03 1 2235785 G A 2235785 2235785 + Variant 213695 RCV000195482 SCV000250681 209475 SKI NM_003036.3:c.1528G>A NP_003027.1:p.Ala510Thr NM_003036.3:c.1528G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-03-26 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-03-26 +1 2235805 G A 2235805 2235805 + Variant 463396 RCV000528551 SCV000637283 447788 SKI NM_003036.3:c.1548G>A NP_003027.1:p.Pro516= NM_003036.3:c.1548G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-26 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-26 1 2235812 C T 2235812 2235812 + Variant 213696 RCV000197672 SCV000250682 209476 SKI NM_003036.3:c.1555C>T NP_003027.1:p.Arg519Cys NM_003036.3:c.1555C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2014-09-11 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-09-11 1 2235813 G A 2235813 2235813 + Variant 213675 RCV000196080 SCV000250658 209477 SKI NM_003036.3:c.1556G>A NP_003027.1:p.Arg519His NM_003036.3:c.1556G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2014-12-04 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-12-04 1 2235825 C T 2235825 2235825 + Variant 180522 RCV000157499 SCV000207244 178441 SKI NM_003036.3:c.1568C>T NP_003027.1:p.Ser523Leu NM_003036.3:c.1568C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2014-10-06 Blueprint Genetics Blueprint Genetics Arterial dissection;Arterial dissection germline Human Phenotype Ontology:HP:0005294;MedGen:C0002949;MedGen:CN004695 2014-10-06 +1 2235825 C T 2235825 2235825 + Variant 180522 RCV000538872 SCV000637284 178441 SKI NM_003036.3:c.1568C>T NP_003027.1:p.Ser523Leu NM_003036.3:c.1568C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-07 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-07 1 2235830 G A 2235830 2235830 + Variant 213676 RCV000197599 SCV000250659 209478 SKI NM_003036.3:c.1573G>A NP_003027.1:p.Val525Ile NM_003036.3:c.1573G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-07-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-07-17 1 2235837 ATGC A 2235841 2235843 + Variant 213704 RCV000197075 SCV000250690 209479 SKI NM_003036.3:c.1584_1586delTGC NP_003027.1:p.Ala530del NM_003036.3:c.1584_1586delTGC:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-05-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-05-05 1 2235850 T C 2235850 2235850 + Variant 213677 RCV000199803 SCV000309355;SCV000250660 209480 SKI NM_003036.3:c.1593T>C NP_003027.1:p.Pro531= NM_003036.3:c.1593T>C:synonymous variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2015-07-01 PreventionGenetics;GeneDx GeneDx;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2015-07-01;0000-00-00 -1 2235850 T C 2235850 2235850 + Variant 213677 RCV000466338 SCV000560935 209480 SKI NM_003036.3:c.1593T>C NP_003027.1:p.Pro531= NM_003036.3:c.1593T>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-08 +1 2235850 T C 2235850 2235850 + Variant 213677 RCV000466338 SCV000560935 209480 SKI NM_003036.3:c.1593T>C NP_003027.1:p.Pro531= NM_003036.3:c.1593T>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-25 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-25 1 2235876 C T 2235876 2235876 + Variant 213697 RCV000199881 SCV000250683 209481 SKI NM_003036.3:c.1619C>T NP_003027.1:p.Ala540Val NM_003036.3:c.1619C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-22 -1 2235877 G A 2235877 2235877 + Variant 415898 RCV000456827 SCV000560934 390993 SKI NM_003036.3:c.1620G>A NP_003027.1:p.Ala540= NM_003036.3:c.1620G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-26 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-26 +1 2235876 C T 2235876 2235876 + Variant 213697 RCV000548962 SCV000637285 209481 SKI NM_003036.3:c.1619C>T NP_003027.1:p.Ala540Val NM_003036.3:c.1619C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-06 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-06 +1 2235877 G A 2235877 2235877 + Variant 415898 RCV000456827 SCV000560934 390993 SKI NM_003036.3:c.1620G>A NP_003027.1:p.Ala540= NM_003036.3:c.1620G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-26 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-26 1 2235889 C T 2235889 2235889 + Variant 213678 RCV000196639 SCV000250661 209482 SKI NM_003036.3:c.1632C>T NP_003027.1:p.His544= NM_003036.3:c.1632C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2014-07-31 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-07-31 1 2235957 T C 2235957 2235957 + Variant 426770 RCV000489520 SCV000577301 414774 SKI NM_003036.3:c.1700T>C NP_003027.1:p.Val567Ala NM_003036.3:c.1700T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-05 -1 2235991 C T 2235991 2235991 + Variant 415897 RCV000472195 SCV000560933 391073 SKI NM_003036.3:c.1734C>T NP_003027.1:p.Ser578= NM_003036.3:c.1734C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-05-15 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-15 +1 2235991 C T 2235991 2235991 + Variant 415897 RCV000472195 SCV000560933 391073 SKI NM_003036.3:c.1734C>T NP_003027.1:p.Ser578= NM_003036.3:c.1734C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-05-15 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-15 1 2235996 C T 2235996 2235996 + Variant 432018 RCV000498763 SCV000589685 425342 SKI NM_003036.3:c.1739C>T NP_003027.1:p.Ala580Val NM_003036.3:c.1739C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-16 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-16 -1 2236030 C T 2236030 2236030 + Variant 239476 RCV000227068 SCV000287835 238217 SKI NM_003036.3:c.1767+6C>T NM_003036.3:c.1767+6C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-21 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-21 +1 2236030 C T 2236030 2236030 + Variant 239476 RCV000227068 SCV000287835 238217 SKI NM_003036.3:c.1767+6C>T NM_003036.3:c.1767+6C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-21 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-21 1 2237477 G T 2237477 2237477 + Variant 393207 RCV000442849 SCV000536583 364914 SKI NM_003036.3:c.1786G>T NP_003027.1:p.Val596Leu NM_003036.3:c.1786G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-03 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-03 1 2237525 C T 2237525 2237525 + Variant 139116 RCV000179418 SCV000171641;SCV000309356;SCV000269829;SCV000231664 142819 SKI NM_003036.3:c.1834C>T NP_003027.1:p.Leu612= NM_003036.3:c.1834C>T:synonymous variant Benign benign;benign;benign;benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2015-06-08 PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics not specified;not specified;not specified;Not specified;NOT SPECIFIED 24033266;25741868 germline MedGen:CN169374 2014-05-29;2015-06-08;2015-02-20;0000-00-00 -1 2237525 C T 2237525 2237525 + Variant 139116 RCV000230962 SCV000287836 142819 SKI NM_003036.3:c.1834C>T NP_003027.1:p.Leu612= NM_003036.3:c.1834C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-15 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-15 +1 2237525 C T 2237525 2237525 + Variant 139116 RCV000230962 SCV000287836 142819 SKI NM_003036.3:c.1834C>T NP_003027.1:p.Leu612= NM_003036.3:c.1834C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-05 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-05 1 2237525 C T 2237525 2237525 + Variant 139116 RCV000243796 SCV000319390 142819 SKI NM_003036.3:c.1834C>T NP_003027.1:p.Leu612= NM_003036.3:c.1834C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-03-04 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-03-04 +1 2237539 C A 2237539 2237539 + Variant 463398 RCV000541947 SCV000637287 447852 SKI NM_003036.3:c.1848C>A NP_003027.1:p.Ile616= NM_003036.3:c.1848C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-15 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-15 +1 2237539 C G 2237539 2237539 + Variant 463399 RCV000552281 SCV000637288 447789 SKI NM_003036.3:c.1848C>G NP_003027.1:p.Ile616Met NM_003036.3:c.1848C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-02 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-02 1 2237542 G A 2237542 2237542 + Variant 198156 RCV000179419 SCV000231665 195317 SKI NM_003036.3:c.1851G>A NP_003027.1:p.Glu617= NM_003036.3:c.1851G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-04-02 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-04-02 -1 2237542 G A 2237542 2237542 + Variant 198156 RCV000473994 SCV000560922 195317 SKI NM_003036.3:c.1851G>A NP_003027.1:p.Glu617= NM_003036.3:c.1851G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-08 -1 2237551 C T 2237551 2237551 + Variant 415894 RCV000468377 SCV000560927 390971 SKI NM_003036.3:c.1860C>T NP_003027.1:p.Arg620= NM_003036.3:c.1860C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-24 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-24 +1 2237542 G A 2237542 2237542 + Variant 198156 RCV000473994 SCV000560922 195317 SKI NM_003036.3:c.1851G>A NP_003027.1:p.Glu617= NM_003036.3:c.1851G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-16 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-16 +1 2237551 C T 2237551 2237551 + Variant 415894 RCV000468377 SCV000560927 390971 SKI NM_003036.3:c.1860C>T NP_003027.1:p.Arg620= NM_003036.3:c.1860C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-24 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-24 1 2237554 C T 2237554 2237554 + Variant 384451 RCV000430401 SCV000525272 364920 SKI NM_003036.3:c.1863C>T NP_003027.1:p.Ala621= NM_003036.3:c.1863C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-01 1 2237561 GAGA G 2237568 2237570 + Variant 213705 RCV000198612 SCV000250691 209485 SKI NM_003036.3:c.1877_1879delAGA NP_003027.1:p.Lys626del NM_003036.3:c.1877_1879delAGA:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-05-06 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-05-06 1 2237568 A T 2237568 2237568 + Variant 213698 RCV000196715 SCV000250684 209484 SKI NM_003036.3:c.1877A>T NP_003027.1:p.Lys626Met NM_003036.3:c.1877A>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-04-21 -1 2237578 G A 2237578 2237578 + Variant 415893 RCV000476076 SCV000560925 391086 SKI NM_003036.3:c.1887G>A NP_003027.1:p.Glu629= NM_003036.3:c.1887G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-09 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-09 +1 2237578 G A 2237578 2237578 + Variant 415893 RCV000476076 SCV000560925 391086 SKI NM_003036.3:c.1887G>A NP_003027.1:p.Glu629= NM_003036.3:c.1887G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-09 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-09 1 2237581 C T 2237581 2237581 + Variant 198155 RCV000246302 SCV000231662;SCV000309358 195316 SKI NM_003036.3:c.1890C>T NP_003027.1:p.Ala630= NM_003036.3:c.1890C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2014-11-12 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-11-12;0000-00-00 +1 2237581 C T 2237581 2237581 + Variant 198155 RCV000525874 SCV000637289 195316 SKI NM_003036.3:c.1890C>T NP_003027.1:p.Ala630= NM_003036.3:c.1890C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-25 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-25 1 2237623 G A 2237623 2237623 + Variant 383505 RCV000419527 SCV000523917 364733 SKI NM_003036.3:c.1932G>A NP_003027.1:p.Ala644= NM_003036.3:c.1932G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-02-09 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-02-09 -1 2237662 C T 2237662 2237662 + Variant 239477 RCV000233767 SCV000287837 238218 SKI NM_003036.3:c.1971C>T NP_003027.1:p.Gly657= NM_003036.3:c.1971C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-12-25 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-25 +1 2237626 G T 2237626 2237626 + Variant 463400 RCV000540734 SCV000637290 447792 SKI NM_003036.3:c.1935G>T NP_003027.1:p.Arg645= NM_003036.3:c.1935G>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-21 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-21 +1 2237633 C G 2237633 2237633 + Variant 463401 RCV000555329 SCV000637291 447532 SKI NM_003036.3:c.1942C>G NP_003027.1:p.Arg648Gly NM_003036.3:c.1942C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-29 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-29 +1 2237658 C T 2237658 2237658 + Variant 463402 RCV000531234 SCV000637292 447682 SKI NM_003036.3:c.1967C>T NP_003027.1:p.Ala656Val NM_003036.3:c.1967C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-30 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-30 +1 2237662 C T 2237662 2237662 + Variant 239477 RCV000233767 SCV000287837 238218 SKI NM_003036.3:c.1971C>T NP_003027.1:p.Gly657= NM_003036.3:c.1971C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-12-25 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-25 1 2237665 C T 2237665 2237665 + Variant 139117 RCV000179417 SCV000231663;SCV000309359;SCV000171642 142820 SKI NM_003036.3:c.1974C>T NP_003027.1:p.Arg658= NM_003036.3:c.1974C>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2014-10-07 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics not specified;not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-06-05;2014-10-07;0000-00-00 -1 2237665 C T 2237665 2237665 + Variant 139117 RCV000227524 SCV000287838 142820 SKI NM_003036.3:c.1974C>T NP_003027.1:p.Arg658= NM_003036.3:c.1974C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-18 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-18 -1 2237674 C T 2237674 2237674 + Variant 415895 RCV000475416 SCV000560928 390995 SKI NM_003036.3:c.1983C>T NP_003027.1:p.Ala661= NM_003036.3:c.1983C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 +1 2237665 C T 2237665 2237665 + Variant 139117 RCV000227524 SCV000287838 142820 SKI NM_003036.3:c.1974C>T NP_003027.1:p.Arg658= NM_003036.3:c.1974C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-13 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-13 +1 2237667 T G 2237667 2237667 + Variant 449665 RCV000520058 SCV000617994 442740 SKI NM_003036.3:c.1976T>G NP_003027.1:p.Leu659Arg NM_003036.3:c.1976T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-30 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-30 +1 2237674 C T 2237674 2237674 + Variant 415895 RCV000475416 SCV000560928 390995 SKI NM_003036.3:c.1983C>T NP_003027.1:p.Ala661= NM_003036.3:c.1983C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-08 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 1 2238000 C T 2238000 2238000 + Variant 388616 RCV000444316 SCV000530961 364745 SKI NM_003036.3:c.1999-16C>T NM_003036.3:c.1999-16C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-08-12 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-08-12 +1 2238007 C G 2238007 2238007 + Variant 463403 RCV000546111 SCV000637293 447533 SKI NM_003036.3:c.1999-9C>G NM_003036.3:c.1999-9C>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-16 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-16 1 2238024 C G 2238024 2238024 + Variant 213699 RCV000198240 SCV000250685 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-22 -1 2238024 C G 2238024 2238024 + Variant 213699 RCV000230294 SCV000287839 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-25 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-25 -1 2238024 C G 2238024 2238024 + Variant 213699 RCV000243311 SCV000320452 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-10-13 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-10-13 +1 2238024 C G 2238024 2238024 + Variant 213699 RCV000230294 SCV000287839 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-28 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-28 +1 2238024 C G 2238024 2238024 + Variant 213699 RCV000243311 SCV000320452 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-10-13 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340;25519456 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-10-13 1 2238024 C T 2238024 2238024 + Variant 432935 RCV000498915 SCV000590713 425343 SKI NM_003036.3:c.2007C>T NP_003027.1:p.Asp669= NM_003036.3:c.2007C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-26 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-26 -1 2238026 T G 2238026 2238026 + Variant 409975 RCV000473086 SCV000550380 390973 SKI NM_003036.3:c.2009T>G NP_003027.1:p.Leu670Arg NM_003036.3:c.2009T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 -1 2238030 G A 2238030 2238030 + Variant 415892 RCV000460660 SCV000560923 391089 SKI NM_003036.3:c.2013G>A NP_003027.1:p.Gln671= NM_003036.3:c.2013G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-22 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-07-22 +1 2238026 T G 2238026 2238026 + Variant 409975 RCV000473086 SCV000550380 390973 SKI NM_003036.3:c.2009T>G NP_003027.1:p.Leu670Arg NM_003036.3:c.2009T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-08 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 +1 2238030 G A 2238030 2238030 + Variant 415892 RCV000460660 SCV000560923 391089 SKI NM_003036.3:c.2013G>A NP_003027.1:p.Gln671= NM_003036.3:c.2013G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-22 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-07-22 +1 2238045 C G 2238045 2238045 + Variant 463404 RCV000556095 SCV000637294 447795 SKI NM_003036.3:c.2028C>G NP_003027.1:p.His676Gln NM_003036.3:c.2028C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-05 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-05 +1 2238069 G T 2238069 2238069 + Variant 463405 RCV000530007 SCV000637295 447796 SKI NM_003036.3:c.2052G>T NP_003027.1:p.Leu684= NM_003036.3:c.2052G>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-02-13 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-02-13 1 2238073 G A 2238073 2238073 + Variant 213709 RCV000195941 SCV000250695 209487 SKI NM_003036.3:c.2056G>A NP_003027.1:p.Ala686Thr NM_003036.3:c.2056G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2014-12-01 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-12-01 +1 2238078 C A 2238078 2238078 + Variant 463406 RCV000544643 SCV000637296 447853 SKI NM_003036.3:c.2061C>A NP_003027.1:p.Asp687Glu NM_003036.3:c.2061C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-01 1 2238081 G C 2238081 2238081 + Variant 386021 RCV000425793 SCV000527527 364756 SKI NM_003036.3:c.2064G>C NP_003027.1:p.Leu688= NM_003036.3:c.2064G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-05-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-05 1 2238145 T C 2238145 2238145 + Variant 213710 RCV000196830 SCV000250696 209488 SKI NM_003036.3:c.2128T>C NP_003027.1:p.Trp710Arg NM_003036.3:c.2128T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-20 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-01-20 +1 2238157 C T 2238157 2238157 + Variant 451473 RCV000522009 SCV000620179 442741 SKI NM_003036.3:c.2140C>T NP_003027.1:p.Arg714Cys NM_003036.3:c.2140C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-16 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-16 1 2238158 G A 2238158 2238158 + Variant 213679 RCV000197481 SCV000250662 209489 SKI NM_003036.3:c.2141G>A NP_003027.1:p.Arg714His NM_003036.3:c.2141G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2014-07-23 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-07-23 1 2238170 C G 2238170 2238170 + Variant 213680 RCV000199684 SCV000250663 209490 SKI NM_003036.3:c.2153C>G NP_003027.1:p.Ala718Gly NM_003036.3:c.2153C>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2014-08-11 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-08-11 +1 2238182 G T 2238182 2238182 + Variant 463407 RCV000559446 SCV000637297 447797 SKI NM_003036.3:c.2165G>T NP_003027.1:p.Gly722Val NM_003036.3:c.2165G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-06 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-06 1 2238188 C T 2238188 2238188 + Variant 440269 RCV000507977 SCV000605114 433915 SKI NM_003036.3:c.2171C>T NP_003027.1:p.Ala724Val NM_003036.3:c.2171C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-04 ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories, Molecular Genetics and Genomics not specified germline MedGen:CN169374 2016-10-04 -1 2238191 A C 2238191 2238191 + Variant 213700 RCV000199766 SCV000250686 209491 SKI NM_003036.3:c.2174A>C NP_003027.1:p.Glu725Ala NM_003036.3:c.2174A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-27 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-04-27 +1 2238191 A C 2238191 2238191 + Variant 213700 RCV000199766 SCV000250686 209491 SKI NM_003036.3:c.2174A>C NP_003027.1:p.Glu725Ala NM_003036.3:c.2174A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-31 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-31 +1 2238191 A C 2238191 2238191 + Variant 213700 RCV000537625 SCV000637298 209491 SKI NM_003036.3:c.2174A>C NP_003027.1:p.Glu725Ala NM_003036.3:c.2174A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-14 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-14 1 2238200 C T 2238200 2238200 + Variant 213701 RCV000196525 SCV000250687 209492 SKI NM_003036.3:c.2183C>T NP_003027.1:p.Pro728Leu NM_003036.3:c.2183C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-03-08 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-03-08 1 2238201 G C 2238201 2238201 + Variant 386048 RCV000429161 SCV000527559 364924 SKI NM_003036.3:c.2184G>C NP_003027.1:p.Pro728= NM_003036.3:c.2184G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-29 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-29 -1 2238201 G C 2238201 2238201 + Variant 386048 RCV000474716 SCV000560936 364924 SKI NM_003036.3:c.2184G>C NP_003027.1:p.Pro728= NM_003036.3:c.2184G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-01 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-01 +1 2238201 G C 2238201 2238201 + Variant 386048 RCV000474716 SCV000560936 364924 SKI NM_003036.3:c.2184G>C NP_003027.1:p.Pro728= NM_003036.3:c.2184G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-01 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-01 1 2238204 GATT G 2238205 2238207 + Variant 222822 RCV000208246 SCV000264227 224193 SKI NM_003036.3:c.*1_*3delATT NM_003036.3:c.*1_*3delATT:3 prime UTR variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-06-01 Blueprint Genetics Blueprint Genetics Marfanoid habitus germline MedGen:C1839796 2015-06-01 1 2238221 C T 2238221 2238221 + Variant 383970 RCV000425474 SCV000524596 364926 SKI NM_003036.3:c.*17C>T Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-02-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-07 1 2336351 C T 2336351 2336351 - Variant 296252 RCV000386642 SCV000355579 281775 PEX10 NM_153818.1:c.*854G>A NM_153818.1:c.*854G>A:3 prime UTR variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 @@ -476,6 +702,7 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 2338000 C A 2338000 2338000 - Variant 282334 RCV000289565 SCV000333750 266571 PEX10 NM_153818.1:c.895G>T NP_722540.1:p.Glu299Ter NM_153818.1:c.895G>T:nonsense Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-08-12 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Peroxisome biogenesis disorder 6A germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 2015-08-12 1 2338005 A G 2338005 2338005 - Variant 162432 RCV000149810 SCV000196634 172123 PEX10 NM_153818.1:c.890T>C NP_722540.1:p.Leu297Pro NM_153818.1:c.890T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-02-01 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 19127411;6 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2009-02-01 1 2338015 T C 2338015 2338015 - Variant 197887 RCV000179027 SCV000231216;SCV000540015;SCV000316395 195048 PEX10 NM_153818.1:c.880A>G NP_722540.1:p.Thr294Ala NM_153818.1:c.880A>G:missense variant Conflicting interpretations of pathogenicity benign;benign;likely benign 0 0 0 1 2 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-03-29 PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified;NOT SPECIFIED;not specified 24033266;25741868 germline MedGen:CN169374 2014-11-23;0000-00-00;2016-03-29 +1 2338015 T C 2338015 2338015 - Variant 197887 RCV000538777 SCV000644952 195048 PEX10 NM_153818.1:c.880A>G NP_722540.1:p.Thr294Ala NM_153818.1:c.880A>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-09 Invitae Invitae Peroxisome biogenesis disorder, complementation group 7 28492532 germline MedGen:C1864399;OMIM:614870 2017-06-09 1 2338019 C A 2338019 2338019 - Variant 289743 RCV000264178 SCV000344149 273980 PEX10 NM_153818.1:c.876G>T NP_722540.1:p.Leu292= NM_153818.1:c.876G>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-27 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-27 1 2338019 CAG C 2338020 2338021 - Variant 296273 RCV000337969 SCV000355604 281791 PEX10 NM_153818.1:c.874_875delCT NP_722540.1:p.Leu292Valfs NM_153818.1:c.874_875delCT:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 10862081;12794690;19142205;20301621;21031596;22871920;27230853;9700193 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2338019 CAG C 2338020 2338021 - Variant 296273 RCV000409050 SCV000487552 281791 PEX10 NM_153818.1:c.874_875delCT NP_722540.1:p.Leu292Valfs NM_153818.1:c.874_875delCT:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-16 Counsyl Counsyl Peroxisome biogenesis disorder 6B 12794690 unknown MedGen:C3553948;OMIM:614871;Orphanet:44 2016-08-16 @@ -483,7 +710,7 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 2338023 G A 2338023 2338023 - Variant 289191 RCV000281616 SCV000343505 273428 PEX10 NM_153818.1:c.872C>T NP_722540.1:p.Pro291Leu NM_153818.1:c.872C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-30 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-06-30 1 2338024 G T 2338024 2338024 - Variant 286993 RCV000388149 SCV000340616 271230 PEX10 NM_153818.1:c.871C>A NP_722540.1:p.Pro291Thr NM_153818.1:c.871C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-05 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-04-05 1 2338151 G A 2338151 2338151 - Variant 296274 RCV000400274 SCV000355605 280483 PEX10 NM_153818.1:c.836+8C>T NM_153818.1:c.836+8C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 -1 2338158 C G 2338158 2338158 - Variant 225040 RCV000210672 SCV000262930 226879 PEX10 NM_153818.1:c.836+1G>C NM_153818.1:c.836+1G>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Ambry Genetics Ambry Genetics Inborn genetic diseases;MR/ID/DD;Allergy/Immunologic/Infectious (child onset);Hematologic (child onset);Renal (child onset) 22947299;23037933;23169492;23619275;23652378;23881473;24022298;24121147;24394680;25356970;25560141;25626707;25730230 germline MeSH:D030342;MedGen:C0950123 0000-00-00 +1 2338158 C G 2338158 2338158 - Variant 225040 RCV000210672 SCV000262930 226879 PEX10 NM_153818.1:c.836+1G>C NM_153818.1:c.836+1G>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2012-08-30 Ambry Genetics Ambry Genetics Inborn genetic diseases;Inborn genetic diseases 22947299;23037933;23169492;23619275;23652378;23881473;24022298;24121147;24394680;25560141;25626707;25730230 germline MeSH:D030342;MedGen:C0950123 2012-08-30 1 2338162 C T 2338162 2338162 - Variant 290110 RCV000268088 SCV000344607 274347 PEX10 NM_153818.1:c.833G>A NP_722540.1:p.Arg278His NM_153818.1:c.833G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-31 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-31 1 2338175 C T 2338175 2338175 - Variant 296275 RCV000297739 SCV000355606 281804 PEX10 NM_153818.1:c.820G>A NP_722540.1:p.Gly274Ser NM_153818.1:c.820G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2338205 G A 2338205 2338205 - Variant 162435 RCV000149813 SCV000196637 172126 PEX10 NM_153818.1:c.790C>T NP_722540.1:p.Arg264Ter NM_153818.1:c.790C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-01 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 20695019 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2010-08-01 @@ -491,22 +718,25 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 2338224 G A 2338224 2338224 - Variant 296276 RCV000354897 SCV000355607 280485 PEX10 NM_153818.1:c.771C>T NP_722540.1:p.Tyr257= NM_153818.1:c.771C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2338230 C CT 2338231 2338231 - Variant 6774 RCV000007176 SCV000027372;SCV000487553 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2016-07-22 OMIM;Counsyl OMIM;Counsyl Peroxisome biogenesis disorder 6A;PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 10862081;15542397;17702006;20695019;9683594 germline;unknown Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 2010-08-01;2016-07-22 1 2338230 C CT 2338231 2338231 - Variant 6774 RCV000149808 SCV000487554;SCV000196632 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2016-07-22 OMIM;Counsyl OMIM;Counsyl Peroxisome biogenesis disorder 6B 10862081;15542397;17702006;20695019;9683594 germline;unknown MedGen:C3553948;OMIM:614871;Orphanet:44 2010-08-01;2016-07-22 -1 2338230 C CT 2338231 2338231 - Variant 6774 RCV000324305 SCV000329456 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-08 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2015-12-08 +1 2338230 C CT 2338231 2338231 - Variant 6774 RCV000324305 SCV000329456 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-08 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2015-12-08 1 2338250 C G 2338250 2338250 - Variant 296277 RCV000408360 SCV000355608 280137 PEX10 NM_153818.1:c.745G>C NP_722540.1:p.Val249Leu NM_153818.1:c.745G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 -1 2338250 C G 2338250 2338250 - Variant 296277 RCV000425126 SCV000511689 280137 PEX10 NM_153818.1:c.745G>C NP_722540.1:p.Val249Leu NM_153818.1:c.745G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-05 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-01-05-06:00 +1 2338250 C G 2338250 2338250 - Variant 296277 RCV000425126 SCV000511689 280137 PEX10 NM_153818.1:c.745G>C NP_722540.1:p.Val249Leu NM_153818.1:c.745G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-05 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-01-05 1 2338294 C T 2338294 2338294 - Variant 291156 RCV000343088 SCV000345862 275393 PEX10 NM_153818.1:c.701G>A NP_722540.1:p.Arg234His NM_153818.1:c.701G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-09-08 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-08 +1 2338295 G A 2338295 2338295 - Variant 446046 RCV000514876 SCV000611011 439318 PEX10 NM_153818.1:c.700C>T NP_722540.1:p.Arg234Cys NM_153818.1:c.700C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-09-05 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-09-05 1 2338324 C T 2338324 2338324 - Variant 197386 RCV000178399 SCV000230472 194547 PEX10 NM_153818.1:c.671G>A NP_722540.1:p.Arg224His NM_153818.1:c.671G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-21 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-04-21 1 2338324 C T 2338324 2338324 - Variant 197386 RCV000315166 SCV000355609 194547 PEX10 NM_153818.1:c.671G>A NP_722540.1:p.Arg224His NM_153818.1:c.671G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2338409 C T 2338409 2338409 - Variant 296278 RCV000367525 SCV000355610 281805 PEX10 NM_153818.1:c.601-15G>A NM_153818.1:c.601-15G>A:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2339890 C T 2339890 2339890 - Variant 6770 RCV000007172 SCV000027368 21809 PEX10 NM_153818.1:c.600+1G>A NM_153818.1:c.600+1G>A:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-08-01 OMIM OMIM Peroxisome biogenesis disorder 6A;PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 9683594 germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 1998-08-01 +1 2339890 C T 2339890 2339890 - Variant 6770 RCV000519441 SCV000617242 21809 PEX10 NM_153818.1:c.600+1G>A NM_153818.1:c.600+1G>A:splice donor variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-15 GeneDx GeneDx not provided;Not Provided 9683594 germline MedGen:CN517202 2017-05-15 1 2339936 G A 2339936 2339936 - Variant 296279 RCV000275159 SCV000355611 281806 PEX10 NM_153818.1:c.555C>T NP_722540.1:p.His185= NM_153818.1:c.555C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2339996 G A 2339996 2339996 - Variant 196588 RCV000177416 SCV000229272 193749 PEX10 NM_153818.1:c.495C>T NP_722540.1:p.Phe165= NM_153818.1:c.495C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-06 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-06 1 2340045 G A 2340045 2340045 - Variant 289259 RCV000378264 SCV000343590 273496 PEX10 NM_153818.1:c.446C>T NP_722540.1:p.Thr149Met NM_153818.1:c.446C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-05 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-07-05 +1 2340055 G C 2340055 2340055 - Variant 452215 RCV000520880 SCV000621003 442784 PEX10 NM_153818.1:c.436C>G NP_722540.1:p.Arg146Gly NM_153818.1:c.436C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-09-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-09-22 1 2340073 C G 2340073 2340073 - Variant 296280 RCV000309150 SCV000355612 281810 PEX10 NM_153818.1:c.418G>C NP_722540.1:p.Gly140Arg NM_153818.1:c.418G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2340118 G A 2340118 2340118 - Variant 6772 RCV000007174 SCV000027370 21811 PEX10 NM_153818.1:c.373C>T NP_722540.1:p.Arg125Ter NM_153818.1:c.373C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-08-01 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 9683594 germline MedGen:C3553948;OMIM:614871;Orphanet:44 1998-08-01 1 2340139 G A 2340139 2340139 - Variant 371748 RCV000410037 SCV000487627 357074 PEX10 NM_153818.1:c.352C>T NP_722540.1:p.Gln118Ter NM_153818.1:c.352C>T:nonsense Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-21 Counsyl Counsyl Peroxisome biogenesis disorder 6A 10862081;21031596;25525159 unknown Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 2016-10-21 1 2340139 G A 2340139 2340139 - Variant 371748 RCV000411504 SCV000487628 357074 PEX10 NM_153818.1:c.352C>T NP_722540.1:p.Gln118Ter NM_153818.1:c.352C>T:nonsense Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-21 Counsyl Counsyl Peroxisome biogenesis disorder 6B 10862081;21031596;25525159 unknown MedGen:C3553948;OMIM:614871;Orphanet:44 2016-10-21 -1 2340152 CA C 2340153 2340153 - Variant 235465 RCV000224922 SCV000281066 237148 PEX10 NM_153818.1:c.338delT NP_722540.1:p.Leu113Argfs NM_153818.1:c.338delT:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-11 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-01-11-06:00 +1 2340152 CA C 2340153 2340153 - Variant 235465 RCV000224922 SCV000281066 237148 PEX10 NM_153818.1:c.338delT NP_722540.1:p.Leu113Argfs NM_153818.1:c.338delT:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-11 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2016-01-11 1 2340153 AG A 2340154 2340154 - Variant 162431 RCV000149809 SCV000196633 172122 PEX10 NM_153818.1:c.337delC NP_722540.1:p.Leu113Trpfs NM_153818.1:c.337delC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-02-01 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 19127411;8982949 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2009-02-01 1 2340158 G A 2340158 2340158 - Variant 289556 RCV000356298 SCV000343936 273793 PEX10 NM_153818.1:c.333C>T NP_722540.1:p.Leu111= NM_153818.1:c.333C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-15 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-07-15 1 2340173 C T 2340173 2340173 - Variant 262789 RCV000249703 SCV000316394 249843 PEX10 NM_153818.1:c.318G>A NP_722540.1:p.Leu106= NM_153818.1:c.318G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 @@ -518,233 +748,3 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 2340211 C T 2340211 2340211 - Variant 296282 RCV000378821 SCV000355616 281811 PEX10 NM_153818.1:c.280G>A NP_722540.1:p.Val94Met NM_153818.1:c.280G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2340212 G A 2340212 2340212 - Variant 129883 RCV000117901 SCV000316392;SCV000152176 135329 PEX10 NM_153818.1:c.279C>T NP_722540.1:p.Gly93= NM_153818.1:c.279C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 2340212 G A 2340212 2340212 - Variant 129883 RCV000267822 SCV000355617 135329 PEX10 NM_153818.1:c.279C>T NP_722540.1:p.Gly93= NM_153818.1:c.279C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 -1 2340216 C T 2340216 2340216 - Variant 296283 RCV000320556 SCV000355618 281812 PEX10 NM_153818.1:c.275G>A NP_722540.1:p.Arg92His NM_153818.1:c.275G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 -1 2340302 G A 2340302 2340302 - Variant 262788 RCV000250225 SCV000334697;SCV000316391 249844 PEX10 NM_153818.1:c.194-5C>T NM_153818.1:c.194-5C>T:intron variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2015-09-04 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2015-09-04 -1 2340302 G A 2340302 2340302 - Variant 262788 RCV000377774 SCV000355619 249844 PEX10 NM_153818.1:c.194-5C>T NM_153818.1:c.194-5C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 -1 2341879 A T 2341879 2341879 - Variant 436285 RCV000503264 SCV000596392 427756 PEX10 NM_153818.1:c.124T>A NP_722540.1:p.Trp42Arg NM_153818.1:c.124T>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-08-13 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-08-13 -1 2343936 G C 2343936 2343936 - Variant 284321 RCV000280964 SCV000355620 268558 PEX10 NM_153818.1:c.6C>G NP_722540.1:p.Ala2= NM_153818.1:c.6C>G:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 -1 2343936 G C 2343936 2343936 - Variant 284321 RCV000370857 SCV000336900 268558 PEX10 NM_153818.1:c.6C>G NP_722540.1:p.Ala2= NM_153818.1:c.6C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-10-30 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-10-30 -1 2343940 A G 2343940 2343940 - Variant 162434 RCV000149812 SCV000196636 172125 PEX10 NM_153818.1:c.2T>C NP_722540.1:p.Met1Thr NM_153818.1:c.2T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-01 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 20695019 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2010-08-01 -1 2343941 T C 2343941 2343941 - Variant 280002 RCV000341916 SCV000329696 263985 PEX10 NM_153818.1:c.1A>G NP_722540.1:p.Met1Val NM_153818.1:c.1A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-11-25 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2015-11-25 -1 2343991 CCA C 2343992 2343993 - Variant 296284 RCV000338225 SCV000355621 281942 PEX10 NM_153818.1:c.-52_-51delTG NM_153818.1:c.-52_-51delTG:5 prime UTR variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 -1 2488153 A G 2488153 2488153 + Variant 135349 RCV000122164 SCV000086379 139088 TNFRSF14 NM_003820.3:c.50A>G NP_003811.2:p.Lys17Arg NM_003820.3:c.50A>G:missense variant;NR_037844.2:n.36-18T>C:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2490452 C T 2490452 2490452 + Variant 133394 RCV000119896 SCV000084026 137133 TNFRSF14 NM_003820.3:c.304+545C>T NM_003820.3:c.304+545C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2490513 C G 2490513 2490513 + Variant 133395 RCV000119897 SCV000084027 137134 TNFRSF14 NM_003820.3:c.304+606C>G NM_003820.3:c.304+606C>G:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2490531 C T 2490531 2490531 + Variant 133396 RCV000119898 SCV000084028 137135 TNFRSF14 NM_003820.3:c.304+624C>T NM_003820.3:c.304+624C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2490549 C T 2490549 2490549 + Variant 133397 RCV000119899 SCV000084029 137136 TNFRSF14 NM_003820.3:c.304+642C>T NM_003820.3:c.304+642C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2490608 A G 2490608 2490608 + Variant 133398 RCV000119900 SCV000084030 137137 TNFRSF14 NM_003820.3:c.305-654A>G NM_003820.3:c.305-654A>G:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2490609 T C 2490609 2490609 + Variant 133399 RCV000119901 SCV000084031 137138 TNFRSF14 NM_003820.3:c.305-653T>C NM_003820.3:c.305-653T>C:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2490786 C T 2490786 2490786 + Variant 133400 RCV000119902 SCV000084032 137139 TNFRSF14 NM_003820.3:c.305-476C>T NM_003820.3:c.305-476C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2490800 G T 2490800 2490800 + Variant 133401 RCV000119903 SCV000084033 137140 TNFRSF14 NM_003820.3:c.305-462G>T NM_003820.3:c.305-462G>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2490861 G T 2490861 2490861 + Variant 133402 RCV000119904 SCV000084034 137141 TNFRSF14 NM_003820.3:c.305-401G>T NM_003820.3:c.305-401G>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2490865 T A 2490865 2490865 + Variant 133403 RCV000119905 SCV000084035 137142 TNFRSF14 NM_003820.3:c.305-397T>A NM_003820.3:c.305-397T>A:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2490898 C A 2490898 2490898 + Variant 133404 RCV000119906 SCV000084036 137143 TNFRSF14 NM_003820.3:c.305-364C>A NM_003820.3:c.305-364C>A:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2490934 C A 2490934 2490934 + Variant 133405 RCV000119907 SCV000084037 137144 TNFRSF14 NM_003820.3:c.305-328C>A NM_003820.3:c.305-328C>A:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2490942 C A 2490942 2490942 + Variant 133406 RCV000119908 SCV000084038 137145 TNFRSF14 NM_003820.3:c.305-320C>A NM_003820.3:c.305-320C>A:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2490954 C T 2490954 2490954 + Variant 133407 RCV000119909 SCV000084039 137146 TNFRSF14 NM_003820.3:c.305-308C>T NM_003820.3:c.305-308C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2491013 C T 2491013 2491013 + Variant 133408 RCV000119910 SCV000084040 137147 TNFRSF14 NM_003820.3:c.305-249C>T NM_003820.3:c.305-249C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2491061 G A 2491061 2491061 + Variant 133409 RCV000119911 SCV000084041 137148 TNFRSF14 NM_003820.3:c.305-201G>A NM_003820.3:c.305-201G>A:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2491071 C G 2491071 2491071 + Variant 133410 RCV000119912 SCV000084042 137149 TNFRSF14 NM_003820.3:c.305-191C>G NM_003820.3:c.305-191C>G:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2491071 C T 2491071 2491071 + Variant 133411 RCV000119913 SCV000084043 137150 TNFRSF14 NM_003820.3:c.305-191C>T NM_003820.3:c.305-191C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2491091 G A 2491091 2491091 + Variant 133412 RCV000119914 SCV000084044 137151 TNFRSF14 NM_003820.3:c.305-171G>A NM_003820.3:c.305-171G>A:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2491164 G A 2491164 2491164 + Variant 133413 RCV000119915 SCV000084045 137152 TNFRSF14 NM_003820.3:c.305-98G>A NM_003820.3:c.305-98G>A:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2491203 CCC ACT 2491203 2491205 + Variant 133415 RCV000119917 SCV000084047 137154 TNFRSF14 NM_003820.3:c.305-59_305-57delCCCinsACT NM_003820.3:c.305-59_305-57delCCCinsACT:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2491205 C T 2491205 2491205 + Variant 133414 RCV000119916 SCV000084046 137153 TNFRSF14 NM_003820.3:c.305-57C>T NM_003820.3:c.305-57C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2491305 C T 2491305 2491305 + Variant 135350 RCV000122165 SCV000086380 139089 TNFRSF14 NM_003820.3:c.348C>T NP_003811.2:p.Asn116= NM_003820.3:c.348C>T:synonymous variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2491306 G A 2491306 2491306 + Variant 135353 RCV000122168 SCV000086383 139092 TNFRSF14 NM_003820.3:c.349G>A NP_003811.2:p.Ala117Thr NM_003820.3:c.349G>A:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2491362 C T 2491362 2491362 + Variant 135351 RCV000122166 SCV000086381 139090 TNFRSF14 NM_003820.3:c.405C>T NP_003811.2:p.Cys135= NM_003820.3:c.405C>T:synonymous variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2491365 C T 2491365 2491365 + Variant 135352 RCV000122167 SCV000086382 139091 TNFRSF14 NM_003820.3:c.408C>T NP_003811.2:p.Ala136= NM_003820.3:c.408C>T:synonymous variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2492123 G A 2492123 2492123 + Variant 135354 RCV000122169 SCV000086384 139093 TNFRSF14 NM_003820.3:c.521G>A NP_003811.2:p.Gly174Glu NM_003820.3:c.521G>A:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2492946 AG A 2492947 2492947 + Variant 133416 RCV000119918 SCV000084048 137155 TNFRSF14 NM_003820.3:c.552-165delG NM_003820.3:c.552-165delG:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2492972 C T 2492972 2492972 + Variant 133417 RCV000119919 SCV000084049 137156 TNFRSF14 NM_003820.3:c.552-140C>T NM_003820.3:c.552-140C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2493118 C G 2493118 2493118 + Variant 91954 RCV000122511 SCV000155019 97432 TNFRSF14 NM_003820.3:c.558C>G NP_003811.2:p.Ser186Arg NM_001297605.1:c.551+965C>G:intron variant;NM_003820.3:c.558C>G:missense variant Uncertain significance unknown 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 0000-00-00 Richard Lifton Laboratory, Yale University School of Medicine Richard Lifton Laboratory, Yale University School of Medicine not provided;not provided somatic MedGen:CN221809 0000-00-00 -1 2494330 G A 2494330 2494330 + Variant 135355 RCV000122170 SCV000086385 139094 TNFRSF14 NM_003820.3:c.721G>A NP_003811.2:p.Val241Ile NM_001297605.1:c.*23G>A:3 prime UTR variant;NM_003820.3:c.721G>A:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2494645 C T 2494645 2494645 + Variant 135356 RCV000122171 SCV000086386 139095 TNFRSF14 NM_003820.3:c.785C>T NP_003811.2:p.Pro262Leu NM_001297605.1:c.*87C>T:3 prime UTR variant;NM_003820.3:c.785C>T:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2494657 C T 2494657 2494657 + Variant 135357 RCV000122172 SCV000086387 139096 TNFRSF14 NM_003820.3:c.797C>T NP_003811.2:p.Thr266Met NM_001297605.1:c.*99C>T:3 prime UTR variant;NM_003820.3:c.797C>T:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2985810 C A 2985810 2985810 + Variant 228319 RCV000214266 SCV000271302 228411 PRDM16 NM_022114.3:c.-14C>A NM_022114.3:c.-14C>A:5 prime UTR variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2016-04-07 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified germline MedGen:CN169374 2016-04-07 -1 2985844 G A 2985844 2985844 + Variant 390136 RCV000439530 SCV000532887 365123 PRDM16 NM_022114.3:c.21G>A NP_071397.3:p.Ala7= NM_022114.3:c.21G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-26 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-26 -1 3102674 C T 3102674 3102674 + Variant 227038 RCV000222776 SCV000525689;SCV000269736 228410 PRDM16 NM_022114.3:c.38-15C>T NM_022114.3:c.38-15C>T:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-11-21 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-11-21 -1 3102675 G A 3102675 3102675 + Variant 229168 RCV000219133 SCV000527901;SCV000272332 228412 PRDM16 NM_022114.3:c.38-14G>A NM_022114.3:c.38-14G>A:intron variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2017-05-25 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-04-14;2017-05-25 -1 3102751 G A 3102751 3102751 + Variant 227857 RCV000215109 SCV000270747;SCV000525664 228413 PRDM16 NM_022114.3:c.100G>A NP_071397.3:p.Ala34Thr NM_022114.3:c.100G>A:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-06 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-04-01;2016-10-06 -1 3102751 G A 3102751 3102751 + Variant 227857 RCV000228623 SCV000290637 228413 PRDM16 NM_022114.3:c.100G>A NP_071397.3:p.Ala34Thr NM_022114.3:c.100G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-12 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-12 -1 3102752 C T 3102752 3102752 + Variant 406246 RCV000456657 SCV000544798 391167 PRDM16 NM_022114.3:c.101C>T NP_071397.3:p.Ala34Val NM_022114.3:c.101C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-19 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-19 -1 3102793 G A 3102793 3102793 + Variant 241420 RCV000234327 SCV000290639 238267 PRDM16 NM_022114.3:c.142G>A NP_071397.3:p.Val48Met NM_022114.3:c.142G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-11-17 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-11-17 -1 3102793 G A 3102793 3102793 + Variant 241420 RCV000430883 SCV000534200 238267 PRDM16 NM_022114.3:c.142G>A NP_071397.3:p.Val48Met NM_022114.3:c.142G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-22 -1 3102797 G A 3102797 3102797 + Variant 423614 RCV000486085 SCV000573332 405157 PRDM16 NM_022114.3:c.146G>A NP_071397.3:p.Gly49Glu NM_022114.3:c.146G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-15 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-15 -1 3102851 C T 3102851 3102851 + Variant 406237 RCV000469281 SCV000544788 391187 PRDM16 NM_022114.3:c.200C>T NP_071397.3:p.Pro67Leu NM_022114.3:c.200C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-05 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-05 -1 3102852 G A 3102852 3102852 + Variant 227864 RCV000220218 SCV000270754 228414 PRDM16 NM_022114.3:c.201G>A NP_071397.3:p.Pro67= NM_022114.3:c.201G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-08-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-08-11 -1 3102852 G A 3102852 3102852 + Variant 227864 RCV000228859 SCV000290643 228414 PRDM16 NM_022114.3:c.201G>A NP_071397.3:p.Pro67= NM_022114.3:c.201G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-06-24 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-24 -1 3102998 T C 3102998 3102998 + Variant 391742 RCV000426483 SCV000534878 365215 PRDM16 NM_022114.3:c.347T>C NP_071397.3:p.Val116Ala NM_022114.3:c.347T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-16 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-16 -1 3103044 C T 3103044 3103044 + Variant 227039 RCV000216479 SCV000269737 228415 PRDM16 NM_022114.3:c.387+6C>T NM_022114.3:c.387+6C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-06-10 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-06-10 -1 3103044 C T 3103044 3103044 + Variant 227039 RCV000464355 SCV000556981 228415 PRDM16 NM_022114.3:c.387+6C>T NM_022114.3:c.387+6C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-11-06 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-06 -1 3160666 G A 3160666 3160666 + Variant 432894 RCV000498621 SCV000590667 425363 PRDM16 NM_022114.3:c.403G>A NP_071397.3:p.Val135Met NM_022114.3:c.403G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-19 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-19 -1 3160692 C T 3160692 3160692 + Variant 227040 RCV000219941 SCV000269738 228416 PRDM16 NM_022114.3:c.429C>T NP_071397.3:p.Cys143= NM_022114.3:c.429C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2014-11-24 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 -1 3301712 G T 3301712 3301712 + Variant 413869 RCV000463252 SCV000556978 391188 PRDM16 NM_022114.3:c.439-4G>T NM_022114.3:c.439-4G>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-26 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-26 -1 3301721 C T 3301721 3301721 + Variant 227041 RCV000213616 SCV000269739;SCV000520304 228417 PRDM16 NM_022114.3:c.444C>T NP_071397.3:p.Ser148= NM_022114.3:c.444C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-09 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-09 -1 3301758 A G 3301758 3301758 + Variant 406240 RCV000475755 SCV000544792 391170 PRDM16 NM_022114.3:c.481A>G NP_071397.3:p.Asn161Asp NM_022114.3:c.481A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-19 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-19 -1 3301765 C T 3301765 3301765 + Variant 391177 RCV000444937 SCV000534187 365226 PRDM16 NM_022114.3:c.488C>T NP_071397.3:p.Ala163Val NM_022114.3:c.488C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-30 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-30 -1 3301830 A G 3301830 3301830 + Variant 235271 RCV000224254 SCV000280726 236958 PRDM16 NM_022114.3:c.553A>G NP_071397.3:p.Met185Val NM_022114.3:c.553A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-11 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-01-11-06:00 -1 3301859 G A 3301859 3301859 + Variant 413864 RCV000473521 SCV000556968 391176 PRDM16 NM_022114.3:c.573+9G>A NM_022114.3:c.573+9G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-03 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 -1 3313031 TTCTC T 3313035 3313038 + Variant 422807 RCV000482222 SCV000572372 405161 PRDM16 NM_022114.3:c.574-20_574-17delCTCT NM_022114.3:c.574-20_574-17delCTCT:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-29 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-29 -1 3313108 C T 3313108 3313108 + Variant 227042 RCV000217911 SCV000269740;SCV000527902 228418 PRDM16 NM_022114.3:c.627C>T NP_071397.3:p.His209= NM_022114.3:c.627C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-10-11 -1 3313108 C T 3313108 3313108 + Variant 227042 RCV000470033 SCV000556962 228418 PRDM16 NM_022114.3:c.627C>T NP_071397.3:p.His209= NM_022114.3:c.627C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-12-29 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-29 -1 3313138 A C 3313138 3313138 + Variant 227872 RCV000217723 SCV000270762 228419 PRDM16 NM_022114.3:c.657A>C NP_071397.3:p.Thr219= NM_022114.3:c.657A>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-04-01 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-01 -1 3313147 C T 3313147 3313147 + Variant 226442 RCV000488452 SCV000270763 228241 PRDM16 NM_022114.3:c.666C>T NP_071397.3:p.Pro222= NM_022114.3:c.666C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-03-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-11 -1 3319339 G A 3319339 3319339 + Variant 381208 RCV000420246 SCV000520353 365019 PRDM16 NM_022114.3:c.677-16G>A NM_022114.3:c.677-16G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-04 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-04 -1 3319392 C A 3319392 3319392 + Variant 227874 RCV000214448 SCV000270764 228420 PRDM16 NM_022114.3:c.714C>A NP_071397.3:p.Leu238= NM_022114.3:c.714C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2014-11-24 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 -1 3319461 C T 3319461 3319461 + Variant 227043 RCV000220870 SCV000528008;SCV000269741 228422 PRDM16 NM_022114.3:c.783C>T NP_071397.3:p.Tyr261= NM_022114.3:c.783C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-04 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-10-04 -1 3319461 C T 3319461 3319461 + Variant 227043 RCV000228241 SCV000290657 228422 PRDM16 NM_022114.3:c.783C>T NP_071397.3:p.Tyr261= NM_022114.3:c.783C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-19 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-19 -1 3319500 C T 3319500 3319500 + Variant 227875 RCV000217462 SCV000270765 228423 PRDM16 NM_022114.3:c.822C>T NP_071397.3:p.Gly274= NM_022114.3:c.822C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2014-11-24 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 -1 3319503 TG T 3319504 3319504 + Variant 377306 RCV000442803 SCV000511708 364184 PRDM16 NM_022114.3:c.826delG NP_071397.3:p.Gly276Alafs NM_022114.3:c.826delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-07 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-02-07-06:00 -1 3319545 G A 3319545 3319545 + Variant 229169 RCV000223395 SCV000272333 228425 PRDM16 NM_022114.3:c.867G>A NP_071397.3:p.Met289Ile NM_022114.3:c.867G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-14 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-14 -1 3319550 C T 3319550 3319550 + Variant 60728 RCV000054522 SCV000083000 75288 PRDM16 NM_022114.3:c.872C>T NP_071397.3:p.Pro291Leu NM_022114.3:c.872C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-07-11 OMIM OMIM Dilated cardiomyopathy 1LL;CARDIOMYOPATHY, DILATED, 1LL 23768516 germline MedGen:CN178850;OMIM:615373 2013-07-11 -1 3321298 C T 3321298 3321298 + Variant 391408 RCV000431911 SCV000534475 365024 PRDM16 NM_022114.3:c.885-5C>T NM_022114.3:c.885-5C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-05 -1 3321299 G A 3321299 3321299 + Variant 413870 RCV000457740 SCV000556980 391323 PRDM16 NM_022114.3:c.885-4G>A NM_022114.3:c.885-4G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-03-31 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-31 -1 3322049 G A 3322049 3322049 + Variant 413861 RCV000466116 SCV000556961 391327 PRDM16 NM_022114.3:c.1033-10G>A NM_022114.3:c.1033-10G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-20 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-09-20 -1 3322051 C T 3322051 3322051 + Variant 413872 RCV000465432 SCV000556984 391224 PRDM16 NM_022114.3:c.1033-8C>T NM_022114.3:c.1033-8C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-04-04 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-04-04 -1 3322097 C T 3322097 3322097 + Variant 221025 RCV000204192 SCV000262104 221095 PRDM16 NM_022114.3:c.1071C>T NP_071397.3:p.Arg357= NM_022114.3:c.1071C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-12 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-12 -1 3322097 C T 3322097 3322097 + Variant 221025 RCV000220538 SCV000533008;SCV000269718 221095 PRDM16 NM_022114.3:c.1071C>T NP_071397.3:p.Arg357= NM_022114.3:c.1071C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-11-16 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-11-16 -1 3322107 G A 3322107 3322107 + Variant 229155 RCV000213682 SCV000272319 228426 PRDM16 NM_022114.3:c.1081G>A NP_071397.3:p.Val361Met NM_022114.3:c.1081G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-08 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-08 -1 3322119 G T 3322119 3322119 + Variant 229156 RCV000216650 SCV000272320 228427 PRDM16 NM_022114.3:c.1093G>T NP_071397.3:p.Ala365Ser NM_022114.3:c.1093G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-05-28 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-05-28 -1 3322139 C T 3322139 3322139 + Variant 227022 RCV000214207 SCV000269719;SCV000525690 228429 PRDM16 NM_022114.3:c.1113C>T NP_071397.3:p.Cys371= NM_022114.3:c.1113C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-30 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-09-30 -1 3322139 C T 3322139 3322139 + Variant 227022 RCV000475757 SCV000556971 228429 PRDM16 NM_022114.3:c.1113C>T NP_071397.3:p.Cys371= NM_022114.3:c.1113C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-10 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-10 -1 3322142 G A 3322142 3322142 + Variant 227858 RCV000219433 SCV000535019;SCV000270748 228428 PRDM16 NM_022114.3:c.1116G>A NP_071397.3:p.Gly372= NM_022114.3:c.1116G>A:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-12-20 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-06-10;2016-12-20 -1 3322160 C G 3322160 3322160 + Variant 227859 RCV000222431 SCV000534351;SCV000270749 228430 PRDM16 NM_022114.3:c.1134C>G NP_071397.3:p.Ser378= NM_022114.3:c.1134C>G:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-11-28 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-24;2016-11-28 -1 3322160 C G 3322160 3322160 + Variant 227859 RCV000463379 SCV000556958 228430 PRDM16 NM_022114.3:c.1134C>G NP_071397.3:p.Ser378= NM_022114.3:c.1134C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-06-21 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-21 -1 3327938 G C 3327938 3327938 + Variant 229157 RCV000221026 SCV000272321 228431 PRDM16 NM_022114.3:c.1187-10G>C NM_022114.3:c.1187-10G>C:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-05-26 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-05-26 -1 3327973 G A 3327973 3327973 + Variant 227023 RCV000217174 SCV000531906;SCV000269720 228432 PRDM16 NM_022114.3:c.1212G>A NP_071397.3:p.Thr404= NM_022114.3:c.1212G>A:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2017-01-12 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2017-01-12 -1 3327973 G A 3327973 3327973 + Variant 227023 RCV000230341 SCV000290638 228432 PRDM16 NM_022114.3:c.1212G>A NP_071397.3:p.Thr404= NM_022114.3:c.1212G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-04 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-04 -1 3328086 G A 3328086 3328086 + Variant 373356 RCV000414577 SCV000491943 359261 PRDM16 NM_022114.3:c.1325G>A NP_071397.3:p.Arg442Gln NM_022114.3:c.1325G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-21 -1 3328089 G A 3328089 3328089 + Variant 432618 RCV000497461 SCV000590367 425364 PRDM16 NM_022114.3:c.1328G>A NP_071397.3:p.Arg443His NM_022114.3:c.1328G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-09 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-09 -1 3328124 G A 3328124 3328124 + Variant 227860 RCV000214839 SCV000270750 228433 PRDM16 NM_022114.3:c.1363G>A NP_071397.3:p.Gly455Ser NM_022114.3:c.1363G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-11-24 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-11-24 -1 3328154 C G 3328154 3328154 + Variant 406236 RCV000459138 SCV000544787 391328 PRDM16 NM_022114.3:c.1393C>G NP_071397.3:p.Pro465Ala NM_022114.3:c.1393C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-13 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-13 -1 3328187 C T 3328187 3328187 + Variant 227024 RCV000221460 SCV000269721 228435 PRDM16 NM_022114.3:c.1426C>T NP_071397.3:p.Pro476Ser NM_022114.3:c.1426C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2014-11-24 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 -1 3328187 C T 3328187 3328187 + Variant 227024 RCV000474106 SCV000556965 228435 PRDM16 NM_022114.3:c.1426C>T NP_071397.3:p.Pro476Ser NM_022114.3:c.1426C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-09-12 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-09-12 -1 3328219 CG C 3328220 3328220 + Variant 426516 RCV000489128 SCV000576978 414793 PRDM16 NM_022114.3:c.1459delG NP_071397.3:p.Glu487Serfs NM_022114.3:c.1459delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-13 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2017-04-13 -1 3328246 G A 3328246 3328246 + Variant 406234 RCV000464362 SCV000544785 391330 PRDM16 NM_022114.3:c.1485G>A NP_071397.3:p.Pro495= NM_022114.3:c.1485G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-06 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-06 -1 3328279 G A 3328279 3328279 + Variant 227025 RCV000214308 SCV000532874;SCV000269722 228434 PRDM16 NM_022114.3:c.1518G>A NP_071397.3:p.Thr506= NM_022114.3:c.1518G>A:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-12-07 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-12-07 -1 3328279 G A 3328279 3328279 + Variant 227025 RCV000461808 SCV000556955 228434 PRDM16 NM_022114.3:c.1518G>A NP_071397.3:p.Thr506= NM_022114.3:c.1518G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-18 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-18 -1 3328298 G A 3328298 3328298 + Variant 241421 RCV000228195 SCV000290640 238269 PRDM16 NM_022114.3:c.1537G>A NP_071397.3:p.Gly513Ser NM_022114.3:c.1537G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-03-28 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-28 -1 3328306 G A 3328306 3328306 + Variant 413859 RCV000477564 SCV000556957 391189 PRDM16 NM_022114.3:c.1545G>A NP_071397.3:p.Pro515= NM_022114.3:c.1545G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-03 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 -1 3328329 A AC 3328334 3328334 + Variant 280120 RCV000365162 SCV000329980 264033 PRDM16 NM_022114.3:c.1573dupC NP_071397.3:p.Arg525Profs NM_022114.3:c.1573dupC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-02-08 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-02-08 -1 3328335 G A 3328335 3328335 + Variant 229158 RCV000213365 SCV000272322 228436 PRDM16 NM_022114.3:c.1574G>A NP_071397.3:p.Arg525Gln NM_022114.3:c.1574G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-26 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-01-26 -1 3328339 G A 3328339 3328339 + Variant 227861 RCV000219165 SCV000270751 228437 PRDM16 NM_022114.3:c.1578G>A NP_071397.3:p.Pro526= NM_022114.3:c.1578G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-01-22 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-01-22 -1 3328339 G A 3328339 3328339 + Variant 227861 RCV000470998 SCV000556982 228437 PRDM16 NM_022114.3:c.1578G>A NP_071397.3:p.Pro526= NM_022114.3:c.1578G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-18 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-18 -1 3328358 T C 3328358 3328358 + Variant 227026 RCV000217271 SCV000520301;SCV000269723 228438 PRDM16 NM_022114.3:c.1597T>C NP_071397.3:p.Ser533Pro NM_022114.3:c.1597T>C:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-09 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-09 -1 3328360 G A 3328360 3328360 + Variant 413858 RCV000471293 SCV000556956 391333 PRDM16 NM_022114.3:c.1599G>A NP_071397.3:p.Ser533= NM_022114.3:c.1599G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-08-03 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-03 -1 3328393 C T 3328393 3328393 + Variant 241422 RCV000232157 SCV000290641 238270 PRDM16 NM_022114.3:c.1632C>T NP_071397.3:p.Asp544= NM_022114.3:c.1632C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-02-26 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-02-26 -1 3328445 G A 3328445 3328445 + Variant 227862 RCV000223463 SCV000530370;SCV000270752 228439 PRDM16 NM_022114.3:c.1684G>A NP_071397.3:p.Val562Ile NM_022114.3:c.1684G>A:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2017-06-27 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2017-06-27 -1 3328445 G A 3328445 3328445 + Variant 227862 RCV000459912 SCV000556986 228439 PRDM16 NM_022114.3:c.1684G>A NP_071397.3:p.Val562Ile NM_022114.3:c.1684G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-11-03 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 -1 3328467 C T 3328467 3328467 + Variant 426420 RCV000489145 SCV000576855 414794 PRDM16 NM_022114.3:c.1706C>T NP_071397.3:p.Thr569Met NM_022114.3:c.1706C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-17 -1 3328480 G A 3328480 3328480 + Variant 241423 RCV000225997 SCV000290642 238271 PRDM16 NM_022114.3:c.1719G>A NP_071397.3:p.Ala573= NM_022114.3:c.1719G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-03-13 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-13 -1 3328487 G A 3328487 3328487 + Variant 430198 RCV000494613 SCV000582941 421241 PRDM16 NM_022114.3:c.1726G>A NP_071397.3:p.Glu576Lys NM_022114.3:c.1726G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-19 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-19 -1 3328558 G A 3328558 3328558 + Variant 390967 RCV000440662 SCV000533929 365233 PRDM16 NM_022114.3:c.1797G>A NP_071397.3:p.Ser599= NM_022114.3:c.1797G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-18 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-18 -1 3328611 C T 3328611 3328611 + Variant 432644 RCV000498119 SCV000590394 425365 PRDM16 NM_022114.3:c.1850C>T NP_071397.3:p.Thr617Met NM_022114.3:c.1850C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-13 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-13 -1 3328638 A T 3328638 3328638 + Variant 229159 RCV000217585 SCV000272323 228441 PRDM16 NM_022114.3:c.1877A>T NP_071397.3:p.Asp626Val NM_022114.3:c.1877A>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-26 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-01-26 -1 3328643 G A 3328643 3328643 + Variant 406247 RCV000466162 SCV000544799 391230 PRDM16 NM_022114.3:c.1882G>A NP_071397.3:p.Asp628Asn NM_022114.3:c.1882G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-15 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-15 -1 3328659 C T 3328659 3328659 + Variant 227027 RCV000221571 SCV000269724;SCV000520305 228440 PRDM16 NM_022114.3:c.1898C>T NP_071397.3:p.Pro633Leu NM_022114.3:c.1898C>T:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-23 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-23 -1 3328691 G A 3328691 3328691 + Variant 392339 RCV000431315 SCV000535594 365026 PRDM16 NM_022114.3:c.1930G>A NP_071397.3:p.Glu644Lys NM_022114.3:c.1930G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-05 -1 3328723 G A 3328723 3328723 + Variant 413863 RCV000458957 SCV000556966 391179 PRDM16 NM_022114.3:c.1962G>A NP_071397.3:p.Ala654= NM_022114.3:c.1962G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-31 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-31 -1 3328726 C A 3328726 3328726 + Variant 391905 RCV000441266 SCV000535074 365030 PRDM16 NM_022114.3:c.1965C>A NP_071397.3:p.Pro655= NM_022114.3:c.1965C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-19 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-19 -1 3328733 G C 3328733 3328733 + Variant 406241 RCV000462349 SCV000544793 391192 PRDM16 NM_022114.3:c.1972G>C NP_071397.3:p.Ala658Pro NM_022114.3:c.1972G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-10 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-10 -1 3328738 G A 3328738 3328738 + Variant 227863 RCV000215898 SCV000270753 228442 PRDM16 NM_022114.3:c.1977G>A NP_071397.3:p.Pro659= NM_022114.3:c.1977G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-03-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-11 -1 3328798 C T 3328798 3328798 + Variant 413865 RCV000461094 SCV000556972 391334 PRDM16 NM_022114.3:c.2037C>T NP_071397.3:p.Asp679= NM_022114.3:c.2037C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-30 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-30 -1 3328821 G C 3328821 3328821 + Variant 229160 RCV000221873 SCV000272324 228443 PRDM16 NM_022114.3:c.2060G>C NP_071397.3:p.Gly687Ala NM_022114.3:c.2060G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-03-22 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-03-22 -1 3328850 G T 3328850 3328850 + Variant 229161 RCV000214303 SCV000272325 228444 PRDM16 NM_022114.3:c.2089G>T NP_071397.3:p.Ala697Ser NM_022114.3:c.2089G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-07-22 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-22 -1 3328852 A T 3328852 3328852 + Variant 227028 RCV000215257 SCV000269725 228445 PRDM16 NM_022114.3:c.2091A>T NP_071397.3:p.Ala697= NM_022114.3:c.2091A>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2014-11-24 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 -1 3328852 A T 3328852 3328852 + Variant 227028 RCV000470201 SCV000556959 228445 PRDM16 NM_022114.3:c.2091A>T NP_071397.3:p.Ala697= NM_022114.3:c.2091A>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-12-27 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-27 -1 3328861 C T 3328861 3328861 + Variant 220733 RCV000204005 SCV000261518 221096 PRDM16 NM_022114.3:c.2100C>T NP_071397.3:p.Ala700= NM_022114.3:c.2100C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-11-25 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-11-25 -1 3328865 A T 3328865 3328865 + Variant 60724 RCV000054518 SCV000082996 75284 PRDM16 NM_022114.3:c.2104A>T NP_071397.3:p.Lys702Ter NM_022114.3:c.2104A>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-07-11 OMIM OMIM Left ventricular noncompaction 8;LEFT VENTRICULAR NONCOMPACTION 8 23768516 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2013-07-11 -1 3328887 T C 3328887 3328887 + Variant 426184 RCV000489210 SCV000576566 414795 PRDM16 NM_022114.3:c.2126T>C NP_071397.3:p.Met709Thr NM_022114.3:c.2126T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-27 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-27 -1 3328891 G A 3328891 3328891 + Variant 241424 RCV000232265 SCV000290644 238272 PRDM16 NM_022114.3:c.2130G>A NP_071397.3:p.Gly710= NM_022114.3:c.2130G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-03-29 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-29 -1 3328903 G A 3328903 3328903 + Variant 413867 RCV000462221 SCV000556975 391195 PRDM16 NM_022114.3:c.2142G>A NP_071397.3:p.Lys714= NM_022114.3:c.2142G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-05-28 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-05-28 -1 3328933 G A 3328933 3328933 + Variant 391055 RCV000418130 SCV000534030 365033 PRDM16 NM_022114.3:c.2172G>A NP_071397.3:p.Ala724= NM_022114.3:c.2172G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-21 -1 3329042 G A 3329042 3329042 + Variant 406239 RCV000461410 SCV000544790 391197 PRDM16 NM_022114.3:c.2281G>A NP_071397.3:p.Ala761Thr NM_022114.3:c.2281G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-14 -1 3329051 G A 3329051 3329051 + Variant 229162 RCV000217269 SCV000272326;SCV000530498 228446 PRDM16 NM_022114.3:c.2290G>A NP_071397.3:p.Val764Met NM_022114.3:c.2290G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-12-12 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-10-20;2016-12-12 -1 3329051 G A 3329051 3329051 + Variant 229162 RCV000226109 SCV000290645 228446 PRDM16 NM_022114.3:c.2290G>A NP_071397.3:p.Val764Met NM_022114.3:c.2290G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-18 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-18 -1 3329140 G A 3329140 3329140 + Variant 413873 RCV000473649 SCV000556985 391232 PRDM16 NM_022114.3:c.2379G>A NP_071397.3:p.Ser793= NM_022114.3:c.2379G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-12-25 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-25 -1 3329147 G A 3329147 3329147 + Variant 424068 RCV000478115 SCV000573845 405162 PRDM16 NM_022114.3:c.2386G>A NP_071397.3:p.Ala796Thr NM_022114.3:c.2386G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-10 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-10 -1 3329167 G A 3329167 3329167 + Variant 390010 RCV000438891 SCV000532721 365036 PRDM16 NM_022114.3:c.2406G>A NP_071397.3:p.Pro802= NM_022114.3:c.2406G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-14 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-14 -1 3329195 C T 3329195 3329195 + Variant 229163 RCV000221476 SCV000272327 228447 PRDM16 NM_022114.3:c.2434C>T NP_071397.3:p.Arg812Cys NM_022114.3:c.2434C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-02 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-02 -1 3329204 C T 3329204 3329204 + Variant 406222 RCV000468700 SCV000544765 391182 PRDM16 NM_022114.3:c.2443C>T NP_071397.3:p.Gln815Ter NM_022114.3:c.2443C>T:nonsense Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-24 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-04-24 -1 3329208 A G 3329208 3329208 + Variant 60726 RCV000054520 SCV000082998 75286 PRDM16 NM_022114.3:c.2447A>G NP_071397.3:p.Asn816Ser NM_022114.3:c.2447A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-07-11 OMIM OMIM Left ventricular noncompaction 8;LEFT VENTRICULAR NONCOMPACTION 8 23768516 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2013-07-11 -1 3329209 C T 3329209 3329209 + Variant 388234 RCV000421212 SCV000530495 365129 PRDM16 NM_022114.3:c.2448C>T NP_071397.3:p.Asn816= NM_022114.3:c.2448C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-24 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-24 -1 3329209 C T 3329209 3329209 + Variant 388234 RCV000471531 SCV000556976 365129 PRDM16 NM_022114.3:c.2448C>T NP_071397.3:p.Asn816= NM_022114.3:c.2448C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-09 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-09 -1 3329210 G A 3329210 3329210 + Variant 241425 RCV000230075 SCV000290646 238273 PRDM16 NM_022114.3:c.2449G>A NP_071397.3:p.Gly817Ser NM_022114.3:c.2449G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-02-15 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-02-15 -1 3329213 G A 3329213 3329213 + Variant 241426 RCV000232966 SCV000290647 238274 PRDM16 NM_022114.3:c.2452G>A NP_071397.3:p.Gly818Ser NM_022114.3:c.2452G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-16 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-16 -1 3329213 G A 3329213 3329213 + Variant 241426 RCV000418666 SCV000532573 238274 PRDM16 NM_022114.3:c.2452G>A NP_071397.3:p.Gly818Ser NM_022114.3:c.2452G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-11 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-11 -1 3329228 C T 3329228 3329228 + Variant 406245 RCV000471354 SCV000544797 391233 PRDM16 NM_022114.3:c.2467C>T NP_071397.3:p.Arg823Cys NM_022114.3:c.2467C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-07 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-07 -1 3329229 G C 3329229 3329229 + Variant 227865 RCV000223185 SCV000533889;SCV000270755 228448 PRDM16 NM_022114.3:c.2468G>C NP_071397.3:p.Arg823Pro NM_022114.3:c.2468G>C:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2017-05-26 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266;26350513 germline MedGen:CN169374 2016-01-13;2017-05-26 -1 3329229 G C 3329229 3329229 + Variant 227865 RCV000226799 SCV000290648 228448 PRDM16 NM_022114.3:c.2468G>C NP_071397.3:p.Arg823Pro NM_022114.3:c.2468G>C:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-04 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-04 -1 3329263 C T 3329263 3329263 + Variant 227029 RCV000219694 SCV000269726;SCV000520302 228449 PRDM16 NM_022114.3:c.2502C>T NP_071397.3:p.Gly834= NM_022114.3:c.2502C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-06 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-11;2016-10-06 -1 3329267 G A 3329267 3329267 + Variant 227030 RCV000221333 SCV000269727 228450 PRDM16 NM_022114.3:c.2506G>A NP_071397.3:p.Gly836Ser NM_022114.3:c.2506G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2014-11-24 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 -1 3329267 G A 3329267 3329267 + Variant 227030 RCV000469328 SCV000556970 228450 PRDM16 NM_022114.3:c.2506G>A NP_071397.3:p.Gly836Ser NM_022114.3:c.2506G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-12 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-09-12 -1 3329297 C T 3329297 3329297 + Variant 406238 RCV000476374 SCV000544789 391237 PRDM16 NM_022114.3:c.2536C>T NP_071397.3:p.Arg846Trp NM_022114.3:c.2536C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-03 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 -1 3329337 C T 3329337 3329337 + Variant 229164 RCV000215161 SCV000492137;SCV000272328 228451 PRDM16 NM_022114.3:c.2576C>T NP_071397.3:p.Ser859Leu NM_022114.3:c.2576C>T:missense variant Uncertain significance uncertain significance;uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-11-28 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-06-10;2016-11-28 -1 3329337 C T 3329337 3329337 + Variant 229164 RCV000468206 SCV000544791 228451 PRDM16 NM_022114.3:c.2576C>T NP_071397.3:p.Ser859Leu NM_022114.3:c.2576C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-07 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-04-07 -1 3329384 C T 3329384 3329384 + Variant 381194 RCV000433986 SCV000520306 365234 PRDM16 NM_022114.3:c.2603+20C>T NM_022114.3:c.2603+20C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-09-23 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-23 -1 3331154 C T 3331154 3331154 + Variant 227866 RCV000216924 SCV000530820;SCV000270756 228452 PRDM16 NM_022114.3:c.2634C>T NP_071397.3:p.Pro878= NM_022114.3:c.2634C>T:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2017-04-25 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-10-22;2017-04-25 -1 3331154 C T 3331154 3331154 + Variant 227866 RCV000469880 SCV000556979 228452 PRDM16 NM_022114.3:c.2634C>T NP_071397.3:p.Pro878= NM_022114.3:c.2634C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-10 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-10 -1 3331155 G A 3331155 3331155 + Variant 432243 RCV000498032 SCV000589953 425366 PRDM16 NM_022114.3:c.2635G>A NP_071397.3:p.Val879Met NM_022114.3:c.2635G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-05 -1 3331166 G A 3331166 3331166 + Variant 413866 RCV000467739 SCV000556973 391194 PRDM16 NM_022114.3:c.2646G>A NP_071397.3:p.Leu882= NM_022114.3:c.2646G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-26 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-26 -1 3331180 T C 3331180 3331180 + Variant 60729 RCV000054523 SCV000083001 75289 PRDM16 NM_022114.3:c.2660T>C NP_071397.3:p.Leu887Pro NM_022114.3:c.2660T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-07-11 OMIM OMIM Dilated cardiomyopathy 1LL;CARDIOMYOPATHY, DILATED, 1LL 23768516 germline MedGen:CN178850;OMIM:615373 2013-07-11 -1 3331193 G A 3331193 3331193 + Variant 227031 RCV000215017 SCV000525688;SCV000269728 228453 PRDM16 NM_022114.3:c.2673G>A NP_071397.3:p.Pro891= NM_022114.3:c.2673G>A:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-10-11 -1 3331193 G A 3331193 3331193 + Variant 227031 RCV000475588 SCV000556954 228453 PRDM16 NM_022114.3:c.2673G>A NP_071397.3:p.Pro891= NM_022114.3:c.2673G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-23 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-23 -1 3331216 G A 3331216 3331216 + Variant 390179 RCV000437038 SCV000532947 365238 PRDM16 NM_022114.3:c.2691+5G>A NM_022114.3:c.2691+5G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-21 -1 3334382 A G 3334382 3334382 + Variant 390108 RCV000434063 SCV000532849 365235 PRDM16 NM_022114.3:c.2692-10A>G NM_022114.3:c.2692-10A>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-19 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-19 -1 3334382 A G 3334382 3334382 + Variant 390108 RCV000457891 SCV000556963 365235 PRDM16 NM_022114.3:c.2692-10A>G NM_022114.3:c.2692-10A>G:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-06-21 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-21 -1 3334441 T C 3334441 3334441 + Variant 241427 RCV000229654 SCV000290649 238275 PRDM16 NM_022114.3:c.2741T>C NP_071397.3:p.Met914Thr NM_022114.3:c.2741T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-17 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-12-17 -1 3334441 T C 3334441 3334441 + Variant 241427 RCV000493075 SCV000582942 238275 PRDM16 NM_022114.3:c.2741T>C NP_071397.3:p.Met914Thr NM_022114.3:c.2741T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-14 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-14 -1 3334447 C T 3334447 3334447 + Variant 218791 RCV000203205 SCV000258183 215209 PRDM16 NM_022114.3:c.2747C>T NP_071397.3:p.Ala916Val NM_022114.3:c.2747C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-04-12 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;Not specified unknown MedGen:CN169374 2015-04-12 -1 3334480 A C 3334480 3334480 + Variant 373755 RCV000413206 SCV000492376 359242 PRDM16 NM_022114.3:c.2780A>C NP_071397.3:p.His927Pro NM_022114.3:c.2780A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-09 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-09 -1 3334486 C A 3334486 3334486 + Variant 229165 RCV000219521 SCV000577100;SCV000272329 228454 PRDM16 NM_022114.3:c.2786C>A NP_071397.3:p.Pro929His NM_022114.3:c.2786C>A:missense variant Uncertain significance uncertain significance;uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2017-04-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-21;2017-04-11 -1 3334493 C T 3334493 3334493 + Variant 227032 RCV000219295 SCV000531702;SCV000269729 228455 PRDM16 NM_022114.3:c.2793C>T NP_071397.3:p.Asn931= NM_022114.3:c.2793C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-10 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-10-10 -1 3334493 C T 3334493 3334493 + Variant 227032 RCV000233639 SCV000290650 228455 PRDM16 NM_022114.3:c.2793C>T NP_071397.3:p.Asn931= NM_022114.3:c.2793C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-18 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-18 -1 3334505 A ACC 3334509 3334510 + Variant 229166 RCV000221072 SCV000272330 228456 PRDM16 NM_022114.3:c.2809_2810dupCC NP_071397.3:p.Thr938Glnfs NM_022114.3:c.2809_2810dupCC:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-03-02 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-03-02 -1 3334509 C G 3334509 3334509 + Variant 406243 RCV000475724 SCV000544795 391199 PRDM16 NM_022114.3:c.2809C>G NP_071397.3:p.Pro937Ala NM_022114.3:c.2809C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-30 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-30 -1 3334513 C T 3334513 3334513 + Variant 406242 RCV000471782 SCV000544794 391196 PRDM16 NM_022114.3:c.2813C>T NP_071397.3:p.Thr938Met NM_022114.3:c.2813C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-02 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-02 -1 3334515 C G 3334515 3334515 + Variant 373801 RCV000414615 SCV000492424 359349 PRDM16 NM_022114.3:c.2815C>G NP_071397.3:p.Leu939Val NM_022114.3:c.2815C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-14 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-14 -1 3334515 C G 3334515 3334515 + Variant 373801 RCV000474992 SCV000556974 359349 PRDM16 NM_022114.3:c.2815C>G NP_071397.3:p.Leu939Val NM_022114.3:c.2815C>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-05-22 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-05-22 -1 3334556 G A 3334556 3334556 + Variant 227867 RCV000219939 SCV000270757 228457 PRDM16 NM_022114.3:c.2856G>A NP_071397.3:p.Thr952= NM_022114.3:c.2856G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-03-21 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-21 -1 3342127 C T 3342127 3342127 + Variant 392369 RCV000419766 SCV000535630 365132 PRDM16 NM_022114.3:c.2940-18C>T NM_022114.3:c.2940-18C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-05 -1 3342128 G A 3342128 3342128 + Variant 386315 RCV000441639 SCV000527895 365137 PRDM16 NM_022114.3:c.2940-17G>A NM_022114.3:c.2940-17G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-09-28 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-28 -1 3342130 G A 3342130 3342130 + Variant 229167 RCV000214743 SCV000272331 228458 PRDM16 NM_022114.3:c.2940-15G>A NM_022114.3:c.2940-15G>A:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-07-23 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-23 -1 3342158 G A 3342158 3342158 + Variant 373270 RCV000413640 SCV000491853 359356 PRDM16 NM_022114.3:c.2953G>A NP_071397.3:p.Asp985Asn NM_022114.3:c.2953G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-21 -1 3342307 C T 3342307 3342307 + Variant 241428 RCV000226908 SCV000290651 238276 PRDM16 NM_022114.3:c.3102C>T NP_071397.3:p.Asn1034= NM_022114.3:c.3102C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-08 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-08 -1 3342307 C T 3342307 3342307 + Variant 241428 RCV000444388 SCV000521409 238276 PRDM16 NM_022114.3:c.3102C>T NP_071397.3:p.Asn1034= NM_022114.3:c.3102C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-23 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-23 -1 3342324 G A 3342324 3342324 + Variant 227033 RCV000223403 SCV000269730;SCV000529354 228459 PRDM16 NM_022114.3:c.3109+10G>A NM_022114.3:c.3109+10G>A:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-12-05 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-12-05 -1 3342324 G A 3342324 3342324 + Variant 227033 RCV000460045 SCV000556969 228459 PRDM16 NM_022114.3:c.3109+10G>A NM_022114.3:c.3109+10G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-18 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-18 -1 3342326 G C 3342326 3342326 + Variant 227868 RCV000213653 SCV000270758;SCV000525750 228460 PRDM16 NM_022114.3:c.3109+12G>C NM_022114.3:c.3109+12G>C:intron variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-27 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-07-08;2016-10-27 -1 3342611 G A 3342611 3342611 + Variant 227869 RCV000217996 SCV000270759 228461 PRDM16 NM_022114.3:c.3110-4G>A NM_022114.3:c.3110-4G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-04-16 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-16 -1 3342611 G A 3342611 3342611 + Variant 227869 RCV000465584 SCV000556967 228461 PRDM16 NM_022114.3:c.3110-4G>A NM_022114.3:c.3110-4G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-15 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-15 -1 3342629 G A 3342629 3342629 + Variant 426514 RCV000490016 SCV000576974 414796 PRDM16 NM_022114.3:c.3124G>A NP_071397.3:p.Gly1042Arg NM_022114.3:c.3124G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-13 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-13 -1 3342634 C T 3342634 3342634 + Variant 241429 RCV000230873 SCV000290652 238277 PRDM16 NM_022114.3:c.3129C>T NP_071397.3:p.Val1043= NM_022114.3:c.3129C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-11-25 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-11-25 -1 3342635 C T 3342635 3342635 + Variant 227034 RCV000215790 SCV000269731;SCV000528022 228462 PRDM16 NM_022114.3:c.3130C>T NP_071397.3:p.Leu1044Phe NM_022114.3:c.3130C>T:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-12-27 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-12-27 -1 3342635 C T 3342635 3342635 + Variant 227034 RCV000232612 SCV000290653 228462 PRDM16 NM_022114.3:c.3130C>T NP_071397.3:p.Leu1044Phe NM_022114.3:c.3130C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-04-16 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-04-16 -1 3342640 G A 3342640 3342640 + Variant 227870 RCV000220998 SCV000270760 228463 PRDM16 NM_022114.3:c.3135G>A NP_071397.3:p.Thr1045= NM_022114.3:c.3135G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-05-06 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-05-06 -1 3342644 C A 3342644 3342644 + Variant 423292 RCV000486279 SCV000572969 405163 PRDM16 NM_022114.3:c.3139C>A NP_071397.3:p.His1047Asn NM_022114.3:c.3139C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-06 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-06 -1 3342774 C T 3342774 3342774 + Variant 241430 RCV000227583 SCV000290654 238278 PRDM16 NM_022114.3:c.3269C>T NP_071397.3:p.Thr1090Met NM_022114.3:c.3269C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-03-12 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-12 -1 3342775 G A 3342775 3342775 + Variant 413871 RCV000458810 SCV000556983 391340 PRDM16 NM_022114.3:c.3270G>A NP_071397.3:p.Thr1090= NM_022114.3:c.3270G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-26 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-26 -1 3342804 G T 3342804 3342804 + Variant 227035 RCV000218772 SCV000520303;SCV000269732 228464 PRDM16 NM_022114.3:c.3284+15G>T NM_022114.3:c.3284+15G>T:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-23 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-23 -1 3347452 G A 3347452 3347452 + Variant 60727 RCV000054521 SCV000082999 75287 PRDM16 NM_022114.3:c.3301G>A NP_071397.3:p.Val1101Met NM_022114.3:c.3301G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2013-07-11 OMIM OMIM Dilated cardiomyopathy 1LL;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 23768516;27535533 germline MedGen:CN178850;OMIM:615373 2013-07-11 -1 3347452 G A 3347452 3347452 + Variant 60727 RCV000204421 SCV000262005 75287 PRDM16 NM_022114.3:c.3301G>A NP_071397.3:p.Val1101Met NM_022114.3:c.3301G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-10-31 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-10-31 -1 3347452 G A 3347452 3347452 + Variant 60727 RCV000223010 SCV000269733 75287 PRDM16 NM_022114.3:c.3301G>A NP_071397.3:p.Val1101Met NM_022114.3:c.3301G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-04-29 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-29 -1 3347514 G GGAC 3347520 3347522 + Variant 413868 RCV000475206 SCV000556977 391341 PRDM16 NM_022114.3:c.3369_3371dupCGA NP_071397.3:p.Asp1125_Leu1126insAsp Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-14 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-14 -1 3347517 C T 3347517 3347517 + Variant 227871 RCV000213381 SCV000270761 228465 PRDM16 NM_022114.3:c.3366C>T NP_071397.3:p.Asp1122= NM_022114.3:c.3366C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-08-13 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-08-13 -1 3347520 C T 3347520 3347520 + Variant 227036 RCV000216881 SCV000529327;SCV000269734 228466 PRDM16 NM_022114.3:c.3369C>T NP_071397.3:p.Asp1123= NM_022114.3:c.3369C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-06 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-10-06 -1 3347520 C T 3347520 3347520 + Variant 227036 RCV000230406 SCV000290655 228466 PRDM16 NM_022114.3:c.3369C>T NP_071397.3:p.Asp1123= NM_022114.3:c.3369C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-09-16 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-09-16 -1 3347593 G A 3347593 3347593 + Variant 406233 RCV000460254 SCV000544784 391240 PRDM16 NM_022114.3:c.3442G>A NP_071397.3:p.Glu1148Lys NM_022114.3:c.3442G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-18 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-18 -1 3347595 G A 3347595 3347595 + Variant 413862 RCV000464489 SCV000556964 391206 PRDM16 NM_022114.3:c.3444G>A NP_071397.3:p.Glu1148= NM_022114.3:c.3444G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-08-30 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-30 -1 3347605 G A 3347605 3347605 + Variant 406235 RCV000473925 SCV000544786 391207 PRDM16 NM_022114.3:c.3454G>A NP_071397.3:p.Ala1152Thr NM_022114.3:c.3454G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-16 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-16 -1 3348629 A T 3348629 3348629 + Variant 241431 RCV000234393 SCV000290656 238279 PRDM16 NM_022114.3:c.3621A>T NP_071397.3:p.Glu1207Asp NM_022114.3:c.3621A>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-02-24 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-02-24 -1 3348695 T C 3348695 3348695 + Variant 227037 RCV000219826 SCV000269735;SCV000533646 228467 PRDM16 NM_022114.3:c.3687T>C NP_071397.3:p.Ala1229= NM_022114.3:c.3687T>C:synonymous variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-11-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-11-11 -1 3348715 G A 3348715 3348715 + Variant 390334 RCV000438994 SCV000533136 365138 PRDM16 NM_022114.3:c.3696+11G>A NM_022114.3:c.3696+11G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-25 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-25 -1 3350294 C T 3350294 3350294 + Variant 413860 RCV000456779 SCV000556960 391209 PRDM16 NM_022114.3:c.3750C>T NP_071397.3:p.Ser1250= NM_022114.3:c.3750C>T:synonymous variant;NM_199454.2:c.3697-4C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-03 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 -1 3350377 G A 3350377 3350377 + Variant 389898 RCV000440648 SCV000532578 365038 PRDM16 NM_022114.3:c.*2G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-12 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-12 -1 3732936 T C 3732936 3732936 - Variant 221277 RCV000207283 SCV000262599 222988 CEP104 NM_014704.3:c.2572-2A>G NM_014704.3:c.2572-2A>G:splice acceptor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-02 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 -1 3751643 T TA 3751645 3751646 - Variant 221275 RCV000207071 SCV000262597 222986 CEP104 NM_014704.3:c.1328_1329insT NP_055519.1:p.Tyr444Leufs NM_014704.3:c.1328_1329insT:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-02 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 -1 3756170 A G 3756170 3756170 - Variant 221274 RCV000207253 SCV000262596 222985 CEP104 NM_014704.3:c.735+2T>C NM_014704.3:c.735+2T>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-02 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546;7 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 -1 3761541 G A 3761541 3761541 - Variant 221276 RCV000207197 SCV000262598 222987 CEP104 NM_014704.3:c.496C>T NP_055519.1:p.Arg166Ter NM_014704.3:c.496C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-02 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 -1 3768922 TC T 3768923 3768923 - Variant 434718 RCV000501850 SCV000594034 427813 CEP104 NM_014704.3:c.49delG NP_055519.1:p.Asp17Thrfs NM_014704.3:c.49delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-29 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago Joubert syndrome 25;Joubert syndrome 25 20301500;25741868 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2017-03-29 -1 5923011 A C 5923011 5923011 - Variant 297781 RCV000273736 SCV000358382 283011 NPHP4 NM_015102.4:c.*314T>G NM_015102.4:c.*314T>G:3 prime UTR variant;NR_111987.1:n.5410T>G:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 -1 5923011 A C 5923011 5923011 - Variant 297781 RCV000332696 SCV000358383 283011 NPHP4 NM_015102.4:c.*314T>G NM_015102.4:c.*314T>G:3 prime UTR variant;NR_111987.1:n.5410T>G:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 diff --git a/output/b37/single/clinvar_alleles.single.b37.tsv.gz b/output/b37/single/clinvar_alleles.single.b37.tsv.gz index 354304a..45e4327 100644 Binary files a/output/b37/single/clinvar_alleles.single.b37.tsv.gz and b/output/b37/single/clinvar_alleles.single.b37.tsv.gz differ diff --git a/output/b37/single/clinvar_alleles.single.b37.tsv.gz.tbi b/output/b37/single/clinvar_alleles.single.b37.tsv.gz.tbi index 76e7f64..74b2e79 100644 Binary files a/output/b37/single/clinvar_alleles.single.b37.tsv.gz.tbi and b/output/b37/single/clinvar_alleles.single.b37.tsv.gz.tbi differ diff --git a/output/b37/single/clinvar_alleles.single.b37.vcf.gz b/output/b37/single/clinvar_alleles.single.b37.vcf.gz index 1728965..473aa66 100644 Binary files a/output/b37/single/clinvar_alleles.single.b37.vcf.gz and b/output/b37/single/clinvar_alleles.single.b37.vcf.gz differ diff --git a/output/b37/single/clinvar_alleles.single.b37.vcf.gz.tbi b/output/b37/single/clinvar_alleles.single.b37.vcf.gz.tbi index ade4a65..a866674 100644 Binary files a/output/b37/single/clinvar_alleles.single.b37.vcf.gz.tbi and b/output/b37/single/clinvar_alleles.single.b37.vcf.gz.tbi differ diff --git a/output/b37/single/clinvar_alleles_example_750_rows.single.b37.tsv b/output/b37/single/clinvar_alleles_example_750_rows.single.b37.tsv index 769ccec..03fd6ed 100644 --- a/output/b37/single/clinvar_alleles_example_750_rows.single.b37.tsv +++ b/output/b37/single/clinvar_alleles_example_750_rows.single.b37.tsv @@ -1,159 +1,248 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_id symbol hgvs_c hgvs_p molecular_consequence clinical_significance clinical_significance_ordered pathogenic likely_pathogenic uncertain_significance likely_benign benign review_status review_status_ordered last_evaluated all_submitters submitters_ordered all_traits all_pmids inheritance_modes age_of_onset prevalence disease_mechanism origin xrefs dates_ordered gold_stars conflicted +1 949422 G A 949422 949422 + Variant 475283 RCV000537631 SCV000655463 446939 ISG15 NM_005101.3:c.62G>A NP_005092.1:p.Ser21Asn NM_005101.3:c.62G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter May 26, 2017 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-05-26 1 0 1 949523 C T 949523 949523 + Variant 183381 RCV000162196 SCV000212156 181485 ISG15 NM_005101.3:c.163C>T NP_005092.1:p.Gln55Ter NM_005101.3:c.163C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 01, 2015 OMIM OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 25307056 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2015-01-01 0 0 +1 949597 C T 949597 949597 + Variant 475278 RCV000544298 SCV000655458 446987 ISG15 NM_005101.3:c.237C>T NP_005092.1:p.Asp79= NM_005101.3:c.237C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 15, 2017 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-06-15 1 0 1 949608 G A 949608 949608 + Variant 402986 RCV000455759 SCV000539397 389314 ISG15 NM_005101.3:c.248G>A NP_005092.1:p.Ser83Asn NM_005101.3:c.248G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Mar 29, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified 24033266 germline MedGen:CN169374 2016-03-29 1 0 1 949696 C CG 949699 949699 + Variant 161455 RCV000148989 SCV000196037 171289 ISG15 NM_005101.3:c.339dupG NP_005092.1:p.Leu114Alafs NM_005101.3:c.339dupG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 01, 2015 OMIM OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 1;22859821;25307056 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2015-01-01 0 0 1 949739 G T 949739 949739 + Variant 161454 RCV000148988 SCV000196036 171288 ISG15 NM_005101.3:c.379G>T NP_005092.1:p.Glu127Ter NM_005101.3:c.379G>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 01, 2015 OMIM OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 22859821;25307056 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2015-01-01 0 0 -1 955563 G C 955563 955563 + Variant 387476 RCV000424799 SCV000529531 364282 AGRN NM_198576.3:c.11G>C NP_940978.2:p.Arg4Pro NM_198576.3:c.11G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 15, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 1 0 -1 955596 C G 955596 955596 + Variant 377270 RCV000422793 SCV000511620 364148 AGRN NM_198576.3:c.44C>G NP_940978.2:p.Pro15Arg NM_198576.3:c.44C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 03, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-02-03-06:00 1 0 +1 949831 C T 949831 949831 + Variant 475281 RCV000543212 SCV000655461 446936 ISG15 NM_005101.3:c.471C>T NP_005092.1:p.Gly157= NM_005101.3:c.471C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 13, 2017 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-06-13 1 0 +1 949851 G C 949851 949851 + Variant 475282 RCV000559328 SCV000655462 446981 ISG15 NM_005101.3:c.491G>C NP_005092.1:p.Arg164Pro NM_005101.3:c.491G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 04, 2017 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-08-04 1 0 +1 955557 C A 955557 955557 + Variant 474165 RCV000550388 SCV000653986 446941 AGRN NM_198576.3:c.5C>A NP_940978.2:p.Ala2Asp NM_198576.3:c.5C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 22, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-22 1 0 +1 955563 G C 955563 955563 + Variant 387476 RCV000424799;RCV000535257 SCV000529531;SCV000653873 364282 AGRN NM_198576.3:c.11G>C NP_940978.2:p.Arg4Pro NM_198576.3:c.11G>C:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 28, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-07-15;2017-06-28 2 0 +1 955596 C G 955596 955596 + Variant 377270 RCV000422793 SCV000511620 364148 AGRN NM_198576.3:c.44C>G NP_940978.2:p.Pro15Arg NM_198576.3:c.44C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 03, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-02-03 1 0 1 955597 G T 955597 955597 + Variant 128310 RCV000116272 SCV000150190;SCV000519170;SCV000317056 133759 AGRN NM_198576.3:c.45G>T NP_940978.2:p.Pro15= NM_198576.3:c.45G>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Feb 04, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 2014-08-29;0000-00-00;2016-02-04 2 0 1 955601 C T 955601 955601 + Variant 388958 RCV000437701 SCV000531361 364285 AGRN NM_198576.3:c.49C>T NP_940978.2:p.Leu17Phe NM_198576.3:c.49C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 07, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-07 1 0 -1 955619 G C 955619 955619 + Variant 210112 RCV000193277 SCV000317081;SCV000246342 206690 AGRN NM_198576.3:c.67G>C NP_940978.2:p.Val23Leu NM_198576.3:c.67G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Sep 29, 2014 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-09-29;0000-00-00 1 1 +1 955619 G C 955619 955619 + Variant 210112 RCV000193277;RCV000527875 SCV000317081;SCV000246342;SCV000653990 206690 AGRN NM_198576.3:c.67G>C NP_940978.2:p.Val23Leu NM_198576.3:c.67G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign;benign 0 0 1 1 1 criteria provided, conflicting interpretations criteria provided, single submitter Aug 11, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2014-09-29;0000-00-00;2017-08-11 1 1 1 957568 A G 957568 957568 + Variant 263166 RCV000250556 SCV000317015 249265 AGRN NM_198576.3:c.202-13A>G NM_198576.3:c.202-13A>G:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 957605 G A 957605 957605 + Variant 243036 RCV000235037 SCV000292405 244110 AGRN NM_198576.3:c.226G>A NP_940978.2:p.Gly76Ser NM_198576.3:c.226G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347;24951643 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 0 0 -1 957640 C T 957640 957640 + Variant 128296 RCV000116258 SCV000317028;SCV000150176 133745 AGRN NM_198576.3:c.261C>T NP_940978.2:p.Asp87= NM_198576.3:c.261C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 +1 957640 C T 957640 957640 + Variant 128296 RCV000116258;RCV000550396 SCV000317028;SCV000150176;SCV000653894 133745 AGRN NM_198576.3:c.261C>T NP_940978.2:p.Asp87= NM_198576.3:c.261C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 11, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-11 2 0 1 957693 A T 957693 957693 + Variant 243037 RCV000235021 SCV000292406 244111 AGRN NM_198576.3:c.314A>T NP_940978.2:p.Asn105Ile NM_198576.3:c.314A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347;24951643 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 0 0 +1 970687 C T 970687 970687 + Variant 474141 RCV000555748 SCV000653952 446942 AGRN NM_198576.3:c.494C>T NP_940978.2:p.Pro165Leu NM_198576.3:c.494C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-10-26 1 0 1 976059 C T 976059 976059 + Variant 210111 RCV000195231 SCV000246341;SCV000317068 206691 AGRN NM_198576.3:c.526C>T NP_940978.2:p.Leu176= NM_198576.3:c.526C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Oct 28, 2014 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-10-28;0000-00-00 1 1 -1 976554 C G 976554 976554 + Variant 263202 RCV000241878 SCV000317082 249305 AGRN NM_198576.3:c.729C>G NP_940978.2:p.Gly243= NM_198576.3:c.729C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 976563 C T 976563 976563 + Variant 263203 RCV000246662 SCV000317083 249306 AGRN NM_198576.3:c.738C>T NP_940978.2:p.Asp246= NM_198576.3:c.738C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 976112 G A 976112 976112 + Variant 474159 RCV000536149 SCV000653979 447009 AGRN NM_198576.3:c.579G>A NP_940978.2:p.Ala193= NM_198576.3:c.579G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Mar 24, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-24 1 0 +1 976124 CAAG C 976129 976131 + Variant 474163 RCV000550064 SCV000653983 446960 AGRN NM_198576.3:c.596_598delAGA NP_940978.2:p.Lys199del Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 17, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-02-17 1 0 +1 976554 C G 976554 976554 + Variant 263202 RCV000241878;RCV000540327 SCV000317082;SCV000653991 249305 AGRN NM_198576.3:c.729C>G NP_940978.2:p.Gly243= NM_198576.3:c.729C>G:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 11, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-11 2 0 +1 976563 C T 976563 976563 + Variant 263203 RCV000246662;RCV000551940 SCV000317083;SCV000653992 249306 AGRN NM_198576.3:c.738C>T NP_940978.2:p.Asp246= NM_198576.3:c.738C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 02, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-02 2 0 1 976577 T C 976577 976577 + Variant 430121 RCV000492793 SCV000582847 421151 AGRN NM_198576.3:c.752T>C NP_940978.2:p.Val251Ala NM_198576.3:c.752T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 22, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-22 1 0 -1 976598 C T 976598 976598 + Variant 263204 RCV000249809 SCV000317084;SCV000593067 249307 AGRN NM_198576.3:c.773C>T NP_940978.2:p.Thr258Ile NM_198576.3:c.773C>T:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Nov 11, 2015 PreventionGenetics;Genetic Services Laboratory, University of Chicago PreventionGenetics;Genetic Services Laboratory, University of Chicago not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2015-11-11 2 0 -1 976629 C T 976629 976629 + Variant 128320 RCV000116282 SCV000150200;SCV000526741 133769 AGRN NM_198576.3:c.804C>T NP_940978.2:p.Ala268= NM_198576.3:c.804C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 20, 2016 GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;GeneDx not specified;AllHighlyPenetrant;not specified 18414213 germline MedGen:CN169374 2013-08-15;2016-09-20 2 0 +1 976598 C T 976598 976598 + Variant 263204 RCV000249809;RCV000532513 SCV000317084;SCV000593067;SCV000653993 249307 AGRN NM_198576.3:c.773C>T NP_940978.2:p.Thr258Ile NM_198576.3:c.773C>T:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 11, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2015-11-11;2017-08-11 2 0 +1 976629 C T 976629 976629 + Variant 128320 RCV000116282;RCV000545263 SCV000150200;SCV000612304;SCV000526741;SCV000653994 133769 AGRN NM_198576.3:c.804C>T NP_940978.2:p.Ala268= NM_198576.3:c.804C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 04, 2017 Athena Diagnostics Inc;GeneDx;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;GeneDx;Athena Diagnostics Inc;Invitae not specified;AllHighlyPenetrant;Myasthenic syndrome, congenital, 8 18414213;26467025;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2013-08-15;2016-09-20;2016-06-16;2017-08-04 2 0 +1 976654 C T 976654 976654 + Variant 474169 RCV000553169 SCV000653995 446994 AGRN NM_198576.3:c.829C>T NP_940978.2:p.Arg277Cys NM_198576.3:c.829C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 18, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-18 1 0 +1 976959 C G 976959 976959 + Variant 474095 RCV000533556 SCV000653867 446995 AGRN NM_198576.3:c.1054C>G NP_940978.2:p.Arg352Gly NM_198576.3:c.1054C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 23, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-23 1 0 1 976962 C T 976962 976962 + Variant 126556 RCV000114428;RCV000235030 SCV000148370;SCV000292407 132069 AGRN NM_198576.3:c.1057C>T NP_940978.2:p.Gln353Ter NM_198576.3:c.1057C>T:nonsense Pathogenic pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 OMIM;GeneReviews OMIM;GeneReviews Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8;Congenital myasthenic syndrome 20301347;22205389 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590;MedGen:C0751882;OMIM:PS601462 2012-07-01;2016-07-14 0 0 -1 976963 A G 976963 976963 + Variant 128291 RCV000116253 SCV000150171;SCV000529532 133740 AGRN NM_198576.3:c.1058A>G NP_940978.2:p.Gln353Arg NM_198576.3:c.1058A>G:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Nov 10, 2016 GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;GeneDx not specified;AllHighlyPenetrant;not specified germline MedGen:CN169374 0000-00-00;2016-11-10 1 0 -1 977028 G T 977028 977028 + Variant 263158 RCV000243499;RCV000430046 SCV000334297;SCV000317005;SCV000593068;SCV000511758 249308 AGRN NM_198576.3:c.1123G>T NP_940978.2:p.Ala375Ser NM_198576.3:c.1123G>T:missense variant Likely benign likely benign 0 0 0 4 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Feb 02, 2017 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Genetic Services Laboratory, University of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Genetic Services Laboratory, University of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;NOT SPECIFIED;not provided 25741868 germline MedGen:CN169374;MedGen:CN221809 0000-00-00;2015-09-14;2017-02-02;2016-12-30-06:00 2 0 +1 976963 A G 976963 976963 + Variant 128291 RCV000116253;RCV000545898 SCV000150171;SCV000529532;SCV000653868 133740 AGRN NM_198576.3:c.1058A>G NP_940978.2:p.Gln353Arg NM_198576.3:c.1058A>G:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 08, 2017 GeneDx;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;GeneDx;Invitae not specified;AllHighlyPenetrant;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-11-10;2017-08-08 2 0 +1 977028 G T 977028 977028 + Variant 263158 RCV000243499;RCV000430046;RCV000557729 SCV000334297;SCV000317005;SCV000593068;SCV000511758;SCV000653869 249308 AGRN NM_198576.3:c.1123G>T NP_940978.2:p.Ala375Ser NM_198576.3:c.1123G>T:missense variant Benign/Likely benign likely benign;benign 0 0 0 4 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 08, 2017 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Genetic Services Laboratory, University of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Genetic Services Laboratory, University of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae not specified;NOT SPECIFIED;not provided;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;MedGen:CN517202;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2015-09-14;2017-02-02;2016-12-30;2017-08-08 2 0 +1 977035 G A 977035 977035 + Variant 474096 RCV000533895 SCV000653870 447000 AGRN NM_198576.3:c.1130G>A NP_940978.2:p.Arg377Gln NM_198576.3:c.1130G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 05, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 1 0 +1 977050 A G 977050 977050 + Variant 474097 RCV000546257 SCV000653871 447003 AGRN NM_198576.3:c.1145A>G NP_940978.2:p.Gln382Arg NM_198576.3:c.1145A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 24, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-24 1 0 1 977330 T C 977330 977330 + Variant 128292 RCV000116254 SCV000150172;SCV000519171;SCV000317006 133741 AGRN NM_198576.3:c.1178-6T>C NM_198576.3:c.1178-6T>C:intron variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 2 0 +1 977356 C T 977356 977356 + Variant 474098 RCV000558783 SCV000653872 447005 AGRN NM_198576.3:c.1198C>T NP_940978.2:p.Arg400Trp NM_198576.3:c.1198C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 11, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-11 1 0 1 977516 T TC 977520 977520 + Variant 243038 RCV000235036 SCV000292408 244112 AGRN NM_198576.3:c.1362dupC NP_940978.2:p.Ser455GlnfsTer8 NM_198576.3:c.1362dupC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 0 0 1 977570 G A 977570 977570 + Variant 263159 RCV000251375 SCV000317007 249309 AGRN NM_198576.3:c.1384+28G>A NM_198576.3:c.1384+28G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 978603 CCT C 978604 978605 + Variant 263160 RCV000244801 SCV000317008 249310 AGRN NM_198576.3:c.1385-15_1385-14delCT NM_198576.3:c.1385-15_1385-14delCT:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jan 27, 2016 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2016-01-27 1 0 1 978628 C T 978628 978628 + Variant 263161 RCV000249555 SCV000317009 249311 AGRN NM_198576.3:c.1394C>T NP_940978.2:p.Pro465Leu NM_198576.3:c.1394C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 978668 G A 978668 978668 + Variant 263162 RCV000254334 SCV000317010 249312 AGRN NM_198576.3:c.1434G>A NP_940978.2:p.Thr478= NM_198576.3:c.1434G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 978762 G A 978762 978762 + Variant 263163 RCV000244472 SCV000519329;SCV000317011 249313 AGRN NM_198576.3:c.1528G>A NP_940978.2:p.Gly510Ser NM_198576.3:c.1528G>A:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Oct 24, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-10-24 2 0 +1 978629 G A 978629 978629 + Variant 474099 RCV000547860 SCV000653874 447016 AGRN NM_198576.3:c.1395G>A NP_940978.2:p.Pro465= NM_198576.3:c.1395G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-01 1 0 +1 978635 A G 978635 978635 + Variant 474100 RCV000528299 SCV000653875 446944 AGRN NM_198576.3:c.1401A>G NP_940978.2:p.Pro467= NM_198576.3:c.1401A>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 06, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-06 1 0 +1 978668 G A 978668 978668 + Variant 263162 RCV000254334;RCV000536310 SCV000317010;SCV000653876 249312 AGRN NM_198576.3:c.1434G>A NP_940978.2:p.Thr478= NM_198576.3:c.1434G>A:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 04, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-04 2 0 +1 978762 G A 978762 978762 + Variant 263163 RCV000244472;RCV000548068 SCV000612295;SCV000519329;SCV000317011;SCV000653877 249313 AGRN NM_198576.3:c.1528G>A NP_940978.2:p.Gly510Ser NM_198576.3:c.1528G>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 11, 2017 PreventionGenetics;GeneDx;Athena Diagnostics Inc;Invitae PreventionGenetics;GeneDx;Athena Diagnostics Inc;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;26467025;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-10-24;2016-09-15;2017-08-11 2 0 +1 978773 C T 978773 978773 + Variant 474101 RCV000528770 SCV000653878 447008 AGRN NM_198576.3:c.1539C>T NP_940978.2:p.Cys513= NM_198576.3:c.1539C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 28, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-28 1 0 +1 978804 C T 978804 978804 + Variant 446814 RCV000516394 SCV000612296 440337 AGRN NM_198576.3:c.1570C>T NP_940978.2:p.Arg524Trp NM_198576.3:c.1570C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 12, 2016 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2016-10-12 1 0 1 978856 G A 978856 978856 + Variant 263164 RCV000249242 SCV000317012 249314 AGRN NM_198576.3:c.1603+19G>A NM_198576.3:c.1603+19G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 978974 G A 978974 978974 + Variant 263165 RCV000254010 SCV000317013 249315 AGRN NM_198576.3:c.1660G>A NP_940978.2:p.Val554Met NM_198576.3:c.1660G>A:missense variant Benign/Likely benign benign 0 0 0 0 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Feb 23, 2017 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 2 0 +1 978974 G A 978974 978974 + Variant 263165 RCV000254010;RCV000514542;RCV000541064 SCV000317013;SCV000609853;SCV000653879 249315 AGRN NM_198576.3:c.1660G>A NP_940978.2:p.Val554Met NM_198576.3:c.1660G>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 26, 2017 PreventionGenetics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae PreventionGenetics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae not specified;NOT SPECIFIED;not provided;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;MedGen:CN517202;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-02-23;2017-07-26 2 0 +1 979035 A T 979035 979035 + Variant 474102 RCV000553694 SCV000653880 447013 AGRN NM_198576.3:c.1721A>T NP_940978.2:p.Tyr574Phe NM_198576.3:c.1721A>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 06, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-01-06 1 0 1 979310 G A 979310 979310 + Variant 390111 RCV000443642 SCV000532853 364314 AGRN NM_198576.3:c.1906G>A NP_940978.2:p.Gly636Ser NM_198576.3:c.1906G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 20, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-20 1 0 -1 979397 G A 979397 979397 + Variant 210106 RCV000192681 SCV000317014;SCV000246336 206692 AGRN NM_198576.3:c.1993G>A NP_940978.2:p.Glu665Lys NM_198576.3:c.1993G>A:missense variant Benign/Likely benign uncertain significance;likely benign 0 0 1 1 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Feb 13, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 18414213;25741868 germline MedGen:CN169374 2014-04-30;0000-00-00 2 0 -1 979514 C G 979514 979514 + Variant 128293 RCV000116255 SCV000317016;SCV000150173 133742 AGRN NM_198576.3:c.2025C>G NP_940978.2:p.Gly675= NM_198576.3:c.2025C>G:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 -1 979556 G A 979556 979556 + Variant 263167 RCV000245482 SCV000317017 249316 AGRN NM_198576.3:c.2067G>A NP_940978.2:p.Gln689= NM_198576.3:c.2067G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 979748 A T 979748 979748 + Variant 128294 RCV000116256 SCV000519187;SCV000317018;SCV000150174 133743 AGRN NM_198576.3:c.2183A>T NP_940978.2:p.Glu728Val NM_198576.3:c.2183A>T:missense variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter May 26, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-05-26 2 0 +1 979397 G A 979397 979397 + Variant 210106 RCV000192681;RCV000525581 SCV000317014;SCV000246336;SCV000653881 206692 AGRN NM_198576.3:c.1993G>A NP_940978.2:p.Glu665Lys NM_198576.3:c.1993G>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 01, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-02-13;0000-00-00;2017-05-01 2 0 +1 979514 C G 979514 979514 + Variant 128293 RCV000116255;RCV000542722 SCV000317016;SCV000150173;SCV000653882 133742 AGRN NM_198576.3:c.2025C>G NP_940978.2:p.Gly675= NM_198576.3:c.2025C>G:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 02, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-02 2 0 +1 979556 G A 979556 979556 + Variant 263167 RCV000245482;RCV000555033 SCV000317017;SCV000653883 249316 AGRN NM_198576.3:c.2067G>A NP_940978.2:p.Gln689= NM_198576.3:c.2067G>A:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 19, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-07-19 2 0 +1 979559 C T 979559 979559 + Variant 474103 RCV000531210 SCV000653884 447019 AGRN NM_198576.3:c.2070C>T NP_940978.2:p.Arg690= NM_198576.3:c.2070C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 26, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-26 1 0 +1 979748 A T 979748 979748 + Variant 128294 RCV000116256;RCV000542916 SCV000519187;SCV000317018;SCV000150174;SCV000653885 133743 AGRN NM_198576.3:c.2183A>T NP_940978.2:p.Glu728Val NM_198576.3:c.2183A>T:missense variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 28, 2017 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 18414213;25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2013-08-15;0000-00-00;2016-05-26;2017-07-28 2 0 1 979835 G A 979835 979835 + Variant 263168 RCV000242021 SCV000317019 249317 AGRN NM_198576.3:c.2254+16G>A NM_198576.3:c.2254+16G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 980552 G A 980552 980552 + Variant 263169 RCV000245180 SCV000317020 249318 AGRN NM_198576.3:c.2266G>A NP_940978.2:p.Ala756Thr NM_198576.3:c.2266G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 980552 G A 980552 980552 + Variant 263169 RCV000245180;RCV000555482 SCV000317020;SCV000653886 249318 AGRN NM_198576.3:c.2266G>A NP_940978.2:p.Ala756Thr NM_198576.3:c.2266G>A:missense variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 01, 2016 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-12-01 2 0 1 980557 G A 980557 980557 + Variant 263170 RCV000249944 SCV000317021 249319 AGRN NM_198576.3:c.2271G>A NP_940978.2:p.Pro757= NM_198576.3:c.2271G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 980669 A G 980669 980669 + Variant 387477 RCV000419115 SCV000529533 364327 AGRN NM_198576.3:c.2371+12A>G NM_198576.3:c.2371+12A>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 15, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 1 0 -1 980773 C T 980773 980773 + Variant 128295 RCV000116257 SCV000317022;SCV000150175 133744 AGRN NM_198576.3:c.2406C>T NP_940978.2:p.Gly802= NM_198576.3:c.2406C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 -1 980824 G C 980824 980824 + Variant 190974 RCV000246474 SCV000317023;SCV000221340 188780 AGRN NM_198576.3:c.2457G>C NP_940978.2:p.Gly819= NM_198576.3:c.2457G>C:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 28, 2016 PreventionGenetics;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2016-09-28;0000-00-00 2 0 +1 980773 C T 980773 980773 + Variant 128295 RCV000116257;RCV000531365 SCV000317022;SCV000150175;SCV000653887 133744 AGRN NM_198576.3:c.2406C>T NP_940978.2:p.Gly802= NM_198576.3:c.2406C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 02, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-02 2 0 +1 980791 C T 980791 980791 + Variant 474104 RCV000543993 SCV000653888 447014 AGRN NM_198576.3:c.2424C>T NP_940978.2:p.Ala808= NM_198576.3:c.2424C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-10-26 1 0 +1 980824 G C 980824 980824 + Variant 190974 RCV000246474;RCV000556816 SCV000317023;SCV000221340;SCV000653889 188780 AGRN NM_198576.3:c.2457G>C NP_940978.2:p.Gly819= NM_198576.3:c.2457G>C:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 11, 2017 PreventionGenetics;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;Invitae Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-09-28;0000-00-00;2017-08-11 2 0 1 980840 C T 980840 980840 + Variant 210107 RCV000194095 SCV000246337 206693 AGRN NM_198576.3:c.2473C>T NP_940978.2:p.Arg825Cys NM_198576.3:c.2473C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 14, 2015 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-01-14 1 0 1 980866 T C 980866 980866 + Variant 389918 RCV000443602 SCV000532604 364329 AGRN NM_198576.3:c.2499T>C NP_940978.2:p.Phe833= NM_198576.3:c.2499T>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 12, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-12 1 0 -1 980868 G A 980868 980868 + Variant 387869 RCV000424274 SCV000530043 364336 AGRN NM_198576.3:c.2501G>A NP_940978.2:p.Arg834Gln NM_198576.3:c.2501G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-21 1 0 +1 980868 G A 980868 980868 + Variant 387869 RCV000424274;RCV000545330 SCV000530043;SCV000653891 364336 AGRN NM_198576.3:c.2501G>A NP_940978.2:p.Arg834Gln NM_198576.3:c.2501G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 09, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-10-09;2017-07-17 2 0 +1 980875 C T 980875 980875 + Variant 474105 RCV000533002 SCV000653890 446970 AGRN NM_198576.3:c.2508C>T NP_940978.2:p.Ile836= NM_198576.3:c.2508C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 25, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-25 1 0 +1 980881 C T 980881 980881 + Variant 474106 RCV000557874 SCV000653892 446945 AGRN NM_198576.3:c.2514C>T NP_940978.2:p.Thr838= NM_198576.3:c.2514C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 02, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-02 1 0 1 980948 C T 980948 980948 + Variant 263171 RCV000252843 SCV000317024 249320 AGRN NM_198576.3:c.2536+45C>T NM_198576.3:c.2536+45C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 981087 A G 981087 981087 + Variant 263172 RCV000243014 SCV000317025 249321 AGRN NM_198576.3:c.2537-26A>G NM_198576.3:c.2537-26A>G:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 981131 A G 981131 981131 + Variant 263173 RCV000247794 SCV000317026 249322 AGRN NM_198576.3:c.2555A>G NP_940978.2:p.Gln852Arg NM_198576.3:c.2555A>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 981131 A G 981131 981131 + Variant 263173 RCV000247794;RCV000537771 SCV000317026;SCV000653893 249322 AGRN NM_198576.3:c.2555A>G NP_940978.2:p.Gln852Arg NM_198576.3:c.2555A>G:missense variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 11, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-11 2 0 1 981165 G A 981165 981165 + Variant 263174 RCV000252551 SCV000317027 249323 AGRN NM_198576.3:c.2589G>A NP_940978.2:p.Thr863= NM_198576.3:c.2589G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 981226 C T 981226 981226 + Variant 390809 RCV000425529 SCV000533733 364315 AGRN NM_198576.3:c.2650C>T NP_940978.2:p.Arg884Cys NM_198576.3:c.2650C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 18, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-18 1 0 +1 981227 G A 981227 981227 + Variant 474107 RCV000558118 SCV000653895 447023 AGRN NM_198576.3:c.2651G>A NP_940978.2:p.Arg884His NM_198576.3:c.2651G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 26, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-26 1 0 1 981328 C G 981328 981328 + Variant 263175 RCV000249068 SCV000317029 249324 AGRN NM_198576.3:c.2681-16C>G NM_198576.3:c.2681-16C>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 981345 C T 981345 981345 + Variant 263176 RCV000252248 SCV000317030 249325 AGRN NM_198576.3:c.2682C>T NP_940978.2:p.Asp894= NM_198576.3:c.2682C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 981353 C T 981353 981353 + Variant 235570 RCV000224244 SCV000281252 237251 AGRN NM_198576.3:c.2690C>T NP_940978.2:p.Ala897Val NM_198576.3:c.2690C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 21, 2015 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2015-12-21-06:00 1 0 +1 981345 C T 981345 981345 + Variant 263176 RCV000252248;RCV000534291 SCV000317030;SCV000653896 249325 AGRN NM_198576.3:c.2682C>T NP_940978.2:p.Asp894= NM_198576.3:c.2682C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 25, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-07-25 2 0 +1 981353 C T 981353 981353 + Variant 235570 RCV000224244;RCV000517312;RCV000551727 SCV000281252;SCV000612297;SCV000653897 237251 AGRN NM_198576.3:c.2690C>T NP_940978.2:p.Ala897Val NM_198576.3:c.2690C>T:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 2 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Mar 28, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Athena Diagnostics Inc;Invitae Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Athena Diagnostics Inc;Invitae not provided;not specified;Myasthenic syndrome, congenital, 8 25741868;26467025;20301347;28492532 germline MedGen:CN517202;MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2015-12-21;2017-03-24;2017-03-28 1 1 +1 981376 C T 981376 981376 + Variant 474108 RCV000527891 SCV000653898 447015 AGRN NM_198576.3:c.2713C>T NP_940978.2:p.Arg905Cys NM_198576.3:c.2713C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 26, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-26 1 0 +1 981400 G A 981400 981400 + Variant 474109 RCV000540198 SCV000653899 447029 AGRN NM_198576.3:c.2737G>A NP_940978.2:p.Val913Met NM_198576.3:c.2737G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 08, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-08 1 0 1 981459 C T 981459 981459 + Variant 263177 RCV000244043 SCV000317031 249326 AGRN NM_198576.3:c.2796C>T NP_940978.2:p.Asn932= NM_198576.3:c.2796C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 981475 G A 981475 981475 + Variant 434107 RCV000500875 SCV000593069 427605 AGRN NM_198576.3:c.2805+7G>A NM_198576.3:c.2805+7G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 02, 2016 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-09-02 1 0 +1 981475 G A 981475 981475 + Variant 434107 RCV000500875;RCV000548272 SCV000593069;SCV000653900 427605 AGRN NM_198576.3:c.2805+7G>A NM_198576.3:c.2805+7G>A:intron variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 23, 2016 Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;Invitae not specified;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-09-02;2016-11-23 2 0 +1 981535 C T 981535 981535 + Variant 474110 RCV000528205 SCV000653901 447031 AGRN NM_198576.3:c.2806-5C>T NM_198576.3:c.2806-5C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 19, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-01-19 1 0 +1 981852 C A 981852 981852 + Variant 474111 RCV000540503 SCV000653902 447017 AGRN NM_198576.3:c.2987C>A NP_940978.2:p.Ala996Glu NM_198576.3:c.2987C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 31, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-31 1 0 1 981868 C T 981868 981868 + Variant 263178 RCV000248800 SCV000317032 249327 AGRN NM_198576.3:c.3003C>T NP_940978.2:p.Pro1001= NM_198576.3:c.3003C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 981904 C T 981904 981904 + Variant 474112 RCV000553127 SCV000653903 446946 AGRN NM_198576.3:c.3039C>T NP_940978.2:p.His1013= NM_198576.3:c.3039C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Apr 28, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-28 1 0 +1 981911 A G 981911 981911 + Variant 474113 RCV000529551 SCV000653904 447026 AGRN NM_198576.3:c.3046A>G NP_940978.2:p.Thr1016Ala NM_198576.3:c.3046A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 06, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-06 1 0 1 981931 A G 981931 981931 + Variant 128297 RCV000116259 SCV000519172;SCV000317033;SCV000150177 133746 AGRN NM_198576.3:c.3066A>G NP_940978.2:p.Ser1022= NM_198576.3:c.3066A>G:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 2 0 -1 981942 C A 981942 981942 + Variant 263179 RCV000245361 SCV000317034 249328 AGRN NM_198576.3:c.3077C>A NP_940978.2:p.Thr1026Asn NM_198576.3:c.3077C>A:missense variant Benign/Likely benign benign 0 0 0 0 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Feb 23, 2017 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 2 0 +1 981942 C A 981942 981942 + Variant 263179 RCV000245361;RCV000514069;RCV000542147 SCV000317034;SCV000609941;SCV000653905 249328 AGRN NM_198576.3:c.3077C>A NP_940978.2:p.Thr1026Asn NM_198576.3:c.3077C>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 26, 2017 PreventionGenetics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae PreventionGenetics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae not specified;NOT SPECIFIED;not provided;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;MedGen:CN517202;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-02-23;2017-07-26 2 0 +1 982018 C T 982018 982018 + Variant 474114 RCV000554460 SCV000653906 447034 AGRN NM_198576.3:c.3153C>T NP_940978.2:p.Ser1051= NM_198576.3:c.3153C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 19, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-19 1 0 1 982204 C T 982204 982204 + Variant 387478 RCV000429389 SCV000529534 364294 AGRN NM_198576.3:c.3255C>T NP_940978.2:p.Leu1085= NM_198576.3:c.3255C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 15, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 1 0 -1 982213 G C 982213 982213 + Variant 128298 RCV000116260;RCV000431747 SCV000150178;SCV000317035;SCV000511644 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jan 02, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Genetic Services Laboratory, University of Chicago;PreventionGenetics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;AllHighlyPenetrant;NOT SPECIFIED;not provided 25741868 germline MedGen:CN169374;MedGen:CN221809 0000-00-00;2017-01-02-06:00 2 0 +1 982213 G C 982213 982213 + Variant 128298 RCV000116260;RCV000431747;RCV000530637 SCV000150178;SCV000612298;SCV000317035;SCV000511644;SCV000653907 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 3 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 02, 2017 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;not provided;Myasthenic syndrome, congenital, 8 19631309;25741868;26467025;20301347;28492532 germline MedGen:CN169374;MedGen:CN517202;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-11-07;2017-01-02;2017-08-02 2 0 +1 982225 C T 982225 982225 + Variant 474115 RCV000546931 SCV000653908 447043 AGRN NM_198576.3:c.3276C>T NP_940978.2:p.Ser1092= NM_198576.3:c.3276C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 03, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-03 1 0 1 982234 C G 982234 982234 + Variant 434108 RCV000502690 SCV000593070 427606 AGRN NM_198576.3:c.3285C>G NP_940978.2:p.Thr1095= NM_198576.3:c.3285C>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 11, 2016 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-04-11 1 0 +1 982302 C A 982302 982302 + Variant 474116 RCV000559489 SCV000653909 446971 AGRN NM_198576.3:c.3353C>A NP_940978.2:p.Thr1118Lys NM_198576.3:c.3353C>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter May 19, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-19 1 0 +1 982336 C T 982336 982336 + Variant 474117 RCV000530806 SCV000653910 446948 AGRN NM_198576.3:c.3387C>T NP_940978.2:p.Pro1129= NM_198576.3:c.3387C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 06, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-06 1 0 1 982356 G A 982356 982356 + Variant 263180 RCV000253262 SCV000317036 249329 AGRN NM_198576.3:c.3388+19G>A NM_198576.3:c.3388+19G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 982722 A G 982722 982722 + Variant 128299 RCV000116261 SCV000150179;SCV000317037 133748 AGRN NM_198576.3:c.3404A>G NP_940978.2:p.Gln1135Arg NM_198576.3:c.3404A>G:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 -1 982783 T C 982783 982783 + Variant 128300 RCV000116262 SCV000317038;SCV000150180 133749 AGRN NM_198576.3:c.3465T>C NP_940978.2:p.Ala1155= NM_198576.3:c.3465T>C:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 +1 982722 A G 982722 982722 + Variant 128299 RCV000116261;RCV000543419 SCV000150179;SCV000317037;SCV000653911 133748 AGRN NM_198576.3:c.3404A>G NP_940978.2:p.Gln1135Arg NM_198576.3:c.3404A>G:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 11, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-11 2 0 +1 982774 C T 982774 982774 + Variant 474118 RCV000560784 SCV000653912 446952 AGRN NM_198576.3:c.3456C>T NP_940978.2:p.Pro1152= NM_198576.3:c.3456C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 17, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-17 1 0 +1 982783 T C 982783 982783 + Variant 128300 RCV000116262;RCV000536981 SCV000317038;SCV000150180;SCV000612299;SCV000653913 133749 AGRN NM_198576.3:c.3465T>C NP_940978.2:p.Ala1155= NM_198576.3:c.3465T>C:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jul 26, 2017 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;26467025;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-11-07;2017-07-26 2 0 1 982844 G C 982844 982844 + Variant 128301 RCV000116263 SCV000519306;SCV000317039;SCV000150181;SCV000221341 133750 AGRN NM_198576.3:c.3516+10G>C NM_198576.3:c.3516+10G>C:intron variant Benign/Likely benign likely benign;likely benign;benign;benign 0 0 0 2 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Sep 28, 2016 GeneDx;PreventionGenetics;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-09-28;0000-00-00;2016-02-04 2 0 1 982941 T C 982941 982941 + Variant 263181 RCV000246305 SCV000519173;SCV000317040 249331 AGRN NM_198576.3:c.3517-12T>C NM_198576.3:c.3517-12T>C:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-01-19 2 0 +1 982979 C T 982979 982979 + Variant 474119 RCV000549332 SCV000653914 447038 AGRN NM_198576.3:c.3543C>T NP_940978.2:p.Asp1181= NM_198576.3:c.3543C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 13, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-13 1 0 1 982994 T C 982994 982994 + Variant 128302 RCV000116264 SCV000150182;SCV000317041;SCV000519174 133751 AGRN NM_198576.3:c.3558T>C NP_940978.2:p.Phe1186= NM_198576.3:c.3558T>C:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 2 0 -1 983006 C T 983006 983006 + Variant 128303 RCV000116265 SCV000150183;SCV000317042 133752 AGRN NM_198576.3:c.3570C>T NP_940978.2:p.Arg1190= NM_198576.3:c.3570C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 -1 983221 C T 983221 983221 + Variant 390183 RCV000438400 SCV000532953 364341 AGRN NM_198576.3:c.3697C>T NP_940978.2:p.Arg1233Trp NM_198576.3:c.3697C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 27, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-27 1 0 -1 983243 C T 983243 983243 + Variant 263182 RCV000247622 SCV000317043 249332 AGRN NM_198576.3:c.3719C>T NP_940978.2:p.Pro1240Leu NM_198576.3:c.3719C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 983006 C T 983006 983006 + Variant 128303 RCV000116265;RCV000557303 SCV000150183;SCV000317042;SCV000653915 133752 AGRN NM_198576.3:c.3570C>T NP_940978.2:p.Arg1190= NM_198576.3:c.3570C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter May 30, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-05-30 2 0 +1 983011 G A 983011 983011 + Variant 474121 RCV000549876 SCV000653917 447046 AGRN NM_198576.3:c.3575G>A NP_940978.2:p.Arg1192Gln NM_198576.3:c.3575G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 11, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-11 1 0 +1 983194 C T 983194 983194 + Variant 474122 RCV000525731 SCV000653918 447042 AGRN NM_198576.3:c.3670C>T NP_940978.2:p.Leu1224Phe NM_198576.3:c.3670C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 05, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 1 0 +1 983218 C A 983218 983218 + Variant 474123 RCV000538314 SCV000653919 447048 AGRN NM_198576.3:c.3694C>A NP_940978.2:p.Arg1232Ser NM_198576.3:c.3694C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 26, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-26 1 0 +1 983221 C T 983221 983221 + Variant 390183 RCV000438400;RCV000551217 SCV000532953;SCV000653920 364341 AGRN NM_198576.3:c.3697C>T NP_940978.2:p.Arg1233Trp NM_198576.3:c.3697C>T:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 26, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-10-27;2017-05-26 2 0 +1 983222 G A 983222 983222 + Variant 474124 RCV000527356 SCV000653921 447054 AGRN NM_198576.3:c.3698G>A NP_940978.2:p.Arg1233Gln NM_198576.3:c.3698G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 26, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-26 1 0 +1 983243 C T 983243 983243 + Variant 263182 RCV000247622;RCV000539671 SCV000317043;SCV000653922 249332 AGRN NM_198576.3:c.3719C>T NP_940978.2:p.Pro1240Leu NM_198576.3:c.3719C>T:missense variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 11, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-05-11 2 0 1 983256 C T 983256 983256 + Variant 210108 RCV000195120 SCV000317044;SCV000246338 206694 AGRN NM_198576.3:c.3732C>T NP_940978.2:p.His1244= NM_198576.3:c.3732C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Aug 06, 2014 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-08-06;0000-00-00 1 1 1 983386 C T 983386 983386 + Variant 210109 RCV000192787 SCV000246339 206695 AGRN NM_198576.3:c.3752-6C>T NM_198576.3:c.3752-6C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 12, 2015 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-06-12 1 0 +1 983413 C T 983413 983413 + Variant 474125 RCV000552295 SCV000653923 446955 AGRN NM_198576.3:c.3773C>T NP_940978.2:p.Thr1258Met NM_198576.3:c.3773C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 30, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-30 1 0 +1 983423 G A 983423 983423 + Variant 474126 RCV000532144 SCV000653924 446956 AGRN NM_198576.3:c.3783G>A NP_940978.2:p.Thr1261= NM_198576.3:c.3783G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 16, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-16 1 0 1 983459 C T 983459 983459 + Variant 390522 RCV000426153 SCV000533375 364331 AGRN NM_198576.3:c.3819C>T NP_940978.2:p.Ala1273= NM_198576.3:c.3819C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 10, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-10 1 0 1 983496 C A 983496 983496 + Variant 434109 RCV000504469 SCV000593071 427607 AGRN NM_198576.3:c.3856C>A NP_940978.2:p.Pro1286Thr NM_198576.3:c.3856C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 02, 2017 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2017-02-02 1 0 -1 983506 C T 983506 983506 + Variant 128304 RCV000116266 SCV000317045;SCV000150184 133753 AGRN NM_198576.3:c.3866C>T NP_940978.2:p.Pro1289Leu NM_198576.3:c.3866C>T:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 -1 983604 C T 983604 983604 + Variant 128305 RCV000116267 SCV000317046;SCV000150185 133754 AGRN NM_198576.3:c.3964C>T NP_940978.2:p.Arg1322Trp NM_198576.3:c.3964C>T:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 -1 983612 G A 983612 983612 + Variant 128306 RCV000116268 SCV000317047;SCV000150186 133755 AGRN NM_198576.3:c.3972G>A NP_940978.2:p.Pro1324= NM_198576.3:c.3972G>A:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 +1 983499 C T 983499 983499 + Variant 474127 RCV000540137 SCV000653925 447050 AGRN NM_198576.3:c.3859C>T NP_940978.2:p.Arg1287Trp NM_198576.3:c.3859C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 17, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-17 1 0 +1 983506 C T 983506 983506 + Variant 128304 RCV000116266;RCV000552486 SCV000317045;SCV000612300;SCV000150184;SCV000653926 133753 AGRN NM_198576.3:c.3866C>T NP_940978.2:p.Pro1289Leu NM_198576.3:c.3866C>T:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jul 26, 2017 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;26467025;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-11-07;2017-07-26 2 0 +1 983507 G A 983507 983507 + Variant 474120 RCV000537189 SCV000653916 446973 AGRN NM_198576.3:c.3867G>A NP_940978.2:p.Pro1289= NM_198576.3:c.3867G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 17, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-17 1 0 +1 983566 G A 983566 983566 + Variant 474128 RCV000533178 SCV000653927 447069 AGRN NM_198576.3:c.3926G>A NP_940978.2:p.Arg1309Gln NM_198576.3:c.3926G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 03, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-03 1 0 +1 983604 C T 983604 983604 + Variant 128305 RCV000116267;RCV000546079 SCV000317046;SCV000150185;SCV000653928 133754 AGRN NM_198576.3:c.3964C>T NP_940978.2:p.Arg1322Trp NM_198576.3:c.3964C>T:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jun 22, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-06-22 2 0 +1 983612 G A 983612 983612 + Variant 128306 RCV000116268;RCV000554114 SCV000317047;SCV000150186;SCV000653929 133755 AGRN NM_198576.3:c.3972G>A NP_940978.2:p.Pro1324= NM_198576.3:c.3972G>A:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jun 22, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-06-22 2 0 1 984257 C T 984257 984257 + Variant 210110 RCV000193826 SCV000246340 206696 AGRN NM_198576.3:c.4116C>T NP_940978.2:p.Ala1372= NM_198576.3:c.4116C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 04, 2015 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-05-04 1 0 1 984261 G T 984261 984261 + Variant 389927 RCV000438345 SCV000532615 364318 AGRN NM_198576.3:c.4120G>T NP_940978.2:p.Val1374Leu NM_198576.3:c.4120G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 13, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-13 1 0 -1 984272 C T 984272 984272 + Variant 392687 RCV000445318 SCV000535996 364322 AGRN NM_198576.3:c.4131C>T NP_940978.2:p.Phe1377= NM_198576.3:c.4131C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 10, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-10 1 0 +1 984272 C T 984272 984272 + Variant 392687 RCV000445318;RCV000529978 SCV000535996;SCV000653930 364322 AGRN NM_198576.3:c.4131C>T NP_940978.2:p.Phe1377= NM_198576.3:c.4131C>T:synonymous variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 27, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-01-10;2017-07-27 2 0 1 984302 T C 984302 984302 + Variant 128307 RCV000116269 SCV000519276;SCV000150187;SCV000317048 133756 AGRN NM_198576.3:c.4161T>C NP_940978.2:p.Thr1387= NM_198576.3:c.4161T>C:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 2 0 -1 984426 C T 984426 984426 + Variant 263183 RCV000248636 SCV000317049 249333 AGRN NM_198576.3:c.4285C>T NP_940978.2:p.Arg1429Cys NM_198576.3:c.4285C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 984324 C T 984324 984324 + Variant 474129 RCV000547145 SCV000653931 447070 AGRN NM_198576.3:c.4183C>T NP_940978.2:p.Arg1395Cys NM_198576.3:c.4183C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 14, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-02-14 1 0 +1 984413 G A 984413 984413 + Variant 474130 RCV000558841 SCV000653932 446962 AGRN NM_198576.3:c.4272G>A NP_940978.2:p.Ala1424= NM_198576.3:c.4272G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 11, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-11 1 0 +1 984426 C T 984426 984426 + Variant 263183 RCV000248636;RCV000534784 SCV000317049;SCV000612301;SCV000653933 249333 AGRN NM_198576.3:c.4285C>T NP_940978.2:p.Arg1429Cys NM_198576.3:c.4285C>T:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 25, 2017 PreventionGenetics;Athena Diagnostics Inc;Invitae PreventionGenetics;Athena Diagnostics Inc;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;26467025;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-07-25;2017-04-26 2 0 +1 984445 C T 984445 984445 + Variant 474131 RCV000542837 SCV000653934 447053 AGRN NM_198576.3:c.4298+6C>T NM_198576.3:c.4298+6C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 22, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 1 0 1 984450 A T 984450 984450 + Variant 263184 RCV000251783 SCV000317050 249334 AGRN NM_198576.3:c.4298+11A>T NM_198576.3:c.4298+11A>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 984456 C T 984456 984456 + Variant 387479 RCV000440496 SCV000529535 364323 AGRN NM_198576.3:c.4298+17C>T NM_198576.3:c.4298+17C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-26 1 0 -1 984669 C T 984669 984669 + Variant 263185 RCV000243502 SCV000317051;SCV000593072 249335 AGRN NM_198576.3:c.4352C>T NP_940978.2:p.Pro1451Leu NM_198576.3:c.4352C>T:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Dec 23, 2016 PreventionGenetics;Genetic Services Laboratory, University of Chicago PreventionGenetics;Genetic Services Laboratory, University of Chicago not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-12-23 2 0 -1 984769 C T 984769 984769 + Variant 128308 RCV000116270 SCV000317052;SCV000150188 133757 AGRN NM_198576.3:c.4452C>T NP_940978.2:p.Thr1484= NM_198576.3:c.4452C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 +1 984637 G A 984637 984637 + Variant 474132 RCV000560225 SCV000653935 446965 AGRN NM_198576.3:c.4320G>A NP_940978.2:p.Pro1440= NM_198576.3:c.4320G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 12, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-12 1 0 +1 984640 G A 984640 984640 + Variant 487335 RCV000576290 SCV000677101 446975 AGRN NM_198576.3:c.4323G>A NP_940978.2:p.Ala1441= NM_198576.3:c.4323G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 25, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-25 1 0 +1 984669 C T 984669 984669 + Variant 263185 RCV000243502;RCV000533961 SCV000317051;SCV000593072;SCV000653936 249335 AGRN NM_198576.3:c.4352C>T NP_940978.2:p.Pro1451Leu NM_198576.3:c.4352C>T:missense variant Likely benign likely benign 0 0 0 3 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 28, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-12-23;2017-07-28 2 0 +1 984696 C A 984696 984696 + Variant 474133 RCV000546585 SCV000653937 447074 AGRN NM_198576.3:c.4379C>A NP_940978.2:p.Ser1460Tyr NM_198576.3:c.4379C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 22, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 1 0 +1 984769 C T 984769 984769 + Variant 128308 RCV000116270;RCV000558276 SCV000317052;SCV000150188;SCV000653938 133757 AGRN NM_198576.3:c.4452C>T NP_940978.2:p.Thr1484= NM_198576.3:c.4452C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Nov 23, 2016 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-11-23 2 0 +1 984787 C T 984787 984787 + Variant 474134 RCV000534207 SCV000653939 447077 AGRN NM_198576.3:c.4470C>T NP_940978.2:p.Asp1490= NM_198576.3:c.4470C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 08, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-08 1 0 1 984847 G C 984847 984847 + Variant 263186 RCV000253016 SCV000317053;SCV000526742 249336 AGRN NM_198576.3:c.4514+16G>C NM_198576.3:c.4514+16G>C:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 20, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-09-20 2 0 1 984949 G A 984949 984949 + Variant 263187 RCV000244907 SCV000317054 249337 AGRN NM_198576.3:c.4518G>A NP_940978.2:p.Ala1506= NM_198576.3:c.4518G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 984971 G A 984971 984971 + Variant 128309 RCV000116271 SCV000150189;SCV000317055 133758 AGRN NM_198576.3:c.4540G>A NP_940978.2:p.Ala1514Thr NM_198576.3:c.4540G>A:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jul 05, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 2 0 -1 985070 G A 985070 985070 + Variant 252808 RCV000238604 SCV000297407;SCV000593075;SCV000564550 246856 AGRN NM_198576.3:c.4639G>A NP_940978.2:p.Glu1547Lys NM_198576.3:c.4639G>A:missense variant Uncertain significance uncertain significance;uncertain significance;uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jan 23, 2017 Genetic Services Laboratory, University of Chicago;GeneDx;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;GeneDx;Genetic Services Laboratory, University of Chicago not specified;not specified;not specified;not specified 25741868 germline;unknown MedGen:CN169374 2015-09-18;2017-01-23;2015-09-21 2 0 -1 985126 G C 985126 985126 + Variant 387480 RCV000419307 SCV000529536 364295 AGRN NM_198576.3:c.4695G>C NP_940978.2:p.Gln1565His NM_198576.3:c.4695G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 15, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 1 0 +1 984971 G A 984971 984971 + Variant 128309 RCV000116271;RCV000514020;RCV000551508 SCV000150189;SCV000317055;SCV000610743;SCV000653940 133758 AGRN NM_198576.3:c.4540G>A NP_940978.2:p.Ala1514Thr NM_198576.3:c.4540G>A:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jul 25, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;not provided;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;MedGen:CN517202;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-07-05;2017-07-25 2 0 +1 985043 G T 985043 985043 + Variant 474135 RCV000527524 SCV000653941 447078 AGRN NM_198576.3:c.4612G>T NP_940978.2:p.Ala1538Ser NM_198576.3:c.4612G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 18, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-18 1 0 +1 985053 G A 985053 985053 + Variant 474136 RCV000535699 SCV000653942 446978 AGRN NM_198576.3:c.4622G>A NP_940978.2:p.Arg1541Gln NM_198576.3:c.4622G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 27, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-27 1 0 +1 985070 G A 985070 985070 + Variant 252808 RCV000238604;RCV000548184 SCV000297407;SCV000593075;SCV000564550;SCV000653943 246856 AGRN NM_198576.3:c.4639G>A NP_940978.2:p.Glu1547Lys NM_198576.3:c.4639G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 3 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Sep 25, 2017 Genetic Services Laboratory, University of Chicago;GeneDx;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;Invitae Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;GeneDx;Genetic Services Laboratory, University of Chicago;Invitae not specified;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline;unknown MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2015-09-18;2017-09-25;2015-09-21;2017-06-29 1 1 +1 985082 C T 985082 985082 + Variant 474137 RCV000529000 SCV000653944 446997 AGRN NM_198576.3:c.4651C>T NP_940978.2:p.His1551Tyr NM_198576.3:c.4651C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 05, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-12-05 1 0 +1 985126 G C 985126 985126 + Variant 387480 RCV000419307;RCV000541465 SCV000529536;SCV000653945 364295 AGRN NM_198576.3:c.4695G>C NP_940978.2:p.Gln1565His NM_198576.3:c.4695G>C:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 05, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-07-15;2017-06-05 2 0 1 985162 G A 985162 985162 + Variant 434110 RCV000502846 SCV000593073 427608 AGRN NM_198576.3:c.4731G>A NP_940978.2:p.Pro1577= NM_198576.3:c.4731G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 01, 2016 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-08-01 1 0 -1 985171 C T 985171 985171 + Variant 128311 RCV000116273 SCV000150191;SCV000317057 133760 AGRN NM_198576.3:c.4740C>T NP_940978.2:p.Arg1580= NM_198576.3:c.4740C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 +1 985171 C T 985171 985171 + Variant 128311 RCV000116273;RCV000553091 SCV000150191;SCV000612302;SCV000317057;SCV000653946 133760 AGRN NM_198576.3:c.4740C>T NP_940978.2:p.Arg1580= NM_198576.3:c.4740C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 02, 2017 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;26467025;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-07-24;2017-08-02 2 0 1 985266 C T 985266 985266 + Variant 263188 RCV000250964 SCV000519277;SCV000317058 249338 AGRN NM_198576.3:c.4745-17C>T NM_198576.3:c.4745-17C>T:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-01-19 2 0 1 985307 GCCCCTGCCAGCCCAA G 985317 985331 + Variant 291137 RCV000296346 SCV000345838 275374 AGRN NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA NP_940978.2:p.Gln1593_Cys1597del NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 06, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-06 1 0 -1 985377 C T 985377 985377 + Variant 263189 RCV000254107 SCV000317059 249339 AGRN NM_198576.3:c.4839C>T NP_940978.2:p.Cys1613= NM_198576.3:c.4839C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 985407 C A 985407 985407 + Variant 282708 RCV000405008 SCV000334296 266945 AGRN NM_198576.3:c.4869C>A NP_940978.2:p.Phe1623Leu NM_198576.3:c.4869C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 14, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-08-14 1 0 +1 985359 C T 985359 985359 + Variant 474138 RCV000524551 SCV000653947 447081 AGRN NM_198576.3:c.4821C>T NP_940978.2:p.Pro1607= NM_198576.3:c.4821C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Nov 30, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-30 1 0 +1 985377 C T 985377 985377 + Variant 263189 RCV000254107;RCV000541799 SCV000317059;SCV000653948 249339 AGRN NM_198576.3:c.4839C>T NP_940978.2:p.Cys1613= NM_198576.3:c.4839C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 13, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-06-13 2 0 +1 985378 G A 985378 985378 + Variant 474139 RCV000554546 SCV000653949 446967 AGRN NM_198576.3:c.4840G>A NP_940978.2:p.Glu1614Lys NM_198576.3:c.4840G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 16, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-16 1 0 +1 985407 C A 985407 985407 + Variant 282708 RCV000405008;RCV000530565 SCV000334296;SCV000653950 266945 AGRN NM_198576.3:c.4869C>A NP_940978.2:p.Phe1623Leu NM_198576.3:c.4869C>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 02, 2017 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae not specified;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2015-08-14;2017-08-02 2 0 1 985434 T A 985434 985434 + Variant 263190 RCV000245933 SCV000317060 249340 AGRN NM_198576.3:c.4879+17T>A NM_198576.3:c.4879+17T>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 985446 G T 985446 985446 + Variant 263191 RCV000250684 SCV000317061 249341 AGRN NM_198576.3:c.4879+29G>T NM_198576.3:c.4879+29G>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 985449 G A 985449 985449 + Variant 263192 RCV000242423 SCV000317062 249342 AGRN NM_198576.3:c.4879+32G>A NM_198576.3:c.4879+32G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 985797 A G 985797 985797 + Variant 263193 RCV000247197 SCV000519188;SCV000317063 249343 AGRN NM_198576.3:c.4977-10A>G NM_198576.3:c.4977-10A>G:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Jun 21, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-06-21 2 0 -1 985826 G A 985826 985826 + Variant 128312 RCV000116274 SCV000150192;SCV000317064;SCV000519308 133761 AGRN NM_198576.3:c.4996G>A NP_940978.2:p.Val1666Ile NM_198576.3:c.4996G>A:missense variant Benign/Likely benign likely benign;benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter Jul 15, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-07-15 2 0 +1 985626 C T 985626 985626 + Variant 474140 RCV000538720 SCV000653951 447087 AGRN NM_198576.3:c.4893C>T NP_940978.2:p.Asp1631= NM_198576.3:c.4893C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 17, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-17 1 0 +1 985700 G A 985700 985700 + Variant 451650 RCV000520546 SCV000620373 442574 AGRN NM_198576.3:c.4967G>A NP_940978.2:p.Arg1656Gln NM_198576.3:c.4967G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 24, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-24 1 0 +1 985797 A G 985797 985797 + Variant 263193 RCV000247197;RCV000530930 SCV000519188;SCV000317063;SCV000653953 249343 AGRN NM_198576.3:c.4977-10A>G NM_198576.3:c.4977-10A>G:intron variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 28, 2017 PreventionGenetics;GeneDx;Invitae PreventionGenetics;GeneDx;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-06-21;2017-07-28 2 0 +1 985826 G A 985826 985826 + Variant 128312 RCV000116274;RCV000543394 SCV000150192;SCV000317064;SCV000519308;SCV000653954 133761 AGRN NM_198576.3:c.4996G>A NP_940978.2:p.Val1666Ile NM_198576.3:c.4996G>A:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 09, 2017 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-07-15;2017-08-09 2 0 1 985853 G A 985853 985853 + Variant 243039 RCV000235025 SCV000292409 244113 AGRN NM_198576.3:c.5023G>A NP_940978.2:p.Gly1675Ser NM_198576.3:c.5023G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 0 0 -1 985855 C T 985855 985855 + Variant 263194 RCV000242085 SCV000532854;SCV000317065 249344 AGRN NM_198576.3:c.5025C>T NP_940978.2:p.Gly1675= NM_198576.3:c.5025C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Nov 11, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-11-11 2 0 -1 985900 C T 985900 985900 + Variant 128313 RCV000116275 SCV000317066;SCV000150193;SCV000531981 133762 AGRN NM_198576.3:c.5070C>T NP_940978.2:p.Phe1690= NM_198576.3:c.5070C>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Oct 26, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-10-26 2 0 +1 985855 C T 985855 985855 + Variant 263194 RCV000242085;RCV000560640 SCV000532854;SCV000317065;SCV000653955 249344 AGRN NM_198576.3:c.5025C>T NP_940978.2:p.Gly1675= NM_198576.3:c.5025C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 14, 2017 PreventionGenetics;GeneDx;Invitae PreventionGenetics;GeneDx;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-11-11;2017-07-14 2 0 +1 985870 C T 985870 985870 + Variant 474142 RCV000532119 SCV000653956 447099 AGRN NM_198576.3:c.5040C>T NP_940978.2:p.Asn1680= NM_198576.3:c.5040C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 18, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-18 1 0 +1 985900 C T 985900 985900 + Variant 128313 RCV000116275;RCV000544877 SCV000317066;SCV000150193;SCV000531981;SCV000653957 133762 AGRN NM_198576.3:c.5070C>T NP_940978.2:p.Phe1690= NM_198576.3:c.5070C>T:synonymous variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 26, 2017 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 18414213;25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2013-08-15;0000-00-00;2016-10-26;2017-07-26 2 0 +1 985923 G A 985923 985923 + Variant 474143 RCV000557276 SCV000653958 447011 AGRN NM_198576.3:c.5093G>A NP_940978.2:p.Arg1698His NM_198576.3:c.5093G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 12, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-12 1 0 1 985955 G C 985955 985955 + Variant 18241 RCV000019902;RCV000235029 SCV000040200;SCV000292410 33280 AGRN NM_198576.3:c.5125G>C NP_940978.2:p.Gly1709Arg NM_198576.3:c.5125G>C:missense variant Pathogenic pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 OMIM;GeneReviews OMIM;GeneReviews Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8;Congenital myasthenic syndrome 19631309;20301347 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590;MedGen:C0751882;OMIM:PS601462 2009-08-01;2016-07-14 0 0 1 986143 G T 986143 986143 + Variant 126555 RCV000114427;RCV000235038 SCV000148369;SCV000292411 132068 AGRN NM_198576.3:c.5179G>T NP_940978.2:p.Val1727Phe NM_198576.3:c.5179G>T:missense variant Pathogenic pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 OMIM;GeneReviews OMIM;GeneReviews Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8;Congenital myasthenic syndrome 20301347;22205389 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590;MedGen:C0751882;OMIM:PS601462 2012-07-01;2016-07-14 0 0 -1 986165 G A 986165 986165 + Variant 263195 RCV000251658 SCV000317067;SCV000532616 249345 AGRN NM_198576.3:c.5201G>A NP_940978.2:p.Arg1734His NM_198576.3:c.5201G>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Oct 13, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-10-13 2 0 +1 986165 G A 986165 986165 + Variant 263195 RCV000251658;RCV000538163 SCV000317067;SCV000532616;SCV000653959 249345 AGRN NM_198576.3:c.5201G>A NP_940978.2:p.Arg1734His NM_198576.3:c.5201G>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 10, 2017 PreventionGenetics;GeneDx;Invitae PreventionGenetics;GeneDx;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-10;2017-08-04 2 0 +1 986187 C T 986187 986187 + Variant 474144 RCV000550632 SCV000653960 447103 AGRN NM_198576.3:c.5223C>T NP_940978.2:p.Gly1741= NM_198576.3:c.5223C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Aug 11, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 1 0 +1 986190 C T 986190 986190 + Variant 474145 RCV000557635 SCV000653961 447012 AGRN NM_198576.3:c.5226C>T NP_940978.2:p.Asp1742= NM_198576.3:c.5226C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 21, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-02-21 1 0 +1 986628 C T 986628 986628 + Variant 474146 RCV000533690 SCV000653962 447109 AGRN NM_198576.3:c.5254-5C>T NM_198576.3:c.5254-5C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 23, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-23 1 0 +1 986637 C T 986637 986637 + Variant 474147 RCV000550981 SCV000653963 447020 AGRN NM_198576.3:c.5258C>T NP_940978.2:p.Pro1753Leu NM_198576.3:c.5258C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 24, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-24 1 0 +1 986687 G A 986687 986687 + Variant 474148 RCV000526934 SCV000653964 447056 AGRN NM_198576.3:c.5308G>A NP_940978.2:p.Asp1770Asn NM_198576.3:c.5308G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 25, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-01-25 1 0 +1 986706 G A 986706 986706 + Variant 474149 RCV000539692 SCV000653965 447059 AGRN NM_198576.3:c.5327G>A NP_940978.2:p.Arg1776His NM_198576.3:c.5327G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 15, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-15 1 0 +1 986711 G A 986711 986711 + Variant 474150 RCV000547602 SCV000653966 447111 AGRN NM_198576.3:c.5332G>A NP_940978.2:p.Ala1778Thr NM_198576.3:c.5332G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 14, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-14 1 0 1 986716 C T 986716 986716 + Variant 263196 RCV000246601 SCV000317069 249346 AGRN NM_198576.3:c.5337C>T NP_940978.2:p.Ala1779= NM_198576.3:c.5337C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 986731 C T 986731 986731 + Variant 263197 RCV000252836 SCV000317070 249347 AGRN NM_198576.3:c.5352C>T NP_940978.2:p.Phe1784= NM_198576.3:c.5352C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 986732 G A 986732 986732 + Variant 128314 RCV000116276;RCV000244639 SCV000150194;SCV000528652;SCV000317071 133763 AGRN NM_198576.3:c.5353G>A NP_940978.2:p.Asp1785Asn NM_198576.3:c.5353G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;benign;likely benign 0 0 1 1 1 criteria provided, conflicting interpretations criteria provided, single submitter Jan 10, 2017 Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not provided;not specified;NOT SPECIFIED 18414213;25741868 germline MedGen:CN221809;MedGen:CN169374 2013-08-23;0000-00-00;2017-01-10 1 1 +1 986731 C T 986731 986731 + Variant 263197 RCV000252836;RCV000528442 SCV000317070;SCV000653967 249347 AGRN NM_198576.3:c.5352C>T NP_940978.2:p.Phe1784= NM_198576.3:c.5352C>T:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 30, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-05-30 2 0 +1 986732 G A 986732 986732 + Variant 128314 RCV000116276;RCV000244639;RCV000540887 SCV000150194;SCV000528652;SCV000317071;SCV000653968 133763 AGRN NM_198576.3:c.5353G>A NP_940978.2:p.Asp1785Asn NM_198576.3:c.5353G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;benign;likely benign 0 0 1 1 2 criteria provided, conflicting interpretations criteria provided, single submitter Jul 21, 2017 Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx;Invitae not provided;not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 18414213;25741868;20301347;28492532 germline MedGen:CN517202;MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2013-08-23;0000-00-00;2017-01-10;2017-07-21 1 1 1 986737 T C 986737 986737 + Variant 128315 RCV000116277 SCV000150195;SCV000317072;SCV000526743 133764 AGRN NM_198576.3:c.5358T>C NP_940978.2:p.Gly1786= NM_198576.3:c.5358T>C:synonymous variant Benign/Likely benign likely benign;benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter Sep 20, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-09-20 2 0 1 986760 G A 986760 986760 + Variant 263198 RCV000254171 SCV000532617;SCV000317073 249348 AGRN NM_198576.3:c.5370+11G>A NM_198576.3:c.5370+11G>A:intron variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Oct 13, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-10-13 2 0 1 986849 G A 986849 986849 + Variant 424015 RCV000485746 SCV000573787 404872 AGRN NM_198576.3:c.5387G>A NP_940978.2:p.Arg1796His NM_198576.3:c.5387G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 07, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-07 1 0 +1 986884 G A 986884 986884 + Variant 474151 RCV000552514 SCV000653969 447021 AGRN NM_198576.3:c.5422G>A NP_940978.2:p.Val1808Met NM_198576.3:c.5422G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 26, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-26 1 0 +1 986978 A G 986978 986978 + Variant 474152 RCV000533071 SCV000653970 447061 AGRN NM_198576.3:c.5516A>G NP_940978.2:p.Tyr1839Cys NM_198576.3:c.5516A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 25, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-25 1 0 +1 987012 G A 987012 987012 + Variant 474153 RCV000541245 SCV000653971 447024 AGRN NM_198576.3:c.5550G>A NP_940978.2:p.Pro1850= NM_198576.3:c.5550G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Apr 25, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-25 1 0 +1 987019 G A 987019 987019 + Variant 474154 RCV000553749 SCV000653972 447063 AGRN NM_198576.3:c.5557G>A NP_940978.2:p.Glu1853Lys NM_198576.3:c.5557G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 29, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-29 1 0 1 987116 G A 987116 987116 + Variant 397549 RCV000449559 SCV000537756 384432 AGRN NM_198576.3:c.5572G>A NP_940978.2:p.Glu1858Lys NM_198576.3:c.5572G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 17, 2016 Genome Clinic of Geneva,University Hospital of Geneva Genome Clinic of Geneva,University Hospital of Geneva Myasthenic syndrome, congenital, 8 20301347;25741868 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-03-17 1 0 -1 987142 C T 987142 987142 + Variant 128316 RCV000116278 SCV000317074;SCV000150196 133765 AGRN NM_198576.3:c.5598C>T NP_940978.2:p.Thr1866= NM_198576.3:c.5598C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 +1 987142 C T 987142 987142 + Variant 128316 RCV000116278;RCV000530029 SCV000317074;SCV000612303;SCV000150196;SCV000653973 133765 AGRN NM_198576.3:c.5598C>T NP_940978.2:p.Thr1866= NM_198576.3:c.5598C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jul 26, 2017 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;26467025;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-11-07;2017-07-26 2 0 1 987155 G A 987155 987155 + Variant 243040 RCV000235024 SCV000292412 244114 AGRN NM_198576.3:c.5611G>A NP_940978.2:p.Gly1871Arg NM_198576.3:c.5611G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 0 0 1 987159 G A 987159 987159 + Variant 388957 RCV000427038 SCV000531360 364297 AGRN NM_198576.3:c.5615G>A NP_940978.2:p.Arg1872Gln NM_198576.3:c.5615G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 07, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-07 1 0 1 987187 G A 987187 987187 + Variant 390523 RCV000433372 SCV000533376 364332 AGRN NM_198576.3:c.5643G>A NP_940978.2:p.Val1881= NM_198576.3:c.5643G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 10, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-10 1 0 1 987191 G A 987191 987191 + Variant 263199 RCV000249073 SCV000317075 249349 AGRN NM_198576.3:c.5647G>A NP_940978.2:p.Glu1883Lys NM_198576.3:c.5647G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 987200 C T 987200 987200 + Variant 128317 RCV000116279 SCV000317076;SCV000519175;SCV000150197 133766 AGRN NM_198576.3:c.5651+5C>T NM_198576.3:c.5651+5C>T:intron variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 2 0 -1 989207 G C 989207 989207 + Variant 128318 RCV000116280 SCV000150198;SCV000317077 133767 AGRN NM_198576.3:c.5726G>C NP_940978.2:p.Ser1909Thr NM_198576.3:c.5726G>C:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 +1 989148 G A 989148 989148 + Variant 474155 RCV000547044 SCV000653974 446974 AGRN NM_198576.3:c.5667G>A NP_940978.2:p.Gln1889= NM_198576.3:c.5667G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 22, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 1 0 +1 989206 A C 989206 989206 + Variant 474156 RCV000559740 SCV000653975 447113 AGRN NM_198576.3:c.5725A>C NP_940978.2:p.Ser1909Arg NM_198576.3:c.5725A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 01, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-01 1 0 +1 989207 G C 989207 989207 + Variant 128318 RCV000116280;RCV000531259 SCV000150198;SCV000317077;SCV000653976 133767 AGRN NM_198576.3:c.5726G>C NP_940978.2:p.Ser1909Thr NM_198576.3:c.5726G>C:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 07, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-07 2 0 +1 989216 C T 989216 989216 + Variant 474157 RCV000542856 SCV000653977 447066 AGRN NM_198576.3:c.5735C>T NP_940978.2:p.Ala1912Val NM_198576.3:c.5735C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 27, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-27 1 0 +1 989219 C T 989219 989219 + Variant 474158 RCV000559811 SCV000653978 447075 AGRN NM_198576.3:c.5738C>T NP_940978.2:p.Thr1913Met NM_198576.3:c.5738C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 05, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 1 0 1 989224 C T 989224 989224 + Variant 422180 RCV000485272 SCV000571586 404873 AGRN NM_198576.3:c.5743C>T NP_940978.2:p.Arg1915Trp NM_198576.3:c.5743C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 21, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-21 1 0 +1 989295 C T 989295 989295 + Variant 474160 RCV000548862 SCV000653980 447076 AGRN NM_198576.3:c.5814C>T NP_940978.2:p.Pro1938= NM_198576.3:c.5814C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Nov 14, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-14 1 0 1 989313 C T 989313 989313 + Variant 434111 RCV000499981 SCV000593074 427609 AGRN NM_198576.3:c.5832C>T NP_940978.2:p.Thr1944= NM_198576.3:c.5832C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 11, 2016 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-04-11 1 0 1 989811 C A 989811 989811 + Variant 263200 RCV000250424 SCV000317078 249351 AGRN NM_198576.3:c.5877-17C>A NM_198576.3:c.5877-17C>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 990213 C T 990213 990213 + Variant 430302 RCV000492841 SCV000583076 421152 AGRN NM_198576.3:c.5990C>T NP_940978.2:p.Pro1997Leu NM_198576.3:c.5990C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 22, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-22 1 0 +1 989847 C T 989847 989847 + Variant 474161 RCV000556702 SCV000653981 447027 AGRN NM_198576.3:c.5896C>T NP_940978.2:p.Leu1966= NM_198576.3:c.5896C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 14, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-14 1 0 +1 989899 C T 989899 989899 + Variant 474162 RCV000537577 SCV000653982 447080 AGRN NM_198576.3:c.5948C>T NP_940978.2:p.Thr1983Met NM_198576.3:c.5948C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 01, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-01 1 0 +1 990213 C T 990213 990213 + Variant 430302 RCV000492841;RCV000525192 SCV000583076;SCV000653984 421152 AGRN NM_198576.3:c.5990C>T NP_940978.2:p.Pro1997Leu NM_198576.3:c.5990C>T:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 22, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-22;2017-03-02 2 0 +1 990218 C A 990218 990218 + Variant 474164 RCV000542184 SCV000653985 447030 AGRN NM_198576.3:c.5995C>A NP_940978.2:p.Leu1999Met NM_198576.3:c.5995C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 24, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-24 1 0 +1 990224 G A 990224 990224 + Variant 474166 RCV000526397 SCV000653987 447082 AGRN NM_198576.3:c.6001G>A NP_940978.2:p.Val2001Met NM_198576.3:c.6001G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 29, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-29 1 0 1 990242 A G 990242 990242 + Variant 385926 RCV000425631 SCV000527367 364344 AGRN NM_198576.3:c.6019A>G NP_940978.2:p.Lys2007Glu NM_198576.3:c.6019A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 02, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-02 1 0 1 990277 G A 990277 990277 + Variant 263201 RCV000253570 SCV000317079 249352 AGRN NM_198576.3:c.6054G>A NP_940978.2:p.Arg2018= NM_198576.3:c.6054G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 990280 C T 990280 990280 + Variant 128319 RCV000116281 SCV000150199;SCV000519176;SCV000317080 133768 AGRN NM_198576.3:c.6057C>T NP_940978.2:p.Asp2019= NM_198576.3:c.6057C>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 2 0 +1 990291 G T 990291 990291 + Variant 474167 RCV000539106 SCV000653988 447085 AGRN NM_198576.3:c.6068G>T NP_940978.2:p.Gly2023Val NM_198576.3:c.6068G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 05, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 1 0 +1 990342 G A 990342 990342 + Variant 474168 RCV000556109 SCV000653989 446976 AGRN NM_198576.3:c.6119G>A NP_940978.2:p.Arg2040Gln NM_198576.3:c.6119G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 24, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-24 1 0 1 990380 C T 990380 990380 + Variant 263157 RCV000252490 SCV000317004;SCV000519189 249353 AGRN NM_198576.3:c.*19C>T NM_198576.3:c.*19C>T:3 prime UTR variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Feb 01, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-02-01 2 0 +1 1146965 G A 1146965 1146965 - Variant 474798 RCV000537491 SCV000654816 447197 TNFRSF4 NM_003327.3:c.804C>T NP_003318.1:p.Ala268= NM_003327.3:c.804C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 29, 2017 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-06-29 1 0 +1 1147337 C T 1147337 1147337 - Variant 474797 RCV000556703 SCV000654815 447083 TNFRSF4 NM_003327.3:c.619G>A NP_003318.1:p.Val207Met NM_003327.3:c.619G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 25, 2017 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-07-25 1 0 1 1147422 C T 1147422 1147422 - Variant 403556 RCV000455786 SCV000540562 389315 TNFRSF4 NM_003327.3:c.534G>A NP_003318.1:p.Glu178= NM_003327.3:c.534G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Mar 28, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified 24033266 germline MedGen:CN169374 2016-03-28 1 0 +1 1148445 G A 1148445 1148445 - Variant 474796 RCV000544166 SCV000654814 447259 TNFRSF4 NM_003327.3:c.297C>T NP_003318.1:p.Cys99= NM_003327.3:c.297C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 10, 2017 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-07-10 1 0 +1 1148449 A G 1148449 1148449 - Variant 474795 RCV000531541 SCV000654813 447260 TNFRSF4 NM_003327.3:c.293T>C NP_003318.1:p.Leu98Pro NM_003327.3:c.293T>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 21, 2017 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-06-21 1 0 1 1149118 G A 1149118 1149118 - Variant 96692 RCV000082860 SCV000114912 102585 TNFRSF4 NM_003327.3:c.193C>T NP_003318.1:p.Arg65Cys NM_003327.3:c.193C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 26, 2013 OMIM OMIM Immunodeficiency 16;IMMUNODEFICIENCY 16 (1 patient) 23897980 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2013-08-26 0 0 +1 1149480 G A 1149480 1149480 - Variant 474794 RCV000559880 SCV000654812 447262 TNFRSF4 NM_003327.3:c.28C>T NP_003318.1:p.Arg10Cys NM_003327.3:c.28C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 25, 2017 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-07-25 1 0 1 1167636 G A 1167636 1167636 + Variant 390144 RCV000433352 SCV000532898 364446 B3GALT6 NM_080605.3:c.-23G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 20, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-20 1 0 1 1167659 A G 1167659 1167659 + Variant 60484 RCV000054390 SCV000082867 75079 B3GALT6 NM_080605.3:c.1A>G NP_542172.2:p.Met1Val NM_080605.3:c.1A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 0 0 -1 1167674 C T 1167674 1167674 + Variant 60493 RCV000054399 SCV000082876 75088 B3GALT6 NM_080605.3:c.16C>T NP_542172.2:p.Arg6Trp NM_080605.3:c.16C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 0 0 +1 1167674 C T 1167674 1167674 + Variant 60493 RCV000054399 SCV000082876 75088 B3GALT6 NM_080605.3:c.16C>T NP_542172.2:p.Arg6Trp NM_080605.3:c.16C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 0 0 1 1167675 G A 1167675 1167675 + Variant 429685 RCV000493202 SCV000582314 421163 B3GALT6 NM_080605.3:c.17G>A NP_542172.2:p.Arg6Gln NM_080605.3:c.17G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 08, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-08 1 0 1 1167680 T G 1167680 1167680 + Variant 193479 RCV000173551 SCV000224673 190643 B3GALT6 NM_080605.3:c.22T>G NP_542172.2:p.Trp8Gly NM_080605.3:c.22T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 05, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-02-05 1 0 1 1167689 C T 1167689 1167689 + Variant 386485 RCV000444888 SCV000528170 364354 B3GALT6 NM_080605.3:c.31C>T NP_542172.2:p.Arg11Trp NM_080605.3:c.31C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 17, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-17 1 0 +1 1167693 C G 1167693 1167693 + Variant 450501 RCV000520086 SCV000619096 442611 B3GALT6 NM_080605.3:c.35C>G NP_542172.2:p.Ala12Gly NM_080605.3:c.35C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 07, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-07-07 1 0 1 1167704 C T 1167704 1167704 + Variant 391547 RCV000441345 SCV000534639 364403 B3GALT6 NM_080605.3:c.46C>T NP_542172.2:p.Leu16= NM_080605.3:c.46C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 09, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-09 1 0 -1 1167765 C T 1167765 1167765 + Variant 392324 RCV000431606 SCV000535577 364451 B3GALT6 NM_080605.3:c.107C>T NP_542172.2:p.Pro36Leu NM_080605.3:c.107C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 04, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-04 1 0 +1 1167765 C T 1167765 1167765 + Variant 392324 RCV000431606 SCV000535577 364451 B3GALT6 NM_080605.3:c.107C>T NP_542172.2:p.Pro36Leu NM_080605.3:c.107C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 27, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-07-27 1 0 1 1167796 C T 1167796 1167796 + Variant 193478 RCV000173550 SCV000224672;SCV000525607 190642 B3GALT6 NM_080605.3:c.138C>T NP_542172.2:p.Ser46= NM_080605.3:c.138C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 29, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2015-02-10;2016-09-29 2 0 1 1167838 A G 1167838 1167838 + Variant 288791 RCV000380808 SCV000343009 273028 B3GALT6 NM_080605.3:c.180A>G NP_542172.2:p.Ala60= NM_080605.3:c.180A>G:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 21, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-06-21 1 0 1 1167851 A G 1167851 1167851 + Variant 60488 RCV000054394 SCV000082871 75083 B3GALT6 NM_080605.3:c.193A>G NP_542172.2:p.Ser65Gly NM_080605.3:c.193A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 0 0 1 1167858 C T 1167858 1167858 + Variant 60489 RCV000054395 SCV000082872 75084 B3GALT6 NM_080605.3:c.200C>T NP_542172.2:p.Pro67Leu NM_080605.3:c.200C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 0 0 -1 1167996 A G 1167996 1167996 + Variant 424885 RCV000488044 SCV000574737 413219 B3GALT6 NM_080605.3:c.338A>G NP_542172.2:p.Gln113Arg NM_080605.3:c.338A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 31, 2017 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-03-31 1 0 -1 1168010 GA G 1168011 1168011 + Variant 60490 RCV000054396 SCV000082873 75085 B3GALT6 NM_080605.3:c.353delA NP_542172.2:p.Asp118Alafs NM_080605.3:c.353delA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 0 0 +1 1167897 G A 1167897 1167897 + Variant 452846 RCV000520848 SCV000621690 442612 B3GALT6 NM_080605.3:c.239G>A NP_542172.2:p.Trp80Ter NM_080605.3:c.239G>A:nonsense Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Oct 16, 2017 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2017-10-16 1 0 +1 1167996 A G 1167996 1167996 + Variant 424885 RCV000488044 SCV000574737 413219 B3GALT6 NM_080605.3:c.338A>G NP_542172.2:p.Gln113Arg NM_080605.3:c.338A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 31, 2017 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-03-31 1 0 +1 1168010 GA G 1168011 1168011 + Variant 60490 RCV000054396 SCV000082873 75085 B3GALT6 NM_080605.3:c.353delA NP_542172.2:p.Asp118Alafs NM_080605.3:c.353delA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 0 0 1 1168012 C CCTG 1168023 1168025 + Variant 421834 RCV000485868 SCV000571148 404899 B3GALT6 NM_080605.3:c.365_367dupTGC NP_542172.2:p.Leu122_Pro123insLeu Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 04, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-08-04 1 0 1 1168025 C T 1168025 1168025 + Variant 387709 RCV000432423 SCV000529832 364408 B3GALT6 NM_080605.3:c.367C>T NP_542172.2:p.Pro123Ser NM_080605.3:c.367C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 05, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-05 1 0 -1 1168064 GTGCTGGCCA G 1168073 1168081 + Variant 60494 RCV000054400 SCV000082877 75089 B3GALT6 NM_080605.3:c.415_423delATGCTGGCC NP_542172.2:p.Met139_Ala141del NM_080605.3:c.415_423delATGCTGGCC:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 0 0 +1 1168064 GTGCTGGCCA G 1168073 1168081 + Variant 60494 RCV000054400 SCV000082877 75089 B3GALT6 NM_080605.3:c.415_423delATGCTGGCC NP_542172.2:p.Met139_Ala141del NM_080605.3:c.415_423delATGCTGGCC:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 0 0 1 1168115 C A 1168115 1168115 + Variant 390636 RCV000431776 SCV000533522 364355 B3GALT6 NM_080605.3:c.457C>A NP_542172.2:p.Leu153Ile NM_080605.3:c.457C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 09, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-09 1 0 1 1168124 G A 1168124 1168124 + Variant 60486 RCV000054392 SCV000082869 75081 B3GALT6 NM_080605.3:c.466G>A NP_542172.2:p.Asp156Asn NM_080605.3:c.466G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 0 0 1 1168173 C T 1168173 1168173 + Variant 373234 RCV000413594 SCV000491813 359211 B3GALT6 NM_080605.3:c.515C>T NP_542172.2:p.Ala172Val NM_080605.3:c.515C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 25, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-25 1 0 1 1168180 G C 1168180 1168180 + Variant 281204 RCV000287240 SCV000524226;SCV000331726 265441 B3GALT6 NM_080605.3:c.522G>C NP_542172.2:p.Glu174Asp NM_080605.3:c.522G>C:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Oct 18, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2016-03-04;2016-10-18 2 0 -1 1168239 CG C 1168246 1168246 + Variant 60492 RCV000054398 SCV000082875 75087 B3GALT6 NM_080605.3:c.588delG NP_542172.2:p.Arg197Alafs NM_080605.3:c.588delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 0 0 -1 1168241 G C 1168241 1168241 + Variant 390607 RCV000425752;RCV000513657 SCV000533484;SCV000608448 364455 B3GALT6 NM_080605.3:c.583G>C NP_542172.2:p.Gly195Arg NM_080605.3:c.583G>C:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 30, 2017 GeneDx;Praxis fuer Humangenetik Tuebingen, GeneDx;Praxis fuer Humangenetik Tuebingen, not specified;not provided germline MedGen:CN169374;MedGen:CN221809;MedGen:CN517202 2016-11-03;2017-04-30 2 0 +1 1168239 CG C 1168246 1168246 + Variant 60492 RCV000054398 SCV000082875 75087 B3GALT6 NM_080605.3:c.588delG NP_542172.2:p.Arg197Alafs NM_080605.3:c.588delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 0 0 +1 1168241 G C 1168241 1168241 + Variant 390607 RCV000425752;RCV000513657 SCV000533484;SCV000608448 364455 B3GALT6 NM_080605.3:c.583G>C NP_542172.2:p.Gly195Arg NM_080605.3:c.583G>C:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 30, 2017 GeneDx;Praxis fuer Humangenetik Tuebingen GeneDx;Praxis fuer Humangenetik Tuebingen not specified;not provided germline MedGen:CN169374;MedGen:CN221809;MedGen:CN517202 2016-11-03;2017-04-30 2 0 1 1168245 G T 1168245 1168245 + Variant 281706 RCV000408441 SCV000332633;SCV000524227 265943 B3GALT6 NM_080605.3:c.587G>T NP_542172.2:p.Gly196Val NM_080605.3:c.587G>T:missense variant Uncertain significance uncertain significance;uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Feb 29, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2015-06-25;2016-02-29 2 0 1 1168262 G A 1168262 1168262 + Variant 423210 RCV000478140 SCV000572872 404900 B3GALT6 NM_080605.3:c.604G>A NP_542172.2:p.Ala202Thr NM_080605.3:c.604G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 30, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-30 1 0 1 1168277 G C 1168277 1168277 + Variant 60495 RCV000054401 SCV000082878 75090 B3GALT6 NM_080605.3:c.619G>C NP_542172.2:p.Asp207His NM_080605.3:c.619G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES 23664118 germline MedGen:C4017378 2013-06-06 0 0 @@ -161,12 +250,15 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 1168352 C T 1168352 1168352 + Variant 60485 RCV000054391 SCV000082868 75080 B3GALT6 NM_080605.3:c.694C>T NP_542172.2:p.Arg232Cys NM_080605.3:c.694C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 0 0 1 1168357 C T 1168357 1168357 + Variant 290128 RCV000295132 SCV000344630 274365 B3GALT6 NM_080605.3:c.699C>T NP_542172.2:p.Asp233= NM_080605.3:c.699C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 05, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-05 1 0 1 1168411 G A 1168411 1168411 + Variant 283369 RCV000266846 SCV000335404 267606 B3GALT6 NM_080605.3:c.753G>A NP_542172.2:p.Pro251= NM_080605.3:c.753G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 04, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-10-04 1 0 +1 1168476 A G 1168476 1168476 + Variant 453100 RCV000522158 SCV000621960 442613 B3GALT6 NM_080605.3:c.818A>G NP_542172.2:p.Asn273Ser NM_080605.3:c.818A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 31, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-31 1 0 1 1168492 G A 1168492 1168492 + Variant 283589 RCV000389593 SCV000335787 267826 B3GALT6 NM_080605.3:c.834G>A NP_542172.2:p.Thr278= NM_080605.3:c.834G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 08, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-10-08 1 0 1 1168511 G A 1168511 1168511 + Variant 283597 RCV000360273 SCV000335795 267834 B3GALT6 NM_080605.3:c.853G>A NP_542172.2:p.Asp285Asn NM_080605.3:c.853G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 08, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-10-08 1 0 1 1168557 G C 1168557 1168557 + Variant 60487 RCV000054393 SCV000082870 75082 B3GALT6 NM_080605.3:c.899G>C NP_542172.2:p.Cys300Ser NM_080605.3:c.899G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 0 0 1 1168567 G A 1168567 1168567 + Variant 193477 RCV000173549 SCV000224671 190641 B3GALT6 NM_080605.3:c.909G>A NP_542172.2:p.Glu303= NM_080605.3:c.909G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 10, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-02-10 1 0 -1 1168583 T A 1168583 1168583 + Variant 60491 RCV000054397 SCV000082874 75086 B3GALT6 NM_080605.3:c.925T>A NP_542172.2:p.Ser309Thr NM_080605.3:c.925T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 0 0 +1 1168583 T A 1168583 1168583 + Variant 60491 RCV000054397 SCV000082874 75086 B3GALT6 NM_080605.3:c.925T>A NP_542172.2:p.Ser309Thr NM_080605.3:c.925T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 0 0 1 1271772 C T 1271772 1271772 - Variant 391198 RCV000437568 SCV000534215 364458 DVL1 NM_004421.2:c.1763G>A NP_004412.2:p.Gly588Glu NM_004421.2:c.1763G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 19, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-19 1 0 +1 1271833 G A 1271833 1271833 - Variant 445443 RCV000514751 SCV000609816 438715 DVL1 NM_004421.2:c.1702C>T NP_004412.2:p.Arg568Trp NM_004421.2:c.1702C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 28, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-08-28 1 0 +1 1273372 TC T 1273373 1273373 - Variant 488046 RCV000577923 SCV000583564 481061 DVL1 NM_004421.2:c.1623delG NP_004412.2:p.Ser542Valfs NM_004421.2:c.1623delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2017 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2 25577943;29276006 unknown GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2017-06-01 1 0 1 1273380 CT C 1273381 1273381 - Variant 208047 RCV000193819 SCV000256690;SCV000243851 204306 DVL1 NM_004421.2:c.1615delA NP_004412.2:p.Ser539Alafs NM_004421.2:c.1615delA:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Jul 30, 2015 GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-07-30;2015-03-26 1 0 1 1273413 TAGGCAGG C 1273413 1273420 - Variant 208050 RCV000194315 SCV000243854;SCV000222664 204307 DVL1 NM_004421.2:c.1576_1583delCCTGCCTAinsG NP_004412.2:p.Pro526Alafs NM_004421.2:c.1576_1583delCCTGCCTAinsG:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided;no assertion criteria provided Jul 30, 2015 GeneReviews;OMIM OMIM;GeneReviews Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 22431878;25577943;25817014 germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30 0 0 1 1273425 AA G 1273425 1273426 - Variant 208043 RCV000192810 SCV000243847;SCV000256686;SCV000222660 204308 DVL1 NM_004421.2:c.1570_1571delTTinsC NP_004412.2:p.Phe524Profs NM_004421.2:c.1570_1571delTTinsC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter Jul 30, 2015 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 1 0 @@ -174,202 +266,258 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 1273466 AC A 1273467 1273467 - Variant 208048 RCV000195217 SCV000256691;SCV000243852 204310 DVL1 NM_004421.2:c.1529delG NP_004412.2:p.Gly510Valfs NM_004421.2:c.1529delG:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Jul 30, 2015 GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-07-30;2015-03-26 1 0 1 1273472 AG A 1273474 1273474 - Variant 219223 RCV000208706 SCV000257460 217239 DVL1 NM_004421.2:c.1522delC NP_004412.2:p.Pro508Leufs NM_004421.2:c.1522delC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Dec 01, 2015 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2 23806086;24088041;25577943;26924530 de novo GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-12-01 1 0 1 1273476 CA C 1273477 1273477 - Variant 208045 RCV000195250 SCV000222663;SCV000243849;SCV000256688 204311 DVL1 NM_004421.2:c.1519delT NP_004412.2:p.Trp507Glyfs NM_004421.2:c.1519delT:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter Jul 30, 2015 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25045061;25577943;25817014;25817016 germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 1 0 -1 1273478 GGGGGCAGCCGGGT G 1273479 1273491 - Variant 208044 RCV000193850 SCV000256687;SCV000222659;SCV000243848 204312 DVL1 NM_004421.2:c.1505_1517delACCCGGCTGCCCC NP_004412.2:p.His502Profs NM_004421.2:c.1505_1517delACCCGGCTGCCCC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter Jul 30, 2015 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 1 0 +1 1273478 GGGGGCAGCCGGGT G 1273479 1273491 - Variant 208044 RCV000193850 SCV000256687;SCV000222659;SCV000243848 204312 DVL1 NM_004421.2:c.1505_1517delACCCGGCTGCCCC NP_004412.2:p.His502Profs NM_004421.2:c.1505_1517delACCCGGCTGCCCC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter Jun 01, 2017 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 25577943;25817016;29276006 de novo;germline;unknown GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2017-06-01 1 0 1 1273487 CG C 1273488 1273488 - Variant 208046 RCV000192930 SCV000222661;SCV000243850;SCV000256689 204313 DVL1 NM_004421.2:c.1508delC NP_004412.2:p.Pro503Argfs NM_004421.2:c.1508delC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter Jul 30, 2015 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 10319206;23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 1 0 -1 1273909 G GGCATTGGC 1273910 1273910 - Variant 373812 RCV000413003 SCV000492436 359205 DVL1 NM_004421.2:c.1249_1256dupGCCAATGC NP_004412.2:p.Val420Profs NM_004421.2:c.1249_1256dupGCCAATGC:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Dec 08, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-12-08 1 0 +1 1273487 CGGGTGGGGCAGCG C 1273488 1273500 - Variant 488047 RCV000577891 SCV000583565 481063 DVL1 NM_004421.2:c.1496_1508delCGCTGCCCCACCC NP_004412.2:p.Pro499Argfs NM_004421.2:c.1496_1508delCGCTGCCCCACCC:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2017 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2 25577943;29276006 unknown GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2017-06-01 1 0 +1 1273790 T C 1273790 1273790 - Variant 445553 RCV000514391 SCV000610053 438825 DVL1 NM_004421.2:c.1291A>G NP_004412.2:p.Thr431Ala NM_004421.2:c.1291A>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 20, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-03-20 1 0 +1 1273909 G GGCATTGGC 1273910 1273910 - Variant 373812 RCV000413003 SCV000492436 359205 DVL1 NM_004421.2:c.1249_1256dupGCCAATGC NP_004412.2:p.Val420Profs NM_004421.2:c.1249_1256dupGCCAATGC:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Dec 08, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-12-08 1 0 1 1274768 G A 1274768 1274768 - Variant 391268 RCV000429612 SCV000534300 364462 DVL1 NM_004421.2:c.1106C>T NP_004412.2:p.Ala369Val NM_004421.2:c.1106C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 16, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-16 1 0 -1 1277039 CCA C 1277040 1277041 - Variant 376849 RCV000429733 SCV000510745 363727 DVL1 NM_004421.2:c.605+6_605+7delTG NM_004421.2:c.605+6_605+7delTG:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 18, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-01-18-06:00 1 0 +1 1277039 CCA C 1277040 1277041 - Variant 376849 RCV000429733 SCV000510745 363727 DVL1 NM_004421.2:c.605+6_605+7delTG NM_004421.2:c.605+6_605+7delTG:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 18, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-01-18 1 0 1 1289293 A T 1289293 1289293 - Variant 402162 RCV000454237 SCV000537939 389106 MXRA8 NM_032348.3:c.1238T>A NP_115724.1:p.Ile413Asn NM_032348.3:c.1238T>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter - Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Abnormality of brain morphology 26539891 inherited HP:HP:0012443;Human Phenotype Ontology:HP:0012443;MedGen:C4021085 0000-00-00 1 0 -1 1391201 G A 1391201 1391201 + Variant 423820 RCV000479669 SCV000573565 404901 ATAD3C NM_001039211.2:c.469G>A NP_001034300.2:p.Ala157Thr NM_001039211.2:c.469G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 28, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-28 1 0 1 1447806 C T 1447806 1447806 + Variant 225697 RCV000412620;RCV000488882 SCV000490327;SCV000267602 227512 ATAD3A NM_018188.4:c.158C>T NP_060658.3:p.Thr53Ile NM_001170536.1:c.-297C>T:2KB upstream variant;NM_018188.4:c.158C>T:missense variant Conflicting interpretations of pathogenicity pathogenic;uncertain significance 1 0 1 0 0 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Nov 29, 2016 OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Harel-Yoon syndrome;HAREL-YOON SYNDROME, AUTOSOMAL RECESSIVE;not specified;Congenital cataracts;Ataxia;Seizure 27640307 germline MedGen:C4310677;OMIM:617183;MedGen:CN169374 2016-11-29;2016-04-26 1 1 1 1451415 C G 1451415 1451415 + Variant 432628 RCV000498349 SCV000590377 425308 ATAD3A NM_018188.4:c.229C>G NP_060658.3:p.Leu77Val NM_018188.4:c.229C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 06, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-06 1 0 -1 1464679 C T 1464679 1464679 + Variant 225696 RCV000412539;RCV000488909 SCV000490326;SCV000494159;SCV000267601 227511 ATAD3A NM_018188.4:c.1726C>T NP_060658.3:p.Arg576Trp NM_018188.4:c.1726C>T:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 2 1 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Nov 29, 2016 OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Harel-Yoon syndrome;HAREL-YOON SYNDROME;not provided;Developmental delay;Peripheral neuropathy;Optic atrophy;Cardiomyopathy 27640307 de novo;unknown;germline MedGen:C4310677;OMIM:617183;MedGen:CN221809 2016-11-29;0000-00-00;2016-04-26 1 0 +1 1451437 C T 1451437 1451437 + Variant 452865 RCV000519405 SCV000621709 442620 ATAD3A NM_018188.4:c.251C>T NP_060658.3:p.Thr84Met NM_018188.4:c.251C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 17, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-17 1 0 +1 1455640 C T 1455640 1455640 + Variant 452740 RCV000523197 SCV000621571 442621 ATAD3A NM_018188.4:c.778C>T NP_060658.3:p.Arg260Cys NM_018188.4:c.778C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 23, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-23 1 0 +1 1455664 C T 1455664 1455664 + Variant 452211 RCV000518892 SCV000620999 442622 ATAD3A NM_018188.4:c.802C>T NP_060658.3:p.Gln268Ter NM_018188.4:c.802C>T:nonsense Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 18, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-09-18 1 0 +1 1455968 G C 1455968 1455968 + Variant 453143 RCV000522935 SCV000622009 442623 ATAD3A NM_018188.4:c.865G>C NP_060658.3:p.Val289Leu NM_018188.4:c.865G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 31, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-31 1 0 +1 1455997 G A 1455997 1455997 + Variant 452866 RCV000521220 SCV000621710 442624 ATAD3A NM_018188.4:c.894G>A NP_060658.3:p.Thr298= NM_018188.4:c.894G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 17, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-17 1 0 +1 1464679 C T 1464679 1464679 + Variant 225696 RCV000412539;RCV000488909 SCV000490326;SCV000494159;SCV000267601 227511 ATAD3A NM_018188.4:c.1726C>T NP_060658.3:p.Arg576Trp NM_018188.4:c.1726C>T:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 2 1 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Nov 29, 2016 OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Harel-Yoon syndrome;HAREL-YOON SYNDROME;not provided;Developmental delay;Peripheral neuropathy;Optic atrophy;Cardiomyopathy 27640307 de novo;unknown;germline MedGen:C4310677;OMIM:617183;MedGen:CN517202 2016-11-29;0000-00-00;2016-04-26 1 0 1 1470750 G A 1470750 1470750 - Variant 161196 RCV000148348 SCV000195812 171043 TMEM240 NM_001114748.1:c.511C>T NP_001108220.1:p.Arg171Trp NM_001114748.1:c.511C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 01, 2014 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 0 0 -1 1470752 G A 1470752 1470752 - Variant 161192 RCV000148344;RCV000322616 SCV000597502;SCV000195808;SCV000330042 171039 TMEM240 NM_001114748.1:c.509C>T NP_001108220.1:p.Pro170Leu NM_001114748.1:c.509C>T:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 2 1 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jun 08, 2017 OMIM;Genetic Services Laboratory, University of Chicago;GeneDx OMIM;Genetic Services Laboratory, University of Chicago;GeneDx Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21;not provided;Not Provided 11160961;20050888;20301317;25070513;25741868 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773;MedGen:CN221809 2014-10-01;2017-06-08;2015-11-26 2 0 +1 1470752 G A 1470752 1470752 - Variant 161192 RCV000148344;RCV000322616 SCV000597502;SCV000195808;SCV000330042 171039 TMEM240 NM_001114748.1:c.509C>T NP_001108220.1:p.Pro170Leu NM_001114748.1:c.509C>T:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 2 1 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jun 08, 2017 OMIM;Genetic Services Laboratory, University of Chicago;GeneDx OMIM;Genetic Services Laboratory, University of Chicago;GeneDx Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21;not provided;Not Provided 11160961;20050888;20301317;25070513;25741868 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773;MedGen:CN517202 2014-10-01;2017-06-08;2015-11-26 2 0 1 1470772 G C 1470772 1470772 - Variant 161193 RCV000148345 SCV000195809 171040 TMEM240 NM_001114748.1:c.489C>G NP_001108220.1:p.Tyr163Ter NM_001114748.1:c.489C>G:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 01, 2014 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 0 0 1 1470837 G A 1470837 1470837 - Variant 393221 RCV000424137 SCV000536598 364388 TMEM240 NM_001114748.1:c.424C>T NP_001108220.1:p.Arg142Trp NM_001114748.1:c.424C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 25, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-25 1 0 1 1470969 C T 1470969 1470969 - Variant 373233 RCV000413204 SCV000491812 359223 TMEM240 NM_001114748.1:c.373G>A NP_001108220.1:p.Asp125Asn NM_001114748.1:c.373G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 22, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-22 1 0 1 1470996 G A 1470996 1470996 - Variant 161194 RCV000148346 SCV000195810 171041 TMEM240 NM_001114748.1:c.346C>T NP_001108220.1:p.Arg116Cys NM_001114748.1:c.346C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 01, 2014 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 0 0 1 1470998 A G 1470998 1470998 - Variant 437011 RCV000503526 SCV000597503 427636 TMEM240 NM_001114748.1:c.344T>C NP_001108220.1:p.Val115Ala NM_001114748.1:c.344T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 17, 2015 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-12-17 1 0 1 1471103 G A 1471103 1471103 - Variant 161195 RCV000148347 SCV000195811 171042 TMEM240 NM_001114748.1:c.239C>T NP_001108220.1:p.Thr80Met NM_001114748.1:c.239C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 01, 2014 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 0 0 -1 1471146 C T 1471146 1471146 - Variant 372833 RCV000413958 SCV000491361 359235 TMEM240 NM_001114748.1:c.196G>A NP_001108220.1:p.Gly66Arg NM_001114748.1:c.196G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Jan 27, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-01-27 1 0 +1 1471146 C T 1471146 1471146 - Variant 372833 RCV000413958 SCV000491361 359235 TMEM240 NM_001114748.1:c.196G>A NP_001108220.1:p.Gly66Arg NM_001114748.1:c.196G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Jan 27, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-01-27 1 0 1 1550992 C A 1550992 1550992 + Variant 218832 RCV000202894 SCV000258233 215186 MIB2 NM_080875.2:c.153C>A NP_543151.2:p.Cys51Ter NM_001170689.1:c.-618C>A:2KB upstream variant;NM_080875.2:c.153C>A:nonsense;NR_033183.1:n.198C>A:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 11, 2015 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 2015-06-11 1 0 1 1637084 TTTTC T 1637085 1637088 - Variant 421783 RCV000480151 SCV000571086 404982 CDK11A NM_024011.3:c.1329_1332delGAAA NP_076916.2:p.Lys444Glnfs NM_024011.3:c.1329_1332delGAAA:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 25, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-25 1 0 1 1718817 C T 1718817 1718817 - Variant 224718 RCV000210260 SCV000266340 226495 GNB1 NM_002074.4:c.976G>A NP_002065.1:p.Ala326Thr NM_002074.4:c.976G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 10, 2016 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Intellectual disability;Global developmental delay;Generalized tonic-clonic seizures;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0001249;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0002069;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001306;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002069;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002407;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007252;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0010520;MedGen:C0036572;MedGen:C0494475;MedGen:C1843367;MedGen:C4020875;MedGen:CN001147 2016-02-10 0 0 -1 1720541 G A 1720541 1720541 - Variant 444148 RCV000512793 SCV000608449 437788 GNB1 NM_002074.4:c.867C>T NP_002065.1:p.Tyr289= NM_002074.4:c.867C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 31, 2017 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 1 0 -1 1735942 C T 1735942 1735942 - Variant 444149 RCV000513217 SCV000608450 437789 GNB1 NM_002074.4:c.346G>A NP_002065.1:p.Gly116Ser NM_002074.4:c.346G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 31, 2017 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 1 0 -1 1735987 T C 1735987 1735987 - Variant 224717 RCV000210283;RCV000225171;RCV000480671 SCV000266339;SCV000282065;SCV000571181 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 2 1 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Mar 17, 2017 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Expressive language delay;Seizures;Focal seizures with impairment of consciousness or awareness;Intellectual disability;Global developmental delay;Generalized tonic-clonic seizures;Developmental regression;Multifocal epileptiform discharges;EEG with generalized epileptiform discharges;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42;not provided;Not Provided 21956720;27108799 de novo;germline Genetic Alliance:Seizures/6489;HP:HP:0001249;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0002069;HP:HP:0002376;HP:HP:0002384;HP:HP:0002474;HP:HP:0010841;HP:HP:0011198;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001306;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002069;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002384;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002407;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002471;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002489;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006797;Human Phenotype Ontology:HP:0006828;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006854;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007037;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007242;Human Phenotype Ontology:HP:0007247;Human Phenotype Ontology:HP:0007252;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;MedGen:C0036572;MedGen:C0149958;MedGen:C0494475;MedGen:C1843367;MedGen:C1847610;MedGen:C1855009;MedGen:C4020875;MedGen:C4021219;MedGen:C4023476;MedGen:CN001147;MedGen:C4310774;OMIM:616973;MedGen:CN221809 2016-02-10;2016-08-08;2017-03-17 1 0 +1 1720541 G A 1720541 1720541 - Variant 444148 RCV000512793 SCV000608449 437788 GNB1 NM_002074.4:c.867C>T NP_002065.1:p.Tyr289= NM_002074.4:c.867C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 31, 2017 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 1 0 +1 1720578 G C 1720578 1720578 - Variant 452928 RCV000523284 SCV000621777 442673 GNB1 NM_002074.4:c.830C>G NP_002065.1:p.Ser277Cys NM_002074.4:c.830C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 17, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-17 1 0 +1 1735900 C T 1735900 1735900 - Variant 452797 RCV000523422 SCV000621634 442675 GNB1 NM_002074.4:c.388G>A NP_002065.1:p.Glu130Lys NM_002074.4:c.388G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Oct 16, 2017 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2017-10-16 1 0 +1 1735942 C T 1735942 1735942 - Variant 444149 RCV000513217 SCV000608450 437789 GNB1 NM_002074.4:c.346G>A NP_002065.1:p.Gly116Ser NM_002074.4:c.346G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 31, 2017 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 1 0 +1 1735987 T C 1735987 1735987 - Variant 224717 RCV000210283;RCV000225171;RCV000480671 SCV000266339;SCV000282065;SCV000571181 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 2 1 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Mar 17, 2017 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Expressive language delay;Seizures;Focal seizures with impairment of consciousness or awareness;Intellectual disability;Global developmental delay;Generalized tonic-clonic seizures;Developmental regression;Multifocal epileptiform discharges;EEG with generalized epileptiform discharges;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42;not provided;Not Provided 21956720;27108799 de novo;germline Genetic Alliance:Seizures/6489;HP:HP:0001249;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0002069;HP:HP:0002376;HP:HP:0002384;HP:HP:0002474;HP:HP:0010841;HP:HP:0011198;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001306;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002069;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002384;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002407;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002471;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002489;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006797;Human Phenotype Ontology:HP:0006828;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006854;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007037;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007242;Human Phenotype Ontology:HP:0007247;Human Phenotype Ontology:HP:0007252;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;MedGen:C0036572;MedGen:C0149958;MedGen:C0494475;MedGen:C1843367;MedGen:C1847610;MedGen:C1855009;MedGen:C4020875;MedGen:C4021219;MedGen:C4023476;MedGen:CN001147;MedGen:C4310774;OMIM:616973;MedGen:CN517202 2016-02-10;2016-08-08;2017-03-17 1 0 1 1736004 A G 1736004 1736004 - Variant 224716 RCV000210270 SCV000266338 226497 GNB1 NM_002074.4:c.284T>C NP_002065.1:p.Leu95Pro NM_001282538.1:c.-17T>C:5 prime UTR variant;NM_002074.4:c.284T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 10, 2016 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Expressive language delay;Seizures;Failure to thrive;Feeding difficulties;Nystagmus;Cortical visual impairment;Strabismus;Intellectual disability;Global developmental delay;Growth delay;Limb hypertonia;Inability to walk;Multifocal epileptiform discharges;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0000639;HP:HP:0001249;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001508;HP:HP:0001510;HP:HP:0002474;HP:HP:0002509;HP:HP:0002540;HP:HP:0010841;HP:HP:0011968;HP:HP:0100704;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000595;Human Phenotype Ontology:HP:0000639;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002540;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0011968;Human Phenotype Ontology:HP:0100704;MedGen:C0028738;MedGen:C0036572;MedGen:C0038379;MedGen:C0155320;MedGen:C0231246;MedGen:C0232466;MedGen:C0560046;MedGen:C1838391;MedGen:C1843367;MedGen:C1847610;MedGen:C3552463;MedGen:C4020875;MedGen:C4021219;MedGen:CN001147 2016-02-10 0 0 -1 1737915 T C 1737915 1737915 - Variant 422536 RCV000486531 SCV000572033 404989 GNB1 NM_002074.4:c.266A>G NP_002065.1:p.Lys89Arg NM_002074.4:c.266A>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Oct 24, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-10-24 1 0 -1 1737942 A C 1737942 1737942 - Variant 391609 RCV000439050 SCV000534719 364646 GNB1 NM_002074.4:c.239T>G NP_002065.1:p.Ile80Ser NM_002074.4:c.239T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Dec 16, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-12-16 1 0 -1 1737942 A G 1737942 1737942 - Variant 208722 RCV000190738;RCV000208571;RCV000210259;RCV000225179;RCV000225295;RCV000418135 SCV000244179;SCV000263295;SCV000266337;SCV000282059;SCV000282060;SCV000529467 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Conflicting interpretations of pathogenicity uncertain significance;pathogenic 5 0 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter;no assertion criteria provided Aug 08, 2016 Ambry Genetics;Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes;Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Ambry Genetics;Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes;Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Inborn genetic diseases;MR/ID/DD;Dermatologic (child onset);Neurologic (child onset);Ophthalmologic (child onset);Dystonia;Hypothyroidism;Intellectual disability;Growth delay;Infantile axial hypotonia;Upper limb hypertonia;Cleft palate;Expressive language delay;Seizures;Failure to thrive;Nystagmus;Strabismus;Global developmental delay;Developmental regression;Limb hypertonia;Inability to walk;Multifocal epileptiform discharges;EEG with generalized epileptiform discharges;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42;Myelodysplastic syndrome;not provided;Not Provided 22947299;23037933;23169492;23619275;23652378;23881473;24022298;24121147;24394680;25356970;25560141;25626707;25730230;27108799;20301334;21956720;25485910 germline;de novo;unknown;somatic MeSH:D030342;MedGen:C0950123;GeneTests:25706;Genetic Alliance:Dystonia/2405;Human Phenotype Ontology:HP:0000175;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000750;Human Phenotype Ontology:HP:0000821;Human Phenotype Ontology:HP:0000851;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001332;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002451;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0003222;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0008203;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0009062;Human Phenotype Ontology:HP:0012758;Human Phenotype Ontology:HP:0012759;Human Phenotype Ontology:HP:0200049;MedGen:C0008925;MedGen:C0013421;MedGen:C0020676;MedGen:C0393593;MedGen:C1843367;MedGen:C1970931;MedGen:C2750951;MedGen:C3552463;MedGen:C3806604;MedGen:C4021898;MedGen:CN001379;MedGen:CN117790;MedGen:CN200780;OMIM:PS128100;Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0000639;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001508;HP:HP:0001510;HP:HP:0002376;HP:HP:0002474;HP:HP:0002509;HP:HP:0002540;HP:HP:0010841;HP:HP:0011198;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000639;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002471;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002489;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002540;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006797;Human Phenotype Ontology:HP:0006828;Human Phenotype Ontology:HP:0006854;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007037;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007242;Human Phenotype Ontology:HP:0007247;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;MedGen:C0028738;MedGen:C0036572;MedGen:C0038379;MedGen:C0231246;MedGen:C0560046;MedGen:C1838391;MedGen:C1847610;MedGen:C1855009;MedGen:C4020875;MedGen:C4021219;MedGen:C4023476;MedGen:CN001147;MedGen:C4310774;OMIM:616973;Genetic Alliance:Myelodysplastic+syndromes/5021;MeSH:D009190;MedGen:C0026986;OMIM:137295.0002;OMIM:137295.0014;OMIM:614286;Orphanet:52688;MedGen:CN221809 0000-00-00;2015-12-04;2016-02-10;2016-08-08;2016-06-28 1 1 +1 1737915 T C 1737915 1737915 - Variant 422536 RCV000486531 SCV000572033 404989 GNB1 NM_002074.4:c.266A>G NP_002065.1:p.Lys89Arg NM_002074.4:c.266A>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Oct 24, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-10-24 1 0 +1 1737942 A C 1737942 1737942 - Variant 391609 RCV000439050 SCV000534719 364646 GNB1 NM_002074.4:c.239T>G NP_002065.1:p.Ile80Ser NM_002074.4:c.239T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Dec 16, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-12-16 1 0 +1 1737942 A G 1737942 1737942 - Variant 208722 RCV000190738;RCV000208571;RCV000210259;RCV000225179;RCV000225295;RCV000418135 SCV000244179;SCV000263295;SCV000266337;SCV000282059;SCV000282060;SCV000529467 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Conflicting interpretations of pathogenicity uncertain significance;pathogenic 5 0 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter;no assertion criteria provided Aug 08, 2016 Ambry Genetics;Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes;Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Ambry Genetics;Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes;Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Inborn genetic diseases;MR/ID/DD;Dermatologic (child onset);Neurologic (child onset);Ophthalmologic (child onset);Dystonia;Hypothyroidism;Intellectual disability;Growth delay;Infantile axial hypotonia;Upper limb hypertonia;Cleft palate;Expressive language delay;Seizures;Failure to thrive;Nystagmus;Strabismus;Global developmental delay;Developmental regression;Limb hypertonia;Inability to walk;Multifocal epileptiform discharges;EEG with generalized epileptiform discharges;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42;Myelodysplastic syndrome;not provided;Not Provided 22947299;23037933;23169492;23619275;23652378;23881473;24022298;24121147;24394680;25356970;25560141;25626707;25730230;27108799;20301334;21956720;25485910 germline;de novo;unknown;somatic MeSH:D030342;MedGen:C0950123;GeneTests:25706;Genetic Alliance:Dystonia/2405;Human Phenotype Ontology:HP:0000175;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000750;Human Phenotype Ontology:HP:0000821;Human Phenotype Ontology:HP:0000851;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001332;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002451;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0003222;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0008203;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0009062;Human Phenotype Ontology:HP:0012758;Human Phenotype Ontology:HP:0012759;Human Phenotype Ontology:HP:0200049;MedGen:C0008925;MedGen:C0013421;MedGen:C0020676;MedGen:C0393593;MedGen:C1843367;MedGen:C1970931;MedGen:C2750951;MedGen:C3552463;MedGen:C3806604;MedGen:C4021898;MedGen:CN001379;MedGen:CN117790;MedGen:CN200780;OMIM:PS128100;Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0000639;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001508;HP:HP:0001510;HP:HP:0002376;HP:HP:0002474;HP:HP:0002509;HP:HP:0002540;HP:HP:0010841;HP:HP:0011198;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000639;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002471;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002489;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002540;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006797;Human Phenotype Ontology:HP:0006828;Human Phenotype Ontology:HP:0006854;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007037;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007242;Human Phenotype Ontology:HP:0007247;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;MedGen:C0028738;MedGen:C0036572;MedGen:C0038379;MedGen:C0231246;MedGen:C0560046;MedGen:C1838391;MedGen:C1847610;MedGen:C1855009;MedGen:C4020875;MedGen:C4021219;MedGen:C4023476;MedGen:CN001147;MedGen:C4310774;OMIM:616973;Genetic Alliance:Myelodysplastic+syndromes/5021;MeSH:D009190;MedGen:C0026986;OMIM:137295.0002;OMIM:137295.0014;OMIM:614286;Orphanet:52688;MedGen:CN517202 0000-00-00;2015-12-04;2016-02-10;2016-08-08;2016-06-28 1 1 1 1737942 A T 1737942 1737942 - Variant 224715 RCV000210280;RCV000225195;RCV000225283 SCV000266336;SCV000282062;SCV000282063 226498 GNB1 NM_002074.4:c.239T>A NP_002065.1:p.Ile80Asn NM_001282538.1:c.-62T>A:5 prime UTR variant;NM_002074.4:c.239T>A:missense variant Pathogenic pathogenic 3 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 08, 2016 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM Seizures;Failure to thrive;Feeding difficulties;Focal seizures with impairment of consciousness or awareness;Cortical visual impairment;Global developmental delay;Growth delay;Limb hypertonia;Infantile muscular hypotonia;Multifocal epileptiform discharges;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42;Acute lymphoid leukemia 21956720;27108799;25485910 de novo;unknown;somatic Genetic Alliance:Seizures/6489;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001508;HP:HP:0001510;HP:HP:0002384;HP:HP:0002509;HP:HP:0008947;HP:HP:0010841;HP:HP:0011968;HP:HP:0100704;Human Phenotype Ontology:HP:0000595;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002384;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002449;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002523;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0008947;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010572;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0011968;Human Phenotype Ontology:HP:0100704;MedGen:C0036572;MedGen:C0149958;MedGen:C0155320;MedGen:C0231246;MedGen:C0232466;MedGen:C1838391;MedGen:C1860834;MedGen:C3552463;MedGen:C4020875;MedGen:C4021219;MedGen:CN001147;MedGen:C4310774;OMIM:616973;Gene:100310785;Genetic Alliance:Acute+Lymphoblastic+Leukemia/188;MedGen:C0023449;OMIM:613065;Office of Rare Diseases:522;Orphanet:513;SNOMED CT:91857003 2016-02-10;2016-08-08 0 0 -1 1737948 T C 1737948 1737948 - Variant 224714 RCV000210269;RCV000225134 SCV000266335;SCV000282064 226499 GNB1 NM_002074.4:c.233A>G NP_002065.1:p.Lys78Arg NM_001282538.1:c.-68A>G:5 prime UTR variant;NM_002074.4:c.233A>G:missense variant Pathogenic pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 08, 2016 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM Seizures;Feeding difficulties;Strabismus;Global developmental delay;Growth delay;Infantile muscular hypotonia;EEG with generalized epileptiform discharges;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 21956720;27108799 de novo;germline Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001510;HP:HP:0008947;HP:HP:0011198;HP:HP:0011968;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002449;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002523;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0008947;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010572;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;Human Phenotype Ontology:HP:0011968;MedGen:C0036572;MedGen:C0038379;MedGen:C0232466;MedGen:C1860834;MedGen:C3552463;MedGen:C4020875;MedGen:C4023476;MedGen:CN001147;MedGen:C4310774;OMIM:616973 2016-02-10;2016-08-08 0 0 +1 1737948 T C 1737948 1737948 - Variant 224714 RCV000210269;RCV000225134;RCV000523590 SCV000266335;SCV000282064;SCV000618168 226499 GNB1 NM_002074.4:c.233A>G NP_002065.1:p.Lys78Arg NM_001282538.1:c.-68A>G:5 prime UTR variant;NM_002074.4:c.233A>G:missense variant Pathogenic pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Sep 29, 2017 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Seizures;Feeding difficulties;Strabismus;Global developmental delay;Growth delay;Infantile muscular hypotonia;EEG with generalized epileptiform discharges;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42;not provided;Not Provided 21956720;27108799 de novo;germline Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001510;HP:HP:0008947;HP:HP:0011198;HP:HP:0011968;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002449;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002523;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0008947;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010572;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;Human Phenotype Ontology:HP:0011968;MedGen:C0036572;MedGen:C0038379;MedGen:C0232466;MedGen:C1860834;MedGen:C3552463;MedGen:C4020875;MedGen:C4023476;MedGen:CN001147;MedGen:C4310774;OMIM:616973;MedGen:CN517202 2016-02-10;2016-08-08;2017-09-29 1 0 1 1737951 C G 1737951 1737951 - Variant 431082 RCV000496115 SCV000574520 424605 GNB1 NM_002074.4:c.230G>C NP_002065.1:p.Gly77Ala NM_002074.4:c.230G>C:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter - KK Women’s and Children’s Hospital KK Women’s and Children’s Hospital Mental retardation, autosomal dominant 42 25741868;27759915 de novo Human Phenotype Ontology:HP:0000175;Human Phenotype Ontology:HP:0000565;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001290;Human Phenotype Ontology:HP:0001332;Human Phenotype Ontology:HP:0006721;MedGen:C4310774;OMIM:616973 0000-00-00 1 0 1 1737952 C T 1737952 1737952 - Variant 224713 RCV000210256 SCV000266334 226500 GNB1 NM_002074.4:c.229G>A NP_002065.1:p.Gly77Ser NM_001282538.1:c.-72G>A:5 prime UTR variant;NM_002074.4:c.229G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 10, 2016 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Global developmental delay;Muscular hypotonia 21956720;27108799 de novo HP:HP:0001252;HP:HP:0001263;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;MedGen:C4020875;MedGen:CN001147 2016-02-10 0 0 1 1737953 A C 1737953 1737953 - Variant 224712 RCV000210277 SCV000266333 226501 GNB1 NM_002074.4:c.228T>G NP_002065.1:p.Asp76Glu NM_001282538.1:c.-73T>G:5 prime UTR variant;NM_002074.4:c.228T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 10, 2016 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Failure to thrive;Focal seizures with impairment of consciousness or awareness;Strabismus;Global developmental delay;Limb hypertonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0001250;HP:HP:0001263;HP:HP:0001508;HP:HP:0002384;HP:HP:0002509;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002384;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0010520;MedGen:C0036572;MedGen:C0038379;MedGen:C0149958;MedGen:C0231246;MedGen:C1838391;MedGen:C4020875 2016-02-10 0 0 1 1737954 T C 1737954 1737954 - Variant 224711 RCV000210265;RCV000225254;RCV000225357 SCV000266332;SCV000282057;SCV000282058 226502 GNB1 NM_002074.4:c.227A>G NP_002065.1:p.Asp76Gly NM_001282538.1:c.-74A>G:5 prime UTR variant;NM_002074.4:c.227A>G:missense variant Pathogenic pathogenic 3 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 08, 2016 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM Intellectual disability;Global developmental delay;Infantile muscular hypotonia;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42;Acute lymphoid leukemia 21956720;27108799;25485910 de novo;unknown;somatic HP:HP:0001249;HP:HP:0001252;HP:HP:0001263;HP:HP:0008947;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002449;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002523;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008947;Human Phenotype Ontology:HP:0010572;MedGen:C1843367;MedGen:C1860834;MedGen:C4020875;MedGen:CN001147;MedGen:C4310774;OMIM:616973;Gene:100310785;Genetic Alliance:Acute+Lymphoblastic+Leukemia/188;MedGen:C0023449;OMIM:613065;Office of Rare Diseases:522;Orphanet:513;SNOMED CT:91857003 2016-02-10;2016-08-08 0 0 1 1956362 G A 1956362 1956362 + Variant 256824 RCV000245842 SCV000305551 249668 GABRD NM_000815.4:c.69-19G>A NM_000815.4:c.69-19G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1956459 C T 1956459 1956459 + Variant 374418 RCV000416042 SCV000493139 361304 GABRD NM_000815.4:c.147C>T NP_000806.2:p.Ala49= NM_000815.4:c.147C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 31, 2016 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2016-08-31 1 0 +1 1956396 C T 1956396 1956396 + Variant 460016 RCV000533983 SCV000632051 447688 GABRD NM_000815.4:c.84C>T NP_000806.2:p.Ile28= NM_000815.4:c.84C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 23, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-01-23 1 0 +1 1956408 G C 1956408 1956408 + Variant 460019 RCV000538743 SCV000632054 447653 GABRD NM_000815.4:c.96G>C NP_000806.2:p.Val32= NM_000815.4:c.96G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 26, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-26 1 0 +1 1956459 C T 1956459 1956459 + Variant 374418 RCV000416042 SCV000493139 361304 GABRD NM_000815.4:c.147C>T NP_000806.2:p.Ala49= NM_000815.4:c.147C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 31, 2016 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2016-08-31 1 0 +1 1956970 C T 1956970 1956970 + Variant 460008 RCV000555228 SCV000632041 447663 GABRD NM_000815.4:c.263C>T NP_000806.2:p.Thr88Met NM_000815.4:c.263C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 04, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-05-04 1 0 1 1957037 T C 1957037 1957037 + Variant 256823 RCV000254456 SCV000305550 249669 GABRD NM_000815.4:c.330T>C NP_000806.2:p.Gly110= NM_000815.4:c.330T>C:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 1957112 C T 1957112 1957112 + Variant 460009 RCV000533383 SCV000632042 447690 GABRD NM_000815.4:c.405C>T NP_000806.2:p.His135= NM_000815.4:c.405C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Aug 12, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-08-12 1 0 +1 1957121 G A 1957121 1957121 + Variant 460010 RCV000543716 SCV000632043 447710 GABRD NM_000815.4:c.414G>A NP_000806.2:p.Thr138= NM_000815.4:c.414G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 28, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-28 1 0 +1 1957183 C T 1957183 1957183 + Variant 447367 RCV000516909;RCV000557679 SCV000613370;SCV000632044 440428 GABRD NM_000815.4:c.470+6C>T NM_000815.4:c.470+6C>T:intron variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jul 06, 2017 Athena Diagnostics Inc;Invitae Athena Diagnostics Inc;Invitae not specified;Idiopathic generalized epilepsy 26467025;28492532 germline MedGen:CN169374;Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-06-09;2017-07-06 1 1 +1 1959008 C A 1959008 1959008 + Variant 460011 RCV000536140 SCV000632045 447557 GABRD NM_000815.4:c.471-8C>A NM_000815.4:c.471-8C>A:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 16, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-06-16 1 0 +1 1959037 C T 1959037 1959037 + Variant 460012 RCV000546205 SCV000632046 447712 GABRD NM_000815.4:c.492C>T NP_000806.2:p.Cys164= NM_000815.4:c.492C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 05, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-03-05 1 0 +1 1959067 C T 1959067 1959067 + Variant 460013 RCV000556453 SCV000632047 447670 GABRD NM_000815.4:c.522C>T NP_000806.2:p.Asp174= NM_000815.4:c.522C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 19, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-19 1 0 1 1959075 A C 1959075 1959075 + Variant 16212 RCV000017598 SCV000037871 31251 GABRD NM_000815.4:c.530A>C NP_000806.2:p.Glu177Ala NM_000815.4:c.530A>C:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 01, 2004 OMIM OMIM Generalized epilepsy with febrile seizures plus type 5;GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO 15115768 germline Genetics Home Reference:genetic-epilepsy-with-febrile-seizures-plus;MedGen:C3150401;OMIM:613060 2004-07-01 0 0 -1 1959699 G A 1959699 1959699 + Variant 16213 RCV000017599;RCV000017600;RCV000022558 SCV000037872;SCV000037873;SCV000043847 31252 GABRD NM_000815.4:c.659G>A NP_000806.2:p.Arg220His NM_000815.4:c.659G>A:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 01, 2005 OMIM OMIM Generalized epilepsy with febrile seizures plus type 5;GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO;Epilepsy, juvenile myoclonic 7;Epilepsy, idiopathic generalized 10 15115768;16023832 germline Genetics Home Reference:genetic-epilepsy-with-febrile-seizures-plus;MedGen:C3150401;OMIM:613060;MedGen:C2751604;OMIM:137163.0002;Genetic Alliance:Epilepsy%2C+idiopathic+generalized+10/8327;MedGen:C2751603 2005-06-01 0 0 +1 1959636 G A 1959636 1959636 + Variant 447368 RCV000518032 SCV000613371 440429 GABRD NM_000815.4:c.596G>A NP_000806.2:p.Ser199Asn NM_000815.4:c.596G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 20, 2016 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2016-12-20 1 0 +1 1959699 G A 1959699 1959699 + Variant 16213 RCV000017599;RCV000017600;RCV000022558;RCV000535201 SCV000037872;SCV000037873;SCV000043847;SCV000632048 31252 GABRD NM_000815.4:c.659G>A NP_000806.2:p.Arg220His NM_000815.4:c.659G>A:missense variant Benign, risk factor risk factor;benign 0 0 0 0 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Aug 14, 2017 OMIM;Invitae OMIM;Invitae Generalized epilepsy with febrile seizures plus type 5;GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO;Epilepsy, juvenile myoclonic 7;Epilepsy, idiopathic generalized 10;Idiopathic generalized epilepsy 15115768;16023832;28492532 germline Genetics Home Reference:genetic-epilepsy-with-febrile-seizures-plus;MedGen:C3150401;OMIM:613060;MedGen:C2751604;OMIM:137163.0002;Genetic Alliance:Epilepsy%2C+idiopathic+generalized+10/8327;MedGen:C2751603;Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2005-06-01;2017-08-14 1 0 1 1959708 C T 1959708 1959708 + Variant 218470 RCV000203171 SCV000257725 215187 GABRD NM_000815.4:c.668C>T NP_000806.2:p.Thr223Met NM_000815.4:c.668C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 14, 2015 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 2015-04-14 1 0 -1 1960633 G A 1960633 1960633 + Variant 235308 RCV000224860 SCV000280781 236995 GABRD NM_000815.4:c.775G>A NP_000806.2:p.Val259Ile NM_000815.4:c.775G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 01, 2016 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-02-01-06:00 1 0 +1 1960586 T C 1960586 1960586 + Variant 460014 RCV000550107 SCV000632049 447714 GABRD NM_000815.4:c.728T>C NP_000806.2:p.Leu243Pro NM_000815.4:c.728T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 20, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-20 1 0 +1 1960633 G A 1960633 1960633 + Variant 235308 RCV000224860 SCV000280781 236995 GABRD NM_000815.4:c.775G>A NP_000806.2:p.Val259Ile NM_000815.4:c.775G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 01, 2016 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2016-02-01 1 0 1 1960674 C T 1960674 1960674 + Variant 256825 RCV000248963 SCV000305552 249670 GABRD NM_000815.4:c.816C>T NP_000806.2:p.Ser272= NM_000815.4:c.816C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 1960689 C T 1960689 1960689 + Variant 460015 RCV000528248 SCV000632050 447672 GABRD NM_000815.4:c.831C>T NP_000806.2:p.Pro277= NM_000815.4:c.831C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Feb 23, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-02-23 1 0 +1 1961009 G A 1961009 1961009 + Variant 460017 RCV000550297 SCV000632052 447427 GABRD NM_000815.4:c.867G>A NP_000806.2:p.Thr289= NM_000815.4:c.867G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 22, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-04-22 1 0 +1 1961111 C A 1961111 1961111 + Variant 460018 RCV000528733 SCV000632053 447681 GABRD NM_000815.4:c.969C>A NP_000806.2:p.Ala323= NM_000815.4:c.969C>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 28, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-06-28 1 0 +1 1961144 C T 1961144 1961144 + Variant 460002 RCV000540976 SCV000632034 447558 GABRD NM_000815.4:c.1002C>T NP_000806.2:p.Asn334= NM_000815.4:c.1002C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Aug 12, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-08-12 1 0 1 1961408 C T 1961408 1961408 + Variant 256822 RCV000249647 SCV000305549 249671 GABRD NM_000815.4:c.1060-14C>T NM_000815.4:c.1060-14C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1961470 G A 1961470 1961470 + Variant 375540 RCV000417018 SCV000494562 362315 GABRD NM_000815.4:c.1108G>A NP_000806.2:p.Val370Ile NM_000815.4:c.1108G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 16, 2016 Neurogenetics Laboratory - MEYER,AOU Meyer Neurogenetics Laboratory - MEYER,AOU Meyer Epileptic encephalopathy 25741868 unknown Human Phenotype Ontology:HP:0200134;MedGen:C0543888 2016-11-16 1 0 +1 1961415 C T 1961415 1961415 + Variant 460003 RCV000555572 SCV000632035 447724 GABRD NM_000815.4:c.1060-7C>T NM_000815.4:c.1060-7C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 16, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-05-16 1 0 +1 1961466 C T 1961466 1961466 + Variant 460004 RCV000524915 SCV000632036 447683 GABRD NM_000815.4:c.1104C>T NP_000806.2:p.Ala368= NM_000815.4:c.1104C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Aug 11, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-08-11 1 0 +1 1961467 G A 1961467 1961467 + Variant 447365 RCV000517771 SCV000613368 440430 GABRD NM_000815.4:c.1105G>A NP_000806.2:p.Gly369Ser NM_000815.4:c.1105G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 23, 2017 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2017-02-23 1 0 +1 1961469 C A 1961469 1961469 + Variant 460005 RCV000541195 SCV000632037 447685 GABRD NM_000815.4:c.1107C>A NP_000806.2:p.Gly369= NM_000815.4:c.1107C>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter May 18, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-05-18 1 0 +1 1961470 G A 1961470 1961470 + Variant 375540 RCV000417018;RCV000556057 SCV000494562;SCV000632038 362315 GABRD NM_000815.4:c.1108G>A NP_000806.2:p.Val370Ile NM_000815.4:c.1108G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2017 Neurogenetics Laboratory - MEYER,AOU Meyer;Invitae Neurogenetics Laboratory - MEYER,AOU Meyer;Invitae Epileptic encephalopathy;Idiopathic generalized epilepsy 25741868;28492532 unknown;germline Human Phenotype Ontology:HP:0200134;MedGen:C0543888;Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2016-11-16;2017-06-14 2 0 +1 1961512 C T 1961512 1961512 + Variant 460006 RCV000529757 SCV000632039 447731 GABRD NM_000815.4:c.1150C>T NP_000806.2:p.Pro384Ser NM_000815.4:c.1150C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 29, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-04-29 1 0 +1 1961528 G C 1961528 1961528 + Variant 447366 RCV000518660 SCV000613369 440431 GABRD NM_000815.4:c.1166G>C NP_000806.2:p.Gly389Ala NM_000815.4:c.1166G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 30, 2016 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2016-11-30 1 0 +1 1961564 C T 1961564 1961564 + Variant 460007 RCV000544951 SCV000632040 447432 GABRD NM_000815.4:c.1202C>T NP_000806.2:p.Thr401Met NM_000815.4:c.1202C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 26, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-26 1 0 1 2160164 G A 2160164 2160164 + Variant 392772 RCV000441067 SCV000536096 364806 SKI NM_003036.3:c.-42G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 16, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-16 1 0 1 2160178 G T 2160178 2160178 + Variant 393061 RCV000425453 SCV000536418 364809 SKI NM_003036.3:c.-28G>T Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 17, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-17 1 0 1 2160187 G A 2160187 2160187 + Variant 386778 RCV000444804 SCV000528551 364818 SKI NM_003036.3:c.-19G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 07, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-06-07 1 0 1 2160216 C T 2160216 2160216 + Variant 426734 RCV000490080 SCV000577262 414765 SKI NM_003036.3:c.11C>T NP_003027.1:p.Ala4Val NM_003036.3:c.11C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 06, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-06 1 0 -1 2160264 C T 2160264 2160264 + Variant 409969 RCV000457554 SCV000550372 391048 SKI NM_003036.3:c.59C>T NP_003027.1:p.Thr20Met NM_003036.3:c.59C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 30, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-30 1 0 +1 2160264 C T 2160264 2160264 + Variant 409969 RCV000457554 SCV000550372 391048 SKI NM_003036.3:c.59C>T NP_003027.1:p.Thr20Met NM_003036.3:c.59C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 30, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-30 1 0 1 2160267 T G 2160267 2160267 + Variant 224869 RCV000210450 SCV000266527 226716 SKI NM_003036.3:c.62T>G NP_003027.1:p.Leu21Arg NM_003036.3:c.62T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter - Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome 20301454;23023332 de novo GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 0000-00-00 1 0 1 2160299 C G 2160299 2160299 + Variant 37259 RCV000030817 SCV000266525;SCV000053492 45849 SKI NM_003036.3:c.94C>G NP_003027.1:p.Leu32Val NM_003036.3:c.94C>G:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Feb 01, 2015 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230;24736733 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01;0000-00-00 1 0 -1 2160304 C G 2160304 2160304 + Variant 139112 RCV000173298;RCV000226611 SCV000269831;SCV000224395;SCV000171637;SCV000605113;SCV000309367;SCV000287846 142815 SKI NM_003036.3:c.99C>G NP_003027.1:p.Gly33= NM_003036.3:c.99C>G:synonymous variant Benign benign 0 0 0 0 6 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Feb 15, 2017 ARUP Laboratories, Molecular Genetics and Genomics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae, GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae, not specified;Not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 24033266;25741868;20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-05-27;2015-01-13;2015-11-03;0000-00-00;2017-02-15;2017-01-25 2 0 -1 2160305 G A 2160305 2160305 + Variant 37261 RCV000030819;RCV000200686 SCV000266520;SCV000053494;SCV000250672 45851 SKI NM_003036.3:c.100G>A NP_003027.1:p.Gly34Ser NM_003036.3:c.100G>A:missense variant Pathogenic pathogenic 3 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Feb 01, 2015 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME;not provided;Not Provided 20301454;23023332;23103230;24736733 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN221809 2015-02-01;0000-00-00;2014-12-11 2 0 -1 2160305 G T 2160305 2160305 + Variant 37262 RCV000030820 SCV000053495;SCV000266522 45852 SKI NM_003036.3:c.100G>T NP_003027.1:p.Gly34Cys NM_003036.3:c.100G>T:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Nov 02, 2012 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02;0000-00-00 1 0 +1 2160304 C G 2160304 2160304 + Variant 139112 RCV000173298;RCV000226611 SCV000269831;SCV000224395;SCV000171637;SCV000605113;SCV000309367;SCV000287846 142815 SKI NM_003036.3:c.99C>G NP_003027.1:p.Gly33= NM_003036.3:c.99C>G:synonymous variant Benign benign 0 0 0 0 6 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 03, 2017 ARUP Laboratories, Molecular Genetics and Genomics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae not specified;Not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 24033266;25741868;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-05-27;2015-01-13;2015-11-03;0000-00-00;2017-02-15;2017-08-03 2 0 +1 2160305 G A 2160305 2160305 + Variant 37261 RCV000030819;RCV000200686 SCV000266520;SCV000053494;SCV000250672 45851 SKI NM_003036.3:c.100G>A NP_003027.1:p.Gly34Ser NM_003036.3:c.100G>A:missense variant Pathogenic pathogenic 3 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Feb 01, 2015 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME;not provided;Not Provided 20301454;23023332;23103230;24736733 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN517202 2015-02-01;0000-00-00;2014-12-11 2 0 +1 2160305 G T 2160305 2160305 + Variant 37262 RCV000030820 SCV000053495;SCV000266522;SCV000637271 45852 SKI NM_003036.3:c.100G>T NP_003027.1:p.Gly34Cys NM_003036.3:c.100G>T:missense variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter Jun 15, 2017 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;Invitae OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;Invitae Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230;28492532 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02;0000-00-00;2017-06-15 2 0 1 2160306 G A 2160306 2160306 + Variant 37260 RCV000030818 SCV000266523;SCV000053493 45850 SKI NM_003036.3:c.101G>A NP_003027.1:p.Gly34Asp NM_003036.3:c.101G>A:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Feb 01, 2015 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;24736733 de novo;unknown GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01;0000-00-00 1 0 1 2160306 G T 2160306 2160306 + Variant 39783 RCV000033005 SCV000056784 48382 SKI NM_003036.3:c.101G>T NP_003027.1:p.Gly34Val NM_003036.3:c.101G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 01, 2015 OMIM OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23103230;24736733 unknown GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01 0 0 1 2160308 C T 2160308 2160308 + Variant 39786 RCV000033008 SCV000266524;SCV000056787 48385 SKI NM_003036.3:c.103C>T NP_003027.1:p.Pro35Ser NM_003036.3:c.103C>T:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Feb 01, 2015 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230;24736733 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01;0000-00-00 1 0 1 2160309 C A 2160309 2160309 + Variant 39785 RCV000033007 SCV000056786 48384 SKI NM_003036.3:c.104C>A NP_003027.1:p.Pro35Gln NM_003036.3:c.104C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Nov 02, 2012 OMIM OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23103230 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02 0 0 -1 2160309 C G 2160309 2160309 + Variant 409977 RCV000475694 SCV000597058;SCV000550383 390987 SKI NM_003036.3:c.104C>G NP_003027.1:p.Pro35Arg NM_003036.3:c.104C>G:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely pathogenic 0 1 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Sep 23, 2016 Invitae,;Genetic Services Laboratory, University of Chicago Invitae,;Genetic Services Laboratory, University of Chicago Shprintzen-Goldberg syndrome;Shprintzen-Goldberg syndrome 20301454;23023332;23103230;25741868 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-23;2016-09-21 1 1 +1 2160309 C G 2160309 2160309 + Variant 409977 RCV000475694 SCV000597058;SCV000550383 390987 SKI NM_003036.3:c.104C>G NP_003027.1:p.Pro35Arg NM_003036.3:c.104C>G:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely pathogenic 0 1 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Sep 23, 2016 Genetic Services Laboratory, University of Chicago;Invitae Invitae;Genetic Services Laboratory, University of Chicago Shprintzen-Goldberg syndrome;Shprintzen-Goldberg syndrome 20301454;23023332;23103230;25741868 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-23;2016-09-21 1 1 1 2160310 G A 2160310 2160310 + Variant 386838 RCV000437914 SCV000528633 364811 SKI NM_003036.3:c.105G>A NP_003027.1:p.Pro35= NM_003036.3:c.105G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 22, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-06-22 1 0 +1 2160321 C T 2160321 2160321 + Variant 463393 RCV000557750 SCV000637274 447643 SKI NM_003036.3:c.116C>T NP_003027.1:p.Ser39Leu NM_003036.3:c.116C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 23, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-23 1 0 +1 2160334 G A 2160334 2160334 + Variant 463395 RCV000551618 SCV000637279 447644 SKI NM_003036.3:c.129G>A NP_003027.1:p.Ala43= NM_003036.3:c.129G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 28, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-28 1 0 1 2160343 C T 2160343 2160343 + Variant 213665 RCV000198300 SCV000250648 209445 SKI NM_003036.3:c.138C>T NP_003027.1:p.Ala46= NM_003036.3:c.138C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jan 06, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-01-06 1 0 -1 2160347 A C 2160347 2160347 + Variant 432531 RCV000498045 SCV000590265 425338 SKI NM_003036.3:c.142A>C NP_003027.1:p.Lys48Gln NM_003036.3:c.142A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 05, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-05 1 0 +1 2160347 A C 2160347 2160347 + Variant 432531 RCV000498045;RCV000557338 SCV000590265;SCV000637280 425338 SKI NM_003036.3:c.142A>C NP_003027.1:p.Lys48Gln NM_003036.3:c.142A>C:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 06, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-05;2017-07-06 2 0 1 2160352 G A 2160352 2160352 + Variant 385331 RCV000445172 SCV000526570 364907 SKI NM_003036.3:c.147G>A NP_003027.1:p.Lys49= NM_003036.3:c.147G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 06, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-04-06 1 0 +1 2160388 G C 2160388 2160388 + Variant 463397 RCV000527350 SCV000637286 447807 SKI NM_003036.3:c.183G>C NP_003027.1:p.Pro61= NM_003036.3:c.183G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 10, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-10 1 0 1 2160390 C G 2160390 2160390 + Variant 139113 RCV000128047 SCV000269830;SCV000171638;SCV000309357;SCV000605112 142816 SKI NM_003036.3:c.185C>G NP_003027.1:p.Ala62Gly NM_003036.3:c.185C>G:missense variant Benign benign;benign;benign;benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jun 05, 2017 ARUP Laboratories, Molecular Genetics and Genomics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;Not specified;NOT SPECIFIED 24033266;25741868 germline MedGen:CN169374 2014-05-16;2015-02-20;0000-00-00;2017-06-05 2 0 -1 2160394 G GGTGCCC 2160396 2160401 + Variant 409976 RCV000467436 SCV000550382 391069 SKI NM_003036.3:c.191_196dupTGCCCG NP_003027.1:p.Pro65_Ala66insValPro Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-11 1 0 -1 2160421 C T 2160421 2160421 + Variant 193249 RCV000204079;RCV000225703;RCV000242995 SCV000261590;SCV000224394;SCV000605120;SCV000250664;SCV000309360;SCV000319962 190413 SKI NM_003036.3:c.216C>T NP_003027.1:p.Pro72= NM_003036.3:c.216C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;uncertain significance;benign 0 0 1 4 1 criteria provided, conflicting interpretations criteria provided, single submitter May 05, 2017 Invitae,;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Ambry Genetics Invitae,;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Ambry Genetics Shprintzen-Goldberg syndrome;not specified;NOT SPECIFIED;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301454;25741868;20301299;24882528;25173340 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2016-12-19;2015-06-08;2015-03-02;0000-00-00;2017-05-05;2015-08-08 1 1 +1 2160394 G GGTGCCC 2160396 2160401 + Variant 409976 RCV000467436 SCV000550382 391069 SKI NM_003036.3:c.191_196dupTGCCCG NP_003027.1:p.Pro65_Ala66insValPro Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-11 1 0 +1 2160421 C T 2160421 2160421 + Variant 193249 RCV000204079;RCV000225703;RCV000242995 SCV000261590;SCV000224394;SCV000605120;SCV000250664;SCV000309360;SCV000319962 190413 SKI NM_003036.3:c.216C>T NP_003027.1:p.Pro72= NM_003036.3:c.216C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;uncertain significance;benign 0 0 1 4 1 criteria provided, conflicting interpretations criteria provided, single submitter May 05, 2017 Invitae;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Ambry Genetics Invitae;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Ambry Genetics Shprintzen-Goldberg syndrome;not specified;NOT SPECIFIED;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301454;28492532;25741868;20301299;24882528;25173340 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2017-04-10;2015-06-08;2015-03-02;0000-00-00;2017-05-05;2015-08-08 1 1 1 2160444 A AGCC 2160454 2160456 + Variant 264471 RCV000250462 SCV000320439 257939 SKI NM_003036.3:c.249_251dupGCC NP_003027.1:p.Pro84_Val85insPro NM_003036.3:c.249_251dupGCC:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 10, 2015 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-11-10 1 0 -1 2160453 C T 2160453 2160453 + Variant 409973 RCV000461038 SCV000550378 391061 SKI NM_003036.3:c.248C>T NP_003027.1:p.Pro83Leu NM_003036.3:c.248C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 08, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-08 1 0 +1 2160453 C T 2160453 2160453 + Variant 409973 RCV000461038 SCV000550378 391061 SKI NM_003036.3:c.248C>T NP_003027.1:p.Pro83Leu NM_003036.3:c.248C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 08, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-08 1 0 1 2160484 GTCCGACCGC G 2160488 2160496 + Variant 37263 RCV000030821 SCV000053496;SCV000266526 45853 SKI NM_003036.3:c.283_291delGACCGCTCC NP_003027.1:p.Asp95_Ser97del NM_003036.3:c.283_291delGACCGCTCC:inframe_variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Nov 01, 2012 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-01;0000-00-00 1 0 1 2160484 GTCCGACCGCTCC G 2160485 2160496 + Variant 39784 RCV000033006 SCV000056785 48383 SKI NM_003036.3:c.280_291delTCCGACCGCTCC NP_003027.1:p.Ser94_Ser97del NM_003036.3:c.280_291delTCCGACCGCTCC:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Nov 02, 2012 OMIM OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23103230 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02 0 0 -1 2160499 C T 2160499 2160499 + Variant 213681 RCV000198732;RCV000254475;RCV000467477 SCV000309361;SCV000319836;SCV000560924 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 20, 2017 PreventionGenetics;Ambry Genetics;Invitae, PreventionGenetics;Ambry Genetics;Invitae, not specified;NOT SPECIFIED;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections;Shprintzen-Goldberg syndrome 25741868;20301299;24882528;25173340;20301454 germline MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 0000-00-00;2015-08-11;2017-01-20 2 0 +1 2160499 C T 2160499 2160499 + Variant 213681 RCV000198732;RCV000254475;RCV000467477 SCV000309361;SCV000319836;SCV000560924 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2017 PreventionGenetics;Ambry Genetics;Invitae PreventionGenetics;Ambry Genetics;Invitae not specified;NOT SPECIFIED;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections;Shprintzen-Goldberg syndrome 25741868;20301299;24882528;25173340;20301454;28492532 germline MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 0000-00-00;2015-08-11;2017-06-14 2 0 1 2160516 T C 2160516 2160516 + Variant 264417 RCV000246817 SCV000320341 257941 SKI NM_003036.3:c.311T>C NP_003027.1:p.Val104Ala NM_003036.3:c.311T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 17, 2015 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-09-17 1 0 -1 2160517 A T 2160517 2160517 + Variant 227947 RCV000215560 SCV000531770;SCV000270847 228355 SKI NM_003036.3:c.312A>T NP_003027.1:p.Val104= NM_003036.3:c.312A>T:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 21, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-08-11;2016-09-21 2 0 +1 2160517 A T 2160517 2160517 + Variant 227947 RCV000215560;RCV000543423 SCV000531770;SCV000270847;SCV000637299 228355 SKI NM_003036.3:c.312A>T NP_003027.1:p.Val104= NM_003036.3:c.312A>T:synonymous variant Likely benign likely benign 0 0 0 3 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 18, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Shprintzen-Goldberg syndrome 24033266;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-08-11;2016-09-21;2017-04-18 2 0 1 2160547 G T 2160547 2160547 + Variant 390742 RCV000418308 SCV000533655 364910 SKI NM_003036.3:c.342G>T NP_003027.1:p.Val114= NM_003036.3:c.342G>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 16, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-16 1 0 1 2160552 G A 2160552 2160552 + Variant 37258 RCV000030816 SCV000266519;SCV000053491 45848 SKI NM_003036.3:c.347G>A NP_003027.1:p.Gly116Glu NM_003036.3:c.347G>A:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Nov 01, 2012 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-01;0000-00-00 1 0 -1 2160554 G C 2160554 2160554 + Variant 224868 RCV000210472;RCV000498943 SCV000266521;SCV000589671 226717 SKI NM_003036.3:c.349G>C NP_003027.1:p.Gly117Arg NM_003036.3:c.349G>C:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 1 1 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 02, 2017 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx Shprintzen-Goldberg syndrome;not provided;Not Provided 20301454;23023332 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN221809 0000-00-00;2017-06-02 2 0 +1 2160554 G C 2160554 2160554 + Variant 224868 RCV000210472;RCV000498943 SCV000266521;SCV000589671 226717 SKI NM_003036.3:c.349G>C NP_003027.1:p.Gly117Arg NM_003036.3:c.349G>C:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 1 1 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 02, 2017 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx Shprintzen-Goldberg syndrome;not provided;Not Provided 20301454;23023332 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN517202 0000-00-00;2017-06-02 2 0 1 2160557 G A 2160557 2160557 + Variant 222819 RCV000208203 SCV000264224 224190 SKI NM_003036.3:c.352G>A NP_003027.1:p.Glu118Lys NM_003036.3:c.352G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Oct 22, 2015 Blueprint Genetics Blueprint Genetics Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-10-22 1 0 -1 2160565 C T 2160565 2160565 + Variant 213682 RCV000200253;RCV000461600 SCV000250666;SCV000605119;SCV000560926 209448 SKI NM_003036.3:c.360C>T NP_003027.1:p.Arg120= NM_003036.3:c.360C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 16, 2017 ARUP Laboratories, Molecular Genetics and Genomics;GeneDx;Invitae, GeneDx;ARUP Laboratories, Molecular Genetics and Genomics;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-05-06;2017-03-16;2016-12-08 2 0 +1 2160565 C T 2160565 2160565 + Variant 213682 RCV000200253;RCV000461600 SCV000250666;SCV000605119;SCV000560926 209448 SKI NM_003036.3:c.360C>T NP_003027.1:p.Arg120= NM_003036.3:c.360C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 03, 2017 ARUP Laboratories, Molecular Genetics and Genomics;GeneDx;Invitae GeneDx;ARUP Laboratories, Molecular Genetics and Genomics;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-05-06;2017-03-16;2017-05-03 2 0 1 2160598 G A 2160598 2160598 + Variant 264423 RCV000254423 SCV000320354 257943 SKI NM_003036.3:c.393G>A NP_003027.1:p.Leu131= NM_003036.3:c.393G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 04, 2015 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-10-04 1 0 -1 2160622 C T 2160622 2160622 + Variant 213683 RCV000196335;RCV000234780 SCV000250667;SCV000309362;SCV000287840 209449 SKI NM_003036.3:c.417C>T NP_003027.1:p.Ile139= NM_003036.3:c.417C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 08, 2016 PreventionGenetics;GeneDx;Invitae, GeneDx;PreventionGenetics;Invitae, not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-12-02;0000-00-00;2016-10-08 2 0 +1 2160604 C T 2160604 2160604 + Variant 463408 RCV000557967 SCV000637300 447808 SKI NM_003036.3:c.399C>T NP_003027.1:p.Asp133= NM_003036.3:c.399C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 07, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-07 1 0 +1 2160622 C T 2160622 2160622 + Variant 213683 RCV000196335;RCV000234780 SCV000250667;SCV000309362;SCV000287840 209449 SKI NM_003036.3:c.417C>T NP_003027.1:p.Ile139= NM_003036.3:c.417C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 27, 2017 PreventionGenetics;GeneDx;Invitae GeneDx;PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-12-02;0000-00-00;2017-06-27 2 0 1 2160640 G GCTC 2160641 2160642 + Variant 440270 RCV000506250 SCV000605118 433916 SKI NM_003036.3:c.436_437insCTC NP_003027.1:p.Glu145_Leu146insPro Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 15, 2017 ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories, Molecular Genetics and Genomics not specified germline MedGen:CN169374 2017-03-15 1 0 -1 2160661 C T 2160661 2160661 + Variant 139111 RCV000128045;RCV000228536;RCV000245385 SCV000171636;SCV000309363;SCV000287841;SCV000319402 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 25, 2017 PreventionGenetics;GeneDx;Invitae,;Ambry Genetics GeneDx;PreventionGenetics;Invitae,;Ambry Genetics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 25741868;20301454;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-19;0000-00-00;2017-01-25;2015-02-05 2 0 -1 2160669 C G 2160669 2160669 + Variant 373594 RCV000413541;RCV000461900 SCV000492202;SCV000550384 359313 SKI NM_003036.3:c.464C>G NP_003027.1:p.Ala155Gly NM_003036.3:c.464C>G:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 29, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-29;2016-05-22 2 0 -1 2160676 G A 2160676 2160676 + Variant 239478 RCV000232451;RCV000247169 SCV000287842;SCV000309364 238211 SKI NM_003036.3:c.471G>A NP_003027.1:p.Gln157= NM_003036.3:c.471G>A:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 27, 2016 Invitae,;PreventionGenetics Invitae,;PreventionGenetics Shprintzen-Goldberg syndrome;not specified;NOT SPECIFIED 20301454;25741868 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN169374 2016-03-27;0000-00-00 2 0 -1 2160692 G A 2160692 2160692 + Variant 239479 RCV000234052 SCV000287843 238212 SKI NM_003036.3:c.487G>A NP_003027.1:p.Val163Ile NM_003036.3:c.487G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 12, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-01-12 1 0 +1 2160661 C T 2160661 2160661 + Variant 139111 RCV000128045;RCV000228536;RCV000245385 SCV000171636;SCV000309363;SCV000287841;SCV000319402 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 26, 2017 PreventionGenetics;GeneDx;Invitae;Ambry Genetics GeneDx;PreventionGenetics;Invitae;Ambry Genetics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 25741868;20301454;28492532;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-19;0000-00-00;2017-07-26;2015-02-05 2 0 +1 2160669 C G 2160669 2160669 + Variant 373594 RCV000413541;RCV000461900 SCV000492202;SCV000550384 359313 SKI NM_003036.3:c.464C>G NP_003027.1:p.Ala155Gly NM_003036.3:c.464C>G:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 24, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-29;2017-04-24 2 0 +1 2160676 G A 2160676 2160676 + Variant 239478 RCV000232451;RCV000247169 SCV000287842;SCV000309364 238211 SKI NM_003036.3:c.471G>A NP_003027.1:p.Gln157= NM_003036.3:c.471G>A:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 27, 2016 Invitae;PreventionGenetics Invitae;PreventionGenetics Shprintzen-Goldberg syndrome;not specified;NOT SPECIFIED 20301454;25741868 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN169374 2016-03-27;0000-00-00 2 0 +1 2160692 G A 2160692 2160692 + Variant 239479 RCV000234052 SCV000287843 238212 SKI NM_003036.3:c.487G>A NP_003027.1:p.Val163Ile NM_003036.3:c.487G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 12, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-01-12 1 0 1 2160700 C T 2160700 2160700 + Variant 258901 RCV000250311 SCV000309365 249732 SKI NM_003036.3:c.495C>T NP_003027.1:p.Gly165= NM_003036.3:c.495C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 2160704 CT GG 2160704 2160705 + Variant 213703 RCV000200337 SCV000250689 209450 SKI NM_003036.3:c.499_500delCTinsGG NP_003027.1:p.Leu167Gly NM_003036.3:c.499_500delCTinsGG:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Aug 08, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-08-08 1 0 +1 2160704 CT GG 2160704 2160705 + Variant 213703 RCV000200337 SCV000250689 209450 SKI NM_003036.3:c.499_500delCTinsGG NP_003027.1:p.Leu167Gly NM_003036.3:c.499_500delCTinsGG:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Aug 08, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-08-08 1 0 +1 2160716 G A 2160716 2160716 + Variant 450852 RCV000519513 SCV000619474 442725 SKI NM_003036.3:c.511G>A NP_003027.1:p.Ala171Thr NM_003036.3:c.511G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 25, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-07-25 1 0 1 2160744 C T 2160744 2160744 + Variant 213684 RCV000198523 SCV000250668 209451 SKI NM_003036.3:c.539C>T NP_003027.1:p.Thr180Met NM_003036.3:c.539C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 07, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-04-07 1 0 1 2160830 C A 2160830 2160830 + Variant 264172 RCV000242214 SCV000319905 257942 SKI NM_003036.3:c.625C>A NP_003027.1:p.Leu209Met NM_003036.3:c.625C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 24, 2015 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-07-24 1 0 -1 2160845 A G 2160845 2160845 + Variant 213685 RCV000200824 SCV000250669 209452 SKI NM_003036.3:c.640A>G NP_003027.1:p.Ser214Gly NM_003036.3:c.640A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-21 1 0 +1 2160845 A G 2160845 2160845 + Variant 213685 RCV000200824;RCV000551275 SCV000250669;SCV000637302 209452 SKI NM_003036.3:c.640A>G NP_003027.1:p.Ser214Gly NM_003036.3:c.640A>G:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 08, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-07-21;2017-03-08 2 0 1 2160907 C G 2160907 2160907 + Variant 388701 RCV000441081 SCV000531061 364813 SKI NM_003036.3:c.702C>G NP_003027.1:p.Pro234= NM_003036.3:c.702C>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 17, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-08-17 1 0 1 2160931 C T 2160931 2160931 + Variant 381375 RCV000438601 SCV000520593 364674 SKI NM_003036.3:c.726C>T NP_003027.1:p.Ala242= NM_003036.3:c.726C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 05, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-11-05 1 0 1 2160941 C T 2160941 2160941 + Variant 424243 RCV000484316 SCV000574033 405059 SKI NM_003036.3:c.736C>T NP_003027.1:p.Gln246Ter NM_003036.3:c.736C>T:nonsense Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 13, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-13 1 0 1 2160973 G A 2160973 2160973 + Variant 381998 RCV000435128 SCV000521746 364823 SKI NM_003036.3:c.768G>A NP_003027.1:p.Pro256= NM_003036.3:c.768G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 02, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-12-02 1 0 -1 2161003 C T 2161003 2161003 + Variant 193248 RCV000225717;RCV000243648;RCV000465929 SCV000250645;SCV000309366;SCV000224393;SCV000319450;SCV000560938 190412 SKI NM_003036.3:c.798C>T NP_003027.1:p.Ala266= NM_003036.3:c.798C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;benign;likely benign 0 0 1 2 2 criteria provided, conflicting interpretations criteria provided, single submitter Jun 13, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Ambry Genetics;Invitae, EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;PreventionGenetics;Ambry Genetics;Invitae, not specified;NOT SPECIFIED;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections;Shprintzen-Goldberg syndrome 25741868;20301299;24882528;25173340;20301454 germline MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-12-19;2014-09-04;0000-00-00;2015-03-06;2016-06-13 1 1 -1 2161004 C T 2161004 2161004 + Variant 213663 RCV000200723;RCV000228953 SCV000250646;SCV000287844 209453 SKI NM_003036.3:c.799C>T NP_003027.1:p.Leu267= NM_003036.3:c.799C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 26, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-05-18;2016-09-26 2 0 +1 2161003 C T 2161003 2161003 + Variant 193248 RCV000225717;RCV000243648;RCV000465929 SCV000250645;SCV000309366;SCV000224393;SCV000319450;SCV000560938 190412 SKI NM_003036.3:c.798C>T NP_003027.1:p.Ala266= NM_003036.3:c.798C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;benign;likely benign 0 0 1 2 2 criteria provided, conflicting interpretations criteria provided, single submitter Apr 03, 2017 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Ambry Genetics;Invitae EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;PreventionGenetics;Ambry Genetics;Invitae not specified;NOT SPECIFIED;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections;Shprintzen-Goldberg syndrome 25741868;20301299;24882528;25173340;20301454;28492532 germline MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-12-19;2014-09-04;0000-00-00;2015-03-06;2017-04-03 1 1 +1 2161004 C T 2161004 2161004 + Variant 213663 RCV000200723;RCV000228953 SCV000250646;SCV000287844 209453 SKI NM_003036.3:c.799C>T NP_003027.1:p.Leu267= NM_003036.3:c.799C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 02, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-05-18;2017-05-02 2 0 1 2161049 C A 2161049 2161049 + Variant 264492 RCV000251439 SCV000320468 257944 SKI NM_003036.3:c.844C>A NP_003027.1:p.Arg282= NM_003036.3:c.844C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 06, 2015 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-11-06 1 0 1 2161050 G A 2161050 2161050 + Variant 393089 RCV000421845 SCV000536449 364679 SKI NM_003036.3:c.845G>A NP_003027.1:p.Arg282Gln NM_003036.3:c.845G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 20, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-20 1 0 1 2161098 C G 2161098 2161098 + Variant 436729 RCV000502689 SCV000597059 427715 SKI NM_003036.3:c.893C>G NP_003027.1:p.Ala298Gly NM_003036.3:c.893C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 24, 2016 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-06-24 1 0 -1 2161102 C T 2161102 2161102 + Variant 380753 RCV000417582;RCV000458602 SCV000519151;SCV000560931 364819 SKI NM_003036.3:c.897C>T NP_003027.1:p.Arg299= NM_003036.3:c.897C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 14, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-14;2016-04-18 2 0 +1 2161102 C T 2161102 2161102 + Variant 380753 RCV000417582;RCV000458602 SCV000519151;SCV000560931 364819 SKI NM_003036.3:c.897C>T NP_003027.1:p.Arg299= NM_003036.3:c.897C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 14, 2016 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-14;2016-04-18 2 0 1 2161111 C T 2161111 2161111 + Variant 389154 RCV000442843 SCV000531605 364915 SKI NM_003036.3:c.906C>T NP_003027.1:p.Arg302= NM_003036.3:c.906C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 07, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-07 1 0 1 2161124 G A 2161124 2161124 + Variant 213686 RCV000196881 SCV000250670 209454 SKI NM_003036.3:c.919G>A NP_003027.1:p.Val307Met NM_003036.3:c.919G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 17, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-04-17 1 0 1 2161143 A G 2161143 2161143 + Variant 213687 RCV000199076 SCV000250671 209455 SKI NM_003036.3:c.938A>G NP_003027.1:p.Tyr313Cys NM_003036.3:c.938A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 02, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-03-02 1 0 -1 2161153 G A 2161153 2161153 + Variant 213664 RCV000196098;RCV000231718 SCV000250647;SCV000287845 209456 SKI NM_003036.3:c.948G>A NP_003027.1:p.Lys316= NM_003036.3:c.948G>A:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 01, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-08-02;2016-07-01 2 0 +1 2161153 G A 2161153 2161153 + Variant 213664 RCV000196098;RCV000231718 SCV000250647;SCV000287845 209456 SKI NM_003036.3:c.948G>A NP_003027.1:p.Lys316= NM_003036.3:c.948G>A:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 01, 2016 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-08-02;2016-07-01 2 0 1 2161169 C T 2161169 2161169 + Variant 264199 RCV000252076 SCV000319953 257945 SKI NM_003036.3:c.964C>T NP_003027.1:p.Pro322Ser NM_003036.3:c.964C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 14, 2015 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-08-14 1 0 1 2234410 A G 2234410 2234410 + Variant 289941 RCV000284270 SCV000344401;SCV000531468 274178 SKI NM_003036.3:c.970-7A>G NM_003036.3:c.970-7A>G:intron variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Sep 02, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2016-08-26;2016-09-02 1 1 -1 2234447 C T 2234447 2234447 + Variant 213688 RCV000198950 SCV000250674 209457 SKI NM_003036.3:c.1000C>T NP_003027.1:p.Pro334Ser NM_003036.3:c.1000C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 29, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-05-29 1 0 +1 2234447 C T 2234447 2234447 + Variant 213688 RCV000198950;RCV000539809 SCV000250674;SCV000637270 209457 SKI NM_003036.3:c.1000C>T NP_003027.1:p.Pro334Ser NM_003036.3:c.1000C>T:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 27, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-05-29;2017-03-27 2 0 1 2234452 A G 2234452 2234452 + Variant 392801 RCV000420643 SCV000536128 364935 SKI NM_003036.3:c.1005A>G NP_003027.1:p.Lys335= NM_003036.3:c.1005A>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 17, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-17 1 0 -1 2234480 G A 2234480 2234480 + Variant 213666 RCV000200606;RCV000474882 SCV000250649;SCV000550374 209458 SKI NM_003036.3:c.1033G>A NP_003027.1:p.Ala345Thr NM_003036.3:c.1033G>A:missense variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 28, 2017 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-28;2016-11-18 1 1 +1 2234480 G A 2234480 2234480 + Variant 213666 RCV000200606;RCV000474882 SCV000250649;SCV000550374 209458 SKI NM_003036.3:c.1033G>A NP_003027.1:p.Ala345Thr NM_003036.3:c.1033G>A:missense variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 28, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-28;2017-04-12 1 1 1 2234484 CT C 2234486 2234486 + Variant 432707 RCV000498739 SCV000590461 425341 SKI NM_003036.3:c.1039delT NP_003027.1:p.Ser347Profs NM_003036.3:c.1039delT:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 12, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-12 1 0 1 2234488 C T 2234488 2234488 + Variant 384269 RCV000417667 SCV000524999 364878 SKI NM_003036.3:c.1041C>T NP_003027.1:p.Ser347= NM_003036.3:c.1041C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 26, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-02-26 1 0 1 2234515 G A 2234515 2234515 + Variant 389348 RCV000436780 SCV000531839 364937 SKI NM_003036.3:c.1068G>A NP_003027.1:p.Leu356= NM_003036.3:c.1068G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 13, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-13 1 0 -1 2234517 G A 2234517 2234517 + Variant 213689 RCV000195711 SCV000250675 209459 SKI NM_003036.3:c.1070G>A NP_003027.1:p.Arg357Gln NM_003036.3:c.1070G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 24, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-24 1 0 +1 2234516 C T 2234516 2234516 + Variant 463392 RCV000532859 SCV000637272 447787 SKI NM_003036.3:c.1069C>T NP_003027.1:p.Arg357Trp NM_003036.3:c.1069C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 30, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-30 1 0 +1 2234517 G A 2234517 2234517 + Variant 213689 RCV000195711;RCV000542904 SCV000250675;SCV000637273 209459 SKI NM_003036.3:c.1070G>A NP_003027.1:p.Arg357Gln NM_003036.3:c.1070G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 24, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-24;2017-03-26 2 0 1 2234528 G A 2234528 2234528 + Variant 222820 RCV000208423 SCV000264225 224191 SKI NM_003036.3:c.1081G>A NP_003027.1:p.Gly361Ser NM_003036.3:c.1081G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 01, 2015 Blueprint Genetics Blueprint Genetics not specified;not specified germline MedGen:CN169374 2015-07-01 1 0 1 2234718 C T 2234718 2234718 + Variant 390923 RCV000443858 SCV000533875 364886 SKI NM_003036.3:c.1096-6C>T NM_003036.3:c.1096-6C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 28, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-28 1 0 -1 2234745 C T 2234745 2234745 + Variant 409970 RCV000465525 SCV000550373 391067 SKI NM_003036.3:c.1117C>T NP_003027.1:p.Arg373Cys NM_003036.3:c.1117C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 16, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-16 1 0 -1 2234752 G A 2234752 2234752 + Variant 444150 RCV000513628 SCV000608451 437790 SKI NM_003036.3:c.1124G>A NP_003027.1:p.Arg375His NM_003036.3:c.1124G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 30, 2017 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-06-30 1 0 +1 2234726 C G 2234726 2234726 + Variant 451982 RCV000522318 SCV000620752 442734 SKI NM_003036.3:c.1098C>G NP_003027.1:p.Ser366Arg NM_003036.3:c.1098C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 22, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-09-22 1 0 +1 2234737 T C 2234737 2234737 + Variant 449711 RCV000522336 SCV000618067 442735 SKI NM_003036.3:c.1109T>C NP_003027.1:p.Val370Ala NM_003036.3:c.1109T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-26 1 0 +1 2234745 C T 2234745 2234745 + Variant 409970 RCV000465525 SCV000550373 391067 SKI NM_003036.3:c.1117C>T NP_003027.1:p.Arg373Cys NM_003036.3:c.1117C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 16, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-16 1 0 +1 2234752 G A 2234752 2234752 + Variant 444150 RCV000513628 SCV000608451 437790 SKI NM_003036.3:c.1124G>A NP_003027.1:p.Arg375His NM_003036.3:c.1124G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 30, 2017 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-06-30 1 0 1 2234767 G A 2234767 2234767 + Variant 213690 RCV000197996 SCV000250676 209461 SKI NM_003036.3:c.1139G>A NP_003027.1:p.Arg380Gln NM_003036.3:c.1139G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 16, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-06-16 1 0 1 2234790 G A 2234790 2234790 + Variant 213667 RCV000197343 SCV000250650 209462 SKI NM_003036.3:c.1162G>A NP_003027.1:p.Ala388Thr NM_003036.3:c.1162G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 29, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-12-29 1 0 -1 2234791 C T 2234791 2234791 + Variant 213668 RCV000198871;RCV000204037;RCV000436746 SCV000605116;SCV000250651;SCV000309348;SCV000261993;SCV000511006 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 26, 2017 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;GeneDx;Invitae,;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics GeneDx;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae,;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;not provided 25741868;20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN221809 2016-08-19;0000-00-00;2016-05-08;2016-12-29;2017-01-26-06:00 2 0 -1 2234792 G A 2234792 2234792 + Variant 415896 RCV000463122 SCV000560929 391070 SKI NM_003036.3:c.1164G>A NP_003027.1:p.Ala388= NM_003036.3:c.1164G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 13, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-13 1 0 +1 2234791 C T 2234791 2234791 + Variant 213668 RCV000198871;RCV000204037;RCV000436746 SCV000605116;SCV000250651;SCV000309348;SCV000261993;SCV000511006 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 20, 2017 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;GeneDx;Invitae;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics GeneDx;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;not provided 25741868;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN517202 2016-08-19;0000-00-00;2016-05-08;2017-07-20;2017-01-26 2 0 +1 2234792 G A 2234792 2234792 + Variant 415896 RCV000463122 SCV000560929 391070 SKI NM_003036.3:c.1164G>A NP_003027.1:p.Ala388= NM_003036.3:c.1164G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 13, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-13 1 0 1 2234811 C T 2234811 2234811 + Variant 213691 RCV000198841 SCV000250677 209464 SKI NM_003036.3:c.1183C>T NP_003027.1:p.Pro395Ser NM_003036.3:c.1183C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 02, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-03-02 1 0 1 2234816 C T 2234816 2234816 + Variant 392508 RCV000422024 SCV000535788 364903 SKI NM_003036.3:c.1188C>T NP_003027.1:p.His396= NM_003036.3:c.1188C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 11, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-11 1 0 -1 2234824 C T 2234824 2234824 + Variant 213692 RCV000195594;RCV000227742 SCV000309349;SCV000250678;SCV000287832 209465 SKI NM_003036.3:c.1196C>T NP_003027.1:p.Ala399Val NM_003036.3:c.1196C>T:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 2 0 criteria provided, conflicting interpretations criteria provided, single submitter May 04, 2017 PreventionGenetics;GeneDx;Invitae, GeneDx;PreventionGenetics;Invitae, not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-24;0000-00-00;2016-05-05 1 1 +1 2234817 C T 2234817 2234817 + Variant 463394 RCV000531370 SCV000637275 447833 SKI NM_003036.3:c.1189C>T NP_003027.1:p.Leu397Phe NM_003036.3:c.1189C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-01 1 0 +1 2234824 C T 2234824 2234824 + Variant 213692 RCV000195594;RCV000227742;RCV000514089 SCV000309349;SCV000250678;SCV000678208;SCV000287832;SCV000609855 209465 SKI NM_003036.3:c.1196C>T NP_003027.1:p.Ala399Val NM_003036.3:c.1196C>T:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 2 3 0 criteria provided, conflicting interpretations criteria provided, single submitter Aug 01, 2017 PreventionGenetics;GeneDx;Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago;Invitae;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics GeneDx;PreventionGenetics;Invitae;Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;not provided 25741868;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN517202 2016-08-24;0000-00-00;2017-06-29;2017-08-01;2017-05-04 1 1 1 2234825 C A 2234825 2234825 + Variant 386213 RCV000438909 SCV000527766 364718 SKI NM_003036.3:c.1197C>A NP_003027.1:p.Ala399= NM_003036.3:c.1197C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 18, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-18 1 0 -1 2234833 G A 2234833 2234833 + Variant 409972 RCV000466620 SCV000550376 390988 SKI NM_003036.3:c.1205G>A NP_003027.1:p.Arg402Gln NM_003036.3:c.1205G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 03, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-03 1 0 -1 2234849 C T 2234849 2234849 + Variant 213669 RCV000200400;RCV000470601 SCV000250652;SCV000560930 209466 SKI NM_003036.3:c.1211+10C>T NM_003036.3:c.1211+10C>T:intron variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 05, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-04;2016-09-05 2 0 +1 2234833 G A 2234833 2234833 + Variant 409972 RCV000466620 SCV000550376 390988 SKI NM_003036.3:c.1205G>A NP_003027.1:p.Arg402Gln NM_003036.3:c.1205G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 03, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-03 1 0 +1 2234849 C T 2234849 2234849 + Variant 213669 RCV000200400;RCV000470601 SCV000250652;SCV000560930 209466 SKI NM_003036.3:c.1211+10C>T NM_003036.3:c.1211+10C>T:intron variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 03, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-04;2017-03-03 2 0 1 2234850 G A 2234850 2234850 + Variant 213670 RCV000197227 SCV000250653 209467 SKI NM_003036.3:c.1211+11G>A NM_003036.3:c.1211+11G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Aug 08, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-08-08 1 0 1 2234856 C T 2234856 2234856 + Variant 258899 RCV000248676 SCV000309350 249763 SKI NM_003036.3:c.1211+17C>T NM_003036.3:c.1211+17C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 2234858 C T 2234858 2234858 + Variant 258900 RCV000251824 SCV000309351;SCV000514629 249764 SKI NM_003036.3:c.1211+19C>T NM_003036.3:c.1211+19C>T:intron variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Dec 06, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-12-06 2 0 -1 2235271 C T 2235271 2235271 + Variant 213671 RCV000199440;RCV000415889 SCV000309352;SCV000250654;SCV000493144 209468 SKI NM_003036.3:c.1212-8C>T NM_003036.3:c.1212-8C>T:intron variant Conflicting interpretations of pathogenicity benign;likely benign;uncertain significance 0 0 1 1 1 criteria provided, conflicting interpretations criteria provided, single submitter Aug 31, 2016 PreventionGenetics;GeneDx;Praxis fuer Humangenetik Tuebingen, GeneDx;PreventionGenetics;Praxis fuer Humangenetik Tuebingen, not specified;NOT SPECIFIED;not provided 25741868 germline MedGen:CN169374;MedGen:CN221809;MedGen:CN517202 2015-04-15;0000-00-00;2016-08-31 1 1 +1 2234858 C T 2234858 2234858 + Variant 258900 RCV000251824 SCV000309351;SCV000514629 249764 SKI NM_003036.3:c.1211+19C>T NM_003036.3:c.1211+19C>T:intron variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Jul 08, 2017 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2017-07-08 2 0 +1 2235271 C T 2235271 2235271 + Variant 213671 RCV000199440;RCV000415889;RCV000546304 SCV000309352;SCV000250654;SCV000493144;SCV000637276 209468 SKI NM_003036.3:c.1212-8C>T NM_003036.3:c.1212-8C>T:intron variant Conflicting interpretations of pathogenicity benign;likely benign;uncertain significance 0 0 1 2 1 criteria provided, conflicting interpretations criteria provided, single submitter May 15, 2017 PreventionGenetics;GeneDx;Praxis fuer Humangenetik Tuebingen;Invitae GeneDx;PreventionGenetics;Praxis fuer Humangenetik Tuebingen;Invitae not specified;NOT SPECIFIED;not provided;Shprintzen-Goldberg syndrome 25741868;20301454;28492532 germline MedGen:CN169374;MedGen:CN221809;MedGen:CN517202;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-04-15;0000-00-00;2016-08-31;2017-05-15 1 1 1 2235310 G A 2235310 2235310 + Variant 222821 RCV000208100 SCV000264226 224192 SKI NM_003036.3:c.1243G>A NP_003027.1:p.Val415Met NM_003036.3:c.1243G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 01, 2015 Blueprint Genetics Blueprint Genetics Marfanoid habitus germline MedGen:C1839796 2015-04-01 1 0 1 2235314 C T 2235314 2235314 + Variant 213693 RCV000197794 SCV000250679 209469 SKI NM_003036.3:c.1247C>T NP_003027.1:p.Ala416Val NM_003036.3:c.1247C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 02, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-02 1 0 -1 2235321 C T 2235321 2235321 + Variant 392009 RCV000441456 SCV000535200 364908 SKI NM_003036.3:c.1254C>T NP_003027.1:p.Asn418= NM_003036.3:c.1254C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-21 1 0 -1 2235325 G A 2235325 2235325 + Variant 220793 RCV000205977;RCV000507645 SCV000261638;SCV000605111 221089 SKI NM_003036.3:c.1258G>A NP_003027.1:p.Ala420Thr NM_003036.3:c.1258G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 13, 2016 Invitae,;ARUP Laboratories, Molecular Genetics and Genomics Invitae,;ARUP Laboratories, Molecular Genetics and Genomics Shprintzen-Goldberg syndrome;not specified 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN169374 2015-10-28;2016-09-13 2 0 +1 2235321 C T 2235321 2235321 + Variant 392009 RCV000441456;RCV000558563 SCV000535200;SCV000637277 364908 SKI NM_003036.3:c.1254C>T NP_003027.1:p.Asn418= NM_003036.3:c.1254C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 20, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-21;2017-01-20 2 0 +1 2235325 G A 2235325 2235325 + Variant 220793 RCV000205977;RCV000507645 SCV000261638;SCV000605111 221089 SKI NM_003036.3:c.1258G>A NP_003027.1:p.Ala420Thr NM_003036.3:c.1258G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 28, 2017 Invitae;ARUP Laboratories, Molecular Genetics and Genomics Invitae;ARUP Laboratories, Molecular Genetics and Genomics Shprintzen-Goldberg syndrome;not specified 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN169374 2017-03-28;2016-09-13 2 0 1 2235330 C T 2235330 2235330 + Variant 263904 RCV000252813 SCV000319412 257947 SKI NM_003036.3:c.1263C>T NP_003027.1:p.Leu421= NM_003036.3:c.1263C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 04, 2015 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-02-04 1 0 -1 2235331 G A 2235331 2235331 + Variant 213707 RCV000196970 SCV000250693 209470 SKI NM_003036.3:c.1264G>A NP_003027.1:p.Ala422Thr NM_003036.3:c.1264G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 20, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-10-20 1 0 +1 2235331 G A 2235331 2235331 + Variant 213707 RCV000196970 SCV000250693 209470 SKI NM_003036.3:c.1264G>A NP_003027.1:p.Ala422Thr NM_003036.3:c.1264G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-11 1 0 1 2235336 G A 2235336 2235336 + Variant 387432 RCV000431107 SCV000529477 364724 SKI NM_003036.3:c.1269G>A NP_003027.1:p.Pro423= NM_003036.3:c.1269G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 12, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-12 1 0 -1 2235338 C T 2235338 2235338 + Variant 423663 RCV000486959 SCV000573384 405082 SKI NM_003036.3:c.1271C>T NP_003027.1:p.Pro424Leu NM_003036.3:c.1271C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 23, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-23 1 0 +1 2235338 C T 2235338 2235338 + Variant 423663 RCV000486959;RCV000537023 SCV000573384;SCV000637278 405082 SKI NM_003036.3:c.1271C>T NP_003027.1:p.Pro424Leu NM_003036.3:c.1271C>T:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 13, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-02-23;2017-03-13 2 0 +1 2235361 A G 2235361 2235361 + Variant 449989 RCV000521311 SCV000618510 442736 SKI NM_003036.3:c.1294A>G NP_003027.1:p.Ser432Gly NM_003036.3:c.1294A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-01 1 0 1 2235368 C T 2235368 2235368 + Variant 213694 RCV000200090 SCV000250680 209471 SKI NM_003036.3:c.1301C>T NP_003027.1:p.Pro434Leu NM_003036.3:c.1301C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 09, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-03-09 1 0 -1 2235376 G A 2235376 2235376 + Variant 263895 RCV000251995;RCV000474123 SCV000319389;SCV000550377 257946 SKI NM_003036.3:c.1309G>A NP_003027.1:p.Ala437Thr NM_003036.3:c.1309G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 11, 2016 Ambry Genetics;Invitae, Ambry Genetics;Invitae, Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections;Shprintzen-Goldberg syndrome 20301299;24882528;25173340;20301454 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-10-29;2016-12-11 2 0 -1 2235378 C G 2235378 2235378 + Variant 227946 RCV000221218;RCV000462719 SCV000514630;SCV000270846;SCV000560932 228357 SKI NM_003036.3:c.1311C>G NP_003027.1:p.Ala437= NM_003036.3:c.1311C>G:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 09, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Shprintzen-Goldberg syndrome 24033266;20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-08-11;2016-09-21;2016-10-09 2 0 -1 2235378 C T 2235378 2235378 + Variant 139114 RCV000128048;RCV000229389;RCV000249261 SCV000309353;SCV000605110;SCV000171639;SCV000336133;SCV000287833;SCV000319411 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign benign 0 0 0 0 6 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 10, 2017 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae,;Ambry Genetics GeneDx;PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae,;Ambry Genetics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 25741868;20301454;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-27;0000-00-00;2015-10-14;2016-01-06;2017-01-10;2015-02-06 2 0 -1 2235382 G A 2235382 2235382 + Variant 409971 RCV000457275 SCV000550375 391083 SKI NM_003036.3:c.1315G>A NP_003027.1:p.Val439Ile NM_003036.3:c.1315G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 08, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-08 1 0 +1 2235376 G A 2235376 2235376 + Variant 263895 RCV000251995;RCV000474123;RCV000520591 SCV000319389;SCV000550377;SCV000620001 257946 SKI NM_003036.3:c.1309G>A NP_003027.1:p.Ala437Thr NM_003036.3:c.1309G>A:missense variant Uncertain significance uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 11, 2017 Ambry Genetics;Invitae;GeneDx Ambry Genetics;Invitae;GeneDx Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections;Shprintzen-Goldberg syndrome;not specified 20301299;24882528;25173340;20301454;28492532 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN169374 2015-10-29;2017-02-17;2017-08-11 2 0 +1 2235378 C G 2235378 2235378 + Variant 227946 RCV000221218;RCV000462719 SCV000514630;SCV000270846;SCV000560932 228357 SKI NM_003036.3:c.1311C>G NP_003027.1:p.Ala437= NM_003036.3:c.1311C>G:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 15, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Shprintzen-Goldberg syndrome 24033266;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-08-11;2017-08-15;2017-05-30 2 0 +1 2235378 C T 2235378 2235378 + Variant 139114 RCV000128048;RCV000229389;RCV000249261 SCV000309353;SCV000605110;SCV000171639;SCV000336133;SCV000287833;SCV000319411 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign benign 0 0 0 0 6 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 26, 2017 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae;Ambry Genetics GeneDx;PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae;Ambry Genetics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 25741868;20301454;28492532;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-27;0000-00-00;2015-10-14;2016-01-06;2017-07-26;2015-02-06 2 0 +1 2235382 G A 2235382 2235382 + Variant 409971 RCV000457275 SCV000550375 391083 SKI NM_003036.3:c.1315G>A NP_003027.1:p.Val439Ile NM_003036.3:c.1315G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 08, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-08 1 0 1 2235396 C T 2235396 2235396 + Variant 385791 RCV000429448 SCV000527181 364938 SKI NM_003036.3:c.1329C>T NP_003027.1:p.Pro443= NM_003036.3:c.1329C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 29, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-04-29 1 0 1 2235405 C T 2235405 2235405 + Variant 213672 RCV000195511 SCV000250655 209472 SKI NM_003036.3:c.1338C>T NP_003027.1:p.Leu446= NM_003036.3:c.1338C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 18, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-06-18 1 0 -1 2235451 C G 2235451 2235451 + Variant 409974 RCV000467693 SCV000550379 390989 SKI NM_003036.3:c.1384C>G NP_003027.1:p.Pro462Ala NM_003036.3:c.1384C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 01, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-04-01 1 0 -1 2235477 C T 2235477 2235477 + Variant 213673 RCV000197717;RCV000458443 SCV000250656;SCV000560937 209473 SKI NM_003036.3:c.1410C>T NP_003027.1:p.Pro470= NM_003036.3:c.1410C>T:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 13, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-06-22;2016-11-13 2 0 +1 2235451 C G 2235451 2235451 + Variant 409974 RCV000467693 SCV000550379 390989 SKI NM_003036.3:c.1384C>G NP_003027.1:p.Pro462Ala NM_003036.3:c.1384C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 14, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-14 1 0 +1 2235477 C T 2235477 2235477 + Variant 213673 RCV000197717;RCV000458443 SCV000250656;SCV000560937 209473 SKI NM_003036.3:c.1410C>T NP_003027.1:p.Pro470= NM_003036.3:c.1410C>T:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 31, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-06-22;2017-07-31 2 0 1 2235487 C G 2235487 2235487 + Variant 373583 RCV000413715 SCV000492188 359238 SKI NM_003036.3:c.1420C>G NP_003027.1:p.Pro474Ala NM_003036.3:c.1420C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 06, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-06 1 0 -1 2235513 G A 2235513 2235513 + Variant 139115 RCV000178187;RCV000233299;RCV000249175 SCV000171640;SCV000605115;SCV000309354;SCV000230202;SCV000287834;SCV000319431 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 5 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 25, 2017 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae,;Ambry Genetics GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae,;Ambry Genetics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 25741868;20301454;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-29;2015-01-13;0000-00-00;2016-01-08;2017-01-25;2015-02-16 2 0 -1 2235523 G A 2235523 2235523 + Variant 229252 RCV000218491 SCV000272435 228358 SKI NM_003036.3:c.1456G>A NP_003027.1:p.Val486Ile NM_003036.3:c.1456G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-08-11 1 0 -1 2235737 T A 2235737 2235737 + Variant 373745 RCV000414146;RCV000460773 SCV000492366;SCV000550381 359326 SKI NM_003036.3:c.1480T>A NP_003027.1:p.Ser494Thr NM_003036.3:c.1480T>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 12, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-12;2016-08-18 2 0 -1 2235762 C T 2235762 2235762 + Variant 377202 RCV000442707 SCV000511479 364080 SKI NM_003036.3:c.1505C>T NP_003027.1:p.Pro502Leu NM_003036.3:c.1505C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 21, 2016 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-11-21-06:00 1 0 -1 2235784 C T 2235784 2235784 + Variant 213674 RCV000199331;RCV000245139 SCV000605117;SCV000250657;SCV000269828;SCV000319439 209474 SKI NM_003036.3:c.1527C>T NP_003027.1:p.Ser509= NM_003036.3:c.1527C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 19, 2016 ARUP Laboratories, Molecular Genetics and Genomics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Ambry Genetics GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;ARUP Laboratories, Molecular Genetics and Genomics;Ambry Genetics not specified;Not specified;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 24033266;20301299;24882528;25173340 germline MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-09-11;2015-02-20;2016-12-19;2015-02-24 2 0 +1 2235488 C T 2235488 2235488 + Variant 451213 RCV000521240 SCV000619881 442737 SKI NM_003036.3:c.1421C>T NP_003027.1:p.Pro474Leu NM_003036.3:c.1421C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 08, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-08 1 0 +1 2235512 C T 2235512 2235512 + Variant 451641 RCV000519637 SCV000620364 442738 SKI NM_003036.3:c.1445C>T NP_003027.1:p.Ala482Val NM_003036.3:c.1445C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 29, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-29 1 0 +1 2235512 CG C 2235514 2235514 + Variant 450070 RCV000520789 SCV000618607 442739 SKI NM_003036.3:c.1447delG NP_003027.1:p.Glu483Argfs NM_003036.3:c.1447delG:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 27, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-27 1 0 +1 2235513 G A 2235513 2235513 + Variant 139115 RCV000178187;RCV000233299;RCV000249175 SCV000171640;SCV000605115;SCV000309354;SCV000230202;SCV000287834;SCV000319431 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Benign benign 0 0 0 0 6 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 03, 2017 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae;Ambry Genetics GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae;Ambry Genetics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 25741868;20301454;28492532;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-29;2015-01-13;0000-00-00;2016-01-08;2017-08-03;2016-12-15 2 0 +1 2235523 G A 2235523 2235523 + Variant 229252 RCV000218491;RCV000535528 SCV000272435;SCV000637281 228358 SKI NM_003036.3:c.1456G>A NP_003027.1:p.Val486Ile NM_003036.3:c.1456G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 18, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Shprintzen-Goldberg syndrome 24033266;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-08-11;2017-04-18 2 0 +1 2235737 T A 2235737 2235737 + Variant 373745 RCV000414146;RCV000460773 SCV000492366;SCV000550381 359326 SKI NM_003036.3:c.1480T>A NP_003027.1:p.Ser494Thr NM_003036.3:c.1480T>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 12, 2016 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-12;2016-08-18 2 0 +1 2235762 C T 2235762 2235762 + Variant 377202 RCV000442707 SCV000511479 364080 SKI NM_003036.3:c.1505C>T NP_003027.1:p.Pro502Leu NM_003036.3:c.1505C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 21, 2016 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2016-11-21 1 0 +1 2235784 C T 2235784 2235784 + Variant 213674 RCV000199331;RCV000245139;RCV000550404 SCV000605117;SCV000250657;SCV000269828;SCV000319439;SCV000637282 209474 SKI NM_003036.3:c.1527C>T NP_003027.1:p.Ser509= NM_003036.3:c.1527C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 03, 2017 ARUP Laboratories, Molecular Genetics and Genomics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Ambry Genetics;Invitae GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;ARUP Laboratories, Molecular Genetics and Genomics;Ambry Genetics;Invitae not specified;Not specified;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections;Shprintzen-Goldberg syndrome 24033266;19112531;20301299;24882528;25173340;20301454;28492532 germline MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-09-11;2015-02-20;2016-12-19;2015-02-24;2017-04-03 2 0 1 2235785 G A 2235785 2235785 + Variant 213695 RCV000195482 SCV000250681 209475 SKI NM_003036.3:c.1528G>A NP_003027.1:p.Ala510Thr NM_003036.3:c.1528G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 26, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-03-26 1 0 +1 2235805 G A 2235805 2235805 + Variant 463396 RCV000528551 SCV000637283 447788 SKI NM_003036.3:c.1548G>A NP_003027.1:p.Pro516= NM_003036.3:c.1548G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 26, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-26 1 0 1 2235812 C T 2235812 2235812 + Variant 213696 RCV000197672 SCV000250682 209476 SKI NM_003036.3:c.1555C>T NP_003027.1:p.Arg519Cys NM_003036.3:c.1555C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 11, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-09-11 1 0 1 2235813 G A 2235813 2235813 + Variant 213675 RCV000196080 SCV000250658 209477 SKI NM_003036.3:c.1556G>A NP_003027.1:p.Arg519His NM_003036.3:c.1556G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 04, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-12-04 1 0 -1 2235825 C T 2235825 2235825 + Variant 180522 RCV000157499 SCV000207244 178441 SKI NM_003036.3:c.1568C>T NP_003027.1:p.Ser523Leu NM_003036.3:c.1568C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided Oct 06, 2014 Blueprint Genetics Blueprint Genetics Arterial dissection;Arterial dissection germline Human Phenotype Ontology:HP:0005294;MedGen:C0002949;MedGen:CN004695 2014-10-06 0 0 +1 2235825 C T 2235825 2235825 + Variant 180522 RCV000157499;RCV000538872 SCV000207244;SCV000637284 178441 SKI NM_003036.3:c.1568C>T NP_003027.1:p.Ser523Leu NM_003036.3:c.1568C>T:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Jun 07, 2017 Blueprint Genetics;Invitae Blueprint Genetics;Invitae Arterial dissection;Shprintzen-Goldberg syndrome 20301454;28492532 germline Human Phenotype Ontology:HP:0005294;MedGen:C0002949;MedGen:CN004695;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-10-06;2017-06-07 1 1 1 2235830 G A 2235830 2235830 + Variant 213676 RCV000197599 SCV000250659 209478 SKI NM_003036.3:c.1573G>A NP_003027.1:p.Val525Ile NM_003036.3:c.1573G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 17, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-07-17 1 0 1 2235837 ATGC A 2235841 2235843 + Variant 213704 RCV000197075 SCV000250690 209479 SKI NM_003036.3:c.1584_1586delTGC NP_003027.1:p.Ala530del NM_003036.3:c.1584_1586delTGC:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 05, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-05-05 1 0 -1 2235850 T C 2235850 2235850 + Variant 213677 RCV000199803;RCV000466338 SCV000309355;SCV000250660;SCV000560935 209480 SKI NM_003036.3:c.1593T>C NP_003027.1:p.Pro531= NM_003036.3:c.1593T>C:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 08, 2016 PreventionGenetics;GeneDx;Invitae, GeneDx;PreventionGenetics;Invitae, not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-07-01;0000-00-00;2016-12-08 2 0 -1 2235876 C T 2235876 2235876 + Variant 213697 RCV000199881 SCV000250683 209481 SKI NM_003036.3:c.1619C>T NP_003027.1:p.Ala540Val NM_003036.3:c.1619C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 22, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-22 1 0 -1 2235877 G A 2235877 2235877 + Variant 415898 RCV000456827 SCV000560934 390993 SKI NM_003036.3:c.1620G>A NP_003027.1:p.Ala540= NM_003036.3:c.1620G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-26 1 0 +1 2235850 T C 2235850 2235850 + Variant 213677 RCV000199803;RCV000466338 SCV000309355;SCV000250660;SCV000560935 209480 SKI NM_003036.3:c.1593T>C NP_003027.1:p.Pro531= NM_003036.3:c.1593T>C:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 25, 2017 PreventionGenetics;GeneDx;Invitae GeneDx;PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-07-01;0000-00-00;2017-07-25 2 0 +1 2235876 C T 2235876 2235876 + Variant 213697 RCV000199881;RCV000548962 SCV000250683;SCV000637285 209481 SKI NM_003036.3:c.1619C>T NP_003027.1:p.Ala540Val NM_003036.3:c.1619C>T:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 06, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-22;2017-04-06 2 0 +1 2235877 G A 2235877 2235877 + Variant 415898 RCV000456827 SCV000560934 390993 SKI NM_003036.3:c.1620G>A NP_003027.1:p.Ala540= NM_003036.3:c.1620G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-26 1 0 1 2235889 C T 2235889 2235889 + Variant 213678 RCV000196639 SCV000250661 209482 SKI NM_003036.3:c.1632C>T NP_003027.1:p.His544= NM_003036.3:c.1632C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 31, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-07-31 1 0 1 2235957 T C 2235957 2235957 + Variant 426770 RCV000489520 SCV000577301 414774 SKI NM_003036.3:c.1700T>C NP_003027.1:p.Val567Ala NM_003036.3:c.1700T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 05, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-05 1 0 -1 2235991 C T 2235991 2235991 + Variant 415897 RCV000472195 SCV000560933 391073 SKI NM_003036.3:c.1734C>T NP_003027.1:p.Ser578= NM_003036.3:c.1734C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter May 15, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-15 1 0 +1 2235991 C T 2235991 2235991 + Variant 415897 RCV000472195 SCV000560933 391073 SKI NM_003036.3:c.1734C>T NP_003027.1:p.Ser578= NM_003036.3:c.1734C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter May 15, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-15 1 0 1 2235996 C T 2235996 2235996 + Variant 432018 RCV000498763 SCV000589685 425342 SKI NM_003036.3:c.1739C>T NP_003027.1:p.Ala580Val NM_003036.3:c.1739C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 16, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-16 1 0 -1 2236030 C T 2236030 2236030 + Variant 239476 RCV000227068 SCV000287835 238217 SKI NM_003036.3:c.1767+6C>T NM_003036.3:c.1767+6C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 21, 2015 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-21 1 0 +1 2236030 C T 2236030 2236030 + Variant 239476 RCV000227068 SCV000287835 238217 SKI NM_003036.3:c.1767+6C>T NM_003036.3:c.1767+6C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 21, 2015 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-21 1 0 1 2237477 G T 2237477 2237477 + Variant 393207 RCV000442849 SCV000536583 364914 SKI NM_003036.3:c.1786G>T NP_003027.1:p.Val596Leu NM_003036.3:c.1786G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 03, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-03 1 0 -1 2237525 C T 2237525 2237525 + Variant 139116 RCV000179418;RCV000230962;RCV000243796 SCV000171641;SCV000309356;SCV000269829;SCV000231664;SCV000287836;SCV000319390 142819 SKI NM_003036.3:c.1834C>T NP_003027.1:p.Leu612= NM_003036.3:c.1834C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 5 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 15, 2017 PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae,;Ambry Genetics GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics;Invitae,;Ambry Genetics not specified;Not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 24033266;25741868;20301454;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-29;2015-06-08;2015-02-20;0000-00-00;2017-01-15;2015-03-04 2 0 -1 2237542 G A 2237542 2237542 + Variant 198156 RCV000179419;RCV000473994 SCV000231665;SCV000560922 195317 SKI NM_003036.3:c.1851G>A NP_003027.1:p.Glu617= NM_003036.3:c.1851G>A:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 08, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-04-02;2016-10-08 2 0 -1 2237551 C T 2237551 2237551 + Variant 415894 RCV000468377 SCV000560927 390971 SKI NM_003036.3:c.1860C>T NP_003027.1:p.Arg620= NM_003036.3:c.1860C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 24, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-24 1 0 +1 2237525 C T 2237525 2237525 + Variant 139116 RCV000179418;RCV000230962;RCV000243796 SCV000171641;SCV000309356;SCV000269829;SCV000231664;SCV000287836;SCV000319390 142819 SKI NM_003036.3:c.1834C>T NP_003027.1:p.Leu612= NM_003036.3:c.1834C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 5 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 05, 2017 PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae;Ambry Genetics GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics;Invitae;Ambry Genetics not specified;Not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 24033266;25741868;20301454;28492532;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-29;2015-06-08;2015-02-20;0000-00-00;2017-05-05;2015-03-04 2 0 +1 2237539 C A 2237539 2237539 + Variant 463398 RCV000541947 SCV000637287 447852 SKI NM_003036.3:c.1848C>A NP_003027.1:p.Ile616= NM_003036.3:c.1848C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 15, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-15 1 0 +1 2237539 C G 2237539 2237539 + Variant 463399 RCV000552281 SCV000637288 447789 SKI NM_003036.3:c.1848C>G NP_003027.1:p.Ile616Met NM_003036.3:c.1848C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 02, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-02 1 0 +1 2237542 G A 2237542 2237542 + Variant 198156 RCV000179419;RCV000473994 SCV000231665;SCV000560922 195317 SKI NM_003036.3:c.1851G>A NP_003027.1:p.Glu617= NM_003036.3:c.1851G>A:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 16, 2017 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-04-02;2017-05-16 2 0 +1 2237551 C T 2237551 2237551 + Variant 415894 RCV000468377 SCV000560927 390971 SKI NM_003036.3:c.1860C>T NP_003027.1:p.Arg620= NM_003036.3:c.1860C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 24, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-24 1 0 1 2237554 C T 2237554 2237554 + Variant 384451 RCV000430401 SCV000525272 364920 SKI NM_003036.3:c.1863C>T NP_003027.1:p.Ala621= NM_003036.3:c.1863C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-01 1 0 1 2237561 GAGA G 2237568 2237570 + Variant 213705 RCV000198612 SCV000250691 209485 SKI NM_003036.3:c.1877_1879delAGA NP_003027.1:p.Lys626del NM_003036.3:c.1877_1879delAGA:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 06, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-05-06 1 0 1 2237568 A T 2237568 2237568 + Variant 213698 RCV000196715 SCV000250684 209484 SKI NM_003036.3:c.1877A>T NP_003027.1:p.Lys626Met NM_003036.3:c.1877A>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-04-21 1 0 -1 2237578 G A 2237578 2237578 + Variant 415893 RCV000476076 SCV000560925 391086 SKI NM_003036.3:c.1887G>A NP_003027.1:p.Glu629= NM_003036.3:c.1887G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 09, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-09 1 0 -1 2237581 C T 2237581 2237581 + Variant 198155 RCV000246302 SCV000231662;SCV000309358 195316 SKI NM_003036.3:c.1890C>T NP_003027.1:p.Ala630= NM_003036.3:c.1890C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Nov 12, 2014 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-11-12;0000-00-00 1 1 +1 2237578 G A 2237578 2237578 + Variant 415893 RCV000476076 SCV000560925 391086 SKI NM_003036.3:c.1887G>A NP_003027.1:p.Glu629= NM_003036.3:c.1887G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 09, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-09 1 0 +1 2237581 C T 2237581 2237581 + Variant 198155 RCV000246302;RCV000525874 SCV000231662;SCV000309358;SCV000637289 195316 SKI NM_003036.3:c.1890C>T NP_003027.1:p.Ala630= NM_003036.3:c.1890C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 2 0 criteria provided, conflicting interpretations criteria provided, single submitter May 25, 2017 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-11-12;0000-00-00;2017-05-25 1 1 1 2237623 G A 2237623 2237623 + Variant 383505 RCV000419527 SCV000523917 364733 SKI NM_003036.3:c.1932G>A NP_003027.1:p.Ala644= NM_003036.3:c.1932G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 09, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-02-09 1 0 -1 2237662 C T 2237662 2237662 + Variant 239477 RCV000233767 SCV000287837 238218 SKI NM_003036.3:c.1971C>T NP_003027.1:p.Gly657= NM_003036.3:c.1971C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 25, 2015 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-25 1 0 -1 2237665 C T 2237665 2237665 + Variant 139117 RCV000179417;RCV000227524 SCV000231663;SCV000309359;SCV000171642;SCV000287838 142820 SKI NM_003036.3:c.1974C>T NP_003027.1:p.Arg658= NM_003036.3:c.1974C>T:synonymous variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 18, 2017 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae, GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Invitae, not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-06-05;2014-10-07;0000-00-00;2017-01-18 2 0 -1 2237674 C T 2237674 2237674 + Variant 415895 RCV000475416 SCV000560928 390995 SKI NM_003036.3:c.1983C>T NP_003027.1:p.Ala661= NM_003036.3:c.1983C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 08, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 1 0 +1 2237626 G T 2237626 2237626 + Variant 463400 RCV000540734 SCV000637290 447792 SKI NM_003036.3:c.1935G>T NP_003027.1:p.Arg645= NM_003036.3:c.1935G>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 21, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-21 1 0 +1 2237633 C G 2237633 2237633 + Variant 463401 RCV000555329 SCV000637291 447532 SKI NM_003036.3:c.1942C>G NP_003027.1:p.Arg648Gly NM_003036.3:c.1942C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 29, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-29 1 0 +1 2237658 C T 2237658 2237658 + Variant 463402 RCV000531234 SCV000637292 447682 SKI NM_003036.3:c.1967C>T NP_003027.1:p.Ala656Val NM_003036.3:c.1967C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 30, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-30 1 0 +1 2237662 C T 2237662 2237662 + Variant 239477 RCV000233767 SCV000287837 238218 SKI NM_003036.3:c.1971C>T NP_003027.1:p.Gly657= NM_003036.3:c.1971C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 25, 2015 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-25 1 0 +1 2237665 C T 2237665 2237665 + Variant 139117 RCV000179417;RCV000227524 SCV000231663;SCV000309359;SCV000171642;SCV000287838 142820 SKI NM_003036.3:c.1974C>T NP_003027.1:p.Arg658= NM_003036.3:c.1974C>T:synonymous variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 13, 2017 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-06-05;2014-10-07;0000-00-00;2017-05-13 2 0 +1 2237667 T G 2237667 2237667 + Variant 449665 RCV000520058 SCV000617994 442740 SKI NM_003036.3:c.1976T>G NP_003027.1:p.Leu659Arg NM_003036.3:c.1976T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 30, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-30 1 0 +1 2237674 C T 2237674 2237674 + Variant 415895 RCV000475416 SCV000560928 390995 SKI NM_003036.3:c.1983C>T NP_003027.1:p.Ala661= NM_003036.3:c.1983C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 08, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 1 0 1 2238000 C T 2238000 2238000 + Variant 388616 RCV000444316 SCV000530961 364745 SKI NM_003036.3:c.1999-16C>T NM_003036.3:c.1999-16C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 12, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-08-12 1 0 -1 2238024 C G 2238024 2238024 + Variant 213699 RCV000198240;RCV000230294;RCV000243311 SCV000250685;SCV000287839;SCV000320452 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 22, 2017 GeneDx;Invitae,;Ambry Genetics GeneDx;Invitae,;Ambry Genetics not specified;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301454;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2017-03-22;2017-01-25;2015-10-13 2 0 +1 2238007 C G 2238007 2238007 + Variant 463403 RCV000546111 SCV000637293 447533 SKI NM_003036.3:c.1999-9C>G NM_003036.3:c.1999-9C>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 16, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-16 1 0 +1 2238024 C G 2238024 2238024 + Variant 213699 RCV000198240;RCV000230294;RCV000243311 SCV000250685;SCV000287839;SCV000320452 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 28, 2017 GeneDx;Invitae;Ambry Genetics GeneDx;Invitae;Ambry Genetics not specified;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301454;28492532;20301299;24882528;25173340;25519456 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2017-03-22;2017-06-28;2015-10-13 2 0 1 2238024 C T 2238024 2238024 + Variant 432935 RCV000498915 SCV000590713 425343 SKI NM_003036.3:c.2007C>T NP_003027.1:p.Asp669= NM_003036.3:c.2007C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 26, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-26 1 0 -1 2238026 T G 2238026 2238026 + Variant 409975 RCV000473086 SCV000550380 390973 SKI NM_003036.3:c.2009T>G NP_003027.1:p.Leu670Arg NM_003036.3:c.2009T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 08, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 1 0 -1 2238030 G A 2238030 2238030 + Variant 415892 RCV000460660 SCV000560923 391089 SKI NM_003036.3:c.2013G>A NP_003027.1:p.Gln671= NM_003036.3:c.2013G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 22, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-07-22 1 0 +1 2238026 T G 2238026 2238026 + Variant 409975 RCV000473086 SCV000550380 390973 SKI NM_003036.3:c.2009T>G NP_003027.1:p.Leu670Arg NM_003036.3:c.2009T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 08, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 1 0 +1 2238030 G A 2238030 2238030 + Variant 415892 RCV000460660 SCV000560923 391089 SKI NM_003036.3:c.2013G>A NP_003027.1:p.Gln671= NM_003036.3:c.2013G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 22, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-07-22 1 0 +1 2238045 C G 2238045 2238045 + Variant 463404 RCV000556095 SCV000637294 447795 SKI NM_003036.3:c.2028C>G NP_003027.1:p.His676Gln NM_003036.3:c.2028C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 05, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-05 1 0 +1 2238069 G T 2238069 2238069 + Variant 463405 RCV000530007 SCV000637295 447796 SKI NM_003036.3:c.2052G>T NP_003027.1:p.Leu684= NM_003036.3:c.2052G>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 13, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-02-13 1 0 1 2238073 G A 2238073 2238073 + Variant 213709 RCV000195941 SCV000250695 209487 SKI NM_003036.3:c.2056G>A NP_003027.1:p.Ala686Thr NM_003036.3:c.2056G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 01, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-12-01 1 0 +1 2238078 C A 2238078 2238078 + Variant 463406 RCV000544643 SCV000637296 447853 SKI NM_003036.3:c.2061C>A NP_003027.1:p.Asp687Glu NM_003036.3:c.2061C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-01 1 0 1 2238081 G C 2238081 2238081 + Variant 386021 RCV000425793 SCV000527527 364756 SKI NM_003036.3:c.2064G>C NP_003027.1:p.Leu688= NM_003036.3:c.2064G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 05, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-05 1 0 1 2238145 T C 2238145 2238145 + Variant 213710 RCV000196830 SCV000250696 209488 SKI NM_003036.3:c.2128T>C NP_003027.1:p.Trp710Arg NM_003036.3:c.2128T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 20, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-01-20 1 0 +1 2238157 C T 2238157 2238157 + Variant 451473 RCV000522009 SCV000620179 442741 SKI NM_003036.3:c.2140C>T NP_003027.1:p.Arg714Cys NM_003036.3:c.2140C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 16, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-16 1 0 1 2238158 G A 2238158 2238158 + Variant 213679 RCV000197481 SCV000250662 209489 SKI NM_003036.3:c.2141G>A NP_003027.1:p.Arg714His NM_003036.3:c.2141G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 23, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-07-23 1 0 1 2238170 C G 2238170 2238170 + Variant 213680 RCV000199684 SCV000250663 209490 SKI NM_003036.3:c.2153C>G NP_003027.1:p.Ala718Gly NM_003036.3:c.2153C>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-08-11 1 0 +1 2238182 G T 2238182 2238182 + Variant 463407 RCV000559446 SCV000637297 447797 SKI NM_003036.3:c.2165G>T NP_003027.1:p.Gly722Val NM_003036.3:c.2165G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 06, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-06 1 0 1 2238188 C T 2238188 2238188 + Variant 440269 RCV000507977 SCV000605114 433915 SKI NM_003036.3:c.2171C>T NP_003027.1:p.Ala724Val NM_003036.3:c.2171C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 04, 2016 ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories, Molecular Genetics and Genomics not specified germline MedGen:CN169374 2016-10-04 1 0 -1 2238191 A C 2238191 2238191 + Variant 213700 RCV000199766 SCV000250686 209491 SKI NM_003036.3:c.2174A>C NP_003027.1:p.Glu725Ala NM_003036.3:c.2174A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 27, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-04-27 1 0 +1 2238191 A C 2238191 2238191 + Variant 213700 RCV000199766;RCV000537625 SCV000250686;SCV000637298 209491 SKI NM_003036.3:c.2174A>C NP_003027.1:p.Glu725Ala NM_003036.3:c.2174A>C:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 31, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-10-31;2017-06-14 2 0 1 2238200 C T 2238200 2238200 + Variant 213701 RCV000196525 SCV000250687 209492 SKI NM_003036.3:c.2183C>T NP_003027.1:p.Pro728Leu NM_003036.3:c.2183C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 08, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-03-08 1 0 -1 2238201 G C 2238201 2238201 + Variant 386048 RCV000429161;RCV000474716 SCV000527559;SCV000560936 364924 SKI NM_003036.3:c.2184G>C NP_003027.1:p.Pro728= NM_003036.3:c.2184G>C:synonymous variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 29, 2017 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-29;2016-10-01 2 0 +1 2238201 G C 2238201 2238201 + Variant 386048 RCV000429161;RCV000474716 SCV000527559;SCV000560936 364924 SKI NM_003036.3:c.2184G>C NP_003027.1:p.Pro728= NM_003036.3:c.2184G>C:synonymous variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 29, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-29;2016-10-01 2 0 1 2238204 GATT G 2238205 2238207 + Variant 222822 RCV000208246 SCV000264227 224193 SKI NM_003036.3:c.*1_*3delATT NM_003036.3:c.*1_*3delATT:3 prime UTR variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2015 Blueprint Genetics Blueprint Genetics Marfanoid habitus germline MedGen:C1839796 2015-06-01 1 0 1 2238221 C T 2238221 2238221 + Variant 383970 RCV000425474 SCV000524596 364926 SKI NM_003036.3:c.*17C>T Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 07, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-07 1 0 1 2336351 C T 2336351 2336351 - Variant 296252 RCV000386642 SCV000355579 281775 PEX10 NM_153818.1:c.*854G>A NM_153818.1:c.*854G>A:3 prime UTR variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 @@ -405,31 +553,33 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 2337997 G A 2337997 2337997 - Variant 286808 RCV000407787 SCV000340373 271045 PEX10 NM_153818.1:c.898C>T NP_722540.1:p.Arg300Cys NM_153818.1:c.898C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 22, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-03-22 1 0 1 2338000 C A 2338000 2338000 - Variant 282334 RCV000289565 SCV000333750 266571 PEX10 NM_153818.1:c.895G>T NP_722540.1:p.Glu299Ter NM_153818.1:c.895G>T:nonsense Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Aug 12, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Peroxisome biogenesis disorder 6A germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 2015-08-12 1 0 1 2338005 A G 2338005 2338005 - Variant 162432 RCV000149810 SCV000196634 172123 PEX10 NM_153818.1:c.890T>C NP_722540.1:p.Leu297Pro NM_153818.1:c.890T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 12, 2015 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 19127411;6 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2009-02-01 0 0 -1 2338015 T C 2338015 2338015 - Variant 197887 RCV000179027 SCV000231216;SCV000540015;SCV000316395 195048 PEX10 NM_153818.1:c.880A>G NP_722540.1:p.Thr294Ala NM_153818.1:c.880A>G:missense variant Benign/Likely benign benign;benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Mar 29, 2016 PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified;NOT SPECIFIED;not specified 24033266;25741868 germline MedGen:CN169374 2014-11-23;0000-00-00;2016-03-29 2 0 +1 2338015 T C 2338015 2338015 - Variant 197887 RCV000179027;RCV000538777 SCV000231216;SCV000540015;SCV000316395;SCV000644952 195048 PEX10 NM_153818.1:c.880A>G NP_722540.1:p.Thr294Ala NM_153818.1:c.880A>G:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 09, 2017 PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;NOT SPECIFIED;Peroxisome biogenesis disorder, complementation group 7 24033266;25741868;28492532 germline MedGen:CN169374;MedGen:C1864399;OMIM:614870 2014-11-23;0000-00-00;2016-03-29;2017-06-09 2 0 1 2338019 C A 2338019 2338019 - Variant 289743 RCV000264178 SCV000344149 273980 PEX10 NM_153818.1:c.876G>T NP_722540.1:p.Leu292= NM_153818.1:c.876G>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 27, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-27 1 0 1 2338019 CAG C 2338020 2338021 - Variant 296273 RCV000337969;RCV000409050;RCV000411962 SCV000355604;SCV000487552;SCV000487551 281791 PEX10 NM_153818.1:c.874_875delCT NP_722540.1:p.Leu292Valfs NM_153818.1:c.874_875delCT:frameshift variant Pathogenic pathogenic 3 0 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 16, 2016 Illumina Clinical Services Laboratory,Illumina;Counsyl Illumina Clinical Services Laboratory,Illumina;Counsyl Zellweger syndrome;Zellweger Syndrome;Peroxisome biogenesis disorder 6B;Peroxisome biogenesis disorder 6A 10862081;12794690;19142205;20301621;21031596;22871920;27230853;9700193 germline;unknown GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006;MedGen:C3553948;OMIM:614871;Orphanet:44;Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870 2016-06-14;2016-08-16 2 0 1 2338023 G A 2338023 2338023 - Variant 289191 RCV000281616 SCV000343505 273428 PEX10 NM_153818.1:c.872C>T NP_722540.1:p.Pro291Leu NM_153818.1:c.872C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 30, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-06-30 1 0 1 2338024 G T 2338024 2338024 - Variant 286993 RCV000388149 SCV000340616 271230 PEX10 NM_153818.1:c.871C>A NP_722540.1:p.Pro291Thr NM_153818.1:c.871C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 05, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-04-05 1 0 1 2338151 G A 2338151 2338151 - Variant 296274 RCV000400274 SCV000355605 280483 PEX10 NM_153818.1:c.836+8C>T NM_153818.1:c.836+8C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 -1 2338158 C G 2338158 2338158 - Variant 225040 RCV000210672 SCV000262930 226879 PEX10 NM_153818.1:c.836+1G>C NM_153818.1:c.836+1G>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter - Ambry Genetics Ambry Genetics Inborn genetic diseases;MR/ID/DD;Allergy/Immunologic/Infectious (child onset);Hematologic (child onset);Renal (child onset) 22947299;23037933;23169492;23619275;23652378;23881473;24022298;24121147;24394680;25356970;25560141;25626707;25730230 germline MeSH:D030342;MedGen:C0950123 0000-00-00 1 0 +1 2338158 C G 2338158 2338158 - Variant 225040 RCV000210672 SCV000262930 226879 PEX10 NM_153818.1:c.836+1G>C NM_153818.1:c.836+1G>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Aug 30, 2012 Ambry Genetics Ambry Genetics Inborn genetic diseases;Inborn genetic diseases 22947299;23037933;23169492;23619275;23652378;23881473;24022298;24121147;24394680;25560141;25626707;25730230 germline MeSH:D030342;MedGen:C0950123 2012-08-30 1 0 1 2338162 C T 2338162 2338162 - Variant 290110 RCV000268088 SCV000344607 274347 PEX10 NM_153818.1:c.833G>A NP_722540.1:p.Arg278His NM_153818.1:c.833G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 31, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-31 1 0 1 2338175 C T 2338175 2338175 - Variant 296275 RCV000297739 SCV000355606 281804 PEX10 NM_153818.1:c.820G>A NP_722540.1:p.Gly274Ser NM_153818.1:c.820G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 1 2338205 G A 2338205 2338205 - Variant 162435 RCV000149813 SCV000196637 172126 PEX10 NM_153818.1:c.790C>T NP_722540.1:p.Arg264Ter NM_153818.1:c.790C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 12, 2015 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 20695019 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2010-08-01 0 0 1 2338223 C G 2338223 2338223 - Variant 197385 RCV000178398 SCV000230471 194546 PEX10 NM_153818.1:c.772G>C NP_722540.1:p.Gly258Arg NM_153818.1:c.772G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 04, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-02-04 1 0 1 2338224 G A 2338224 2338224 - Variant 296276 RCV000354897 SCV000355607 280485 PEX10 NM_153818.1:c.771C>T NP_722540.1:p.Tyr257= NM_153818.1:c.771C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 -1 2338230 C CT 2338231 2338231 - Variant 6774 RCV000007176;RCV000149808;RCV000324305 SCV000027372;SCV000487553;SCV000487554;SCV000196632;SCV000329456 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic pathogenic 5 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jul 22, 2016 OMIM;Counsyl;GeneDx OMIM;Counsyl;GeneDx Peroxisome biogenesis disorder 6A;PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER);Peroxisome biogenesis disorder 6B;not provided;Not Provided 10862081;15542397;17702006;20695019;9683594 germline;unknown Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912;MedGen:C3553948;OMIM:614871;Orphanet:44;MedGen:CN221809 2010-08-01;2016-07-22;2015-12-08 2 0 -1 2338250 C G 2338250 2338250 - Variant 296277 RCV000408360;RCV000425126 SCV000355608;SCV000511689 280137 PEX10 NM_153818.1:c.745G>C NP_722540.1:p.Val249Leu NM_153818.1:c.745G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jan 05, 2017 Illumina Clinical Services Laboratory,Illumina;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Illumina Clinical Services Laboratory,Illumina;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Zellweger syndrome;Zellweger Syndrome;not provided 20301621;25741868 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006;MedGen:CN221809 2016-06-14;2017-01-05-06:00 1 1 +1 2338230 C CT 2338231 2338231 - Variant 6774 RCV000007176;RCV000149808;RCV000324305 SCV000027372;SCV000487553;SCV000487554;SCV000196632;SCV000329456 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic pathogenic 5 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jul 22, 2016 OMIM;Counsyl;GeneDx OMIM;Counsyl;GeneDx Peroxisome biogenesis disorder 6A;PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER);Peroxisome biogenesis disorder 6B;not provided;Not Provided 10862081;15542397;17702006;20695019;9683594 germline;unknown Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912;MedGen:C3553948;OMIM:614871;Orphanet:44;MedGen:CN517202 2010-08-01;2016-07-22;2015-12-08 2 0 +1 2338250 C G 2338250 2338250 - Variant 296277 RCV000408360;RCV000425126 SCV000355608;SCV000511689 280137 PEX10 NM_153818.1:c.745G>C NP_722540.1:p.Val249Leu NM_153818.1:c.745G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jan 05, 2017 Illumina Clinical Services Laboratory,Illumina;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Illumina Clinical Services Laboratory,Illumina;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Zellweger syndrome;Zellweger Syndrome;not provided 20301621;25741868 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006;MedGen:CN517202 2016-06-14;2017-01-05 1 1 1 2338294 C T 2338294 2338294 - Variant 291156 RCV000343088 SCV000345862 275393 PEX10 NM_153818.1:c.701G>A NP_722540.1:p.Arg234His NM_153818.1:c.701G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 08, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-08 1 0 +1 2338295 G A 2338295 2338295 - Variant 446046 RCV000514876 SCV000611011 439318 PEX10 NM_153818.1:c.700C>T NP_722540.1:p.Arg234Cys NM_153818.1:c.700C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 05, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-09-05 1 0 1 2338324 C T 2338324 2338324 - Variant 197386 RCV000178399;RCV000315166 SCV000230472;SCV000355609 194547 PEX10 NM_153818.1:c.671G>A NP_722540.1:p.Arg224His NM_153818.1:c.671G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina not specified;Zellweger syndrome;Zellweger Syndrome 20301621 germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2015-04-21;2016-06-14 2 0 1 2338409 C T 2338409 2338409 - Variant 296278 RCV000367525 SCV000355610 281805 PEX10 NM_153818.1:c.601-15G>A NM_153818.1:c.601-15G>A:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 -1 2339890 C T 2339890 2339890 - Variant 6770 RCV000007172 SCV000027368 21809 PEX10 NM_153818.1:c.600+1G>A NM_153818.1:c.600+1G>A:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 01, 1998 OMIM OMIM Peroxisome biogenesis disorder 6A;PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 9683594 germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 1998-08-01 0 0 +1 2339890 C T 2339890 2339890 - Variant 6770 RCV000007172;RCV000519441 SCV000027368;SCV000617242 21809 PEX10 NM_153818.1:c.600+1G>A NM_153818.1:c.600+1G>A:splice donor variant Pathogenic pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter May 15, 2017 OMIM;GeneDx OMIM;GeneDx Peroxisome biogenesis disorder 6A;PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER);not provided;Not Provided 9683594 germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912;MedGen:CN517202 1998-08-01;2017-05-15 1 0 1 2339936 G A 2339936 2339936 - Variant 296279 RCV000275159 SCV000355611 281806 PEX10 NM_153818.1:c.555C>T NP_722540.1:p.His185= NM_153818.1:c.555C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 1 2339996 G A 2339996 2339996 - Variant 196588 RCV000177416 SCV000229272 193749 PEX10 NM_153818.1:c.495C>T NP_722540.1:p.Phe165= NM_153818.1:c.495C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 06, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-06 1 0 1 2340045 G A 2340045 2340045 - Variant 289259 RCV000378264 SCV000343590 273496 PEX10 NM_153818.1:c.446C>T NP_722540.1:p.Thr149Met NM_153818.1:c.446C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 05, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-07-05 1 0 +1 2340055 G C 2340055 2340055 - Variant 452215 RCV000520880 SCV000621003 442784 PEX10 NM_153818.1:c.436C>G NP_722540.1:p.Arg146Gly NM_153818.1:c.436C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 22, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-09-22 1 0 1 2340073 C G 2340073 2340073 - Variant 296280 RCV000309150 SCV000355612 281810 PEX10 NM_153818.1:c.418G>C NP_722540.1:p.Gly140Arg NM_153818.1:c.418G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 1 2340118 G A 2340118 2340118 - Variant 6772 RCV000007174 SCV000027370 21811 PEX10 NM_153818.1:c.373C>T NP_722540.1:p.Arg125Ter NM_153818.1:c.373C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 01, 1998 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 9683594 germline MedGen:C3553948;OMIM:614871;Orphanet:44 1998-08-01 0 0 1 2340139 G A 2340139 2340139 - Variant 371748 RCV000410037;RCV000411504 SCV000487627;SCV000487628 357074 PEX10 NM_153818.1:c.352C>T NP_722540.1:p.Gln118Ter NM_153818.1:c.352C>T:nonsense Likely pathogenic likely pathogenic 0 2 0 0 0 criteria provided, single submitter criteria provided, single submitter Oct 21, 2016 Counsyl Counsyl Peroxisome biogenesis disorder 6A;Peroxisome biogenesis disorder 6B 10862081;21031596;25525159 unknown Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912;MedGen:C3553948;OMIM:614871;Orphanet:44 2016-10-21 1 0 -1 2340152 CA C 2340153 2340153 - Variant 235465 RCV000224922 SCV000281066 237148 PEX10 NM_153818.1:c.338delT NP_722540.1:p.Leu113Argfs NM_153818.1:c.338delT:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Jan 11, 2016 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-01-11-06:00 1 0 +1 2340152 CA C 2340153 2340153 - Variant 235465 RCV000224922 SCV000281066 237148 PEX10 NM_153818.1:c.338delT NP_722540.1:p.Leu113Argfs NM_153818.1:c.338delT:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Jan 11, 2016 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2016-01-11 1 0 1 2340153 AG A 2340154 2340154 - Variant 162431 RCV000149809 SCV000196633 172122 PEX10 NM_153818.1:c.337delC NP_722540.1:p.Leu113Trpfs NM_153818.1:c.337delC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 12, 2015 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 19127411;8982949 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2009-02-01 0 0 1 2340158 G A 2340158 2340158 - Variant 289556 RCV000356298 SCV000343936 273793 PEX10 NM_153818.1:c.333C>T NP_722540.1:p.Leu111= NM_153818.1:c.333C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 15, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-07-15 1 0 1 2340173 C T 2340173 2340173 - Variant 262789 RCV000249703;RCV000366305 SCV000316394;SCV000355613 249843 PEX10 NM_153818.1:c.318G>A NP_722540.1:p.Leu106= NM_153818.1:c.318G>A:synonymous variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 PreventionGenetics;Illumina Clinical Services Laboratory,Illumina PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 0000-00-00;2016-06-14 1 1 @@ -442,8 +592,9 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 2340302 G A 2340302 2340302 - Variant 262788 RCV000250225;RCV000377774 SCV000334697;SCV000316391;SCV000355619 249844 PEX10 NM_153818.1:c.194-5C>T NM_153818.1:c.194-5C>T:intron variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 2 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 0000-00-00;2015-09-04;2016-06-14 1 1 1 2341879 A T 2341879 2341879 - Variant 436285 RCV000503264 SCV000596392 427756 PEX10 NM_153818.1:c.124T>A NP_722540.1:p.Trp42Arg NM_153818.1:c.124T>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 13, 2015 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-08-13 1 0 1 2343936 G C 2343936 2343936 - Variant 284321 RCV000280964;RCV000370857 SCV000355620;SCV000336900 268558 PEX10 NM_153818.1:c.6C>G NP_722540.1:p.Ala2= NM_153818.1:c.6C>G:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;benign 0 0 1 0 1 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Illumina Clinical Services Laboratory,Illumina;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Zellweger syndrome;Zellweger Syndrome;not specified 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006;MedGen:CN169374 2016-06-14;2015-10-30 1 1 +1 2343937 GC G 2343938 2343938 - Variant 449304 RCV000520897 SCV000617243 442785 PEX10 NM_153818.1:c.4delG NP_722540.1:p.Ala2Profs NM_153818.1:c.4delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter May 15, 2017 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2017-05-15 1 0 1 2343940 A G 2343940 2343940 - Variant 162434 RCV000149812 SCV000196636 172125 PEX10 NM_153818.1:c.2T>C NP_722540.1:p.Met1Thr NM_153818.1:c.2T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 12, 2015 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 20695019 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2010-08-01 0 0 -1 2343941 T C 2343941 2343941 - Variant 280002 RCV000341916 SCV000329696 263985 PEX10 NM_153818.1:c.1A>G NP_722540.1:p.Met1Val NM_153818.1:c.1A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Nov 25, 2015 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2015-11-25 1 0 +1 2343941 T C 2343941 2343941 - Variant 280002 RCV000341916 SCV000329696 263985 PEX10 NM_153818.1:c.1A>G NP_722540.1:p.Met1Val NM_153818.1:c.1A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Nov 25, 2015 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2015-11-25 1 0 1 2343991 CCA C 2343992 2343993 - Variant 296284 RCV000338225 SCV000355621 281942 PEX10 NM_153818.1:c.-52_-51delTG NM_153818.1:c.-52_-51delTG:5 prime UTR variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 1 2488153 A G 2488153 2488153 + Variant 135349 RCV000122164 SCV000086379 139088 TNFRSF14 NM_003820.3:c.50A>G NP_003811.2:p.Lys17Arg NM_003820.3:c.50A>G:missense variant;NR_037844.2:n.36-18T>C:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 1 2490452 C T 2490452 2490452 + Variant 133394 RCV000119896 SCV000084026 137133 TNFRSF14 NM_003820.3:c.304+545C>T NM_003820.3:c.304+545C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 @@ -475,7 +626,7 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 2492123 G A 2492123 2492123 + Variant 135354 RCV000122169 SCV000086384 139093 TNFRSF14 NM_003820.3:c.521G>A NP_003811.2:p.Gly174Glu NM_003820.3:c.521G>A:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 1 2492946 AG A 2492947 2492947 + Variant 133416 RCV000119918 SCV000084048 137155 TNFRSF14 NM_003820.3:c.552-165delG NM_003820.3:c.552-165delG:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 1 2492972 C T 2492972 2492972 + Variant 133417 RCV000119919 SCV000084049 137156 TNFRSF14 NM_003820.3:c.552-140C>T NM_003820.3:c.552-140C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 -1 2493118 C G 2493118 2493118 + Variant 91954 RCV000122511 SCV000155019 97432 TNFRSF14 NM_003820.3:c.558C>G NP_003811.2:p.Ser186Arg NM_001297605.1:c.551+965C>G:intron variant;NM_003820.3:c.558C>G:missense variant Uncertain significance unknown 0 0 0 0 0 no assertion criteria provided no assertion criteria provided - Richard Lifton Laboratory, Yale University School of Medicine Richard Lifton Laboratory, Yale University School of Medicine not provided;not provided somatic MedGen:CN221809 0000-00-00 0 0 +1 2493118 C G 2493118 2493118 + Variant 91954 RCV000122511 SCV000155019 97432 TNFRSF14 NM_003820.3:c.558C>G NP_003811.2:p.Ser186Arg NM_001297605.1:c.551+965C>G:intron variant;NM_003820.3:c.558C>G:missense variant Uncertain significance unknown 0 0 0 0 0 no assertion criteria provided no assertion criteria provided - Richard Lifton Laboratory, Yale University School of Medicine Richard Lifton Laboratory, Yale University School of Medicine not provided;not provided somatic MedGen:CN517202 0000-00-00 0 0 1 2494330 G A 2494330 2494330 + Variant 135355 RCV000122170 SCV000086385 139094 TNFRSF14 NM_003820.3:c.721G>A NP_003811.2:p.Val241Ile NM_001297605.1:c.*23G>A:3 prime UTR variant;NM_003820.3:c.721G>A:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 1 2494645 C T 2494645 2494645 + Variant 135356 RCV000122171 SCV000086386 139095 TNFRSF14 NM_003820.3:c.785C>T NP_003811.2:p.Pro262Leu NM_001297605.1:c.*87C>T:3 prime UTR variant;NM_003820.3:c.785C>T:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 1 2494657 C T 2494657 2494657 + Variant 135357 RCV000122172 SCV000086387 139096 TNFRSF14 NM_003820.3:c.797C>T NP_003811.2:p.Thr266Met NM_001297605.1:c.*99C>T:3 prime UTR variant;NM_003820.3:c.797C>T:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 @@ -483,268 +634,117 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 2985844 G A 2985844 2985844 + Variant 390136 RCV000439530 SCV000532887 365123 PRDM16 NM_022114.3:c.21G>A NP_071397.3:p.Ala7= NM_022114.3:c.21G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-26 1 0 1 3102674 C T 3102674 3102674 + Variant 227038 RCV000222776 SCV000525689;SCV000269736 228410 PRDM16 NM_022114.3:c.38-15C>T NM_022114.3:c.38-15C>T:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Nov 21, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-11-21 2 0 1 3102675 G A 3102675 3102675 + Variant 229168 RCV000219133 SCV000527901;SCV000272332 228412 PRDM16 NM_022114.3:c.38-14G>A NM_022114.3:c.38-14G>A:intron variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter May 25, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-04-14;2017-05-25 1 1 -1 3102751 G A 3102751 3102751 + Variant 227857 RCV000215109;RCV000228623 SCV000270747;SCV000525664;SCV000290637 228413 PRDM16 NM_022114.3:c.100G>A NP_071397.3:p.Ala34Thr NM_022114.3:c.100G>A:missense variant Likely benign likely benign 0 0 0 3 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 12, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-04-01;2016-10-06;2016-12-12 2 0 -1 3102752 C T 3102752 3102752 + Variant 406246 RCV000456657 SCV000544798 391167 PRDM16 NM_022114.3:c.101C>T NP_071397.3:p.Ala34Val NM_022114.3:c.101C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 19, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-19 1 0 -1 3102793 G A 3102793 3102793 + Variant 241420 RCV000234327;RCV000430883 SCV000290639;SCV000534200 238267 PRDM16 NM_022114.3:c.142G>A NP_071397.3:p.Val48Met NM_022114.3:c.142G>A:missense variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 22, 2016 Invitae,;GeneDx Invitae,;GeneDx Left ventricular noncompaction 8;not specified germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 2015-11-17;2016-11-22 2 0 +1 3102694 G A 3102694 3102694 + Variant 451384 RCV000523808 SCV000620077 442820 PRDM16 NM_022114.3:c.43G>A NP_071397.3:p.Gly15Ser NM_022114.3:c.43G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 16, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-16 1 0 +1 3102700 G A 3102700 3102700 + Variant 474437 RCV000548450 SCV000654402 448102 PRDM16 NM_022114.3:c.49G>A NP_071397.3:p.Val17Ile NM_022114.3:c.49G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 19, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-19 1 0 +1 3102700 G T 3102700 3102700 + Variant 474438 RCV000528572 SCV000654403 447765 PRDM16 NM_022114.3:c.49G>T NP_071397.3:p.Val17Phe NM_022114.3:c.49G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 16, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-05-16 1 0 +1 3102727 C T 3102727 3102727 + Variant 474439 RCV000549245 SCV000654405 447766 PRDM16 NM_022114.3:c.76C>T NP_071397.3:p.Arg26Trp NM_022114.3:c.76C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 31, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-07-31 1 0 +1 3102751 G A 3102751 3102751 + Variant 227857 RCV000215109;RCV000228623 SCV000270747;SCV000525664;SCV000290637 228413 PRDM16 NM_022114.3:c.100G>A NP_071397.3:p.Ala34Thr NM_022114.3:c.100G>A:missense variant Likely benign likely benign 0 0 0 3 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 10, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-04-01;2017-07-10;2017-05-30 2 0 +1 3102752 C T 3102752 3102752 + Variant 406246 RCV000456657 SCV000544798 391167 PRDM16 NM_022114.3:c.101C>T NP_071397.3:p.Ala34Val NM_022114.3:c.101C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 19, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-19 1 0 +1 3102753 G A 3102753 3102753 + Variant 474401 RCV000557090 SCV000654357 447768 PRDM16 NM_022114.3:c.102G>A NP_071397.3:p.Ala34= NM_022114.3:c.102G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Feb 03, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-02-03 1 0 +1 3102793 G A 3102793 3102793 + Variant 241420 RCV000234327;RCV000430883 SCV000290639;SCV000534200 238267 PRDM16 NM_022114.3:c.142G>A NP_071397.3:p.Val48Met NM_022114.3:c.142G>A:missense variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 24, 2017 Invitae;GeneDx Invitae;GeneDx Left ventricular noncompaction 8;not specified germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 2015-11-17;2017-08-24 2 0 1 3102797 G A 3102797 3102797 + Variant 423614 RCV000486085 SCV000573332 405157 PRDM16 NM_022114.3:c.146G>A NP_071397.3:p.Gly49Glu NM_022114.3:c.146G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 15, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-15 1 0 -1 3102851 C T 3102851 3102851 + Variant 406237 RCV000469281 SCV000544788 391187 PRDM16 NM_022114.3:c.200C>T NP_071397.3:p.Pro67Leu NM_022114.3:c.200C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 05, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-05 1 0 -1 3102852 G A 3102852 3102852 + Variant 227864 RCV000220218;RCV000228859 SCV000270754;SCV000290643 228414 PRDM16 NM_022114.3:c.201G>A NP_071397.3:p.Pro67= NM_022114.3:c.201G>A:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 24, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-08-11;2016-06-24 2 0 +1 3102848 C T 3102848 3102848 + Variant 474414 RCV000554012 SCV000654371 448074 PRDM16 NM_022114.3:c.197C>T NP_071397.3:p.Ser66Leu NM_022114.3:c.197C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 09, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-03-09 1 0 +1 3102851 C T 3102851 3102851 + Variant 406237 RCV000469281 SCV000544788 391187 PRDM16 NM_022114.3:c.200C>T NP_071397.3:p.Pro67Leu NM_022114.3:c.200C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 05, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-05 1 0 +1 3102852 G A 3102852 3102852 + Variant 227864 RCV000220218;RCV000228859 SCV000270754;SCV000290643 228414 PRDM16 NM_022114.3:c.201G>A NP_071397.3:p.Pro67= NM_022114.3:c.201G>A:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 25, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-08-11;2017-07-25 2 0 +1 3102983 G A 3102983 3102983 + Variant 474427 RCV000555918 SCV000654388 448076 PRDM16 NM_022114.3:c.332G>A NP_071397.3:p.Gly111Asp NM_022114.3:c.332G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 22, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-03-22 1 0 1 3102998 T C 3102998 3102998 + Variant 391742 RCV000426483 SCV000534878 365215 PRDM16 NM_022114.3:c.347T>C NP_071397.3:p.Val116Ala NM_022114.3:c.347T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 16, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-16 1 0 -1 3103044 C T 3103044 3103044 + Variant 227039 RCV000216479;RCV000464355 SCV000269737;SCV000556981 228415 PRDM16 NM_022114.3:c.387+6C>T NM_022114.3:c.387+6C>T:intron variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 06, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-06-10;2016-11-06 2 0 +1 3103004 G A 3103004 3103004 + Variant 474433 RCV000532976 SCV000654395 447770 PRDM16 NM_022114.3:c.353G>A NP_071397.3:p.Arg118Gln NM_022114.3:c.353G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 28, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-07-28 1 0 +1 3103044 C T 3103044 3103044 + Variant 227039 RCV000216479;RCV000464355 SCV000269737;SCV000556981 228415 PRDM16 NM_022114.3:c.387+6C>T NM_022114.3:c.387+6C>T:intron variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 08, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-06-10;2017-08-08 2 0 +1 3160661 C T 3160661 3160661 + Variant 451127 RCV000519955 SCV000619783 442821 PRDM16 NM_022114.3:c.398C>T NP_071397.3:p.Thr133Met NM_022114.3:c.398C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 03, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-03 1 0 1 3160666 G A 3160666 3160666 + Variant 432894 RCV000498621 SCV000590667 425363 PRDM16 NM_022114.3:c.403G>A NP_071397.3:p.Val135Met NM_022114.3:c.403G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 19, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-19 1 0 -1 3160692 C T 3160692 3160692 + Variant 227040 RCV000219941 SCV000269738 228416 PRDM16 NM_022114.3:c.429C>T NP_071397.3:p.Cys143= NM_022114.3:c.429C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Nov 24, 2014 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 1 0 -1 3301712 G T 3301712 3301712 + Variant 413869 RCV000463252 SCV000556978 391188 PRDM16 NM_022114.3:c.439-4G>T NM_022114.3:c.439-4G>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 26, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-26 1 0 +1 3160692 C T 3160692 3160692 + Variant 227040 RCV000219941;RCV000559512 SCV000269738;SCV000654400 228416 PRDM16 NM_022114.3:c.429C>T NP_071397.3:p.Cys143= NM_022114.3:c.429C>T:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 16, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2017-05-16 2 0 +1 3301712 G T 3301712 3301712 + Variant 413869 RCV000463252 SCV000556978 391188 PRDM16 NM_022114.3:c.439-4G>T NM_022114.3:c.439-4G>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 26, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-26 1 0 1 3301721 C T 3301721 3301721 + Variant 227041 RCV000213616 SCV000269739;SCV000520304 228417 PRDM16 NM_022114.3:c.444C>T NP_071397.3:p.Ser148= NM_022114.3:c.444C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 09, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-09 2 0 -1 3301758 A G 3301758 3301758 + Variant 406240 RCV000475755 SCV000544792 391170 PRDM16 NM_022114.3:c.481A>G NP_071397.3:p.Asn161Asp NM_022114.3:c.481A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 19, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-19 1 0 -1 3301765 C T 3301765 3301765 + Variant 391177 RCV000444937 SCV000534187 365226 PRDM16 NM_022114.3:c.488C>T NP_071397.3:p.Ala163Val NM_022114.3:c.488C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 30, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-30 1 0 -1 3301830 A G 3301830 3301830 + Variant 235271 RCV000224254 SCV000280726 236958 PRDM16 NM_022114.3:c.553A>G NP_071397.3:p.Met185Val NM_022114.3:c.553A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 11, 2016 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-01-11-06:00 1 0 -1 3301859 G A 3301859 3301859 + Variant 413864 RCV000473521 SCV000556968 391176 PRDM16 NM_022114.3:c.573+9G>A NM_022114.3:c.573+9G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 03, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 1 0 +1 3301758 A G 3301758 3301758 + Variant 406240 RCV000475755 SCV000544792 391170 PRDM16 NM_022114.3:c.481A>G NP_071397.3:p.Asn161Asp NM_022114.3:c.481A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 19, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-19 1 0 +1 3301765 C T 3301765 3301765 + Variant 391177 RCV000444937;RCV000535819 SCV000534187;SCV000654401 365226 PRDM16 NM_022114.3:c.488C>T NP_071397.3:p.Ala163Val NM_022114.3:c.488C>T:missense variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 07, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Left ventricular noncompaction 8 28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-30;2017-06-07 2 0 +1 3301830 A G 3301830 3301830 + Variant 235271 RCV000224254;RCV000536598 SCV000280726;SCV000654404 236958 PRDM16 NM_022114.3:c.553A>G NP_071397.3:p.Met185Val NM_022114.3:c.553A>G:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jul 26, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae not provided;Left ventricular noncompaction 8 25741868;28492532 germline MedGen:CN517202;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-01-11;2017-07-26 1 1 +1 3301859 G A 3301859 3301859 + Variant 413864 RCV000473521 SCV000556968 391176 PRDM16 NM_022114.3:c.573+9G>A NM_022114.3:c.573+9G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 03, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 1 0 1 3313031 TTCTC T 3313035 3313038 + Variant 422807 RCV000482222 SCV000572372 405161 PRDM16 NM_022114.3:c.574-20_574-17delCTCT NM_022114.3:c.574-20_574-17delCTCT:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 29, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-29 1 0 -1 3313108 C T 3313108 3313108 + Variant 227042 RCV000217911;RCV000470033 SCV000269740;SCV000527902;SCV000556962 228418 PRDM16 NM_022114.3:c.627C>T NP_071397.3:p.His209= NM_022114.3:c.627C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 29, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-10-11;2016-12-29 2 0 +1 3313108 C T 3313108 3313108 + Variant 227042 RCV000217911;RCV000470033 SCV000269740;SCV000527902;SCV000556962 228418 PRDM16 NM_022114.3:c.627C>T NP_071397.3:p.His209= NM_022114.3:c.627C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 08, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-10-11;2017-08-08 2 0 1 3313138 A C 3313138 3313138 + Variant 227872 RCV000217723 SCV000270762 228419 PRDM16 NM_022114.3:c.657A>C NP_071397.3:p.Thr219= NM_022114.3:c.657A>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 01, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-01 1 0 1 3313147 C T 3313147 3313147 + Variant 226442 RCV000488452 SCV000270763 228241 PRDM16 NM_022114.3:c.666C>T NP_071397.3:p.Pro222= NM_022114.3:c.666C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 11, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-11 1 0 1 3319339 G A 3319339 3319339 + Variant 381208 RCV000420246 SCV000520353 365019 PRDM16 NM_022114.3:c.677-16G>A NM_022114.3:c.677-16G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Oct 04, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-04 1 0 1 3319392 C A 3319392 3319392 + Variant 227874 RCV000214448 SCV000270764 228420 PRDM16 NM_022114.3:c.714C>A NP_071397.3:p.Leu238= NM_022114.3:c.714C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 24, 2014 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 1 0 -1 3319461 C T 3319461 3319461 + Variant 227043 RCV000220870;RCV000228241 SCV000528008;SCV000269741;SCV000290657 228422 PRDM16 NM_022114.3:c.783C>T NP_071397.3:p.Tyr261= NM_022114.3:c.783C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 19, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-10-04;2017-01-19 2 0 +1 3319461 C T 3319461 3319461 + Variant 227043 RCV000220870;RCV000228241 SCV000528008;SCV000269741;SCV000290657 228422 PRDM16 NM_022114.3:c.783C>T NP_071397.3:p.Tyr261= NM_022114.3:c.783C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 18, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-10-04;2017-07-18 2 0 1 3319500 C T 3319500 3319500 + Variant 227875 RCV000217462 SCV000270765 228423 PRDM16 NM_022114.3:c.822C>T NP_071397.3:p.Gly274= NM_022114.3:c.822C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 24, 2014 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 1 0 -1 3319503 TG T 3319504 3319504 + Variant 377306 RCV000442803 SCV000511708 364184 PRDM16 NM_022114.3:c.826delG NP_071397.3:p.Gly276Alafs NM_022114.3:c.826delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Feb 07, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-02-07-06:00 1 0 +1 3319503 TG T 3319504 3319504 + Variant 377306 RCV000442803 SCV000511708 364184 PRDM16 NM_022114.3:c.826delG NP_071397.3:p.Gly276Alafs NM_022114.3:c.826delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Feb 07, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-02-07 1 0 1 3319545 G A 3319545 3319545 + Variant 229169 RCV000223395 SCV000272333 228425 PRDM16 NM_022114.3:c.867G>A NP_071397.3:p.Met289Ile NM_022114.3:c.867G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 14, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-14 1 0 1 3319550 C T 3319550 3319550 + Variant 60728 RCV000054522 SCV000083000 75288 PRDM16 NM_022114.3:c.872C>T NP_071397.3:p.Pro291Leu NM_022114.3:c.872C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 11, 2013 OMIM OMIM Dilated cardiomyopathy 1LL;CARDIOMYOPATHY, DILATED, 1LL 23768516 germline MedGen:CN178850;OMIM:615373 2013-07-11 0 0 -1 3321298 C T 3321298 3321298 + Variant 391408 RCV000431911 SCV000534475 365024 PRDM16 NM_022114.3:c.885-5C>T NM_022114.3:c.885-5C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 05, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-05 1 0 -1 3321299 G A 3321299 3321299 + Variant 413870 RCV000457740 SCV000556980 391323 PRDM16 NM_022114.3:c.885-4G>A NM_022114.3:c.885-4G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 31, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-31 1 0 -1 3322049 G A 3322049 3322049 + Variant 413861 RCV000466116 SCV000556961 391327 PRDM16 NM_022114.3:c.1033-10G>A NM_022114.3:c.1033-10G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 20, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-09-20 1 0 -1 3322051 C T 3322051 3322051 + Variant 413872 RCV000465432 SCV000556984 391224 PRDM16 NM_022114.3:c.1033-8C>T NM_022114.3:c.1033-8C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 04, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-04-04 1 0 -1 3322097 C T 3322097 3322097 + Variant 221025 RCV000204192;RCV000220538 SCV000262104;SCV000533008;SCV000269718 221095 PRDM16 NM_022114.3:c.1071C>T NP_071397.3:p.Arg357= NM_022114.3:c.1071C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 12, 2017 Invitae,;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Invitae,;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Left ventricular noncompaction 8;not specified;Not specified 24033266 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 2017-01-12;2014-11-24;2016-11-16 2 0 +1 3321298 C T 3321298 3321298 + Variant 391408 RCV000431911 SCV000534475 365024 PRDM16 NM_022114.3:c.885-5C>T NM_022114.3:c.885-5C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 06, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-11-06 1 0 +1 3321299 G A 3321299 3321299 + Variant 413870 RCV000457740 SCV000556980 391323 PRDM16 NM_022114.3:c.885-4G>A NM_022114.3:c.885-4G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 31, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-31 1 0 +1 3321354 C T 3321354 3321354 + Variant 474440 RCV000525376 SCV000654406 448121 PRDM16 NM_022114.3:c.936C>T NP_071397.3:p.Asp312= NM_022114.3:c.936C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 16, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-05-16 1 0 +1 3322049 G A 3322049 3322049 + Variant 413861 RCV000466116 SCV000556961 391327 PRDM16 NM_022114.3:c.1033-10G>A NM_022114.3:c.1033-10G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 20, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-09-20 1 0 +1 3322051 C T 3322051 3322051 + Variant 413872 RCV000465432 SCV000556984 391224 PRDM16 NM_022114.3:c.1033-8C>T NM_022114.3:c.1033-8C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 04, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-04-04 1 0 +1 3322097 C T 3322097 3322097 + Variant 221025 RCV000204192;RCV000220538 SCV000262104;SCV000533008;SCV000269718 221095 PRDM16 NM_022114.3:c.1071C>T NP_071397.3:p.Arg357= NM_022114.3:c.1071C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 20, 2017 Invitae;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Invitae;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Left ventricular noncompaction 8;not specified;Not specified 28492532;24033266 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 2017-06-20;2014-11-24;2016-11-16 2 0 1 3322107 G A 3322107 3322107 + Variant 229155 RCV000213682 SCV000272319 228426 PRDM16 NM_022114.3:c.1081G>A NP_071397.3:p.Val361Met NM_022114.3:c.1081G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 08, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-08 1 0 -1 3322119 G T 3322119 3322119 + Variant 229156 RCV000216650 SCV000272320 228427 PRDM16 NM_022114.3:c.1093G>T NP_071397.3:p.Ala365Ser NM_022114.3:c.1093G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 28, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-05-28 1 0 -1 3322139 C T 3322139 3322139 + Variant 227022 RCV000214207;RCV000475757 SCV000269719;SCV000525690;SCV000556971 228429 PRDM16 NM_022114.3:c.1113C>T NP_071397.3:p.Cys371= NM_022114.3:c.1113C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 10, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-09-30;2017-01-10 2 0 +1 3322119 G T 3322119 3322119 + Variant 229156 RCV000216650 SCV000272320;SCV000620976 228427 PRDM16 NM_022114.3:c.1093G>T NP_071397.3:p.Ala365Ser NM_022114.3:c.1093G>T:missense variant Uncertain significance uncertain significance;uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 19, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-05-28;2017-09-19 2 0 +1 3322139 C T 3322139 3322139 + Variant 227022 RCV000214207;RCV000475757 SCV000269719;SCV000525690;SCV000556971 228429 PRDM16 NM_022114.3:c.1113C>T NP_071397.3:p.Cys371= NM_022114.3:c.1113C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 26, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-09-30;2017-07-26 2 0 1 3322142 G A 3322142 3322142 + Variant 227858 RCV000219433 SCV000535019;SCV000270748 228428 PRDM16 NM_022114.3:c.1116G>A NP_071397.3:p.Gly372= NM_022114.3:c.1116G>A:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Dec 20, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-06-10;2016-12-20 2 0 -1 3322160 C G 3322160 3322160 + Variant 227859 RCV000222431;RCV000463379 SCV000534351;SCV000270749;SCV000556958 228430 PRDM16 NM_022114.3:c.1134C>G NP_071397.3:p.Ser378= NM_022114.3:c.1134C>G:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 28, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-03-24;2016-11-28;2016-06-21 2 0 +1 3322160 C G 3322160 3322160 + Variant 227859 RCV000222431;RCV000463379 SCV000534351;SCV000270749;SCV000556958 228430 PRDM16 NM_022114.3:c.1134C>G NP_071397.3:p.Ser378= NM_022114.3:c.1134C>G:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 28, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-03-24;2016-11-28;2016-06-21 2 0 1 3327938 G C 3327938 3327938 + Variant 229157 RCV000221026 SCV000272321 228431 PRDM16 NM_022114.3:c.1187-10G>C NM_022114.3:c.1187-10G>C:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 26, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-05-26 1 0 -1 3327973 G A 3327973 3327973 + Variant 227023 RCV000217174;RCV000230341 SCV000531906;SCV000269720;SCV000290638 228432 PRDM16 NM_022114.3:c.1212G>A NP_071397.3:p.Thr404= NM_022114.3:c.1212G>A:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 12, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2017-01-12;2017-01-04 2 0 +1 3327949 T C 3327949 3327949 + Variant 474402 RCV000537653 SCV000654358 448124 PRDM16 NM_022114.3:c.1188T>C NP_071397.3:p.Cys396= NM_022114.3:c.1188T>C:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 28, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-07-28 1 0 +1 3327973 G A 3327973 3327973 + Variant 227023 RCV000217174;RCV000230341 SCV000531906;SCV000269720;SCV000290638 228432 PRDM16 NM_022114.3:c.1212G>A NP_071397.3:p.Thr404= NM_022114.3:c.1212G>A:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 21, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2017-01-12;2017-07-21 2 0 1 3328086 G A 3328086 3328086 + Variant 373356 RCV000414577 SCV000491943 359261 PRDM16 NM_022114.3:c.1325G>A NP_071397.3:p.Arg442Gln NM_022114.3:c.1325G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-21 1 0 1 3328089 G A 3328089 3328089 + Variant 432618 RCV000497461 SCV000590367 425364 PRDM16 NM_022114.3:c.1328G>A NP_071397.3:p.Arg443His NM_022114.3:c.1328G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 09, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-09 1 0 1 3328124 G A 3328124 3328124 + Variant 227860 RCV000214839 SCV000270750 228433 PRDM16 NM_022114.3:c.1363G>A NP_071397.3:p.Gly455Ser NM_022114.3:c.1363G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 24, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-11-24 1 0 -1 3328154 C G 3328154 3328154 + Variant 406236 RCV000459138 SCV000544787 391328 PRDM16 NM_022114.3:c.1393C>G NP_071397.3:p.Pro465Ala NM_022114.3:c.1393C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 13, 2017 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-13 1 0 -1 3328187 C T 3328187 3328187 + Variant 227024 RCV000221460;RCV000474106 SCV000269721;SCV000556965 228435 PRDM16 NM_022114.3:c.1426C>T NP_071397.3:p.Pro476Ser NM_022114.3:c.1426C>T:missense variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 12, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-09-12 2 0 -1 3328219 CG C 3328220 3328220 + Variant 426516 RCV000489128 SCV000576978 414793 PRDM16 NM_022114.3:c.1459delG NP_071397.3:p.Glu487Serfs NM_022114.3:c.1459delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Apr 13, 2017 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2017-04-13 1 0 -1 3328246 G A 3328246 3328246 + Variant 406234 RCV000464362 SCV000544785 391330 PRDM16 NM_022114.3:c.1485G>A NP_071397.3:p.Pro495= NM_022114.3:c.1485G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 06, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-06 1 0 -1 3328279 G A 3328279 3328279 + Variant 227025 RCV000214308;RCV000461808 SCV000532874;SCV000269722;SCV000556955 228434 PRDM16 NM_022114.3:c.1518G>A NP_071397.3:p.Thr506= NM_022114.3:c.1518G>A:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 18, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-12-07;2017-01-18 2 0 -1 3328298 G A 3328298 3328298 + Variant 241421 RCV000228195 SCV000290640 238269 PRDM16 NM_022114.3:c.1537G>A NP_071397.3:p.Gly513Ser NM_022114.3:c.1537G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 28, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-28 1 0 -1 3328306 G A 3328306 3328306 + Variant 413859 RCV000477564 SCV000556957 391189 PRDM16 NM_022114.3:c.1545G>A NP_071397.3:p.Pro515= NM_022114.3:c.1545G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 03, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 1 0 -1 3328329 A AC 3328334 3328334 + Variant 280120 RCV000365162 SCV000329980 264033 PRDM16 NM_022114.3:c.1573dupC NP_071397.3:p.Arg525Profs NM_022114.3:c.1573dupC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Feb 08, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-02-08 1 0 +1 3328131 T C 3328131 3328131 + Variant 451963 RCV000519018 SCV000620733 442825 PRDM16 NM_022114.3:c.1370T>C NP_071397.3:p.Phe457Ser NM_022114.3:c.1370T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 11, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-09-11 1 0 +1 3328154 C G 3328154 3328154 + Variant 406236 RCV000459138 SCV000544787 391328 PRDM16 NM_022114.3:c.1393C>G NP_071397.3:p.Pro465Ala NM_022114.3:c.1393C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 16, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-16 1 0 +1 3328187 C T 3328187 3328187 + Variant 227024 RCV000221460;RCV000474106 SCV000269721;SCV000556965 228435 PRDM16 NM_022114.3:c.1426C>T NP_071397.3:p.Pro476Ser NM_022114.3:c.1426C>T:missense variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 12, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-09-12 2 0 +1 3328201 C T 3328201 3328201 + Variant 474403 RCV000550434 SCV000654359 447823 PRDM16 NM_022114.3:c.1440C>T NP_071397.3:p.His480= NM_022114.3:c.1440C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 09, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-02-09 1 0 +1 3328219 CG C 3328220 3328220 + Variant 426516 RCV000489128 SCV000576978 414793 PRDM16 NM_022114.3:c.1459delG NP_071397.3:p.Glu487Serfs NM_022114.3:c.1459delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Apr 13, 2017 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2017-04-13 1 0 +1 3328242 A C 3328242 3328242 + Variant 474404 RCV000558278 SCV000654360 447997 PRDM16 NM_022114.3:c.1481A>C NP_071397.3:p.His494Pro NM_022114.3:c.1481A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 10, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-07-10 1 0 +1 3328243 C G 3328243 3328243 + Variant 474405 RCV000537432 SCV000654361 447999 PRDM16 NM_022114.3:c.1482C>G NP_071397.3:p.His494Gln NM_022114.3:c.1482C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 22, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-06-22 1 0 +1 3328246 G A 3328246 3328246 + Variant 406234 RCV000464362 SCV000544785 391330 PRDM16 NM_022114.3:c.1485G>A NP_071397.3:p.Pro495= NM_022114.3:c.1485G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 06, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-06 1 0 +1 3328256 C T 3328256 3328256 + Variant 474406 RCV000549933 SCV000654362 448125 PRDM16 NM_022114.3:c.1495C>T NP_071397.3:p.Pro499Ser NM_022114.3:c.1495C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 16, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-05-16 1 0 +1 3328279 G A 3328279 3328279 + Variant 227025 RCV000214308;RCV000461808 SCV000532874;SCV000269722;SCV000556955 228434 PRDM16 NM_022114.3:c.1518G>A NP_071397.3:p.Thr506= NM_022114.3:c.1518G>A:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 04, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-12-07;2017-08-04 2 0 +1 3328298 G A 3328298 3328298 + Variant 241421 RCV000228195 SCV000290640 238269 PRDM16 NM_022114.3:c.1537G>A NP_071397.3:p.Gly513Ser NM_022114.3:c.1537G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 28, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-28 1 0 +1 3328306 G A 3328306 3328306 + Variant 413859 RCV000477564 SCV000556957 391189 PRDM16 NM_022114.3:c.1545G>A NP_071397.3:p.Pro515= NM_022114.3:c.1545G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 05, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-07-05 1 0 +1 3328327 G T 3328327 3328327 + Variant 474407 RCV000526217 SCV000654363 447830 PRDM16 NM_022114.3:c.1566G>T NP_071397.3:p.Leu522Phe NM_022114.3:c.1566G>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jan 25, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-25 1 0 +1 3328329 A AC 3328334 3328334 + Variant 280120 RCV000365162 SCV000329980 264033 PRDM16 NM_022114.3:c.1573dupC NP_071397.3:p.Arg525Profs NM_022114.3:c.1573dupC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Feb 08, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-02-08 1 0 1 3328335 G A 3328335 3328335 + Variant 229158 RCV000213365 SCV000272322 228436 PRDM16 NM_022114.3:c.1574G>A NP_071397.3:p.Arg525Gln NM_022114.3:c.1574G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 26, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-01-26 1 0 -1 3328339 G A 3328339 3328339 + Variant 227861 RCV000219165;RCV000470998 SCV000270751;SCV000556982 228437 PRDM16 NM_022114.3:c.1578G>A NP_071397.3:p.Pro526= NM_022114.3:c.1578G>A:synonymous variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 18, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-01-22;2016-10-18 2 0 +1 3328339 G A 3328339 3328339 + Variant 227861 RCV000219165;RCV000470998 SCV000270751;SCV000556982 228437 PRDM16 NM_022114.3:c.1578G>A NP_071397.3:p.Pro526= NM_022114.3:c.1578G>A:synonymous variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 30, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-01-22;2017-05-30 2 0 1 3328358 T C 3328358 3328358 + Variant 227026 RCV000217271 SCV000520301;SCV000269723 228438 PRDM16 NM_022114.3:c.1597T>C NP_071397.3:p.Ser533Pro NM_022114.3:c.1597T>C:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 09, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-09 2 0 -1 3328360 G A 3328360 3328360 + Variant 413858 RCV000471293 SCV000556956 391333 PRDM16 NM_022114.3:c.1599G>A NP_071397.3:p.Ser533= NM_022114.3:c.1599G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Aug 03, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-03 1 0 -1 3328393 C T 3328393 3328393 + Variant 241422 RCV000232157 SCV000290641 238270 PRDM16 NM_022114.3:c.1632C>T NP_071397.3:p.Asp544= NM_022114.3:c.1632C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 26, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-02-26 1 0 -1 3328445 G A 3328445 3328445 + Variant 227862 RCV000223463;RCV000459912 SCV000530370;SCV000270752;SCV000556986 228439 PRDM16 NM_022114.3:c.1684G>A NP_071397.3:p.Val562Ile NM_022114.3:c.1684G>A:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 27, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2017-06-27;2016-11-03 2 0 +1 3328360 G A 3328360 3328360 + Variant 413858 RCV000471293 SCV000556956 391333 PRDM16 NM_022114.3:c.1599G>A NP_071397.3:p.Ser533= NM_022114.3:c.1599G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Aug 03, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-03 1 0 +1 3328393 C T 3328393 3328393 + Variant 241422 RCV000232157 SCV000290641 238270 PRDM16 NM_022114.3:c.1632C>T NP_071397.3:p.Asp544= NM_022114.3:c.1632C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 26, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-02-26 1 0 +1 3328412 C T 3328412 3328412 + Variant 474408 RCV000538631 SCV000654364 447834 PRDM16 NM_022114.3:c.1651C>T NP_071397.3:p.Leu551= NM_022114.3:c.1651C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 03, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-07-03 1 0 +1 3328429 G A 3328429 3328429 + Variant 474409 RCV000550818 SCV000654365 448135 PRDM16 NM_022114.3:c.1668G>A NP_071397.3:p.Leu556= NM_022114.3:c.1668G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 01, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-08-01 1 0 +1 3328445 G A 3328445 3328445 + Variant 227862 RCV000223463;RCV000459912 SCV000530370;SCV000270752;SCV000556986 228439 PRDM16 NM_022114.3:c.1684G>A NP_071397.3:p.Val562Ile NM_022114.3:c.1684G>A:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 04, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2017-06-27;2017-08-04 2 0 1 3328467 C T 3328467 3328467 + Variant 426420 RCV000489145 SCV000576855 414794 PRDM16 NM_022114.3:c.1706C>T NP_071397.3:p.Thr569Met NM_022114.3:c.1706C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 17, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-17 1 0 -1 3328480 G A 3328480 3328480 + Variant 241423 RCV000225997 SCV000290642 238271 PRDM16 NM_022114.3:c.1719G>A NP_071397.3:p.Ala573= NM_022114.3:c.1719G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 13, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-13 1 0 +1 3328470 C T 3328470 3328470 + Variant 474410 RCV000526833 SCV000654366 448002 PRDM16 NM_022114.3:c.1709C>T NP_071397.3:p.Thr570Met NM_022114.3:c.1709C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 25, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-04-25 1 0 +1 3328480 G A 3328480 3328480 + Variant 241423 RCV000225997 SCV000290642 238271 PRDM16 NM_022114.3:c.1719G>A NP_071397.3:p.Ala573= NM_022114.3:c.1719G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 13, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-13 1 0 1 3328487 G A 3328487 3328487 + Variant 430198 RCV000494613 SCV000582941 421241 PRDM16 NM_022114.3:c.1726G>A NP_071397.3:p.Glu576Lys NM_022114.3:c.1726G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 19, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-19 1 0 -1 3328558 G A 3328558 3328558 + Variant 390967 RCV000440662 SCV000533929 365233 PRDM16 NM_022114.3:c.1797G>A NP_071397.3:p.Ser599= NM_022114.3:c.1797G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 18, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-18 1 0 +1 3328498 C T 3328498 3328498 + Variant 474411 RCV000539562 SCV000654367 448137 PRDM16 NM_022114.3:c.1737C>T NP_071397.3:p.Phe579= NM_022114.3:c.1737C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 02, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-06-02 1 0 +1 3328506 G A 3328506 3328506 + Variant 474412 RCV000552825 SCV000654368 448142 PRDM16 NM_022114.3:c.1745G>A NP_071397.3:p.Arg582His NM_022114.3:c.1745G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 02, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-03-02 1 0 +1 3328558 G A 3328558 3328558 + Variant 390967 RCV000440662;RCV000533381 SCV000533929;SCV000654369 365233 PRDM16 NM_022114.3:c.1797G>A NP_071397.3:p.Ser599= NM_022114.3:c.1797G>A:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 21, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Left ventricular noncompaction 8 28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-18;2017-03-21 2 0 +1 3328580 GTCAA TTCAT 3328580 3328584 + Variant 474413 RCV000541556 SCV000654370 448008 PRDM16 NM_022114.3:c.1819_1823delGTCAAinsTTCAT NP_071397.3:p.Val607_Asn608delinsPheIle Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 31, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-05-31 1 0 1 3328611 C T 3328611 3328611 + Variant 432644 RCV000498119 SCV000590394 425365 PRDM16 NM_022114.3:c.1850C>T NP_071397.3:p.Thr617Met NM_022114.3:c.1850C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 13, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-13 1 0 1 3328638 A T 3328638 3328638 + Variant 229159 RCV000217585 SCV000272323 228441 PRDM16 NM_022114.3:c.1877A>T NP_071397.3:p.Asp626Val NM_022114.3:c.1877A>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 26, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-01-26 1 0 -1 3328643 G A 3328643 3328643 + Variant 406247 RCV000466162 SCV000544799 391230 PRDM16 NM_022114.3:c.1882G>A NP_071397.3:p.Asp628Asn NM_022114.3:c.1882G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 15, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-15 1 0 +1 3328643 G A 3328643 3328643 + Variant 406247 RCV000466162 SCV000544799 391230 PRDM16 NM_022114.3:c.1882G>A NP_071397.3:p.Asp628Asn NM_022114.3:c.1882G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 15, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-15 1 0 1 3328659 C T 3328659 3328659 + Variant 227027 RCV000221571 SCV000269724;SCV000520305 228440 PRDM16 NM_022114.3:c.1898C>T NP_071397.3:p.Pro633Leu NM_022114.3:c.1898C>T:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 23, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-23 2 0 1 3328691 G A 3328691 3328691 + Variant 392339 RCV000431315 SCV000535594 365026 PRDM16 NM_022114.3:c.1930G>A NP_071397.3:p.Glu644Lys NM_022114.3:c.1930G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 05, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-05 1 0 -1 3328723 G A 3328723 3328723 + Variant 413863 RCV000458957 SCV000556966 391179 PRDM16 NM_022114.3:c.1962G>A NP_071397.3:p.Ala654= NM_022114.3:c.1962G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 31, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-31 1 0 +1 3328722 C T 3328722 3328722 + Variant 452614 RCV000523550 SCV000621434 442826 PRDM16 NM_022114.3:c.1961C>T NP_071397.3:p.Ala654Val NM_022114.3:c.1961C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 06, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-06 1 0 +1 3328723 G A 3328723 3328723 + Variant 413863 RCV000458957 SCV000556966 391179 PRDM16 NM_022114.3:c.1962G>A NP_071397.3:p.Ala654= NM_022114.3:c.1962G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 31, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-31 1 0 1 3328726 C A 3328726 3328726 + Variant 391905 RCV000441266 SCV000535074 365030 PRDM16 NM_022114.3:c.1965C>A NP_071397.3:p.Pro655= NM_022114.3:c.1965C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 19, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-19 1 0 -1 3328733 G C 3328733 3328733 + Variant 406241 RCV000462349 SCV000544793 391192 PRDM16 NM_022114.3:c.1972G>C NP_071397.3:p.Ala658Pro NM_022114.3:c.1972G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 10, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-10 1 0 +1 3328733 G C 3328733 3328733 + Variant 406241 RCV000462349 SCV000544793 391192 PRDM16 NM_022114.3:c.1972G>C NP_071397.3:p.Ala658Pro NM_022114.3:c.1972G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 10, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-10 1 0 1 3328738 G A 3328738 3328738 + Variant 227863 RCV000215898 SCV000270753 228442 PRDM16 NM_022114.3:c.1977G>A NP_071397.3:p.Pro659= NM_022114.3:c.1977G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 11, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-11 1 0 -1 3328798 C T 3328798 3328798 + Variant 413865 RCV000461094 SCV000556972 391334 PRDM16 NM_022114.3:c.2037C>T NP_071397.3:p.Asp679= NM_022114.3:c.2037C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 30, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-30 1 0 +1 3328745 G A 3328745 3328745 + Variant 474415 RCV000529750 SCV000654372 448146 PRDM16 NM_022114.3:c.1984G>A NP_071397.3:p.Val662Met NM_022114.3:c.1984G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 06, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-07-06 1 0 +1 3328798 C T 3328798 3328798 + Variant 413865 RCV000461094 SCV000556972 391334 PRDM16 NM_022114.3:c.2037C>T NP_071397.3:p.Asp679= NM_022114.3:c.2037C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 30, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-30 1 0 1 3328821 G C 3328821 3328821 + Variant 229160 RCV000221873 SCV000272324 228443 PRDM16 NM_022114.3:c.2060G>C NP_071397.3:p.Gly687Ala NM_022114.3:c.2060G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 22, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-03-22 1 0 1 3328850 G T 3328850 3328850 + Variant 229161 RCV000214303 SCV000272325 228444 PRDM16 NM_022114.3:c.2089G>T NP_071397.3:p.Ala697Ser NM_022114.3:c.2089G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 22, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-22 1 0 -1 3328852 A T 3328852 3328852 + Variant 227028 RCV000215257;RCV000470201 SCV000269725;SCV000556959 228445 PRDM16 NM_022114.3:c.2091A>T NP_071397.3:p.Ala697= NM_022114.3:c.2091A>T:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 27, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-12-27 2 0 -1 3328861 C T 3328861 3328861 + Variant 220733 RCV000204005 SCV000261518 221096 PRDM16 NM_022114.3:c.2100C>T NP_071397.3:p.Ala700= NM_022114.3:c.2100C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 25, 2015 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-11-25 1 0 +1 3328852 A T 3328852 3328852 + Variant 227028 RCV000215257;RCV000470201 SCV000269725;SCV000556959 228445 PRDM16 NM_022114.3:c.2091A>T NP_071397.3:p.Ala697= NM_022114.3:c.2091A>T:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 11, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2017-05-11 2 0 +1 3328861 C T 3328861 3328861 + Variant 220733 RCV000204005 SCV000261518 221096 PRDM16 NM_022114.3:c.2100C>T NP_071397.3:p.Ala700= NM_022114.3:c.2100C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 25, 2015 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-11-25 1 0 1 3328865 A T 3328865 3328865 + Variant 60724 RCV000054518 SCV000082996 75284 PRDM16 NM_022114.3:c.2104A>T NP_071397.3:p.Lys702Ter NM_022114.3:c.2104A>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 11, 2013 OMIM OMIM Left ventricular noncompaction 8;LEFT VENTRICULAR NONCOMPACTION 8 23768516 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2013-07-11 0 0 1 3328887 T C 3328887 3328887 + Variant 426184 RCV000489210 SCV000576566 414795 PRDM16 NM_022114.3:c.2126T>C NP_071397.3:p.Met709Thr NM_022114.3:c.2126T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 27, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-27 1 0 -1 3328891 G A 3328891 3328891 + Variant 241424 RCV000232265 SCV000290644 238272 PRDM16 NM_022114.3:c.2130G>A NP_071397.3:p.Gly710= NM_022114.3:c.2130G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Mar 29, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-29 1 0 -1 3328903 G A 3328903 3328903 + Variant 413867 RCV000462221 SCV000556975 391195 PRDM16 NM_022114.3:c.2142G>A NP_071397.3:p.Lys714= NM_022114.3:c.2142G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 28, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-05-28 1 0 -1 3328933 G A 3328933 3328933 + Variant 391055 RCV000418130 SCV000534030 365033 PRDM16 NM_022114.3:c.2172G>A NP_071397.3:p.Ala724= NM_022114.3:c.2172G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-21 1 0 -1 3329042 G A 3329042 3329042 + Variant 406239 RCV000461410 SCV000544790 391197 PRDM16 NM_022114.3:c.2281G>A NP_071397.3:p.Ala761Thr NM_022114.3:c.2281G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-14 1 0 -1 3329051 G A 3329051 3329051 + Variant 229162 RCV000217269;RCV000226109 SCV000272326;SCV000530498;SCV000290645 228446 PRDM16 NM_022114.3:c.2290G>A NP_071397.3:p.Val764Met NM_022114.3:c.2290G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 2 0 criteria provided, conflicting interpretations criteria provided, single submitter Dec 12, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-10-20;2016-12-12;2016-10-18 1 1 -1 3329140 G A 3329140 3329140 + Variant 413873 RCV000473649 SCV000556985 391232 PRDM16 NM_022114.3:c.2379G>A NP_071397.3:p.Ser793= NM_022114.3:c.2379G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Dec 25, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-25 1 0 +1 3328891 G A 3328891 3328891 + Variant 241424 RCV000232265 SCV000290644 238272 PRDM16 NM_022114.3:c.2130G>A NP_071397.3:p.Gly710= NM_022114.3:c.2130G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Mar 29, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-29 1 0 +1 3328903 G A 3328903 3328903 + Variant 413867 RCV000462221 SCV000556975 391195 PRDM16 NM_022114.3:c.2142G>A NP_071397.3:p.Lys714= NM_022114.3:c.2142G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 28, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-05-28 1 0 +1 3328909 G A 3328909 3328909 + Variant 453110 RCV000521524 SCV000621971 442827 PRDM16 NM_022114.3:c.2148G>A NP_071397.3:p.Leu716= NM_022114.3:c.2148G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 03, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-11-03 1 0 +1 3328933 G A 3328933 3328933 + Variant 391055 RCV000418130;RCV000546769 SCV000534030;SCV000654373 365033 PRDM16 NM_022114.3:c.2172G>A NP_071397.3:p.Ala724= NM_022114.3:c.2172G>A:synonymous variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 31, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Left ventricular noncompaction 8 28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-21;2017-07-31 2 0 +1 3328948 C G 3328948 3328948 + Variant 474416 RCV000559473 SCV000654374 448154 PRDM16 NM_022114.3:c.2187C>G NP_071397.3:p.Phe729Leu NM_022114.3:c.2187C>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 08, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-05-08 1 0 +1 3328976 C G 3328976 3328976 + Variant 451225 RCV000522569 SCV000619896 442828 PRDM16 NM_022114.3:c.2215C>G NP_071397.3:p.Pro739Ala NM_022114.3:c.2215C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 14, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-14 1 0 +1 3329008 G A 3329008 3329008 + Variant 474417 RCV000530963 SCV000654375 448009 PRDM16 NM_022114.3:c.2247G>A NP_071397.3:p.Leu749= NM_022114.3:c.2247G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 09, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-02-09 1 0 +1 3329021 G A 3329021 3329021 + Variant 474418 RCV000546538 SCV000654376 448093 PRDM16 NM_022114.3:c.2260G>A NP_071397.3:p.Glu754Lys NM_022114.3:c.2260G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 17, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-05-17 1 0 +1 3329042 G A 3329042 3329042 + Variant 406239 RCV000461410 SCV000544790 391197 PRDM16 NM_022114.3:c.2281G>A NP_071397.3:p.Ala761Thr NM_022114.3:c.2281G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 15, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-06-15 1 0 +1 3329051 G A 3329051 3329051 + Variant 229162 RCV000217269;RCV000226109 SCV000272326;SCV000530498;SCV000290645 228446 PRDM16 NM_022114.3:c.2290G>A NP_071397.3:p.Val764Met NM_022114.3:c.2290G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 2 0 criteria provided, conflicting interpretations criteria provided, single submitter Aug 31, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-10-20;2017-08-31;2017-07-28 1 1 +1 3329057 G A 3329057 3329057 + Variant 474419 RCV000558931 SCV000654377 448156 PRDM16 NM_022114.3:c.2296G>A NP_071397.3:p.Gly766Ser NM_022114.3:c.2296G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 17, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-03-17 1 0 +1 3329140 G A 3329140 3329140 + Variant 413873 RCV000473649 SCV000556985 391232 PRDM16 NM_022114.3:c.2379G>A NP_071397.3:p.Ser793= NM_022114.3:c.2379G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Feb 22, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-02-22 1 0 1 3329147 G A 3329147 3329147 + Variant 424068 RCV000478115 SCV000573845 405162 PRDM16 NM_022114.3:c.2386G>A NP_071397.3:p.Ala796Thr NM_022114.3:c.2386G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 10, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-10 1 0 -1 3329167 G A 3329167 3329167 + Variant 390010 RCV000438891 SCV000532721 365036 PRDM16 NM_022114.3:c.2406G>A NP_071397.3:p.Pro802= NM_022114.3:c.2406G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 14, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-14 1 0 -1 3329195 C T 3329195 3329195 + Variant 229163 RCV000221476 SCV000272327 228447 PRDM16 NM_022114.3:c.2434C>T NP_071397.3:p.Arg812Cys NM_022114.3:c.2434C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 02, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-02 1 0 -1 3329204 C T 3329204 3329204 + Variant 406222 RCV000468700 SCV000544765 391182 PRDM16 NM_022114.3:c.2443C>T NP_071397.3:p.Gln815Ter NM_022114.3:c.2443C>T:nonsense Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 24, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-04-24 1 0 -1 3329208 A G 3329208 3329208 + Variant 60726 RCV000054520 SCV000082998 75286 PRDM16 NM_022114.3:c.2447A>G NP_071397.3:p.Asn816Ser NM_022114.3:c.2447A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 11, 2013 OMIM OMIM Left ventricular noncompaction 8;LEFT VENTRICULAR NONCOMPACTION 8 23768516 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2013-07-11 0 0 -1 3329209 C T 3329209 3329209 + Variant 388234 RCV000421212;RCV000471531 SCV000530495;SCV000556976 365129 PRDM16 NM_022114.3:c.2448C>T NP_071397.3:p.Asn816= NM_022114.3:c.2448C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 24, 2017 GeneDx;Invitae, GeneDx;Invitae, not specified;Left ventricular noncompaction 8 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-04-24;2016-10-09 2 0 -1 3329210 G A 3329210 3329210 + Variant 241425 RCV000230075 SCV000290646 238273 PRDM16 NM_022114.3:c.2449G>A NP_071397.3:p.Gly817Ser NM_022114.3:c.2449G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 15, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-02-15 1 0 -1 3329213 G A 3329213 3329213 + Variant 241426 RCV000232966;RCV000418666 SCV000290647;SCV000532573 238274 PRDM16 NM_022114.3:c.2452G>A NP_071397.3:p.Gly818Ser NM_022114.3:c.2452G>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 16, 2017 Invitae,;GeneDx Invitae,;GeneDx Left ventricular noncompaction 8;not specified germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 2017-01-16;2016-10-11 2 0 -1 3329228 C T 3329228 3329228 + Variant 406245 RCV000471354 SCV000544797 391233 PRDM16 NM_022114.3:c.2467C>T NP_071397.3:p.Arg823Cys NM_022114.3:c.2467C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 07, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-07 1 0 -1 3329229 G C 3329229 3329229 + Variant 227865 RCV000223185;RCV000226799 SCV000533889;SCV000270755;SCV000290648 228448 PRDM16 NM_022114.3:c.2468G>C NP_071397.3:p.Arg823Pro NM_022114.3:c.2468G>C:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 26, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266;26350513 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-01-13;2017-05-26;2017-01-04 2 0 -1 3329263 C T 3329263 3329263 + Variant 227029 RCV000219694 SCV000269726;SCV000520302 228449 PRDM16 NM_022114.3:c.2502C>T NP_071397.3:p.Gly834= NM_022114.3:c.2502C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Oct 06, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-11;2016-10-06 2 0 -1 3329267 G A 3329267 3329267 + Variant 227030 RCV000221333;RCV000469328 SCV000269727;SCV000556970 228450 PRDM16 NM_022114.3:c.2506G>A NP_071397.3:p.Gly836Ser NM_022114.3:c.2506G>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 12, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-09-12 2 0 -1 3329297 C T 3329297 3329297 + Variant 406238 RCV000476374 SCV000544789 391237 PRDM16 NM_022114.3:c.2536C>T NP_071397.3:p.Arg846Trp NM_022114.3:c.2536C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 03, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 1 0 -1 3329337 C T 3329337 3329337 + Variant 229164 RCV000215161;RCV000468206 SCV000492137;SCV000272328;SCV000544791 228451 PRDM16 NM_022114.3:c.2576C>T NP_071397.3:p.Ser859Leu NM_022114.3:c.2576C>T:missense variant Uncertain significance uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 28, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-06-10;2016-11-28;2016-04-07 2 0 -1 3329384 C T 3329384 3329384 + Variant 381194 RCV000433986 SCV000520306 365234 PRDM16 NM_022114.3:c.2603+20C>T NM_022114.3:c.2603+20C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Sep 23, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-23 1 0 -1 3331154 C T 3331154 3331154 + Variant 227866 RCV000216924;RCV000469880 SCV000530820;SCV000270756;SCV000556979 228452 PRDM16 NM_022114.3:c.2634C>T NP_071397.3:p.Pro878= NM_022114.3:c.2634C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 25, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-10-22;2017-04-25;2017-01-10 2 0 -1 3331155 G A 3331155 3331155 + Variant 432243 RCV000498032 SCV000589953 425366 PRDM16 NM_022114.3:c.2635G>A NP_071397.3:p.Val879Met NM_022114.3:c.2635G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 05, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-05 1 0 -1 3331166 G A 3331166 3331166 + Variant 413866 RCV000467739 SCV000556973 391194 PRDM16 NM_022114.3:c.2646G>A NP_071397.3:p.Leu882= NM_022114.3:c.2646G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-26 1 0 -1 3331180 T C 3331180 3331180 + Variant 60729 RCV000054523 SCV000083001 75289 PRDM16 NM_022114.3:c.2660T>C NP_071397.3:p.Leu887Pro NM_022114.3:c.2660T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 11, 2013 OMIM OMIM Dilated cardiomyopathy 1LL;CARDIOMYOPATHY, DILATED, 1LL 23768516 germline MedGen:CN178850;OMIM:615373 2013-07-11 0 0 -1 3331193 G A 3331193 3331193 + Variant 227031 RCV000215017;RCV000475588 SCV000525688;SCV000269728;SCV000556954 228453 PRDM16 NM_022114.3:c.2673G>A NP_071397.3:p.Pro891= NM_022114.3:c.2673G>A:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 23, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-10-11;2016-10-23 2 0 -1 3331216 G A 3331216 3331216 + Variant 390179 RCV000437038 SCV000532947 365238 PRDM16 NM_022114.3:c.2691+5G>A NM_022114.3:c.2691+5G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-21 1 0 -1 3334382 A G 3334382 3334382 + Variant 390108 RCV000434063;RCV000457891 SCV000532849;SCV000556963 365235 PRDM16 NM_022114.3:c.2692-10A>G NM_022114.3:c.2692-10A>G:intron variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 19, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Left ventricular noncompaction 8 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-19;2016-06-21 2 0 -1 3334441 T C 3334441 3334441 + Variant 241427 RCV000229654;RCV000493075 SCV000290649;SCV000582942 238275 PRDM16 NM_022114.3:c.2741T>C NP_071397.3:p.Met914Thr NM_022114.3:c.2741T>C:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 14, 2016 Invitae,;GeneDx Invitae,;GeneDx Left ventricular noncompaction 8;not specified germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 2015-12-17;2016-12-14 2 0 -1 3334447 C T 3334447 3334447 + Variant 218791 RCV000203205 SCV000258183 215209 PRDM16 NM_022114.3:c.2747C>T NP_071397.3:p.Ala916Val NM_022114.3:c.2747C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Apr 12, 2015 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;Not specified unknown MedGen:CN169374 2015-04-12 1 0 -1 3334480 A C 3334480 3334480 + Variant 373755 RCV000413206 SCV000492376 359242 PRDM16 NM_022114.3:c.2780A>C NP_071397.3:p.His927Pro NM_022114.3:c.2780A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 09, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-09 1 0 -1 3334486 C A 3334486 3334486 + Variant 229165 RCV000219521 SCV000577100;SCV000272329 228454 PRDM16 NM_022114.3:c.2786C>A NP_071397.3:p.Pro929His NM_022114.3:c.2786C>A:missense variant Uncertain significance uncertain significance;uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Apr 11, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-21;2017-04-11 2 0 -1 3334493 C T 3334493 3334493 + Variant 227032 RCV000219295;RCV000233639 SCV000531702;SCV000269729;SCV000290650 228455 PRDM16 NM_022114.3:c.2793C>T NP_071397.3:p.Asn931= NM_022114.3:c.2793C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 18, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-10-10;2017-01-18 2 0 -1 3334505 A ACC 3334509 3334510 + Variant 229166 RCV000221072 SCV000272330 228456 PRDM16 NM_022114.3:c.2809_2810dupCC NP_071397.3:p.Thr938Glnfs NM_022114.3:c.2809_2810dupCC:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 02, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-03-02 1 0 -1 3334509 C G 3334509 3334509 + Variant 406243 RCV000475724 SCV000544795 391199 PRDM16 NM_022114.3:c.2809C>G NP_071397.3:p.Pro937Ala NM_022114.3:c.2809C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 30, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-30 1 0 -1 3334513 C T 3334513 3334513 + Variant 406242 RCV000471782 SCV000544794 391196 PRDM16 NM_022114.3:c.2813C>T NP_071397.3:p.Thr938Met NM_022114.3:c.2813C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 02, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-02 1 0 -1 3334515 C G 3334515 3334515 + Variant 373801 RCV000414615;RCV000474992 SCV000492424;SCV000556974 359349 PRDM16 NM_022114.3:c.2815C>G NP_071397.3:p.Leu939Val NM_022114.3:c.2815C>G:missense variant Conflicting interpretations of pathogenicity uncertain significance;benign 0 0 1 0 1 criteria provided, conflicting interpretations criteria provided, single submitter Dec 14, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Left ventricular noncompaction 8 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-14;2016-05-22 1 1 -1 3334556 G A 3334556 3334556 + Variant 227867 RCV000219939 SCV000270757 228457 PRDM16 NM_022114.3:c.2856G>A NP_071397.3:p.Thr952= NM_022114.3:c.2856G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 21, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-21 1 0 -1 3342127 C T 3342127 3342127 + Variant 392369 RCV000419766 SCV000535630 365132 PRDM16 NM_022114.3:c.2940-18C>T NM_022114.3:c.2940-18C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 05, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-05 1 0 -1 3342128 G A 3342128 3342128 + Variant 386315 RCV000441639 SCV000527895 365137 PRDM16 NM_022114.3:c.2940-17G>A NM_022114.3:c.2940-17G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Sep 28, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-28 1 0 -1 3342130 G A 3342130 3342130 + Variant 229167 RCV000214743 SCV000272331 228458 PRDM16 NM_022114.3:c.2940-15G>A NM_022114.3:c.2940-15G>A:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 23, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-23 1 0 -1 3342158 G A 3342158 3342158 + Variant 373270 RCV000413640 SCV000491853 359356 PRDM16 NM_022114.3:c.2953G>A NP_071397.3:p.Asp985Asn NM_022114.3:c.2953G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-21 1 0 -1 3342307 C T 3342307 3342307 + Variant 241428 RCV000226908;RCV000444388 SCV000290651;SCV000521409 238276 PRDM16 NM_022114.3:c.3102C>T NP_071397.3:p.Asn1034= NM_022114.3:c.3102C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 23, 2017 Invitae,;GeneDx Invitae,;GeneDx Left ventricular noncompaction 8;not specified germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 2016-10-08;2017-06-23 2 0 -1 3342324 G A 3342324 3342324 + Variant 227033 RCV000223403;RCV000460045 SCV000269730;SCV000529354;SCV000556969 228459 PRDM16 NM_022114.3:c.3109+10G>A NM_022114.3:c.3109+10G>A:intron variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 18, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-12-05;2017-01-18 2 0 -1 3342326 G C 3342326 3342326 + Variant 227868 RCV000213653 SCV000270758;SCV000525750 228460 PRDM16 NM_022114.3:c.3109+12G>C NM_022114.3:c.3109+12G>C:intron variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Oct 27, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-07-08;2016-10-27 2 0 -1 3342611 G A 3342611 3342611 + Variant 227869 RCV000217996;RCV000465584 SCV000270759;SCV000556967 228461 PRDM16 NM_022114.3:c.3110-4G>A NM_022114.3:c.3110-4G>A:intron variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 15, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-04-16;2016-07-15 2 0 -1 3342629 G A 3342629 3342629 + Variant 426514 RCV000490016 SCV000576974 414796 PRDM16 NM_022114.3:c.3124G>A NP_071397.3:p.Gly1042Arg NM_022114.3:c.3124G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 13, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-13 1 0 -1 3342634 C T 3342634 3342634 + Variant 241429 RCV000230873 SCV000290652 238277 PRDM16 NM_022114.3:c.3129C>T NP_071397.3:p.Val1043= NM_022114.3:c.3129C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 25, 2015 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-11-25 1 0 -1 3342635 C T 3342635 3342635 + Variant 227034 RCV000215790;RCV000232612 SCV000269731;SCV000528022;SCV000290653 228462 PRDM16 NM_022114.3:c.3130C>T NP_071397.3:p.Leu1044Phe NM_022114.3:c.3130C>T:missense variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 27, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-12-27;2016-04-16 2 0 -1 3342640 G A 3342640 3342640 + Variant 227870 RCV000220998 SCV000270760 228463 PRDM16 NM_022114.3:c.3135G>A NP_071397.3:p.Thr1045= NM_022114.3:c.3135G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 06, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-05-06 1 0 -1 3342644 C A 3342644 3342644 + Variant 423292 RCV000486279 SCV000572969 405163 PRDM16 NM_022114.3:c.3139C>A NP_071397.3:p.His1047Asn NM_022114.3:c.3139C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 06, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-06 1 0 -1 3342774 C T 3342774 3342774 + Variant 241430 RCV000227583 SCV000290654 238278 PRDM16 NM_022114.3:c.3269C>T NP_071397.3:p.Thr1090Met NM_022114.3:c.3269C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 12, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-12 1 0 -1 3342775 G A 3342775 3342775 + Variant 413871 RCV000458810 SCV000556983 391340 PRDM16 NM_022114.3:c.3270G>A NP_071397.3:p.Thr1090= NM_022114.3:c.3270G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-26 1 0 -1 3342804 G T 3342804 3342804 + Variant 227035 RCV000218772 SCV000520303;SCV000269732 228464 PRDM16 NM_022114.3:c.3284+15G>T NM_022114.3:c.3284+15G>T:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 23, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-23 2 0 -1 3347452 G A 3347452 3347452 + Variant 60727 RCV000054521;RCV000204421;RCV000223010 SCV000082999;SCV000262005;SCV000269733 75287 PRDM16 NM_022114.3:c.3301G>A NP_071397.3:p.Val1101Met NM_022114.3:c.3301G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;benign 0 0 1 0 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Dec 02, 2016 OMIM;Invitae,;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine OMIM;Invitae,;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Dilated cardiomyopathy 1LL;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE;Left ventricular noncompaction 8;not specified;Not specified 23768516;27535533;24033266 germline MedGen:CN178850;OMIM:615373;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;Orphanet:154;Orphanet:54260;MedGen:CN169374 2013-07-11;2015-10-31;2015-04-29 1 1 -1 3347514 G GGAC 3347520 3347522 + Variant 413868 RCV000475206 SCV000556977 391341 PRDM16 NM_022114.3:c.3369_3371dupCGA NP_071397.3:p.Asp1125_Leu1126insAsp Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 14, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-14 1 0 -1 3347517 C T 3347517 3347517 + Variant 227871 RCV000213381 SCV000270761 228465 PRDM16 NM_022114.3:c.3366C>T NP_071397.3:p.Asp1122= NM_022114.3:c.3366C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 13, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-08-13 1 0 -1 3347520 C T 3347520 3347520 + Variant 227036 RCV000216881;RCV000230406 SCV000529327;SCV000269734;SCV000290655 228466 PRDM16 NM_022114.3:c.3369C>T NP_071397.3:p.Asp1123= NM_022114.3:c.3369C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 06, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-10-06;2016-09-16 2 0 -1 3347593 G A 3347593 3347593 + Variant 406233 RCV000460254 SCV000544784 391240 PRDM16 NM_022114.3:c.3442G>A NP_071397.3:p.Glu1148Lys NM_022114.3:c.3442G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 18, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-18 1 0 -1 3347595 G A 3347595 3347595 + Variant 413862 RCV000464489 SCV000556964 391206 PRDM16 NM_022114.3:c.3444G>A NP_071397.3:p.Glu1148= NM_022114.3:c.3444G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 30, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-30 1 0 -1 3347605 G A 3347605 3347605 + Variant 406235 RCV000473925 SCV000544786 391207 PRDM16 NM_022114.3:c.3454G>A NP_071397.3:p.Ala1152Thr NM_022114.3:c.3454G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 16, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-16 1 0 -1 3348629 A T 3348629 3348629 + Variant 241431 RCV000234393 SCV000290656 238279 PRDM16 NM_022114.3:c.3621A>T NP_071397.3:p.Glu1207Asp NM_022114.3:c.3621A>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 24, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-02-24 1 0 -1 3348695 T C 3348695 3348695 + Variant 227037 RCV000219826 SCV000269735;SCV000533646 228467 PRDM16 NM_022114.3:c.3687T>C NP_071397.3:p.Ala1229= NM_022114.3:c.3687T>C:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Nov 11, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-11-11 2 0 -1 3348715 G A 3348715 3348715 + Variant 390334 RCV000438994 SCV000533136 365138 PRDM16 NM_022114.3:c.3696+11G>A NM_022114.3:c.3696+11G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 25, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-25 1 0 -1 3350294 C T 3350294 3350294 + Variant 413860 RCV000456779 SCV000556960 391209 PRDM16 NM_022114.3:c.3750C>T NP_071397.3:p.Ser1250= NM_022114.3:c.3750C>T:synonymous variant;NM_199454.2:c.3697-4C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 03, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 1 0 -1 3350377 G A 3350377 3350377 + Variant 389898 RCV000440648 SCV000532578 365038 PRDM16 NM_022114.3:c.*2G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 12, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-12 1 0 -1 3732936 T C 3732936 3732936 - Variant 221277 RCV000207283 SCV000262599 222988 CEP104 NM_014704.3:c.2572-2A>G NM_014704.3:c.2572-2A>G:splice acceptor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 02, 2016 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 0 0 -1 3751643 T TA 3751645 3751646 - Variant 221275 RCV000207071 SCV000262597 222986 CEP104 NM_014704.3:c.1328_1329insT NP_055519.1:p.Tyr444Leufs NM_014704.3:c.1328_1329insT:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 02, 2016 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 0 0 -1 3756170 A G 3756170 3756170 - Variant 221274 RCV000207253 SCV000262596 222985 CEP104 NM_014704.3:c.735+2T>C NM_014704.3:c.735+2T>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 02, 2016 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546;7 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 0 0 -1 3761541 G A 3761541 3761541 - Variant 221276 RCV000207197 SCV000262598 222987 CEP104 NM_014704.3:c.496C>T NP_055519.1:p.Arg166Ter NM_014704.3:c.496C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 02, 2016 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 0 0 -1 3768922 TC T 3768923 3768923 - Variant 434718 RCV000501850 SCV000594034 427813 CEP104 NM_014704.3:c.49delG NP_055519.1:p.Asp17Thrfs NM_014704.3:c.49delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Mar 29, 2017 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago Joubert syndrome 25;Joubert syndrome 25 20301500;25741868 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2017-03-29 1 0 -1 5923011 A C 5923011 5923011 - Variant 297781 RCV000273736;RCV000332696 SCV000358382;SCV000358383 283011 NPHP4 NM_015102.4:c.*314T>G NM_015102.4:c.*314T>G:3 prime UTR variant;NR_111987.1:n.5410T>G:non-coding transcript variant Likely benign likely benign 0 0 0 2 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5923197 T G 5923197 5923197 - Variant 297782 RCV000260041;RCV000389549 SCV000358385;SCV000358384 281526 NPHP4 NM_015102.4:c.*128A>C NM_015102.4:c.*128A>C:3 prime UTR variant;NR_111987.1:n.5224A>C:non-coding transcript variant Likely benign likely benign 0 0 0 2 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5923299 G A 5923299 5923299 - Variant 297783 RCV000317634;RCV000374332 SCV000358386;SCV000358387 280972 NPHP4 NM_015102.4:c.*26C>T NM_015102.4:c.*26C>T:3 prime UTR variant;NR_111987.1:n.5122C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5923369 C T 5923369 5923369 - Variant 297784 RCV000282410;RCV000339705 SCV000358388;SCV000358389;SCV000556435 282746 NPHP4 NM_015102.4:c.4237G>A NP_055917.1:p.Asp1413Asn NM_015102.4:c.4237G>A:missense variant;NR_111987.1:n.5052G>A:non-coding transcript variant Conflicting interpretations of pathogenicity uncertain significance;benign 0 0 2 0 1 criteria provided, conflicting interpretations criteria provided, single submitter Oct 05, 2016 Illumina Clinical Services Laboratory,Illumina;Invitae, Illumina Clinical Services Laboratory,Illumina;Invitae, Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14;2016-10-05 1 1 -1 5923427 A T 5923427 5923427 - Variant 95686 RCV000081719;RCV000476917 SCV000113650;SCV000544234 101583 NPHP4 NM_015102.4:c.4179T>A NP_055917.1:p.Phe1393Leu NM_015102.4:c.4179T>A:missense variant;NR_111987.1:n.4994T>A:non-coding transcript variant Conflicting interpretations of pathogenicity benign;uncertain significance 0 0 1 0 1 criteria provided, conflicting interpretations criteria provided, single submitter Apr 11, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, not specified;Nephronophthisis 23757202;0;2;27004616;27336129;95686 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2013-02-22;2016-04-11 1 1 -1 5923461 C T 5923461 5923461 - Variant 196631 RCV000177474 SCV000229335 193792 NPHP4 NM_015102.4:c.4145G>A NP_055917.1:p.Gly1382Glu NM_015102.4:c.4145G>A:missense variant;NR_111987.1:n.4960G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 11, 2014 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2014-07-11 1 0 -1 5923463 G A 5923463 5923463 - Variant 288025 RCV000266655 SCV000342005 272262 NPHP4 NM_015102.4:c.4143C>T NP_055917.1:p.Val1381= NM_015102.4:c.4143C>T:synonymous variant;NR_111987.1:n.4958C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 12, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-05-12 1 0 -1 5923476 G A 5923476 5923476 - Variant 260560 RCV000246011;RCV000286079;RCV000377961 SCV000312395;SCV000358391;SCV000358390 249993 NPHP4 NM_015102.4:c.4141-11C>T NM_015102.4:c.4141-11C>T:intron variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 2 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 PreventionGenetics;Illumina Clinical Services Laboratory,Illumina PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 25741868;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 0000-00-00;2016-06-14 1 1 -1 5923976 G A 5923976 5923976 - Variant 215887 RCV000198249;RCV000407300 SCV000358392;SCV000253534;SCV000358393 212105 NPHP4 NM_015102.4:c.4114C>T NP_055917.1:p.Leu1372= NM_015102.4:c.4114C>T:synonymous variant;NR_111987.1:n.4929C>T:non-coding transcript variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 2 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 Invitae,;Illumina Clinical Services Laboratory,Illumina Invitae,;Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2015-08-31;2016-06-14 1 1 -1 5924015 G A 5924015 5924015 - Variant 190975 RCV000171146;RCV000308383;RCV000346948 SCV000221342;SCV000358394;SCV000358395 188781 NPHP4 NM_015102.4:c.4075C>T NP_055917.1:p.Arg1359Trp NM_015102.4:c.4075C>T:missense variant;NR_111987.1:n.4890C>T:non-coding transcript variant Conflicting interpretations of pathogenicity likely pathogenic;uncertain significance 0 1 2 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;Illumina Clinical Services Laboratory,Illumina Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;Illumina Clinical Services Laboratory,Illumina not provided;Not provided;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 25741868;27336129 germline MedGen:CN221809;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 0000-00-00;2016-06-14 1 1 -1 5924056 C T 5924056 5924056 - Variant 291157 RCV000312005;RCV000391142;RCV000407270 SCV000358397;SCV000345863;SCV000358396 275394 NPHP4 NM_015102.4:c.4034G>A NP_055917.1:p.Gly1345Asp NM_015102.4:c.4034G>A:missense variant;NR_111987.1:n.4849G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 08, 2016 Illumina Clinical Services Laboratory,Illumina;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Illumina Clinical Services Laboratory,Illumina;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Nephronophthisis;not specified;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;MedGen:CN169374;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14;2016-09-08 2 0 -1 5924410 C T 5924410 5924410 - Variant 215886 RCV000196648 SCV000253533 212106 NPHP4 NM_015102.4:c.3984G>A NP_055917.1:p.Pro1328= NM_015102.4:c.3984G>A:synonymous variant;NR_111987.1:n.4799G>A:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 16, 2015 Invitae, Invitae, Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2015-03-16 1 0 -1 5924430 A C 5924430 5924430 - Variant 297785 RCV000276833;RCV000369051 SCV000358399;SCV000358398 282749 NPHP4 NM_015102.4:c.3964T>G NP_055917.1:p.Cys1322Gly NM_015102.4:c.3964T>G:missense variant;NR_111987.1:n.4779T>G:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5924434 G A 5924434 5924434 - Variant 282577 RCV000315514;RCV000353114;RCV000353952 SCV000358400;SCV000334112;SCV000358401 266814 NPHP4 NM_015102.4:c.3960C>T NP_055917.1:p.Leu1320= NM_015102.4:c.3960C>T:synonymous variant;NR_111987.1:n.4775C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Illumina Clinical Services Laboratory,Illumina;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Nephronophthisis;not specified;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;MedGen:CN169374;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14;2015-08-21 2 0 -1 5924467 G A 5924467 5924467 - Variant 196137 RCV000176883 SCV000228641 193298 NPHP4 NM_015102.4:c.3927C>T NP_055917.1:p.Asp1309= NM_015102.4:c.3927C>T:synonymous variant;NR_111987.1:n.4742C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 23, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-04-23 1 0 -1 5924483 T C 5924483 5924483 - Variant 196138 RCV000176884 SCV000228642 193299 NPHP4 NM_015102.4:c.3911A>G NP_055917.1:p.His1304Arg NM_015102.4:c.3911A>G:missense variant;NR_111987.1:n.4726A>G:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 26, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-07-26 1 0 -1 5924518 G A 5924518 5924518 - Variant 95685 RCV000081718;RCV000205951;RCV000261468 SCV000113649;SCV000312394;SCV000358403;SCV000261008;SCV000358402 101582 NPHP4 NM_015102.4:c.3876C>T NP_055917.1:p.Gly1292= NM_015102.4:c.3876C>T:synonymous variant;NR_111987.1:n.4691C>T:non-coding transcript variant Conflicting interpretations of pathogenicity benign;uncertain significance 0 0 2 0 3 criteria provided, conflicting interpretations criteria provided, single submitter Sep 09, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae,;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Invitae,;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 23757202;25741868;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2013-04-11;0000-00-00;2016-09-09;2016-06-14 1 1 -1 5924530 G A 5924530 5924530 - Variant 297786 RCV000264957;RCV000375871 SCV000358405;SCV000358404 280973 NPHP4 NM_015102.4:c.3864C>T NP_055917.1:p.Asp1288= NM_015102.4:c.3864C>T:synonymous variant;NR_111987.1:n.4679C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5924541 C G 5924541 5924541 - Variant 432503 RCV000497853 SCV000590236 425380 NPHP4 NM_015102.4:c.3853G>C NP_055917.1:p.Gly1285Arg NM_015102.4:c.3853G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 08, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-08 1 0 -1 5924543 C T 5924543 5924543 - Variant 286996 RCV000395711;RCV000477226 SCV000340619;SCV000556430 271233 NPHP4 NM_015102.4:c.3851G>A NP_055917.1:p.Arg1284His NM_015102.4:c.3851G>A:missense variant;NR_111987.1:n.4666G>A:non-coding transcript variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Sep 20, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-04-23;2016-09-20 1 1 -1 5924551 C A 5924551 5924551 - Variant 167370 RCV000153582 SCV000203120 177882 NPHP4 NM_015102.4:c.3843G>T NP_055917.1:p.Leu1281= NM_015102.4:c.3843G>T:synonymous variant;NR_111987.1:n.4658G>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-11 1 0 -1 5924557 G A 5924557 5924557 - Variant 167371 RCV000153583;RCV000199892 SCV000203121;SCV000253532 177883 NPHP4 NM_015102.4:c.3837C>T NP_055917.1:p.Phe1279= NM_015102.4:c.3837C>T:synonymous variant;NR_111987.1:n.4652C>T:non-coding transcript variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14;2015-01-18 1 1 -1 5925201 C T 5925201 5925201 - Variant 287096 RCV000278432;RCV000322356;RCV000379124 SCV000340760;SCV000358406;SCV000358407 271333 NPHP4 NM_015102.4:c.3777G>A NP_055917.1:p.Arg1259= NM_015102.4:c.3777G>A:synonymous variant;NR_111987.1:n.4592G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina not specified;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-07;2016-06-14 2 0 -1 5925216 C A 5925216 5925216 - Variant 297787 RCV000287037;RCV000344394 SCV000358408;SCV000358409 281527 NPHP4 NM_015102.4:c.3762G>T NP_055917.1:p.Gly1254= NM_015102.4:c.3762G>T:synonymous variant;NR_111987.1:n.4577G>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5925220 C T 5925220 5925220 - Variant 297788 RCV000290652;RCV000382692 SCV000358411;SCV000358410 281535 NPHP4 NM_015102.4:c.3758G>A NP_055917.1:p.Arg1253Gln NM_015102.4:c.3758G>A:missense variant;NR_111987.1:n.4573G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5925221 G A 5925221 5925221 - Variant 286539 RCV000310947 SCV000340019 270776 NPHP4 NM_015102.4:c.3757C>T NP_055917.1:p.Arg1253Trp NM_015102.4:c.3757C>T:missense variant;NR_111987.1:n.4572C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 25, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-02-25 1 0 -1 5925224 G A 5925224 5925224 - Variant 95684 RCV000081717 SCV000113648 101581 NPHP4 NM_015102.4:c.3754C>T NP_055917.1:p.Leu1252Phe NM_015102.4:c.3754C>T:missense variant;NR_111987.1:n.4569C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 09, 2013 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified 23757202 germline MedGen:CN169374 2013-01-09 1 0 -1 5925255 G A 5925255 5925255 - Variant 297789 RCV000347891;RCV000401689 SCV000358412;SCV000358413 283015 NPHP4 NM_015102.4:c.3723C>T NP_055917.1:p.Val1241= NM_015102.4:c.3723C>T:synonymous variant;NR_111987.1:n.4538C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5925273 G A 5925273 5925273 - Variant 297790 RCV000312869;RCV000352075 SCV000358414;SCV000358415 281536 NPHP4 NM_015102.4:c.3705C>T NP_055917.1:p.Arg1235= NM_015102.4:c.3705C>T:synonymous variant;NR_111987.1:n.4520C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5925275 G A 5925275 5925275 - Variant 297791 RCV000298425;RCV000407610 SCV000358417;SCV000358416 282757 NPHP4 NM_015102.4:c.3703C>T NP_055917.1:p.Arg1235Cys NM_015102.4:c.3703C>T:missense variant;NR_111987.1:n.4518C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5925304 G A 5925304 5925304 - Variant 196032 RCV000176754;RCV000231868 SCV000228463;SCV000290057 193193 NPHP4 NM_015102.4:c.3674C>T NP_055917.1:p.Thr1225Met NM_015102.4:c.3674C>T:missense variant;NR_111987.1:n.4489C>T:non-coding transcript variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 20, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2014-10-07;2016-01-20 2 0 -1 5925348 G A 5925348 5925348 - Variant 297792 RCV000263212;RCV000355588 SCV000358419;SCV000358418 283017 NPHP4 NM_015102.4:c.3645-15C>T NM_015102.4:c.3645-15C>T:intron variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5925371 G A 5925371 5925371 - Variant 260559 RCV000248599 SCV000312393 249994 NPHP4 NM_015102.4:c.3645-38C>T NM_015102.4:c.3645-38C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5926465 C T 5926465 5926465 - Variant 297793 RCV000302018;RCV000359177 SCV000358420;SCV000358421 283018 NPHP4 NM_015102.4:c.3612G>A NP_055917.1:p.Pro1204= NM_015102.4:c.3612G>A:synonymous variant;NR_111987.1:n.4427G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5926502 C T 5926502 5926502 - Variant 195976 RCV000176676 SCV000228367 193137 NPHP4 NM_015102.4:c.3575G>A NP_055917.1:p.Arg1192Gln NM_015102.4:c.3575G>A:missense variant;NR_111987.1:n.4390G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 17, 2014 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2014-10-17 1 0 -1 5926503 G A 5926503 5926503 - Variant 188389 RCV000168448;RCV000271940 SCV000219145;SCV000343499 185958 NPHP4 NM_015102.4:c.3574C>T NP_055917.1:p.Arg1192Trp NM_015102.4:c.3574C>T:missense variant;NR_111987.1:n.4389C>T:non-coding transcript variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Jun 30, 2016 Invitae,;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Invitae,;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Nephronophthisis;not specified 0;15776426;22550138;27336129;3574;4;26346198 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;MedGen:CN169374 2014-10-07;2016-06-30 1 1 -1 5926507 T C 5926507 5926507 - Variant 95683 RCV000081716;RCV000266333;RCV000324301 SCV000312392;SCV000113647;SCV000358422;SCV000358423 101580 NPHP4 NM_015102.4:c.3570A>G NP_055917.1:p.Glu1190= NM_015102.4:c.3570A>G:synonymous variant;NR_111987.1:n.4385A>G:non-coding transcript variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 23757202;25741868;27336129 germline MedGen:CN169374;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2013-10-01;0000-00-00;2016-06-14 2 0 -1 5926536 AG A 5926537 5926537 - Variant 260558 RCV000253685 SCV000312391 249995 NPHP4 NM_015102.4:c.3559-19delC NM_015102.4:c.3559-19delC:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5927122 C T 5927122 5927122 - Variant 426852 RCV000489565 SCV000577407 414804 NPHP4 NM_015102.4:c.3526G>A NP_055917.1:p.Asp1176Asn NM_015102.4:c.3526G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 30, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-30 1 0 -1 5927130 C T 5927130 5927130 - Variant 297794 RCV000270302;RCV000362620 SCV000358425;SCV000358424 283019 NPHP4 NM_015102.4:c.3518G>A NP_055917.1:p.Arg1173His NM_015102.4:c.3518G>A:missense variant;NR_111987.1:n.4333G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5927169 G A 5927169 5927169 - Variant 220304 RCV000205285;RCV000248751;RCV000384533 SCV000260746;SCV000358426;SCV000312390;SCV000358427 221109 NPHP4 NM_015102.4:c.3479C>T NP_055917.1:p.Pro1160Leu NM_015102.4:c.3479C>T:missense variant;NR_111987.1:n.4294C>T:non-coding transcript variant Conflicting interpretations of pathogenicity benign;uncertain significance 0 0 2 0 2 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 Invitae,;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics Invitae,;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics Nephronophthisis;not specified;NOT SPECIFIED;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129;25741868 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;MedGen:CN169374;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-02-01;2016-06-14;0000-00-00 1 1 -1 5927191 T C 5927191 5927191 - Variant 260557 RCV000243373 SCV000312389 249996 NPHP4 NM_015102.4:c.3473-16A>G NM_015102.4:c.3473-16A>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5927794 A G 5927794 5927794 - Variant 260556 RCV000251356 SCV000312388 249997 NPHP4 NM_015102.4:c.3472+6T>C NM_015102.4:c.3472+6T>C:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5927818 G A 5927818 5927818 - Variant 195828 RCV000176491 SCV000228157 192989 NPHP4 NM_015102.4:c.3454C>T NP_055917.1:p.Pro1152Ser NM_015102.4:c.3454C>T:missense variant;NR_111987.1:n.4269C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2014 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2014-08-11 1 0 -1 5927827 G A 5927827 5927827 - Variant 287251 RCV000353388 SCV000340959 271488 NPHP4 NM_015102.4:c.3445C>T NP_055917.1:p.Arg1149Cys NM_015102.4:c.3445C>T:missense variant;NR_111987.1:n.4260C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 29, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-03-29 1 0 -1 5927887 C T 5927887 5927887 - Variant 289977 RCV000281891 SCV000344447 274214 NPHP4 NM_015102.4:c.3385G>A NP_055917.1:p.Val1129Met NM_015102.4:c.3385G>A:missense variant;NR_111987.1:n.4200G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 02, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-02 1 0 -1 5927943 G A 5927943 5927943 - Variant 95682 RCV000081715;RCV000292444;RCV000331197 SCV000513952;SCV000113646;SCV000556431;SCV000358428;SCV000358429 101579 NPHP4 NM_015102.4:c.3329C>T NP_055917.1:p.Ala1110Val NM_015102.4:c.3329C>T:missense variant;NR_111987.1:n.4144C>T:non-coding transcript variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 4 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jul 18, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae,;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Illumina Clinical Services Laboratory,Illumina;Invitae, not specified;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 23757202;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-03-10;2016-05-19;2016-06-14;2016-07-18 1 1 -1 5933280 C T 5933280 5933280 - Variant 260555 RCV000246810 SCV000312387 249998 NPHP4 NM_015102.4:c.3315+32G>A NM_015102.4:c.3315+32G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5933384 C G 5933384 5933384 - Variant 95681 RCV000081714;RCV000296377;RCV000388001 SCV000113645;SCV000312386;SCV000556432;SCV000358431;SCV000358430 101578 NPHP4 NM_015102.4:c.3243G>C NP_055917.1:p.Gly1081= NM_015102.4:c.3243G>C:synonymous variant;NR_111987.1:n.4058G>C:non-coding transcript variant Conflicting interpretations of pathogenicity benign;uncertain significance 0 0 2 0 3 criteria provided, conflicting interpretations criteria provided, single submitter Dec 05, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae,;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Illumina Clinical Services Laboratory,Illumina;Invitae, not specified;NOT SPECIFIED;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 23757202;25741868;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2012-08-28;0000-00-00;2016-06-14;2016-12-05 1 1 -1 5934490 A G 5934490 5934490 - Variant 260554 RCV000252694 SCV000312385 249999 NPHP4 NM_015102.4:c.3231+41T>C NM_015102.4:c.3231+41T>C:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5934500 T C 5934500 5934500 - Variant 260553 RCV000247753 SCV000312384 250000 NPHP4 NM_015102.4:c.3231+31A>G NM_015102.4:c.3231+31A>G:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5934526 C T 5934526 5934526 - Variant 297795 RCV000335051;RCV000398811 SCV000358432;SCV000358433 283022 NPHP4 NM_015102.4:c.3231+5G>A NM_015102.4:c.3231+5G>A:intron variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5934581 C T 5934581 5934581 - Variant 167372 RCV000153584 SCV000203122 176932 NPHP4 NM_015102.4:c.3181G>A NP_055917.1:p.Val1061Ile NM_015102.4:c.3181G>A:missense variant;NR_111987.1:n.3996G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-11 1 0 -1 5934594 G A 5934594 5934594 - Variant 288722 RCV000307652 SCV000342916 272959 NPHP4 NM_015102.4:c.3168C>T NP_055917.1:p.His1056= NM_015102.4:c.3168C>T:synonymous variant;NR_111987.1:n.3983C>T:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 09, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-06-09 1 0 -1 5934602 G A 5934602 5934602 - Variant 190976 RCV000171147 SCV000221343 188782 NPHP4 NM_015102.4:c.3160C>T NP_055917.1:p.Arg1054Cys NM_015102.4:c.3160C>T:missense variant;NR_111987.1:n.3975C>T:non-coding transcript variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter - Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre not provided;Not provided 25741868 germline MedGen:CN221809 0000-00-00 1 0 -1 5934612 C T 5934612 5934612 - Variant 288724 RCV000273056 SCV000342918 272961 NPHP4 NM_015102.4:c.3150G>A NP_055917.1:p.Gln1050= NM_015102.4:c.3150G>A:synonymous variant;NR_111987.1:n.3965G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 09, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-06-09 1 0 -1 5934618 G A 5934618 5934618 - Variant 240970 RCV000234198 SCV000290055 238337 NPHP4 NM_015102.4:c.3144C>T NP_055917.1:p.Ala1048= NM_015102.4:c.3144C>T:synonymous variant;NR_111987.1:n.3959C>T:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 19, 2016 Invitae, Invitae, Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-01-19 1 0 -1 5934639 G A 5934639 5934639 - Variant 413603 RCV000464176 SCV000556434 391347 NPHP4 NM_015102.4:c.3123C>T NP_055917.1:p.Phe1041= NM_015102.4:c.3123C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 16, 2016 Invitae, Invitae, Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-08-16 1 0 -1 5934644 T C 5934644 5934644 - Variant 286777 RCV000366209 SCV000340338 271014 NPHP4 NM_015102.4:c.3118A>G NP_055917.1:p.Met1040Val NM_015102.4:c.3118A>G:missense variant;NR_111987.1:n.3933A>G:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 14, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-03-14 1 0 -1 5934652 T G 5934652 5934652 - Variant 291100 RCV000373342 SCV000345797 275337 NPHP4 NM_015102.4:c.3110A>C NP_055917.1:p.Glu1037Ala NM_015102.4:c.3110A>C:missense variant;NR_111987.1:n.3925A>C:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 02, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-02 1 0 -1 5934681 C T 5934681 5934681 - Variant 260552 RCV000243174 SCV000312383 250001 NPHP4 NM_015102.4:c.3081G>A NP_055917.1:p.Lys1027= NM_015102.4:c.3081G>A:synonymous variant;NR_111987.1:n.3896G>A:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5934684 G A 5934684 5934684 - Variant 297796 RCV000280994;RCV000338607 SCV000358434;SCV000358435 281550 NPHP4 NM_015102.4:c.3078C>T NP_055917.1:p.Phe1026= NM_015102.4:c.3078C>T:synonymous variant;NR_111987.1:n.3893C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5934689 C G 5934689 5934689 - Variant 297797 RCV000303466;RCV000392493 SCV000358437;SCV000358436 283024 NPHP4 NM_015102.4:c.3073G>C NP_055917.1:p.Asp1025His NM_015102.4:c.3073G>C:missense variant;NR_111987.1:n.3888G>C:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5934710 C T 5934710 5934710 - Variant 220869 RCV000206676 SCV000261758 221110 NPHP4 NM_015102.4:c.3052G>A NP_055917.1:p.Val1018Met NM_015102.4:c.3052G>A:missense variant;NR_111987.1:n.3867G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 29, 2015 Invitae, Invitae, Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2015-10-29 1 0 -1 5934716 C T 5934716 5934716 - Variant 297798 RCV000360589;RCV000392484 SCV000358438;SCV000358439 281551 NPHP4 NM_015102.4:c.3046G>A NP_055917.1:p.Val1016Ile NM_015102.4:c.3046G>A:missense variant;NR_111987.1:n.3861G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5934721 G T 5934721 5934721 - Variant 297799 RCV000307136;RCV000364227 SCV000358440;SCV000358441 280976 NPHP4 NM_015102.4:c.3045-4C>A NM_015102.4:c.3045-4C>A:intron variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5934942 G A 5934942 5934942 - Variant 195613 RCV000176220 SCV000227837;SCV000312382 192774 NPHP4 NM_015102.4:c.3036C>T NP_055917.1:p.Pro1012= NM_015102.4:c.3036C>T:synonymous variant;NR_111987.1:n.3851C>T:non-coding transcript variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Mar 02, 2015 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2015-03-02;0000-00-00 2 0 -1 5934950 C T 5934950 5934950 - Variant 195609 RCV000176217 SCV000227834 192770 NPHP4 NM_015102.4:c.3028G>A NP_055917.1:p.Asp1010Asn NM_015102.4:c.3028G>A:missense variant;NR_111987.1:n.3843G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 09, 2014 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2014-07-09 1 0 -1 5934951 G A 5934951 5934951 - Variant 297800 RCV000272007;RCV000329409 SCV000358442;SCV000358443 280977 NPHP4 NM_015102.4:c.3027C>T NP_055917.1:p.Ile1009= NM_015102.4:c.3027C>T:synonymous variant;NR_111987.1:n.3842C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5934966 C T 5934966 5934966 - Variant 291268 RCV000379083 SCV000345986 275505 NPHP4 NM_015102.4:c.3012G>A NP_055917.1:p.Thr1004= NM_015102.4:c.3012G>A:synonymous variant;NR_111987.1:n.3827G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 21, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-21 1 0 -1 5935006 A G 5935006 5935006 - Variant 3402 RCV000003571 SCV000023729 18441 NPHP4 NM_015102.4:c.2972T>C NP_055917.1:p.Phe991Ser NM_015102.4:c.2972T>C:missense variant;NR_111987.1:n.3787T>C:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 01, 2002 OMIM OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321;27336129 germline GeneReviews:NBK368475;GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;MedGen:C1847013;OMIM:606966;Orphanet:655 2002-10-01 0 0 -1 5935013 C T 5935013 5935013 - Variant 195608 RCV000176216;RCV000261619;RCV000367814 SCV000581752;SCV000227833;SCV000358445;SCV000358444 192769 NPHP4 NM_015102.4:c.2965G>A NP_055917.1:p.Glu989Lys NM_015102.4:c.2965G>A:missense variant;NR_111987.1:n.3780G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 4 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 17, 2017 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Illumina Clinical Services Laboratory,Illumina not specified;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-07-07;2017-01-17;2016-06-14 2 0 -1 5935014 G A 5935014 5935014 - Variant 290383 RCV000351809 SCV000344929 274620 NPHP4 NM_015102.4:c.2964C>T NP_055917.1:p.Ala988= NM_015102.4:c.2964C>T:synonymous variant;NR_111987.1:n.3779C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-11 1 0 -1 5935019 C T 5935019 5935019 - Variant 286338 RCV000345507 SCV000339725 270575 NPHP4 NM_015102.4:c.2959G>A NP_055917.1:p.Val987Ile NM_015102.4:c.2959G>A:missense variant;NR_111987.1:n.3774G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 25, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-02-25 1 0 -1 5935033 T TGGAGC 5935034 5935038 - Variant 95680 RCV000081713 SCV000113644 101577 NPHP4 NM_015102.4:c.2940_2944dupGCTCC NP_055917.1:p.His982Argfs NM_015102.4:c.2940_2944dupGCTCC:frameshift variant;NR_111987.1:n.3755_3759dupGCTCC:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 30, 2013 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not provided;not provided 23757202 germline MedGen:CN221809 2013-08-30 0 0 -1 5935039 G A 5935039 5935039 - Variant 289035 RCV000400326 SCV000343307 273272 NPHP4 NM_015102.4:c.2939C>T NP_055917.1:p.Thr980Met NM_015102.4:c.2939C>T:missense variant;NR_111987.1:n.3754C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 21, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-06-21 1 0 -1 5935064 T C 5935064 5935064 - Variant 195610 RCV000176218;RCV000224574 SCV000227835;SCV000281307 192771 NPHP4 NM_015102.4:c.2914A>G NP_055917.1:p.Ser972Gly NM_015102.4:c.2914A>G:missense variant;NR_111987.1:n.3729A>G:non-coding transcript variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 22, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;not provided 25741868 germline MedGen:CN169374;MedGen:CN221809 2015-01-13;2015-05-22-05:00 2 0 -1 5935076 C T 5935076 5935076 - Variant 291052 RCV000279729 SCV000345735 275289 NPHP4 NM_015102.4:c.2902G>A NP_055917.1:p.Ala968Thr NM_015102.4:c.2902G>A:missense variant;NR_111987.1:n.3717G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 20, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-20 1 0 -1 5935086 G A 5935086 5935086 - Variant 195614 RCV000176221 SCV000227838 192775 NPHP4 NM_015102.4:c.2892C>T NP_055917.1:p.Ala964= NM_015102.4:c.2892C>T:synonymous variant;NR_111987.1:n.3707C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 19, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-02-19 1 0 -1 5935096 C T 5935096 5935096 - Variant 167373 RCV000153585;RCV000206662 SCV000203123;SCV000260286 177195 NPHP4 NM_015102.4:c.2882G>A NP_055917.1:p.Arg961His NM_015102.4:c.2882G>A:missense variant;NR_111987.1:n.3697G>A:non-coding transcript variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 28, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2014-03-11;2015-08-28 2 0 -1 5935102 C T 5935102 5935102 - Variant 240969 RCV000231338;RCV000389915 SCV000290054;SCV000358446;SCV000358447 238338 NPHP4 NM_015102.4:c.2876G>A NP_055917.1:p.Arg959Gln NM_015102.4:c.2876G>A:missense variant;NR_111987.1:n.3691G>A:non-coding transcript variant Benign/Likely benign benign;likely benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 Invitae,;Illumina Clinical Services Laboratory,Illumina Invitae,;Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2015-12-16;2016-06-14 2 0 -1 5935110 G A 5935110 5935110 - Variant 167374 RCV000153586;RCV000295648;RCV000331805 SCV000312381;SCV000203124;SCV000358448;SCV000358449 177884 NPHP4 NM_015102.4:c.2868C>T NP_055917.1:p.Ala956= NM_015102.4:c.2868C>T:synonymous variant;NR_111987.1:n.3683C>T:non-coding transcript variant Benign/Likely benign benign;likely benign 0 0 0 2 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 25741868;27336129 germline MedGen:CN169374;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2014-01-30;0000-00-00;2016-06-14 2 0 -1 5935129 C T 5935129 5935129 - Variant 291277 RCV000314498 SCV000345996 275514 NPHP4 NM_015102.4:c.2849G>A NP_055917.1:p.Arg950Gln NM_015102.4:c.2849G>A:missense variant;NR_111987.1:n.3664G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 23, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-23 1 0 -1 5935158 C T 5935158 5935158 - Variant 260551 RCV000242359;RCV000291890;RCV000386368 SCV000312380;SCV000358451;SCV000358450 250002 NPHP4 NM_015102.4:c.2820G>A NP_055917.1:p.Ala940= NM_015102.4:c.2820G>A:synonymous variant;NR_111987.1:n.3635G>A:non-coding transcript variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 2 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 PreventionGenetics;Illumina Clinical Services Laboratory,Illumina PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 25741868;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 0000-00-00;2016-06-14 1 1 -1 5935162 A T 5935162 5935162 - Variant 167375 RCV000153587 SCV000203125 177885 NPHP4 NM_015102.4:c.2818-2T>A NM_015102.4:c.2818-2T>A:splice acceptor variant Benign benign 0 0 0 0 1 no assertion criteria provided no assertion criteria provided Oct 01, 2013 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;AllHighlyPenetrant germline MedGen:CN169374 2013-10-01 0 0 -1 5935180 G A 5935180 5935180 - Variant 195612 RCV000176219 SCV000227836 192773 NPHP4 NM_015102.4:c.2818-20C>T NM_015102.4:c.2818-20C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 21, 2014 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2014-11-21 1 0 -1 5937158 C T 5937158 5937158 - Variant 260550 RCV000250885 SCV000331023;SCV000312379 250003 NPHP4 NM_015102.4:c.2812G>A NP_055917.1:p.Val938Met NM_015102.4:c.2812G>A:missense variant;NR_111987.1:n.3364G>A:non-coding transcript variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Dec 09, 2015 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2015-12-09 2 0 -1 5937162 C T 5937162 5937162 - Variant 240968 RCV000227512;RCV000245940;RCV000401361 SCV000358452;SCV000290053;SCV000312378;SCV000331079;SCV000358453 238339 NPHP4 NM_015102.4:c.2808G>A NP_055917.1:p.Thr936= NM_015102.4:c.2808G>A:synonymous variant;NR_111987.1:n.3360G>A:non-coding transcript variant Benign/Likely benign benign;likely benign 0 0 0 2 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 Invitae,;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Invitae,;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Nephronophthisis;not specified;NOT SPECIFIED;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129;25741868 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;MedGen:CN169374;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-01-16;2016-06-14;0000-00-00;2015-07-09 2 0 -1 5937163 G A 5937163 5937163 - Variant 284756 RCV000398485 SCV000337499 268993 NPHP4 NM_015102.4:c.2807C>T NP_055917.1:p.Thr936Met NM_015102.4:c.2807C>T:missense variant;NR_111987.1:n.3359C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 17, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-12-17 1 0 -1 5937163 G T 5937163 5937163 - Variant 167376 RCV000153588 SCV000203126 177064 NPHP4 NM_015102.4:c.2807C>A NP_055917.1:p.Thr936Lys NM_015102.4:c.2807C>A:missense variant;NR_111987.1:n.3359C>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 25, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-07-25 1 0 -1 5937168 G A 5937168 5937168 - Variant 95679 RCV000081712;RCV000288432;RCV000343148 SCV000113643;SCV000312377;SCV000358454;SCV000358455 101576 NPHP4 NM_015102.4:c.2802C>T NP_055917.1:p.Arg934= NM_015102.4:c.2802C>T:synonymous variant;NR_111987.1:n.3354C>T:non-coding transcript variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 23757202;25741868;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2013-10-04;2016-01-27;2016-06-14 2 0 -1 5937246 C T 5937246 5937246 - Variant 95678 RCV000081711;RCV000303360;RCV000399353 SCV000312374;SCV000113642;SCV000358457;SCV000556437;SCV000358456 101575 NPHP4 NM_015102.4:c.2724G>A NP_055917.1:p.Ser908= NM_015102.4:c.2724G>A:synonymous variant;NR_111987.1:n.3276G>A:non-coding transcript variant Benign/Likely benign benign;likely benign 0 0 0 2 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 05, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae,;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Illumina Clinical Services Laboratory,Illumina;Invitae, not specified;NOT SPECIFIED;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 23757202;25741868;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2013-10-04;0000-00-00;2016-06-14;2016-10-05 2 0 -1 5937260 C T 5937260 5937260 - Variant 297801 RCV000358103;RCV000407118 SCV000358458;SCV000358459 282760 NPHP4 NM_015102.4:c.2710G>A NP_055917.1:p.Val904Ile NM_015102.4:c.2710G>A:missense variant;NR_111987.1:n.3262G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5937269 G A 5937269 5937269 - Variant 297802 RCV000300044;RCV000354793 SCV000358460;SCV000358461 281556 NPHP4 NM_015102.4:c.2701C>T NP_055917.1:p.Pro901Ser NM_015102.4:c.2701C>T:missense variant;NR_111987.1:n.3253C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5937283 C T 5937283 5937283 - Variant 286862 RCV000301378 SCV000340440 271099 NPHP4 NM_015102.4:c.2687G>A NP_055917.1:p.Arg896Gln NM_015102.4:c.2687G>A:missense variant;NR_111987.1:n.3239G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 10, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-03-10 1 0 -1 5937317 T G 5937317 5937317 - Variant 291103 RCV000284900 SCV000345801 275340 NPHP4 NM_015102.4:c.2653A>C NP_055917.1:p.Ser885Arg NM_015102.4:c.2653A>C:missense variant;NR_111987.1:n.3205A>C:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 02, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-02 1 0 -1 5937317 TGTCCAC GGTCCAT 5937317 5937323 - Variant 291179 RCV000393877 SCV000345886 275416 NPHP4 NM_015102.4:c.2647_2653delGTGGACAinsATGGACC NP_055917.1:p.Val883_Ser885delinsMetAspArg NM_015102.4:c.2647_2653delGTGGACAinsATGGACC:missense variant;NR_111987.1:n.3199_3205delGTGGACAinsATGGACC:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 07, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-07 1 0 -1 5937323 C T 5937323 5937323 - Variant 291099 RCV000316330 SCV000345796 275336 NPHP4 NM_015102.4:c.2647G>A NP_055917.1:p.Val883Met NM_015102.4:c.2647G>A:missense variant;NR_111987.1:n.3199G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 02, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-02 1 0 -1 5937327 C T 5937327 5937327 - Variant 95677 RCV000081710;RCV000260042;RCV000314742 SCV000113641;SCV000312373;SCV000358462;SCV000358463 101574 NPHP4 NM_015102.4:c.2643G>A NP_055917.1:p.Ala881= NM_015102.4:c.2643G>A:synonymous variant;NR_111987.1:n.3195G>A:non-coding transcript variant Benign/Likely benign benign;likely benign 0 0 0 2 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 23757202;25741868;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2013-10-01;0000-00-00;2016-06-14 2 0 -1 5937328 G A 5937328 5937328 - Variant 297803 RCV000274871;RCV000369396 SCV000358465;SCV000358464 282761 NPHP4 NM_015102.4:c.2642C>T NP_055917.1:p.Ala881Val NM_015102.4:c.2642C>T:missense variant;NR_111987.1:n.3194C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5937391 C T 5937391 5937391 - Variant 260547 RCV000243253 SCV000312372 250004 NPHP4 NM_015102.4:c.2612-33G>A NM_015102.4:c.2612-33G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5940216 G A 5940216 5940216 - Variant 288104 RCV000318135 SCV000342109 272341 NPHP4 NM_015102.4:c.2569C>T NP_055917.1:p.Arg857Cys NM_015102.4:c.2569C>T:missense variant;NR_111987.1:n.2834C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 13, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-05-13 1 0 -1 5940228 C A 5940228 5940228 - Variant 297804 RCV000330012;RCV000384597 SCV000358466;SCV000358467 282762 NPHP4 NM_015102.4:c.2557G>T NP_055917.1:p.Asp853Tyr NM_015102.4:c.2557G>T:missense variant;NR_111987.1:n.2822G>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5940242 C T 5940242 5940242 - Variant 95676 RCV000081709 SCV000113640 101573 NPHP4 NM_015102.4:c.2543G>A NP_055917.1:p.Arg848Gln NM_015102.4:c.2543G>A:missense variant;NR_111987.1:n.2808G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 08, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified 23757202 germline MedGen:CN169374 2016-06-08 1 0 -1 5940243 G A 5940243 5940243 - Variant 95675 RCV000081708 SCV000113639 101572 NPHP4 NM_015102.4:c.2542C>T NP_055917.1:p.Arg848Trp NM_015102.4:c.2542C>T:missense variant;NR_111987.1:n.2807C>T:non-coding transcript variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Feb 22, 2013 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified 23757202 germline MedGen:CN169374 2013-02-22 1 0 -1 5940254 G A 5940254 5940254 - Variant 297805 RCV000271097;RCV000326128 SCV000358468;SCV000358469 283025 NPHP4 NM_015102.4:c.2531C>T NP_055917.1:p.Pro844Leu NM_015102.4:c.2531C>T:missense variant;NR_111987.1:n.2796C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5940266 C T 5940266 5940266 - Variant 289888 RCV000334924 SCV000344322 274125 NPHP4 NM_015102.4:c.2519G>A NP_055917.1:p.Ser840Asn NM_015102.4:c.2519G>A:missense variant;NR_111987.1:n.2784G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 02, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-02 1 0 -1 5940275 C T 5940275 5940275 - Variant 194970 RCV000175463 SCV000226945 192132 NPHP4 NM_015102.4:c.2510G>A NP_055917.1:p.Arg837Lys NM_015102.4:c.2510G>A:missense variant;NR_111987.1:n.2775G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 17, 2014 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2014-11-17 1 0 -1 5947308 G A 5947308 5947308 - Variant 260546 RCV000253302 SCV000312371 250005 NPHP4 NM_015102.4:c.2485+38C>T NM_015102.4:c.2485+38C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5947366 T C 5947366 5947366 - Variant 194865 RCV000175333 SCV000226804 192028 NPHP4 NM_015102.4:c.2465A>G NP_055917.1:p.His822Arg NM_015102.4:c.2465A>G:missense variant;NR_111987.1:n.2730A>G:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 12, 2014 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2014-06-12 1 0 -1 5947372 C T 5947372 5947372 - Variant 297806 RCV000286794;RCV000380703 SCV000358471;SCV000358470 281559 NPHP4 NM_015102.4:c.2459G>A NP_055917.1:p.Arg820Gln NM_015102.4:c.2459G>A:missense variant;NR_111987.1:n.2724G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5947373 G A 5947373 5947373 - Variant 287002 RCV000264657 SCV000340625 271239 NPHP4 NM_015102.4:c.2458C>T NP_055917.1:p.Arg820Trp NM_015102.4:c.2458C>T:missense variant;NR_111987.1:n.2723C>T:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 25, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-25 1 0 -1 5947406 T C 5947406 5947406 - Variant 194866 RCV000175334 SCV000226805 192029 NPHP4 NM_015102.4:c.2425A>G NP_055917.1:p.Lys809Glu NM_015102.4:c.2425A>G:missense variant;NR_111987.1:n.2690A>G:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 02, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-03-02 1 0 -1 5947412 G A 5947412 5947412 - Variant 297807 RCV000341820;RCV000377653 SCV000358472;SCV000358473 281564 NPHP4 NM_015102.4:c.2419C>T NP_055917.1:p.Arg807Cys NM_015102.4:c.2419C>T:missense variant;NR_111987.1:n.2684C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5947454 G A 5947454 5947454 - Variant 3400 RCV000003569 SCV000023727 18439 NPHP4 NM_015102.4:c.2377C>T NP_055917.1:p.Gln793Ter NM_015102.4:c.2377C>T:nonsense;NR_111987.1:n.2642C>T:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 01, 2002 OMIM OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321;27336129 germline GeneReviews:NBK368475;GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;MedGen:C1847013;OMIM:606966;Orphanet:655 2002-10-01 0 0 -1 5947463 C A 5947463 5947463 - Variant 3399 RCV000003568 SCV000023726 18438 NPHP4 NM_015102.4:c.2368G>T NP_055917.1:p.Glu790Ter NM_015102.4:c.2368G>T:nonsense;NR_111987.1:n.2633G>T:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 01, 2002 OMIM OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321;27336129 germline GeneReviews:NBK368475;GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;MedGen:C1847013;OMIM:606966;Orphanet:655 2002-10-01 0 0 -1 5947471 A T 5947471 5947471 - Variant 156398 RCV000144480 SCV000189615 166178 NPHP4 NM_015102.4:c.2360T>A NP_055917.1:p.Val787Glu NM_015102.4:c.2360T>A:missense variant;NR_111987.1:n.2625T>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided Sep 18, 2014 Molecular Diagnostics Laboratory,Seoul National University Hospital Molecular Diagnostics Laboratory,Seoul National University Hospital Leber congenital amaurosis;Leber congenital amaurosis 20301475 unknown GeneReviews:NBK1298;Genetic Alliance:Leber+congenital+amaurosis/4130;Genetics Home Reference:leber-congenital-amaurosis;MeSH:D057130;MedGen:C0339527;OMIM:204000;OMIM:PS204000;Office of Rare Diseases:634;Orphanet:ORPHA65;SNOMED CT:193413001 2014-09-18 0 0 -1 5947496 G A 5947496 5947496 - Variant 3404 RCV000003573;RCV000234814 SCV000023731;SCV000292011 18443 NPHP4 NM_015102.4:c.2335C>T NP_055917.1:p.Gln779Ter NM_015102.4:c.2335C>T:nonsense;NR_111987.1:n.2600C>T:non-coding transcript variant Pathogenic pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 10, 2016 OMIM;GeneReviews OMIM;GeneReviews Senior-Loken syndrome 4;SENIOR-LOKEN SYNDROME 4;Nephronophthisis 11920287;12205563;6837691;27336129 germline Genetic Alliance:Senior-Loken+syndrome+4/9280;Genetics Home Reference:senior-loken-syndrome;MedGen:C1846979;OMIM:606996;Orphanet:3156;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2002-11-01;2016-02-10 0 0 diff --git a/output/b37/single/clinvar_alleles_example_750_rows.single.b37.vcf b/output/b37/single/clinvar_alleles_example_750_rows.single.b37.vcf index 1c73edc..a279cc2 100644 --- a/output/b37/single/clinvar_alleles_example_750_rows.single.b37.vcf +++ b/output/b37/single/clinvar_alleles_example_750_rows.single.b37.vcf @@ -124,161 +124,250 @@ ##contig= ##reference=/Users/weisburd/hg19.fa #CHROM POS ID REF ALT QUAL FILTER INFO +1 949422 . G A . . START=949422;STOP=949422;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=475283;RCV=RCV000537631;SCV=SCV000655463;ALLELE_ID=446939;SYMBOL=ISG15;HGVS_C=NM_005101.3:c.62G>A;HGVS_P=NP_005092.1:p.Ser21Asn;MOLECULAR_CONSEQUENCE=NM_005101.3:c.62G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_26..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=MedGen:C4015293|OMIM:616126|Orphanet:319563;DATES_ORDERED=2017-05-26 1 949523 . C T . . START=949523;STOP=949523;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=183381;RCV=RCV000162196;SCV=SCV000212156;ALLELE_ID=181485;SYMBOL=ISG15;HGVS_C=NM_005101.3:c.163C>T;HGVS_P=NP_005092.1:p.Gln55Ter;MOLECULAR_CONSEQUENCE=NM_005101.3:c.163C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification|IMMUNODEFICIENCY_38_WITH_BASAL_GANGLIA_CALCIFICATION;ALL_PMIDS=25307056;ORIGIN=germline;XREFS=MedGen:C4015293|OMIM:616126|Orphanet:319563;DATES_ORDERED=2015-01-01 +1 949597 . C T . . START=949597;STOP=949597;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=475278;RCV=RCV000544298;SCV=SCV000655458;ALLELE_ID=446987;SYMBOL=ISG15;HGVS_C=NM_005101.3:c.237C>T;HGVS_P=NP_005092.1:p.Asp79_eq_;MOLECULAR_CONSEQUENCE=NM_005101.3:c.237C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_15..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=MedGen:C4015293|OMIM:616126|Orphanet:319563;DATES_ORDERED=2017-06-15 1 949608 . G A . . START=949608;STOP=949608;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=402986;RCV=RCV000455759;SCV=SCV000539397;ALLELE_ID=389314;SYMBOL=ISG15;HGVS_C=NM_005101.3:c.248G>A;HGVS_P=NP_005092.1:p.Ser83Asn;MOLECULAR_CONSEQUENCE=NM_005101.3:c.248G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_29..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-29 1 949696 . C CG . . START=949699;STOP=949699;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=161455;RCV=RCV000148989;SCV=SCV000196037;ALLELE_ID=171289;SYMBOL=ISG15;HGVS_C=NM_005101.3:c.339dupG;HGVS_P=NP_005092.1:p.Leu114Alafs;MOLECULAR_CONSEQUENCE=NM_005101.3:c.339dupG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification|IMMUNODEFICIENCY_38_WITH_BASAL_GANGLIA_CALCIFICATION;ALL_PMIDS=1|22859821|25307056;ORIGIN=germline;XREFS=MedGen:C4015293|OMIM:616126|Orphanet:319563;DATES_ORDERED=2015-01-01 1 949739 . G T . . START=949739;STOP=949739;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=161454;RCV=RCV000148988;SCV=SCV000196036;ALLELE_ID=171288;SYMBOL=ISG15;HGVS_C=NM_005101.3:c.379G>T;HGVS_P=NP_005092.1:p.Glu127Ter;MOLECULAR_CONSEQUENCE=NM_005101.3:c.379G>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification|IMMUNODEFICIENCY_38_WITH_BASAL_GANGLIA_CALCIFICATION;ALL_PMIDS=22859821|25307056;ORIGIN=germline;XREFS=MedGen:C4015293|OMIM:616126|Orphanet:319563;DATES_ORDERED=2015-01-01 -1 955563 . G C . . START=955563;STOP=955563;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387476;RCV=RCV000424799;SCV=SCV000529531;ALLELE_ID=364282;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.11G>C;HGVS_P=NP_940978.2:p.Arg4Pro;MOLECULAR_CONSEQUENCE=NM_198576.3:c.11G>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-15 -1 955596 . C G . . START=955596;STOP=955596;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=377270;RCV=RCV000422793;SCV=SCV000511620;ALLELE_ID=364148;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.44C>G;HGVS_P=NP_940978.2:p.Pro15Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.44C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_03..2017;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2017-02-03-06:00 +1 949831 . C T . . START=949831;STOP=949831;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=475281;RCV=RCV000543212;SCV=SCV000655461;ALLELE_ID=446936;SYMBOL=ISG15;HGVS_C=NM_005101.3:c.471C>T;HGVS_P=NP_005092.1:p.Gly157_eq_;MOLECULAR_CONSEQUENCE=NM_005101.3:c.471C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_13..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=MedGen:C4015293|OMIM:616126|Orphanet:319563;DATES_ORDERED=2017-06-13 +1 949851 . G C . . START=949851;STOP=949851;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=475282;RCV=RCV000559328;SCV=SCV000655462;ALLELE_ID=446981;SYMBOL=ISG15;HGVS_C=NM_005101.3:c.491G>C;HGVS_P=NP_005092.1:p.Arg164Pro;MOLECULAR_CONSEQUENCE=NM_005101.3:c.491G>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_04..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Immunodeficiency_38_with_basal_ganglia_calcification;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=MedGen:C4015293|OMIM:616126|Orphanet:319563;DATES_ORDERED=2017-08-04 +1 955557 . C A . . START=955557;STOP=955557;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474165;RCV=RCV000550388;SCV=SCV000653986;ALLELE_ID=446941;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5C>A;HGVS_P=NP_940978.2:p.Ala2Asp;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_22..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-03-22 +1 955563 . G C . . START=955563;STOP=955563;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387476;RCV=RCV000424799|RCV000535257;SCV=SCV000529531|SCV000653873;ALLELE_ID=364282;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.11G>C;HGVS_P=NP_940978.2:p.Arg4Pro;MOLECULAR_CONSEQUENCE=NM_198576.3:c.11G>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_28..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2016-07-15|2017-06-28 +1 955596 . C G . . START=955596;STOP=955596;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=377270;RCV=RCV000422793;SCV=SCV000511620;ALLELE_ID=364148;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.44C>G;HGVS_P=NP_940978.2:p.Pro15Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.44C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_03..2017;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2017-02-03 1 955597 . G T . . START=955597;STOP=955597;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128310;RCV=RCV000116272;SCV=SCV000150190|SCV000519170|SCV000317056;ALLELE_ID=133759;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.45G>T;HGVS_P=NP_940978.2:p.Pro15_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.45G>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-08-29|0000-00-00|2016-02-04 1 955601 . C T . . START=955601;STOP=955601;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=388958;RCV=RCV000437701;SCV=SCV000531361;ALLELE_ID=364285;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.49C>T;HGVS_P=NP_940978.2:p.Leu17Phe;MOLECULAR_CONSEQUENCE=NM_198576.3:c.49C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_07..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-07 -1 955619 . G C . . START=955619;STOP=955619;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210112;RCV=RCV000193277;SCV=SCV000317081|SCV000246342;ALLELE_ID=206690;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.67G>C;HGVS_P=NP_940978.2:p.Val23Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.67G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_29..2014;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-09-29|0000-00-00 +1 955619 . G C . . START=955619;STOP=955619;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210112;RCV=RCV000193277|RCV000527875;SCV=SCV000317081|SCV000246342|SCV000653990;ALLELE_ID=206690;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.67G>C;HGVS_P=NP_940978.2:p.Val23Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.67G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2014-09-29|0000-00-00|2017-08-11 1 957568 . A G . . START=957568;STOP=957568;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263166;RCV=RCV000250556;SCV=SCV000317015;ALLELE_ID=249265;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.202-13A>G;MOLECULAR_CONSEQUENCE=NM_198576.3:c.202-13A>G:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 1 957605 . G A . . START=957605;STOP=957605;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=243036;RCV=RCV000235037;SCV=SCV000292405;ALLELE_ID=244110;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.226G>A;HGVS_P=NP_940978.2:p.Gly76Ser;MOLECULAR_CONSEQUENCE=NM_198576.3:c.226G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347|24951643;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2016-07-14 -1 957640 . C T . . START=957640;STOP=957640;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128296;RCV=RCV000116258;SCV=SCV000317028|SCV000150176;ALLELE_ID=133745;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.261C>T;HGVS_P=NP_940978.2:p.Asp87_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.261C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00 +1 957640 . C T . . START=957640;STOP=957640;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128296;RCV=RCV000116258|RCV000550396;SCV=SCV000317028|SCV000150176|SCV000653894;ALLELE_ID=133745;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.261C>T;HGVS_P=NP_940978.2:p.Asp87_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.261C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-08-11 1 957693 . A T . . START=957693;STOP=957693;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=243037;RCV=RCV000235021;SCV=SCV000292406;ALLELE_ID=244111;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.314A>T;HGVS_P=NP_940978.2:p.Asn105Ile;MOLECULAR_CONSEQUENCE=NM_198576.3:c.314A>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347|24951643;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2016-07-14 +1 970687 . C T . . START=970687;STOP=970687;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474141;RCV=RCV000555748;SCV=SCV000653952;ALLELE_ID=446942;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.494C>T;HGVS_P=NP_940978.2:p.Pro165Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.494C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2016-10-26 1 976059 . C T . . START=976059;STOP=976059;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210111;RCV=RCV000195231;SCV=SCV000246341|SCV000317068;ALLELE_ID=206691;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.526C>T;HGVS_P=NP_940978.2:p.Leu176_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.526C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_28..2014;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-10-28|0000-00-00 -1 976554 . C G . . START=976554;STOP=976554;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263202;RCV=RCV000241878;SCV=SCV000317082;ALLELE_ID=249305;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.729C>G;HGVS_P=NP_940978.2:p.Gly243_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.729C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 976563 . C T . . START=976563;STOP=976563;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263203;RCV=RCV000246662;SCV=SCV000317083;ALLELE_ID=249306;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.738C>T;HGVS_P=NP_940978.2:p.Asp246_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.738C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 +1 976112 . G A . . START=976112;STOP=976112;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474159;RCV=RCV000536149;SCV=SCV000653979;ALLELE_ID=447009;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.579G>A;HGVS_P=NP_940978.2:p.Ala193_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.579G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_24..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-03-24 +1 976124 . CAAG C . . START=976129;STOP=976131;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474163;RCV=RCV000550064;SCV=SCV000653983;ALLELE_ID=446960;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.596_598delAGA;HGVS_P=NP_940978.2:p.Lys199del;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_17..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-02-17 +1 976554 . C G . . START=976554;STOP=976554;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263202;RCV=RCV000241878|RCV000540327;SCV=SCV000317082|SCV000653991;ALLELE_ID=249305;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.729C>G;HGVS_P=NP_940978.2:p.Gly243_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.729C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2017;ALL_SUBMITTERS=PreventionGenetics|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-08-11 +1 976563 . C T . . START=976563;STOP=976563;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263203;RCV=RCV000246662|RCV000551940;SCV=SCV000317083|SCV000653992;ALLELE_ID=249306;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.738C>T;HGVS_P=NP_940978.2:p.Asp246_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.738C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_02..2017;ALL_SUBMITTERS=PreventionGenetics|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-08-02 1 976577 . T C . . START=976577;STOP=976577;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=430121;RCV=RCV000492793;SCV=SCV000582847;ALLELE_ID=421151;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.752T>C;HGVS_P=NP_940978.2:p.Val251Ala;MOLECULAR_CONSEQUENCE=NM_198576.3:c.752T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_22..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-05-22 -1 976598 . C T . . START=976598;STOP=976598;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263204;RCV=RCV000249809;SCV=SCV000317084|SCV000593067;ALLELE_ID=249307;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.773C>T;HGVS_P=NP_940978.2:p.Thr258Ile;MOLECULAR_CONSEQUENCE=NM_198576.3:c.773C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Nov_11..2015;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2015-11-11 -1 976629 . C T . . START=976629;STOP=976629;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128320;RCV=RCV000116282;SCV=SCV000150200|SCV000526741;ALLELE_ID=133769;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.804C>T;HGVS_P=NP_940978.2:p.Ala268_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.804C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_20..2016;ALL_SUBMITTERS=GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|not_specified;ALL_PMIDS=18414213;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|2016-09-20 +1 976598 . C T . . START=976598;STOP=976598;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263204;RCV=RCV000249809|RCV000532513;SCV=SCV000317084|SCV000593067|SCV000653993;ALLELE_ID=249307;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.773C>T;HGVS_P=NP_940978.2:p.Thr258Ile;MOLECULAR_CONSEQUENCE=NM_198576.3:c.773C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2015-11-11|2017-08-11 +1 976629 . C T . . START=976629;STOP=976629;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128320;RCV=RCV000116282|RCV000545263;SCV=SCV000150200|SCV000612304|SCV000526741|SCV000653994;ALLELE_ID=133769;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.804C>T;HGVS_P=NP_940978.2:p.Ala268_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.804C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_04..2017;ALL_SUBMITTERS=Athena_Diagnostics_Inc|GeneDx|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|GeneDx|Athena_Diagnostics_Inc|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|Myasthenic_syndrome..congenital..8;ALL_PMIDS=18414213|26467025|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2013-08-15|2016-09-20|2016-06-16|2017-08-04 +1 976654 . C T . . START=976654;STOP=976654;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474169;RCV=RCV000553169;SCV=SCV000653995;ALLELE_ID=446994;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.829C>T;HGVS_P=NP_940978.2:p.Arg277Cys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.829C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_18..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-04-18 +1 976959 . C G . . START=976959;STOP=976959;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474095;RCV=RCV000533556;SCV=SCV000653867;ALLELE_ID=446995;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1054C>G;HGVS_P=NP_940978.2:p.Arg352Gly;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1054C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_23..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-05-23 1 976962 . C T . . START=976962;STOP=976962;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=126556;RCV=RCV000114428|RCV000235030;SCV=SCV000148370|SCV000292407;ALLELE_ID=132069;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1057C>T;HGVS_P=NP_940978.2:p.Gln353Ter;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1057C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Myasthenic_syndrome..congenital..8|MYASTHENIC_SYNDROME..CONGENITAL..8|Congenital_myasthenic_syndrome;ALL_PMIDS=20301347|22205389;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2012-07-01|2016-07-14 -1 976963 . A G . . START=976963;STOP=976963;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128291;RCV=RCV000116253;SCV=SCV000150171|SCV000529532;ALLELE_ID=133740;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1058A>G;HGVS_P=NP_940978.2:p.Gln353Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1058A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Nov_10..2016;ALL_SUBMITTERS=GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-11-10 -1 977028 . G T . . START=977028;STOP=977028;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263158;RCV=RCV000243499|RCV000430046;SCV=SCV000334297|SCV000317005|SCV000593068|SCV000511758;ALLELE_ID=249308;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1123G>T;HGVS_P=NP_940978.2:p.Ala375Ser;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1123G>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=4;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_02..2017;ALL_SUBMITTERS=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Genetic_Services_Laboratory..University_of_Chicago|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Genetic_Services_Laboratory..University_of_Chicago|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN221809;DATES_ORDERED=0000-00-00|2015-09-14|2017-02-02|2016-12-30-06:00 +1 976963 . A G . . START=976963;STOP=976963;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128291;RCV=RCV000116253|RCV000545898;SCV=SCV000150171|SCV000529532|SCV000653868;ALLELE_ID=133740;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1058A>G;HGVS_P=NP_940978.2:p.Gln353Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1058A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Aug_08..2017;ALL_SUBMITTERS=GeneDx|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|GeneDx|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2016-11-10|2017-08-08 +1 977028 . G T . . START=977028;STOP=977028;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263158;RCV=RCV000243499|RCV000430046|RCV000557729;SCV=SCV000334297|SCV000317005|SCV000593068|SCV000511758|SCV000653869;ALLELE_ID=249308;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1123G>T;HGVS_P=NP_940978.2:p.Ala375Ser;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1123G>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=4;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_08..2017;ALL_SUBMITTERS=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Genetic_Services_Laboratory..University_of_Chicago|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Genetic_Services_Laboratory..University_of_Chicago|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_provided|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN517202|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2015-09-14|2017-02-02|2016-12-30|2017-08-08 +1 977035 . G A . . START=977035;STOP=977035;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474096;RCV=RCV000533895;SCV=SCV000653870;ALLELE_ID=447000;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1130G>A;HGVS_P=NP_940978.2:p.Arg377Gln;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1130G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_05..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-05 +1 977050 . A G . . START=977050;STOP=977050;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474097;RCV=RCV000546257;SCV=SCV000653871;ALLELE_ID=447003;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1145A>G;HGVS_P=NP_940978.2:p.Gln382Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1145A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_24..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-04-24 1 977330 . T C . . START=977330;STOP=977330;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128292;RCV=RCV000116254;SCV=SCV000150172|SCV000519171|SCV000317006;ALLELE_ID=133741;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1178-6T>C;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1178-6T>C:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-01-19 +1 977356 . C T . . START=977356;STOP=977356;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474098;RCV=RCV000558783;SCV=SCV000653872;ALLELE_ID=447005;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1198C>T;HGVS_P=NP_940978.2:p.Arg400Trp;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1198C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_11..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-05-11 1 977516 . T TC . . START=977520;STOP=977520;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=243038;RCV=RCV000235036;SCV=SCV000292408;ALLELE_ID=244112;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1362dupC;HGVS_P=NP_940978.2:p.Ser455GlnfsTer8;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1362dupC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2016-07-14 1 977570 . G A . . START=977570;STOP=977570;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263159;RCV=RCV000251375;SCV=SCV000317007;ALLELE_ID=249309;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1384+28G>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1384+28G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 1 978603 . CCT C . . START=978604;STOP=978605;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263160;RCV=RCV000244801;SCV=SCV000317008;ALLELE_ID=249310;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1385-15_1385-14delCT;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1385-15_1385-14delCT:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_27..2016;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-01-27 1 978628 . C T . . START=978628;STOP=978628;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263161;RCV=RCV000249555;SCV=SCV000317009;ALLELE_ID=249311;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1394C>T;HGVS_P=NP_940978.2:p.Pro465Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1394C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 978668 . G A . . START=978668;STOP=978668;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263162;RCV=RCV000254334;SCV=SCV000317010;ALLELE_ID=249312;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1434G>A;HGVS_P=NP_940978.2:p.Thr478_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1434G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 978762 . G A . . START=978762;STOP=978762;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263163;RCV=RCV000244472;SCV=SCV000519329|SCV000317011;ALLELE_ID=249313;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1528G>A;HGVS_P=NP_940978.2:p.Gly510Ser;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1528G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_24..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-10-24 +1 978629 . G A . . START=978629;STOP=978629;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474099;RCV=RCV000547860;SCV=SCV000653874;ALLELE_ID=447016;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1395G>A;HGVS_P=NP_940978.2:p.Pro465_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1395G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-01 +1 978635 . A G . . START=978635;STOP=978635;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474100;RCV=RCV000528299;SCV=SCV000653875;ALLELE_ID=446944;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1401A>G;HGVS_P=NP_940978.2:p.Pro467_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1401A>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_06..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-04-06 +1 978668 . G A . . START=978668;STOP=978668;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263162;RCV=RCV000254334|RCV000536310;SCV=SCV000317010|SCV000653876;ALLELE_ID=249312;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1434G>A;HGVS_P=NP_940978.2:p.Thr478_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1434G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_04..2017;ALL_SUBMITTERS=PreventionGenetics|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-08-04 +1 978762 . G A . . START=978762;STOP=978762;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263163;RCV=RCV000244472|RCV000548068;SCV=SCV000612295|SCV000519329|SCV000317011|SCV000653877;ALLELE_ID=249313;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1528G>A;HGVS_P=NP_940978.2:p.Gly510Ser;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1528G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Athena_Diagnostics_Inc|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx|Athena_Diagnostics_Inc|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|26467025|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2016-10-24|2016-09-15|2017-08-11 +1 978773 . C T . . START=978773;STOP=978773;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474101;RCV=RCV000528770;SCV=SCV000653878;ALLELE_ID=447008;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1539C>T;HGVS_P=NP_940978.2:p.Cys513_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1539C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_28..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-07-28 +1 978804 . C T . . START=978804;STOP=978804;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=446814;RCV=RCV000516394;SCV=SCV000612296;ALLELE_ID=440337;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1570C>T;HGVS_P=NP_940978.2:p.Arg524Trp;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1570C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_12..2016;ALL_SUBMITTERS=Athena_Diagnostics_Inc;SUBMITTERS_ORDERED=Athena_Diagnostics_Inc;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=26467025;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-12 1 978856 . G A . . START=978856;STOP=978856;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263164;RCV=RCV000249242;SCV=SCV000317012;ALLELE_ID=249314;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1603+19G>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1603+19G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 978974 . G A . . START=978974;STOP=978974;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263165;RCV=RCV000254010;SCV=SCV000317013;ALLELE_ID=249315;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1660G>A;HGVS_P=NP_940978.2:p.Val554Met;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1660G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_23..2017;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 +1 978974 . G A . . START=978974;STOP=978974;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263165;RCV=RCV000254010|RCV000514542|RCV000541064;SCV=SCV000317013|SCV000609853|SCV000653879;ALLELE_ID=249315;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1660G>A;HGVS_P=NP_940978.2:p.Val554Met;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1660G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_26..2017;ALL_SUBMITTERS=PreventionGenetics|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_provided|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN517202|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-02-23|2017-07-26 +1 979035 . A T . . START=979035;STOP=979035;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474102;RCV=RCV000553694;SCV=SCV000653880;ALLELE_ID=447013;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1721A>T;HGVS_P=NP_940978.2:p.Tyr574Phe;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1721A>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_06..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-01-06 1 979310 . G A . . START=979310;STOP=979310;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390111;RCV=RCV000443642;SCV=SCV000532853;ALLELE_ID=364314;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1906G>A;HGVS_P=NP_940978.2:p.Gly636Ser;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1906G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_20..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-20 -1 979397 . G A . . START=979397;STOP=979397;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210106;RCV=RCV000192681;SCV=SCV000317014|SCV000246336;ALLELE_ID=206692;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1993G>A;HGVS_P=NP_940978.2:p.Glu665Lys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1993G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Feb_13..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-04-30|0000-00-00 -1 979514 . C G . . START=979514;STOP=979514;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128293;RCV=RCV000116255;SCV=SCV000317016|SCV000150173;ALLELE_ID=133742;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2025C>G;HGVS_P=NP_940978.2:p.Gly675_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2025C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00 -1 979556 . G A . . START=979556;STOP=979556;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263167;RCV=RCV000245482;SCV=SCV000317017;ALLELE_ID=249316;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2067G>A;HGVS_P=NP_940978.2:p.Gln689_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2067G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 979748 . A T . . START=979748;STOP=979748;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128294;RCV=RCV000116256;SCV=SCV000519187|SCV000317018|SCV000150174;ALLELE_ID=133743;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2183A>T;HGVS_P=NP_940978.2:p.Glu728Val;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2183A>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=May_26..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-05-26 +1 979397 . G A . . START=979397;STOP=979397;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210106;RCV=RCV000192681|RCV000525581;SCV=SCV000317014|SCV000246336|SCV000653881;ALLELE_ID=206692;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.1993G>A;HGVS_P=NP_940978.2:p.Glu665Lys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.1993G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_01..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-02-13|0000-00-00|2017-05-01 +1 979514 . C G . . START=979514;STOP=979514;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128293;RCV=RCV000116255|RCV000542722;SCV=SCV000317016|SCV000150173|SCV000653882;ALLELE_ID=133742;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2025C>G;HGVS_P=NP_940978.2:p.Gly675_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2025C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Aug_02..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-08-02 +1 979556 . G A . . START=979556;STOP=979556;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263167;RCV=RCV000245482|RCV000555033;SCV=SCV000317017|SCV000653883;ALLELE_ID=249316;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2067G>A;HGVS_P=NP_940978.2:p.Gln689_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2067G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_19..2017;ALL_SUBMITTERS=PreventionGenetics|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-07-19 +1 979559 . C T . . START=979559;STOP=979559;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474103;RCV=RCV000531210;SCV=SCV000653884;ALLELE_ID=447019;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2070C>T;HGVS_P=NP_940978.2:p.Arg690_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2070C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_26..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-05-26 +1 979748 . A T . . START=979748;STOP=979748;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128294;RCV=RCV000116256|RCV000542916;SCV=SCV000519187|SCV000317018|SCV000150174|SCV000653885;ALLELE_ID=133743;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2183A>T;HGVS_P=NP_940978.2:p.Glu728Val;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2183A>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=4;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_28..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=18414213|25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2013-08-15|0000-00-00|2016-05-26|2017-07-28 1 979835 . G A . . START=979835;STOP=979835;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263168;RCV=RCV000242021;SCV=SCV000317019;ALLELE_ID=249317;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2254+16G>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2254+16G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 980552 . G A . . START=980552;STOP=980552;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263169;RCV=RCV000245180;SCV=SCV000317020;ALLELE_ID=249318;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2266G>A;HGVS_P=NP_940978.2:p.Ala756Thr;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2266G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 +1 980552 . G A . . START=980552;STOP=980552;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263169;RCV=RCV000245180|RCV000555482;SCV=SCV000317020|SCV000653886;ALLELE_ID=249318;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2266G>A;HGVS_P=NP_940978.2:p.Ala756Thr;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2266G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_01..2016;ALL_SUBMITTERS=PreventionGenetics|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2016-12-01 1 980557 . G A . . START=980557;STOP=980557;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263170;RCV=RCV000249944;SCV=SCV000317021;ALLELE_ID=249319;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2271G>A;HGVS_P=NP_940978.2:p.Pro757_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2271G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 1 980669 . A G . . START=980669;STOP=980669;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387477;RCV=RCV000419115;SCV=SCV000529533;ALLELE_ID=364327;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2371+12A>G;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2371+12A>G:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-15 -1 980773 . C T . . START=980773;STOP=980773;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128295;RCV=RCV000116257;SCV=SCV000317022|SCV000150175;ALLELE_ID=133744;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2406C>T;HGVS_P=NP_940978.2:p.Gly802_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2406C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00 -1 980824 . G C . . START=980824;STOP=980824;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=190974;RCV=RCV000246474;SCV=SCV000317023|SCV000221340;ALLELE_ID=188780;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2457G>C;HGVS_P=NP_940978.2:p.Gly819_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2457G>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_28..2016;ALL_SUBMITTERS=PreventionGenetics|Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_&_Research_Centre;SUBMITTERS_ORDERED=Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_&_Research_Centre|PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-28|0000-00-00 +1 980773 . C T . . START=980773;STOP=980773;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128295;RCV=RCV000116257|RCV000531365;SCV=SCV000317022|SCV000150175|SCV000653887;ALLELE_ID=133744;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2406C>T;HGVS_P=NP_940978.2:p.Gly802_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2406C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Aug_02..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-08-02 +1 980791 . C T . . START=980791;STOP=980791;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474104;RCV=RCV000543993;SCV=SCV000653888;ALLELE_ID=447014;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2424C>T;HGVS_P=NP_940978.2:p.Ala808_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2424C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2016-10-26 +1 980824 . G C . . START=980824;STOP=980824;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=190974;RCV=RCV000246474|RCV000556816;SCV=SCV000317023|SCV000221340|SCV000653889;ALLELE_ID=188780;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2457G>C;HGVS_P=NP_940978.2:p.Gly819_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2457G>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2017;ALL_SUBMITTERS=PreventionGenetics|Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_&_Research_Centre|Invitae;SUBMITTERS_ORDERED=Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_&_Research_Centre|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2016-09-28|0000-00-00|2017-08-11 1 980840 . C T . . START=980840;STOP=980840;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210107;RCV=RCV000194095;SCV=SCV000246337;ALLELE_ID=206693;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2473C>T;HGVS_P=NP_940978.2:p.Arg825Cys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2473C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_14..2015;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-01-14 1 980866 . T C . . START=980866;STOP=980866;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=389918;RCV=RCV000443602;SCV=SCV000532604;ALLELE_ID=364329;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2499T>C;HGVS_P=NP_940978.2:p.Phe833_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2499T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_12..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-12 -1 980868 . G A . . START=980868;STOP=980868;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387869;RCV=RCV000424274;SCV=SCV000530043;ALLELE_ID=364336;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2501G>A;HGVS_P=NP_940978.2:p.Arg834Gln;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2501G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-21 +1 980868 . G A . . START=980868;STOP=980868;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387869;RCV=RCV000424274|RCV000545330;SCV=SCV000530043|SCV000653891;ALLELE_ID=364336;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2501G>A;HGVS_P=NP_940978.2:p.Arg834Gln;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2501G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_09..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-10-09|2017-07-17 +1 980875 . C T . . START=980875;STOP=980875;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474105;RCV=RCV000533002;SCV=SCV000653890;ALLELE_ID=446970;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2508C>T;HGVS_P=NP_940978.2:p.Ile836_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2508C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_25..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-07-25 +1 980881 . C T . . START=980881;STOP=980881;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474106;RCV=RCV000557874;SCV=SCV000653892;ALLELE_ID=446945;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2514C>T;HGVS_P=NP_940978.2:p.Thr838_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2514C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_02..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-05-02 1 980948 . C T . . START=980948;STOP=980948;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263171;RCV=RCV000252843;SCV=SCV000317024;ALLELE_ID=249320;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2536+45C>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2536+45C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 1 981087 . A G . . START=981087;STOP=981087;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263172;RCV=RCV000243014;SCV=SCV000317025;ALLELE_ID=249321;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2537-26A>G;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2537-26A>G:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 981131 . A G . . START=981131;STOP=981131;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263173;RCV=RCV000247794;SCV=SCV000317026;ALLELE_ID=249322;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2555A>G;HGVS_P=NP_940978.2:p.Gln852Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2555A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 +1 981131 . A G . . START=981131;STOP=981131;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263173;RCV=RCV000247794|RCV000537771;SCV=SCV000317026|SCV000653893;ALLELE_ID=249322;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2555A>G;HGVS_P=NP_940978.2:p.Gln852Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2555A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2017;ALL_SUBMITTERS=PreventionGenetics|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-08-11 1 981165 . G A . . START=981165;STOP=981165;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263174;RCV=RCV000252551;SCV=SCV000317027;ALLELE_ID=249323;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2589G>A;HGVS_P=NP_940978.2:p.Thr863_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2589G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 1 981226 . C T . . START=981226;STOP=981226;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390809;RCV=RCV000425529;SCV=SCV000533733;ALLELE_ID=364315;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2650C>T;HGVS_P=NP_940978.2:p.Arg884Cys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2650C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_18..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-18 +1 981227 . G A . . START=981227;STOP=981227;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474107;RCV=RCV000558118;SCV=SCV000653895;ALLELE_ID=447023;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2651G>A;HGVS_P=NP_940978.2:p.Arg884His;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2651G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_26..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-05-26 1 981328 . C G . . START=981328;STOP=981328;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263175;RCV=RCV000249068;SCV=SCV000317029;ALLELE_ID=249324;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2681-16C>G;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2681-16C>G:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 981345 . C T . . START=981345;STOP=981345;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263176;RCV=RCV000252248;SCV=SCV000317030;ALLELE_ID=249325;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2682C>T;HGVS_P=NP_940978.2:p.Asp894_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2682C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 981353 . C T . . START=981353;STOP=981353;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=235570;RCV=RCV000224244;SCV=SCV000281252;ALLELE_ID=237251;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2690C>T;HGVS_P=NP_940978.2:p.Ala897Val;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2690C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_21..2015;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2015-12-21-06:00 +1 981345 . C T . . START=981345;STOP=981345;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263176;RCV=RCV000252248|RCV000534291;SCV=SCV000317030|SCV000653896;ALLELE_ID=249325;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2682C>T;HGVS_P=NP_940978.2:p.Asp894_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2682C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_25..2017;ALL_SUBMITTERS=PreventionGenetics|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-07-25 +1 981353 . C T . . START=981353;STOP=981353;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=235570;RCV=RCV000224244|RCV000517312|RCV000551727;SCV=SCV000281252|SCV000612297|SCV000653897;ALLELE_ID=237251;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2690C>T;HGVS_P=NP_940978.2:p.Ala897Val;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2690C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_28..2017;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics|Athena_Diagnostics_Inc|Invitae;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics|Athena_Diagnostics_Inc|Invitae;ALL_TRAITS=not_provided|not_specified|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|26467025|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN517202|MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2015-12-21|2017-03-24|2017-03-28 +1 981376 . C T . . START=981376;STOP=981376;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474108;RCV=RCV000527891;SCV=SCV000653898;ALLELE_ID=447015;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2713C>T;HGVS_P=NP_940978.2:p.Arg905Cys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2713C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_26..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-04-26 +1 981400 . G A . . START=981400;STOP=981400;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474109;RCV=RCV000540198;SCV=SCV000653899;ALLELE_ID=447029;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2737G>A;HGVS_P=NP_940978.2:p.Val913Met;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2737G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_08..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2016-11-08 1 981459 . C T . . START=981459;STOP=981459;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263177;RCV=RCV000244043;SCV=SCV000317031;ALLELE_ID=249326;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2796C>T;HGVS_P=NP_940978.2:p.Asn932_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2796C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 981475 . G A . . START=981475;STOP=981475;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=434107;RCV=RCV000500875;SCV=SCV000593069;ALLELE_ID=427605;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2805+7G>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2805+7G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_02..2016;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-02 +1 981475 . G A . . START=981475;STOP=981475;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=434107;RCV=RCV000500875|RCV000548272;SCV=SCV000593069|SCV000653900;ALLELE_ID=427605;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2805+7G>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2805+7G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_23..2016;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|Invitae;ALL_TRAITS=not_specified|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2016-09-02|2016-11-23 +1 981535 . C T . . START=981535;STOP=981535;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474110;RCV=RCV000528205;SCV=SCV000653901;ALLELE_ID=447031;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2806-5C>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2806-5C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-01-19 +1 981852 . C A . . START=981852;STOP=981852;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474111;RCV=RCV000540503;SCV=SCV000653902;ALLELE_ID=447017;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.2987C>A;HGVS_P=NP_940978.2:p.Ala996Glu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.2987C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_31..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-07-31 1 981868 . C T . . START=981868;STOP=981868;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263178;RCV=RCV000248800;SCV=SCV000317032;ALLELE_ID=249327;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3003C>T;HGVS_P=NP_940978.2:p.Pro1001_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3003C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 +1 981904 . C T . . START=981904;STOP=981904;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474112;RCV=RCV000553127;SCV=SCV000653903;ALLELE_ID=446946;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3039C>T;HGVS_P=NP_940978.2:p.His1013_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3039C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_28..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-04-28 +1 981911 . A G . . START=981911;STOP=981911;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474113;RCV=RCV000529551;SCV=SCV000653904;ALLELE_ID=447026;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3046A>G;HGVS_P=NP_940978.2:p.Thr1016Ala;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3046A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_06..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-06 1 981931 . A G . . START=981931;STOP=981931;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128297;RCV=RCV000116259;SCV=SCV000519172|SCV000317033|SCV000150177;ALLELE_ID=133746;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3066A>G;HGVS_P=NP_940978.2:p.Ser1022_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3066A>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-01-19 -1 981942 . C A . . START=981942;STOP=981942;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263179;RCV=RCV000245361;SCV=SCV000317034;ALLELE_ID=249328;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3077C>A;HGVS_P=NP_940978.2:p.Thr1026Asn;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3077C>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_23..2017;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 +1 981942 . C A . . START=981942;STOP=981942;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263179;RCV=RCV000245361|RCV000514069|RCV000542147;SCV=SCV000317034|SCV000609941|SCV000653905;ALLELE_ID=249328;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3077C>A;HGVS_P=NP_940978.2:p.Thr1026Asn;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3077C>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_26..2017;ALL_SUBMITTERS=PreventionGenetics|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_provided|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN517202|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-02-23|2017-07-26 +1 982018 . C T . . START=982018;STOP=982018;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474114;RCV=RCV000554460;SCV=SCV000653906;ALLELE_ID=447034;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3153C>T;HGVS_P=NP_940978.2:p.Ser1051_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3153C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_19..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-07-19 1 982204 . C T . . START=982204;STOP=982204;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387478;RCV=RCV000429389;SCV=SCV000529534;ALLELE_ID=364294;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3255C>T;HGVS_P=NP_940978.2:p.Leu1085_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3255C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-15 -1 982213 . G C . . START=982213;STOP=982213;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128298;RCV=RCV000116260|RCV000431747;SCV=SCV000150178|SCV000317035|SCV000511644;ALLELE_ID=133747;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3264G>C;HGVS_P=NP_940978.2:p.Leu1088Phe;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3264G>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jan_02..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN221809;DATES_ORDERED=0000-00-00|2017-01-02-06:00 +1 982213 . G C . . START=982213;STOP=982213;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128298;RCV=RCV000116260|RCV000431747|RCV000530637;SCV=SCV000150178|SCV000612298|SCV000317035|SCV000511644|SCV000653907;ALLELE_ID=133747;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3264G>C;HGVS_P=NP_940978.2:p.Leu1088Phe;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3264G>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Aug_02..2017;ALL_SUBMITTERS=PreventionGenetics|Athena_Diagnostics_Inc|Genetic_Services_Laboratory..University_of_Chicago|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Athena_Diagnostics_Inc|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_provided|Myasthenic_syndrome..congenital..8;ALL_PMIDS=19631309|25741868|26467025|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN517202|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2016-11-07|2017-01-02|2017-08-02 +1 982225 . C T . . START=982225;STOP=982225;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474115;RCV=RCV000546931;SCV=SCV000653908;ALLELE_ID=447043;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3276C>T;HGVS_P=NP_940978.2:p.Ser1092_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3276C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_03..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-07-03 1 982234 . C G . . START=982234;STOP=982234;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=434108;RCV=RCV000502690;SCV=SCV000593070;ALLELE_ID=427606;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3285C>G;HGVS_P=NP_940978.2:p.Thr1095_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3285C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_11..2016;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-04-11 +1 982302 . C A . . START=982302;STOP=982302;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474116;RCV=RCV000559489;SCV=SCV000653909;ALLELE_ID=446971;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3353C>A;HGVS_P=NP_940978.2:p.Thr1118Lys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3353C>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_19..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-05-19 +1 982336 . C T . . START=982336;STOP=982336;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474117;RCV=RCV000530806;SCV=SCV000653910;ALLELE_ID=446948;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3387C>T;HGVS_P=NP_940978.2:p.Pro1129_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3387C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_06..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-06 1 982356 . G A . . START=982356;STOP=982356;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263180;RCV=RCV000253262;SCV=SCV000317036;ALLELE_ID=249329;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3388+19G>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3388+19G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 982722 . A G . . START=982722;STOP=982722;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128299;RCV=RCV000116261;SCV=SCV000150179|SCV000317037;ALLELE_ID=133748;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3404A>G;HGVS_P=NP_940978.2:p.Gln1135Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3404A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00 -1 982783 . T C . . START=982783;STOP=982783;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128300;RCV=RCV000116262;SCV=SCV000317038|SCV000150180;ALLELE_ID=133749;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3465T>C;HGVS_P=NP_940978.2:p.Ala1155_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3465T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00 +1 982722 . A G . . START=982722;STOP=982722;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128299;RCV=RCV000116261|RCV000543419;SCV=SCV000150179|SCV000317037|SCV000653911;ALLELE_ID=133748;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3404A>G;HGVS_P=NP_940978.2:p.Gln1135Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3404A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-08-11 +1 982774 . C T . . START=982774;STOP=982774;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474118;RCV=RCV000560784;SCV=SCV000653912;ALLELE_ID=446952;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3456C>T;HGVS_P=NP_940978.2:p.Pro1152_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3456C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_17..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-07-17 +1 982783 . T C . . START=982783;STOP=982783;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128300;RCV=RCV000116262|RCV000536981;SCV=SCV000317038|SCV000150180|SCV000612299|SCV000653913;ALLELE_ID=133749;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3465T>C;HGVS_P=NP_940978.2:p.Ala1155_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3465T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_26..2017;ALL_SUBMITTERS=PreventionGenetics|Athena_Diagnostics_Inc|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Athena_Diagnostics_Inc|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|26467025|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2016-11-07|2017-07-26 1 982844 . G C . . START=982844;STOP=982844;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128301;RCV=RCV000116263;SCV=SCV000519306|SCV000317039|SCV000150181|SCV000221341;ALLELE_ID=133750;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3516+10G>C;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3516+10G>C:intron_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|likely_benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_28..2016;ALL_SUBMITTERS=GeneDx|PreventionGenetics|Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_&_Research_Centre|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|Developmental_Genetics_Unit..King_Faisal_Specialist_Hospital_&_Research_Centre|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-09-28|0000-00-00|2016-02-04 1 982941 . T C . . START=982941;STOP=982941;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263181;RCV=RCV000246305;SCV=SCV000519173|SCV000317040;ALLELE_ID=249331;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3517-12T>C;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3517-12T>C:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-01-19 +1 982979 . C T . . START=982979;STOP=982979;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474119;RCV=RCV000549332;SCV=SCV000653914;ALLELE_ID=447038;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3543C>T;HGVS_P=NP_940978.2:p.Asp1181_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3543C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_13..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-13 1 982994 . T C . . START=982994;STOP=982994;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128302;RCV=RCV000116264;SCV=SCV000150182|SCV000317041|SCV000519174;ALLELE_ID=133751;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3558T>C;HGVS_P=NP_940978.2:p.Phe1186_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3558T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-01-19 -1 983006 . C T . . START=983006;STOP=983006;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128303;RCV=RCV000116265;SCV=SCV000150183|SCV000317042;ALLELE_ID=133752;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3570C>T;HGVS_P=NP_940978.2:p.Arg1190_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3570C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00 -1 983221 . C T . . START=983221;STOP=983221;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390183;RCV=RCV000438400;SCV=SCV000532953;ALLELE_ID=364341;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3697C>T;HGVS_P=NP_940978.2:p.Arg1233Trp;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3697C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_27..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-27 -1 983243 . C T . . START=983243;STOP=983243;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263182;RCV=RCV000247622;SCV=SCV000317043;ALLELE_ID=249332;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3719C>T;HGVS_P=NP_940978.2:p.Pro1240Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3719C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 +1 983006 . C T . . START=983006;STOP=983006;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128303;RCV=RCV000116265|RCV000557303;SCV=SCV000150183|SCV000317042|SCV000653915;ALLELE_ID=133752;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3570C>T;HGVS_P=NP_940978.2:p.Arg1190_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3570C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=May_30..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-05-30 +1 983011 . G A . . START=983011;STOP=983011;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474121;RCV=RCV000549876;SCV=SCV000653917;ALLELE_ID=447046;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3575G>A;HGVS_P=NP_940978.2:p.Arg1192Gln;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3575G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_11..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-07-11 +1 983194 . C T . . START=983194;STOP=983194;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474122;RCV=RCV000525731;SCV=SCV000653918;ALLELE_ID=447042;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3670C>T;HGVS_P=NP_940978.2:p.Leu1224Phe;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3670C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_05..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-05 +1 983218 . C A . . START=983218;STOP=983218;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474123;RCV=RCV000538314;SCV=SCV000653919;ALLELE_ID=447048;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3694C>A;HGVS_P=NP_940978.2:p.Arg1232Ser;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3694C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_26..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-04-26 +1 983221 . C T . . START=983221;STOP=983221;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390183;RCV=RCV000438400|RCV000551217;SCV=SCV000532953|SCV000653920;ALLELE_ID=364341;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3697C>T;HGVS_P=NP_940978.2:p.Arg1233Trp;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3697C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_26..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2016-10-27|2017-05-26 +1 983222 . G A . . START=983222;STOP=983222;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474124;RCV=RCV000527356;SCV=SCV000653921;ALLELE_ID=447054;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3698G>A;HGVS_P=NP_940978.2:p.Arg1233Gln;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3698G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_26..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-04-26 +1 983243 . C T . . START=983243;STOP=983243;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263182;RCV=RCV000247622|RCV000539671;SCV=SCV000317043|SCV000653922;ALLELE_ID=249332;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3719C>T;HGVS_P=NP_940978.2:p.Pro1240Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3719C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_11..2017;ALL_SUBMITTERS=PreventionGenetics|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-05-11 1 983256 . C T . . START=983256;STOP=983256;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210108;RCV=RCV000195120;SCV=SCV000317044|SCV000246338;ALLELE_ID=206694;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3732C>T;HGVS_P=NP_940978.2:p.His1244_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3732C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Aug_06..2014;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-08-06|0000-00-00 1 983386 . C T . . START=983386;STOP=983386;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210109;RCV=RCV000192787;SCV=SCV000246339;ALLELE_ID=206695;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3752-6C>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3752-6C>T:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_12..2015;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-06-12 +1 983413 . C T . . START=983413;STOP=983413;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474125;RCV=RCV000552295;SCV=SCV000653923;ALLELE_ID=446955;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3773C>T;HGVS_P=NP_940978.2:p.Thr1258Met;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3773C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_30..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-05-30 +1 983423 . G A . . START=983423;STOP=983423;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474126;RCV=RCV000532144;SCV=SCV000653924;ALLELE_ID=446956;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3783G>A;HGVS_P=NP_940978.2:p.Thr1261_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3783G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_16..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-16 1 983459 . C T . . START=983459;STOP=983459;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390522;RCV=RCV000426153;SCV=SCV000533375;ALLELE_ID=364331;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3819C>T;HGVS_P=NP_940978.2:p.Ala1273_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3819C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_10..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-10 1 983496 . C A . . START=983496;STOP=983496;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=434109;RCV=RCV000504469;SCV=SCV000593071;ALLELE_ID=427607;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3856C>A;HGVS_P=NP_940978.2:p.Pro1286Thr;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3856C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_02..2017;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-02 -1 983506 . C T . . START=983506;STOP=983506;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128304;RCV=RCV000116266;SCV=SCV000317045|SCV000150184;ALLELE_ID=133753;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3866C>T;HGVS_P=NP_940978.2:p.Pro1289Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3866C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00 -1 983604 . C T . . START=983604;STOP=983604;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128305;RCV=RCV000116267;SCV=SCV000317046|SCV000150185;ALLELE_ID=133754;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3964C>T;HGVS_P=NP_940978.2:p.Arg1322Trp;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3964C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00 -1 983612 . G A . . START=983612;STOP=983612;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128306;RCV=RCV000116268;SCV=SCV000317047|SCV000150186;ALLELE_ID=133755;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3972G>A;HGVS_P=NP_940978.2:p.Pro1324_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3972G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00 +1 983499 . C T . . START=983499;STOP=983499;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474127;RCV=RCV000540137;SCV=SCV000653925;ALLELE_ID=447050;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3859C>T;HGVS_P=NP_940978.2:p.Arg1287Trp;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3859C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_17..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-04-17 +1 983506 . C T . . START=983506;STOP=983506;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128304;RCV=RCV000116266|RCV000552486;SCV=SCV000317045|SCV000612300|SCV000150184|SCV000653926;ALLELE_ID=133753;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3866C>T;HGVS_P=NP_940978.2:p.Pro1289Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3866C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_26..2017;ALL_SUBMITTERS=PreventionGenetics|Athena_Diagnostics_Inc|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Athena_Diagnostics_Inc|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|26467025|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2016-11-07|2017-07-26 +1 983507 . G A . . START=983507;STOP=983507;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474120;RCV=RCV000537189;SCV=SCV000653916;ALLELE_ID=446973;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3867G>A;HGVS_P=NP_940978.2:p.Pro1289_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3867G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_17..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-07-17 +1 983566 . G A . . START=983566;STOP=983566;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474128;RCV=RCV000533178;SCV=SCV000653927;ALLELE_ID=447069;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3926G>A;HGVS_P=NP_940978.2:p.Arg1309Gln;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3926G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_03..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-04-03 +1 983604 . C T . . START=983604;STOP=983604;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128305;RCV=RCV000116267|RCV000546079;SCV=SCV000317046|SCV000150185|SCV000653928;ALLELE_ID=133754;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3964C>T;HGVS_P=NP_940978.2:p.Arg1322Trp;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3964C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jun_22..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-06-22 +1 983612 . G A . . START=983612;STOP=983612;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128306;RCV=RCV000116268|RCV000554114;SCV=SCV000317047|SCV000150186|SCV000653929;ALLELE_ID=133755;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.3972G>A;HGVS_P=NP_940978.2:p.Pro1324_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.3972G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jun_22..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-06-22 1 984257 . C T . . START=984257;STOP=984257;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=210110;RCV=RCV000193826;SCV=SCV000246340;ALLELE_ID=206696;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4116C>T;HGVS_P=NP_940978.2:p.Ala1372_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4116C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_04..2015;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-05-04 1 984261 . G T . . START=984261;STOP=984261;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=389927;RCV=RCV000438345;SCV=SCV000532615;ALLELE_ID=364318;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4120G>T;HGVS_P=NP_940978.2:p.Val1374Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4120G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_13..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-13 -1 984272 . C T . . START=984272;STOP=984272;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392687;RCV=RCV000445318;SCV=SCV000535996;ALLELE_ID=364322;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4131C>T;HGVS_P=NP_940978.2:p.Phe1377_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4131C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_10..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-10 +1 984272 . C T . . START=984272;STOP=984272;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392687;RCV=RCV000445318|RCV000529978;SCV=SCV000535996|SCV000653930;ALLELE_ID=364322;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4131C>T;HGVS_P=NP_940978.2:p.Phe1377_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4131C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_27..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-01-10|2017-07-27 1 984302 . T C . . START=984302;STOP=984302;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128307;RCV=RCV000116269;SCV=SCV000519276|SCV000150187|SCV000317048;ALLELE_ID=133756;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4161T>C;HGVS_P=NP_940978.2:p.Thr1387_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4161T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-01-19 -1 984426 . C T . . START=984426;STOP=984426;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263183;RCV=RCV000248636;SCV=SCV000317049;ALLELE_ID=249333;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4285C>T;HGVS_P=NP_940978.2:p.Arg1429Cys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4285C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 +1 984324 . C T . . START=984324;STOP=984324;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474129;RCV=RCV000547145;SCV=SCV000653931;ALLELE_ID=447070;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4183C>T;HGVS_P=NP_940978.2:p.Arg1395Cys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4183C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_14..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-02-14 +1 984413 . G A . . START=984413;STOP=984413;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474130;RCV=RCV000558841;SCV=SCV000653932;ALLELE_ID=446962;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4272G>A;HGVS_P=NP_940978.2:p.Ala1424_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4272G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_11..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-04-11 +1 984426 . C T . . START=984426;STOP=984426;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263183;RCV=RCV000248636|RCV000534784;SCV=SCV000317049|SCV000612301|SCV000653933;ALLELE_ID=249333;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4285C>T;HGVS_P=NP_940978.2:p.Arg1429Cys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4285C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_25..2017;ALL_SUBMITTERS=PreventionGenetics|Athena_Diagnostics_Inc|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Athena_Diagnostics_Inc|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|26467025|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-07-25|2017-04-26 +1 984445 . C T . . START=984445;STOP=984445;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474131;RCV=RCV000542837;SCV=SCV000653934;ALLELE_ID=447053;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4298+6C>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4298+6C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_22..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-22 1 984450 . A T . . START=984450;STOP=984450;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263184;RCV=RCV000251783;SCV=SCV000317050;ALLELE_ID=249334;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4298+11A>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4298+11A>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 1 984456 . C T . . START=984456;STOP=984456;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387479;RCV=RCV000440496;SCV=SCV000529535;ALLELE_ID=364323;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4298+17C>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4298+17C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-26 -1 984669 . C T . . START=984669;STOP=984669;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263185;RCV=RCV000243502;SCV=SCV000317051|SCV000593072;ALLELE_ID=249335;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4352C>T;HGVS_P=NP_940978.2:p.Pro1451Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4352C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Dec_23..2016;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-12-23 -1 984769 . C T . . START=984769;STOP=984769;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128308;RCV=RCV000116270;SCV=SCV000317052|SCV000150188;ALLELE_ID=133757;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4452C>T;HGVS_P=NP_940978.2:p.Thr1484_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4452C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00 +1 984637 . G A . . START=984637;STOP=984637;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474132;RCV=RCV000560225;SCV=SCV000653935;ALLELE_ID=446965;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4320G>A;HGVS_P=NP_940978.2:p.Pro1440_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4320G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_12..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-07-12 +1 984640 . G A . . START=984640;STOP=984640;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=487335;RCV=RCV000576290;SCV=SCV000677101;ALLELE_ID=446975;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4323G>A;HGVS_P=NP_940978.2:p.Ala1441_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4323G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_25..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-07-25 +1 984669 . C T . . START=984669;STOP=984669;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263185;RCV=RCV000243502|RCV000533961;SCV=SCV000317051|SCV000593072|SCV000653936;ALLELE_ID=249335;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4352C>T;HGVS_P=NP_940978.2:p.Pro1451Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4352C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=3;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_28..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2016-12-23|2017-07-28 +1 984696 . C A . . START=984696;STOP=984696;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474133;RCV=RCV000546585;SCV=SCV000653937;ALLELE_ID=447074;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4379C>A;HGVS_P=NP_940978.2:p.Ser1460Tyr;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4379C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_22..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-22 +1 984769 . C T . . START=984769;STOP=984769;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128308;RCV=RCV000116270|RCV000558276;SCV=SCV000317052|SCV000150188|SCV000653938;ALLELE_ID=133757;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4452C>T;HGVS_P=NP_940978.2:p.Thr1484_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4452C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Nov_23..2016;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2016-11-23 +1 984787 . C T . . START=984787;STOP=984787;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474134;RCV=RCV000534207;SCV=SCV000653939;ALLELE_ID=447077;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4470C>T;HGVS_P=NP_940978.2:p.Asp1490_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4470C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_08..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2016-11-08 1 984847 . G C . . START=984847;STOP=984847;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263186;RCV=RCV000253016;SCV=SCV000317053|SCV000526742;ALLELE_ID=249336;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4514+16G>C;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4514+16G>C:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_20..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-09-20 1 984949 . G A . . START=984949;STOP=984949;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263187;RCV=RCV000244907;SCV=SCV000317054;ALLELE_ID=249337;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4518G>A;HGVS_P=NP_940978.2:p.Ala1506_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4518G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 984971 . G A . . START=984971;STOP=984971;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128309;RCV=RCV000116271;SCV=SCV000150189|SCV000317055;ALLELE_ID=133758;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4540G>A;HGVS_P=NP_940978.2:p.Ala1514Thr;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4540G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_05..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00 -1 985070 . G A . . START=985070;STOP=985070;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=252808;RCV=RCV000238604;SCV=SCV000297407|SCV000593075|SCV000564550;ALLELE_ID=246856;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4639G>A;HGVS_P=NP_940978.2:p.Glu1547Lys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4639G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|uncertain_significance|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=3;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_23..2017;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|GeneDx|Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;SUBMITTERS_ORDERED=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified|not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline|unknown;XREFS=MedGen:CN169374;DATES_ORDERED=2015-09-18|2017-01-23|2015-09-21 -1 985126 . G C . . START=985126;STOP=985126;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387480;RCV=RCV000419307;SCV=SCV000529536;ALLELE_ID=364295;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4695G>C;HGVS_P=NP_940978.2:p.Gln1565His;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4695G>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-15 +1 984971 . G A . . START=984971;STOP=984971;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128309;RCV=RCV000116271|RCV000514020|RCV000551508;SCV=SCV000150189|SCV000317055|SCV000610743|SCV000653940;ALLELE_ID=133758;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4540G>A;HGVS_P=NP_940978.2:p.Ala1514Thr;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4540G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_25..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_provided|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN517202|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-07-05|2017-07-25 +1 985043 . G T . . START=985043;STOP=985043;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474135;RCV=RCV000527524;SCV=SCV000653941;ALLELE_ID=447078;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4612G>T;HGVS_P=NP_940978.2:p.Ala1538Ser;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4612G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_18..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-05-18 +1 985053 . G A . . START=985053;STOP=985053;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474136;RCV=RCV000535699;SCV=SCV000653942;ALLELE_ID=446978;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4622G>A;HGVS_P=NP_940978.2:p.Arg1541Gln;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4622G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_27..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-27 +1 985070 . G A . . START=985070;STOP=985070;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=252808;RCV=RCV000238604|RCV000548184;SCV=SCV000297407|SCV000593075|SCV000564550|SCV000653943;ALLELE_ID=246856;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4639G>A;HGVS_P=NP_940978.2:p.Glu1547Lys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4639G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=3;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_25..2017;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|GeneDx|Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia|Invitae;SUBMITTERS_ORDERED=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia|GeneDx|Genetic_Services_Laboratory..University_of_Chicago|Invitae;ALL_TRAITS=not_specified|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline|unknown;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2015-09-18|2017-09-25|2015-09-21|2017-06-29 +1 985082 . C T . . START=985082;STOP=985082;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474137;RCV=RCV000529000;SCV=SCV000653944;ALLELE_ID=446997;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4651C>T;HGVS_P=NP_940978.2:p.His1551Tyr;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4651C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_05..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2016-12-05 +1 985126 . G C . . START=985126;STOP=985126;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387480;RCV=RCV000419307|RCV000541465;SCV=SCV000529536|SCV000653945;ALLELE_ID=364295;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4695G>C;HGVS_P=NP_940978.2:p.Gln1565His;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4695G>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_05..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2016-07-15|2017-06-05 1 985162 . G A . . START=985162;STOP=985162;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=434110;RCV=RCV000502846;SCV=SCV000593073;ALLELE_ID=427608;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4731G>A;HGVS_P=NP_940978.2:p.Pro1577_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4731G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_01..2016;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-08-01 -1 985171 . C T . . START=985171;STOP=985171;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128311;RCV=RCV000116273;SCV=SCV000150191|SCV000317057;ALLELE_ID=133760;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4740C>T;HGVS_P=NP_940978.2:p.Arg1580_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4740C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00 +1 985171 . C T . . START=985171;STOP=985171;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128311;RCV=RCV000116273|RCV000553091;SCV=SCV000150191|SCV000612302|SCV000317057|SCV000653946;ALLELE_ID=133760;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4740C>T;HGVS_P=NP_940978.2:p.Arg1580_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4740C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Aug_02..2017;ALL_SUBMITTERS=PreventionGenetics|Athena_Diagnostics_Inc|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Athena_Diagnostics_Inc|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|26467025|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-07-24|2017-08-02 1 985266 . C T . . START=985266;STOP=985266;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263188;RCV=RCV000250964;SCV=SCV000519277|SCV000317058;ALLELE_ID=249338;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4745-17C>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4745-17C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-01-19 1 985307 . GCCCCTGCCAGCCCAA G . . START=985317;STOP=985331;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=291137;RCV=RCV000296346;SCV=SCV000345838;ALLELE_ID=275374;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA;HGVS_P=NP_940978.2:p.Gln1593_Cys1597del;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA:inframe_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_06..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-06 -1 985377 . C T . . START=985377;STOP=985377;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263189;RCV=RCV000254107;SCV=SCV000317059;ALLELE_ID=249339;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4839C>T;HGVS_P=NP_940978.2:p.Cys1613_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4839C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 985407 . C A . . START=985407;STOP=985407;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=282708;RCV=RCV000405008;SCV=SCV000334296;ALLELE_ID=266945;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4869C>A;HGVS_P=NP_940978.2:p.Phe1623Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4869C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_14..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-08-14 +1 985359 . C T . . START=985359;STOP=985359;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474138;RCV=RCV000524551;SCV=SCV000653947;ALLELE_ID=447081;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4821C>T;HGVS_P=NP_940978.2:p.Pro1607_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4821C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_30..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2016-11-30 +1 985377 . C T . . START=985377;STOP=985377;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263189;RCV=RCV000254107|RCV000541799;SCV=SCV000317059|SCV000653948;ALLELE_ID=249339;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4839C>T;HGVS_P=NP_940978.2:p.Cys1613_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4839C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_13..2017;ALL_SUBMITTERS=PreventionGenetics|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-06-13 +1 985378 . G A . . START=985378;STOP=985378;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474139;RCV=RCV000554546;SCV=SCV000653949;ALLELE_ID=446967;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4840G>A;HGVS_P=NP_940978.2:p.Glu1614Lys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4840G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_16..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-03-16 +1 985407 . C A . . START=985407;STOP=985407;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=282708;RCV=RCV000405008|RCV000530565;SCV=SCV000334296|SCV000653950;ALLELE_ID=266945;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4869C>A;HGVS_P=NP_940978.2:p.Phe1623Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4869C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_02..2017;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Invitae;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Invitae;ALL_TRAITS=not_specified|Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2015-08-14|2017-08-02 1 985434 . T A . . START=985434;STOP=985434;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263190;RCV=RCV000245933;SCV=SCV000317060;ALLELE_ID=249340;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4879+17T>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4879+17T>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 1 985446 . G T . . START=985446;STOP=985446;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263191;RCV=RCV000250684;SCV=SCV000317061;ALLELE_ID=249341;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4879+29G>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4879+29G>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 1 985449 . G A . . START=985449;STOP=985449;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263192;RCV=RCV000242423;SCV=SCV000317062;ALLELE_ID=249342;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4879+32G>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4879+32G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 985797 . A G . . START=985797;STOP=985797;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263193;RCV=RCV000247197;SCV=SCV000519188|SCV000317063;ALLELE_ID=249343;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4977-10A>G;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4977-10A>G:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jun_21..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-06-21 -1 985826 . G A . . START=985826;STOP=985826;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128312;RCV=RCV000116274;SCV=SCV000150192|SCV000317064|SCV000519308;ALLELE_ID=133761;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4996G>A;HGVS_P=NP_940978.2:p.Val1666Ile;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4996G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00|2016-07-15 +1 985626 . C T . . START=985626;STOP=985626;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474140;RCV=RCV000538720;SCV=SCV000653951;ALLELE_ID=447087;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4893C>T;HGVS_P=NP_940978.2:p.Asp1631_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4893C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_17..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-07-17 +1 985700 . G A . . START=985700;STOP=985700;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=451650;RCV=RCV000520546;SCV=SCV000620373;ALLELE_ID=442574;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4967G>A;HGVS_P=NP_940978.2:p.Arg1656Gln;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4967G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_24..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-08-24 +1 985797 . A G . . START=985797;STOP=985797;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263193;RCV=RCV000247197|RCV000530930;SCV=SCV000519188|SCV000317063|SCV000653953;ALLELE_ID=249343;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4977-10A>G;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4977-10A>G:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_28..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2016-06-21|2017-07-28 +1 985826 . G A . . START=985826;STOP=985826;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128312;RCV=RCV000116274|RCV000543394;SCV=SCV000150192|SCV000317064|SCV000519308|SCV000653954;ALLELE_ID=133761;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.4996G>A;HGVS_P=NP_940978.2:p.Val1666Ile;MOLECULAR_CONSEQUENCE=NM_198576.3:c.4996G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Aug_09..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2016-07-15|2017-08-09 1 985853 . G A . . START=985853;STOP=985853;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=243039;RCV=RCV000235025;SCV=SCV000292409;ALLELE_ID=244113;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5023G>A;HGVS_P=NP_940978.2:p.Gly1675Ser;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5023G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2016-07-14 -1 985855 . C T . . START=985855;STOP=985855;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263194;RCV=RCV000242085;SCV=SCV000532854|SCV000317065;ALLELE_ID=249344;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5025C>T;HGVS_P=NP_940978.2:p.Gly1675_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5025C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Nov_11..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-11-11 -1 985900 . C T . . START=985900;STOP=985900;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128313;RCV=RCV000116275;SCV=SCV000317066|SCV000150193|SCV000531981;ALLELE_ID=133762;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5070C>T;HGVS_P=NP_940978.2:p.Phe1690_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5070C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-10-26 +1 985855 . C T . . START=985855;STOP=985855;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263194;RCV=RCV000242085|RCV000560640;SCV=SCV000532854|SCV000317065|SCV000653955;ALLELE_ID=249344;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5025C>T;HGVS_P=NP_940978.2:p.Gly1675_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5025C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_14..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2016-11-11|2017-07-14 +1 985870 . C T . . START=985870;STOP=985870;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474142;RCV=RCV000532119;SCV=SCV000653956;ALLELE_ID=447099;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5040C>T;HGVS_P=NP_940978.2:p.Asn1680_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5040C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_18..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-07-18 +1 985900 . C T . . START=985900;STOP=985900;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128313;RCV=RCV000116275|RCV000544877;SCV=SCV000317066|SCV000150193|SCV000531981|SCV000653957;ALLELE_ID=133762;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5070C>T;HGVS_P=NP_940978.2:p.Phe1690_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5070C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=4;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_26..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=18414213|25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2013-08-15|0000-00-00|2016-10-26|2017-07-26 +1 985923 . G A . . START=985923;STOP=985923;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474143;RCV=RCV000557276;SCV=SCV000653958;ALLELE_ID=447011;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5093G>A;HGVS_P=NP_940978.2:p.Arg1698His;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5093G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_12..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-05-12 1 985955 . G C . . START=985955;STOP=985955;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=18241;RCV=RCV000019902|RCV000235029;SCV=SCV000040200|SCV000292410;ALLELE_ID=33280;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5125G>C;HGVS_P=NP_940978.2:p.Gly1709Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5125G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Myasthenic_syndrome..congenital..8|MYASTHENIC_SYNDROME..CONGENITAL..8|Congenital_myasthenic_syndrome;ALL_PMIDS=19631309|20301347;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2009-08-01|2016-07-14 1 986143 . G T . . START=986143;STOP=986143;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=126555;RCV=RCV000114427|RCV000235038;SCV=SCV000148369|SCV000292411;ALLELE_ID=132068;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5179G>T;HGVS_P=NP_940978.2:p.Val1727Phe;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5179G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=OMIM|GeneReviews;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Myasthenic_syndrome..congenital..8|MYASTHENIC_SYNDROME..CONGENITAL..8|Congenital_myasthenic_syndrome;ALL_PMIDS=20301347|22205389;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2012-07-01|2016-07-14 -1 986165 . G A . . START=986165;STOP=986165;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263195;RCV=RCV000251658;SCV=SCV000317067|SCV000532616;ALLELE_ID=249345;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5201G>A;HGVS_P=NP_940978.2:p.Arg1734His;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5201G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_13..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-10-13 +1 986165 . G A . . START=986165;STOP=986165;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263195;RCV=RCV000251658|RCV000538163;SCV=SCV000317067|SCV000532616|SCV000653959;ALLELE_ID=249345;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5201G>A;HGVS_P=NP_940978.2:p.Arg1734His;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5201G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_10..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-08-10|2017-08-04 +1 986187 . C T . . START=986187;STOP=986187;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474144;RCV=RCV000550632;SCV=SCV000653960;ALLELE_ID=447103;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5223C>T;HGVS_P=NP_940978.2:p.Gly1741_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5223C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-08-11 +1 986190 . C T . . START=986190;STOP=986190;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474145;RCV=RCV000557635;SCV=SCV000653961;ALLELE_ID=447012;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5226C>T;HGVS_P=NP_940978.2:p.Asp1742_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5226C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_21..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-02-21 +1 986628 . C T . . START=986628;STOP=986628;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474146;RCV=RCV000533690;SCV=SCV000653962;ALLELE_ID=447109;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5254-5C>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5254-5C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_23..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-23 +1 986637 . C T . . START=986637;STOP=986637;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474147;RCV=RCV000550981;SCV=SCV000653963;ALLELE_ID=447020;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5258C>T;HGVS_P=NP_940978.2:p.Pro1753Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5258C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_24..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-05-24 +1 986687 . G A . . START=986687;STOP=986687;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474148;RCV=RCV000526934;SCV=SCV000653964;ALLELE_ID=447056;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5308G>A;HGVS_P=NP_940978.2:p.Asp1770Asn;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5308G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_25..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-01-25 +1 986706 . G A . . START=986706;STOP=986706;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474149;RCV=RCV000539692;SCV=SCV000653965;ALLELE_ID=447059;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5327G>A;HGVS_P=NP_940978.2:p.Arg1776His;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5327G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_15..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-15 +1 986711 . G A . . START=986711;STOP=986711;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474150;RCV=RCV000547602;SCV=SCV000653966;ALLELE_ID=447111;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5332G>A;HGVS_P=NP_940978.2:p.Ala1778Thr;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5332G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_14..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-07-14 1 986716 . C T . . START=986716;STOP=986716;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263196;RCV=RCV000246601;SCV=SCV000317069;ALLELE_ID=249346;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5337C>T;HGVS_P=NP_940978.2:p.Ala1779_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5337C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 986731 . C T . . START=986731;STOP=986731;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263197;RCV=RCV000252836;SCV=SCV000317070;ALLELE_ID=249347;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5352C>T;HGVS_P=NP_940978.2:p.Phe1784_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5352C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 986732 . G A . . START=986732;STOP=986732;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128314;RCV=RCV000116276|RCV000244639;SCV=SCV000150194|SCV000528652|SCV000317071;ALLELE_ID=133763;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5353G>A;HGVS_P=NP_940978.2:p.Asp1785Asn;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5353G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_10..2017;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_provided|not_specified|NOT_SPECIFIED;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN169374;DATES_ORDERED=2013-08-23|0000-00-00|2017-01-10 +1 986731 . C T . . START=986731;STOP=986731;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263197;RCV=RCV000252836|RCV000528442;SCV=SCV000317070|SCV000653967;ALLELE_ID=249347;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5352C>T;HGVS_P=NP_940978.2:p.Phe1784_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5352C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_30..2017;ALL_SUBMITTERS=PreventionGenetics|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-05-30 +1 986732 . G A . . START=986732;STOP=986732;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128314;RCV=RCV000116276|RCV000244639|RCV000540887;SCV=SCV000150194|SCV000528652|SCV000317071|SCV000653968;ALLELE_ID=133763;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5353G>A;HGVS_P=NP_940978.2:p.Asp1785Asn;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5353G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_21..2017;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx|Invitae;ALL_TRAITS=not_provided|not_specified|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=18414213|25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN517202|MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2013-08-23|0000-00-00|2017-01-10|2017-07-21 1 986737 . T C . . START=986737;STOP=986737;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128315;RCV=RCV000116277;SCV=SCV000150195|SCV000317072|SCV000526743;ALLELE_ID=133764;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5358T>C;HGVS_P=NP_940978.2:p.Gly1786_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5358T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_20..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00|2016-09-20 1 986760 . G A . . START=986760;STOP=986760;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263198;RCV=RCV000254171;SCV=SCV000532617|SCV000317073;ALLELE_ID=249348;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5370+11G>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5370+11G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_13..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-10-13 1 986849 . G A . . START=986849;STOP=986849;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=424015;RCV=RCV000485746;SCV=SCV000573787;ALLELE_ID=404872;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5387G>A;HGVS_P=NP_940978.2:p.Arg1796His;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5387G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_07..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-03-07 +1 986884 . G A . . START=986884;STOP=986884;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474151;RCV=RCV000552514;SCV=SCV000653969;ALLELE_ID=447021;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5422G>A;HGVS_P=NP_940978.2:p.Val1808Met;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5422G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_26..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-05-26 +1 986978 . A G . . START=986978;STOP=986978;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474152;RCV=RCV000533071;SCV=SCV000653970;ALLELE_ID=447061;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5516A>G;HGVS_P=NP_940978.2:p.Tyr1839Cys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5516A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_25..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-04-25 +1 987012 . G A . . START=987012;STOP=987012;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474153;RCV=RCV000541245;SCV=SCV000653971;ALLELE_ID=447024;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5550G>A;HGVS_P=NP_940978.2:p.Pro1850_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5550G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_25..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-04-25 +1 987019 . G A . . START=987019;STOP=987019;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474154;RCV=RCV000553749;SCV=SCV000653972;ALLELE_ID=447063;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5557G>A;HGVS_P=NP_940978.2:p.Glu1853Lys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5557G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_29..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-05-29 1 987116 . G A . . START=987116;STOP=987116;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=397549;RCV=RCV000449559;SCV=SCV000537756;ALLELE_ID=384432;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5572G>A;HGVS_P=NP_940978.2:p.Glu1858Lys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5572G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_17..2016;ALL_SUBMITTERS=Genome_Clinic_of_Geneva..University_Hospital_of_Geneva;SUBMITTERS_ORDERED=Genome_Clinic_of_Geneva..University_Hospital_of_Geneva;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|25741868;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2016-03-17 -1 987142 . C T . . START=987142;STOP=987142;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128316;RCV=RCV000116278;SCV=SCV000317074|SCV000150196;ALLELE_ID=133765;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5598C>T;HGVS_P=NP_940978.2:p.Thr1866_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5598C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00 +1 987142 . C T . . START=987142;STOP=987142;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128316;RCV=RCV000116278|RCV000530029;SCV=SCV000317074|SCV000612303|SCV000150196|SCV000653973;ALLELE_ID=133765;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5598C>T;HGVS_P=NP_940978.2:p.Thr1866_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5598C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_26..2017;ALL_SUBMITTERS=PreventionGenetics|Athena_Diagnostics_Inc|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Athena_Diagnostics_Inc|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|26467025|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2016-11-07|2017-07-26 1 987155 . G A . . START=987155;STOP=987155;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=243040;RCV=RCV000235024;SCV=SCV000292412;ALLELE_ID=244114;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5611G>A;HGVS_P=NP_940978.2:p.Gly1871Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5611G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_14..2016;ALL_SUBMITTERS=GeneReviews;SUBMITTERS_ORDERED=GeneReviews;ALL_TRAITS=Congenital_myasthenic_syndrome;ALL_PMIDS=20301347;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C0751882|OMIM:PS601462;DATES_ORDERED=2016-07-14 1 987159 . G A . . START=987159;STOP=987159;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=388957;RCV=RCV000427038;SCV=SCV000531360;ALLELE_ID=364297;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5615G>A;HGVS_P=NP_940978.2:p.Arg1872Gln;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5615G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_07..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-07 1 987187 . G A . . START=987187;STOP=987187;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390523;RCV=RCV000433372;SCV=SCV000533376;ALLELE_ID=364332;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5643G>A;HGVS_P=NP_940978.2:p.Val1881_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5643G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_10..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-10 1 987191 . G A . . START=987191;STOP=987191;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263199;RCV=RCV000249073;SCV=SCV000317075;ALLELE_ID=249349;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5647G>A;HGVS_P=NP_940978.2:p.Glu1883Lys;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5647G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 1 987200 . C T . . START=987200;STOP=987200;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128317;RCV=RCV000116279;SCV=SCV000317076|SCV000519175|SCV000150197;ALLELE_ID=133766;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5651+5C>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5651+5C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-01-19 -1 989207 . G C . . START=989207;STOP=989207;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128318;RCV=RCV000116280;SCV=SCV000150198|SCV000317077;ALLELE_ID=133767;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5726G>C;HGVS_P=NP_940978.2:p.Ser1909Thr;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5726G>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|0000-00-00 +1 989148 . G A . . START=989148;STOP=989148;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474155;RCV=RCV000547044;SCV=SCV000653974;ALLELE_ID=446974;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5667G>A;HGVS_P=NP_940978.2:p.Gln1889_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5667G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_22..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-22 +1 989206 . A C . . START=989206;STOP=989206;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474156;RCV=RCV000559740;SCV=SCV000653975;ALLELE_ID=447113;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5725A>C;HGVS_P=NP_940978.2:p.Ser1909Arg;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5725A>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_01..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-05-01 +1 989207 . G C . . START=989207;STOP=989207;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128318;RCV=RCV000116280|RCV000531259;SCV=SCV000150198|SCV000317077|SCV000653976;ALLELE_ID=133767;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5726G>C;HGVS_P=NP_940978.2:p.Ser1909Thr;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5726G>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Aug_07..2017;ALL_SUBMITTERS=PreventionGenetics|Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|Myasthenic_syndrome..congenital..8;ALL_PMIDS=25741868|20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=0000-00-00|2017-08-07 +1 989216 . C T . . START=989216;STOP=989216;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474157;RCV=RCV000542856;SCV=SCV000653977;ALLELE_ID=447066;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5735C>T;HGVS_P=NP_940978.2:p.Ala1912Val;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5735C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_27..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-07-27 +1 989219 . C T . . START=989219;STOP=989219;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474158;RCV=RCV000559811;SCV=SCV000653978;ALLELE_ID=447075;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5738C>T;HGVS_P=NP_940978.2:p.Thr1913Met;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5738C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_05..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-05 1 989224 . C T . . START=989224;STOP=989224;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=422180;RCV=RCV000485272;SCV=SCV000571586;ALLELE_ID=404873;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5743C>T;HGVS_P=NP_940978.2:p.Arg1915Trp;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5743C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_21..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-21 +1 989295 . C T . . START=989295;STOP=989295;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474160;RCV=RCV000548862;SCV=SCV000653980;ALLELE_ID=447076;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5814C>T;HGVS_P=NP_940978.2:p.Pro1938_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5814C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_14..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2016-11-14 1 989313 . C T . . START=989313;STOP=989313;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=434111;RCV=RCV000499981;SCV=SCV000593074;ALLELE_ID=427609;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5832C>T;HGVS_P=NP_940978.2:p.Thr1944_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5832C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_11..2016;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-04-11 1 989811 . C A . . START=989811;STOP=989811;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263200;RCV=RCV000250424;SCV=SCV000317078;ALLELE_ID=249351;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5877-17C>A;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5877-17C>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 990213 . C T . . START=990213;STOP=990213;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=430302;RCV=RCV000492841;SCV=SCV000583076;ALLELE_ID=421152;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5990C>T;HGVS_P=NP_940978.2:p.Pro1997Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5990C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_22..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-05-22 +1 989847 . C T . . START=989847;STOP=989847;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474161;RCV=RCV000556702;SCV=SCV000653981;ALLELE_ID=447027;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5896C>T;HGVS_P=NP_940978.2:p.Leu1966_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5896C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-14 +1 989899 . C T . . START=989899;STOP=989899;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474162;RCV=RCV000537577;SCV=SCV000653982;ALLELE_ID=447080;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5948C>T;HGVS_P=NP_940978.2:p.Thr1983Met;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5948C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_01..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-07-01 +1 990213 . C T . . START=990213;STOP=990213;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=430302;RCV=RCV000492841|RCV000525192;SCV=SCV000583076|SCV000653984;ALLELE_ID=421152;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5990C>T;HGVS_P=NP_940978.2:p.Pro1997Leu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5990C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_22..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-05-22|2017-03-02 +1 990218 . C A . . START=990218;STOP=990218;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474164;RCV=RCV000542184;SCV=SCV000653985;ALLELE_ID=447030;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.5995C>A;HGVS_P=NP_940978.2:p.Leu1999Met;MOLECULAR_CONSEQUENCE=NM_198576.3:c.5995C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_24..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-03-24 +1 990224 . G A . . START=990224;STOP=990224;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474166;RCV=RCV000526397;SCV=SCV000653987;ALLELE_ID=447082;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.6001G>A;HGVS_P=NP_940978.2:p.Val2001Met;MOLECULAR_CONSEQUENCE=NM_198576.3:c.6001G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_29..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2016-11-29 1 990242 . A G . . START=990242;STOP=990242;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=385926;RCV=RCV000425631;SCV=SCV000527367;ALLELE_ID=364344;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.6019A>G;HGVS_P=NP_940978.2:p.Lys2007Glu;MOLECULAR_CONSEQUENCE=NM_198576.3:c.6019A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_02..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-05-02 1 990277 . G A . . START=990277;STOP=990277;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263201;RCV=RCV000253570;SCV=SCV000317079;ALLELE_ID=249352;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.6054G>A;HGVS_P=NP_940978.2:p.Arg2018_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.6054G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 1 990280 . C T . . START=990280;STOP=990280;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=128319;RCV=RCV000116281;SCV=SCV000150199|SCV000519176|SCV000317080;ALLELE_ID=133768;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.6057C>T;HGVS_P=NP_940978.2:p.Asp2019_eq_;MOLECULAR_CONSEQUENCE=NM_198576.3:c.6057C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago|PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|AllHighlyPenetrant|NOT_SPECIFIED|not_specified;ALL_PMIDS=18414213|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-08-15|0000-00-00|2016-01-19 +1 990291 . G T . . START=990291;STOP=990291;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474167;RCV=RCV000539106;SCV=SCV000653988;ALLELE_ID=447085;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.6068G>T;HGVS_P=NP_940978.2:p.Gly2023Val;MOLECULAR_CONSEQUENCE=NM_198576.3:c.6068G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_05..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-06-05 +1 990342 . G A . . START=990342;STOP=990342;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=474168;RCV=RCV000556109;SCV=SCV000653989;ALLELE_ID=446976;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.6119G>A;HGVS_P=NP_940978.2:p.Arg2040Gln;MOLECULAR_CONSEQUENCE=NM_198576.3:c.6119G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_24..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Myasthenic_syndrome..congenital..8;ALL_PMIDS=20301347|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1168|MedGen:C3808739|OMIM:615120|Orphanet:590;DATES_ORDERED=2017-05-24 1 990380 . C T . . START=990380;STOP=990380;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263157;RCV=RCV000252490;SCV=SCV000317004|SCV000519189;ALLELE_ID=249353;SYMBOL=AGRN;HGVS_C=NM_198576.3:c.*19C>T;MOLECULAR_CONSEQUENCE=NM_198576.3:c.*19C>T:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Feb_01..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-02-01 +1 1146965 . G A . . START=1146965;STOP=1146965;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=474798;RCV=RCV000537491;SCV=SCV000654816;ALLELE_ID=447197;SYMBOL=TNFRSF4;HGVS_C=NM_003327.3:c.804C>T;HGVS_P=NP_003318.1:p.Ala268_eq_;MOLECULAR_CONSEQUENCE=NM_003327.3:c.804C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_29..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Immunodeficiency_16;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=MedGen:C3810053|OMIM:615593|Orphanet:431149;DATES_ORDERED=2017-06-29 +1 1147337 . C T . . START=1147337;STOP=1147337;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=474797;RCV=RCV000556703;SCV=SCV000654815;ALLELE_ID=447083;SYMBOL=TNFRSF4;HGVS_C=NM_003327.3:c.619G>A;HGVS_P=NP_003318.1:p.Val207Met;MOLECULAR_CONSEQUENCE=NM_003327.3:c.619G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_25..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Immunodeficiency_16;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=MedGen:C3810053|OMIM:615593|Orphanet:431149;DATES_ORDERED=2017-07-25 1 1147422 . C T . . START=1147422;STOP=1147422;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=403556;RCV=RCV000455786;SCV=SCV000540562;ALLELE_ID=389315;SYMBOL=TNFRSF4;HGVS_C=NM_003327.3:c.534G>A;HGVS_P=NP_003318.1:p.Glu178_eq_;MOLECULAR_CONSEQUENCE=NM_003327.3:c.534G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_28..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-28 +1 1148445 . G A . . START=1148445;STOP=1148445;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=474796;RCV=RCV000544166;SCV=SCV000654814;ALLELE_ID=447259;SYMBOL=TNFRSF4;HGVS_C=NM_003327.3:c.297C>T;HGVS_P=NP_003318.1:p.Cys99_eq_;MOLECULAR_CONSEQUENCE=NM_003327.3:c.297C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_10..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Immunodeficiency_16;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=MedGen:C3810053|OMIM:615593|Orphanet:431149;DATES_ORDERED=2017-07-10 +1 1148449 . A G . . START=1148449;STOP=1148449;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=474795;RCV=RCV000531541;SCV=SCV000654813;ALLELE_ID=447260;SYMBOL=TNFRSF4;HGVS_C=NM_003327.3:c.293T>C;HGVS_P=NP_003318.1:p.Leu98Pro;MOLECULAR_CONSEQUENCE=NM_003327.3:c.293T>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_21..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Immunodeficiency_16;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=MedGen:C3810053|OMIM:615593|Orphanet:431149;DATES_ORDERED=2017-06-21 1 1149118 . G A . . START=1149118;STOP=1149118;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=96692;RCV=RCV000082860;SCV=SCV000114912;ALLELE_ID=102585;SYMBOL=TNFRSF4;HGVS_C=NM_003327.3:c.193C>T;HGVS_P=NP_003318.1:p.Arg65Cys;MOLECULAR_CONSEQUENCE=NM_003327.3:c.193C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_26..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Immunodeficiency_16|IMMUNODEFICIENCY_16_(1_patient);ALL_PMIDS=23897980;ORIGIN=germline;XREFS=MedGen:C3810053|OMIM:615593|Orphanet:431149;DATES_ORDERED=2013-08-26 +1 1149480 . G A . . START=1149480;STOP=1149480;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=474794;RCV=RCV000559880;SCV=SCV000654812;ALLELE_ID=447262;SYMBOL=TNFRSF4;HGVS_C=NM_003327.3:c.28C>T;HGVS_P=NP_003318.1:p.Arg10Cys;MOLECULAR_CONSEQUENCE=NM_003327.3:c.28C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_25..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Immunodeficiency_16;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=MedGen:C3810053|OMIM:615593|Orphanet:431149;DATES_ORDERED=2017-07-25 1 1167636 . G A . . START=1167636;STOP=1167636;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390144;RCV=RCV000433352;SCV=SCV000532898;ALLELE_ID=364446;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.-23G>A;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_20..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-20 1 1167659 . A G . . START=1167659;STOP=1167659;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60484;RCV=RCV000054390;SCV=SCV000082867;ALLELE_ID=75079;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.1A>G;HGVS_P=NP_542172.2:p.Met1Val;MOLECULAR_CONSEQUENCE=NM_080605.3:c.1A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=MedGen:C0432243|OMIM:271640|OMIM:615291.0001|OMIM:615291.0002|OMIM:615291.0003|OMIM:615291.0004|OMIM:615291.0005|OMIM:615291.0006|Office_of_Rare_Diseases:4982|Orphanet:93359|SNOMED_CT:254100000;DATES_ORDERED=2013-06-06 -1 1167674 . C T . . START=1167674;STOP=1167674;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60493;RCV=RCV000054399;SCV=SCV000082876;ALLELE_ID=75088;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.16C>T;HGVS_P=NP_542172.2:p.Arg6Trp;MOLECULAR_CONSEQUENCE=NM_080605.3:c.16C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615349|Orphanet:75496;DATES_ORDERED=2013-06-06 +1 1167674 . C T . . START=1167674;STOP=1167674;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60493;RCV=RCV000054399;SCV=SCV000082876;ALLELE_ID=75088;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.16C>T;HGVS_P=NP_542172.2:p.Arg6Trp;MOLECULAR_CONSEQUENCE=NM_080605.3:c.16C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..SPONDYLODYSPLASTIC_TYPE..2;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615291.0007|OMIM:615291.0008|OMIM:615291.0009|OMIM:615291.0010|OMIM:615291.0011|OMIM:615349|Orphanet:75496;DATES_ORDERED=2013-06-06 1 1167675 . G A . . START=1167675;STOP=1167675;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=429685;RCV=RCV000493202;SCV=SCV000582314;ALLELE_ID=421163;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.17G>A;HGVS_P=NP_542172.2:p.Arg6Gln;MOLECULAR_CONSEQUENCE=NM_080605.3:c.17G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_08..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-05-08 1 1167680 . T G . . START=1167680;STOP=1167680;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=193479;RCV=RCV000173551;SCV=SCV000224673;ALLELE_ID=190643;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.22T>G;HGVS_P=NP_542172.2:p.Trp8Gly;MOLECULAR_CONSEQUENCE=NM_080605.3:c.22T>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_05..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-02-05 1 1167689 . C T . . START=1167689;STOP=1167689;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=386485;RCV=RCV000444888;SCV=SCV000528170;ALLELE_ID=364354;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.31C>T;HGVS_P=NP_542172.2:p.Arg11Trp;MOLECULAR_CONSEQUENCE=NM_080605.3:c.31C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_17..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-05-17 +1 1167693 . C G . . START=1167693;STOP=1167693;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=450501;RCV=RCV000520086;SCV=SCV000619096;ALLELE_ID=442611;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.35C>G;HGVS_P=NP_542172.2:p.Ala12Gly;MOLECULAR_CONSEQUENCE=NM_080605.3:c.35C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_07..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-07-07 1 1167704 . C T . . START=1167704;STOP=1167704;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=391547;RCV=RCV000441345;SCV=SCV000534639;ALLELE_ID=364403;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.46C>T;HGVS_P=NP_542172.2:p.Leu16_eq_;MOLECULAR_CONSEQUENCE=NM_080605.3:c.46C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_09..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-09 -1 1167765 . C T . . START=1167765;STOP=1167765;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392324;RCV=RCV000431606;SCV=SCV000535577;ALLELE_ID=364451;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.107C>T;HGVS_P=NP_542172.2:p.Pro36Leu;MOLECULAR_CONSEQUENCE=NM_080605.3:c.107C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_04..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-04 +1 1167765 . C T . . START=1167765;STOP=1167765;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392324;RCV=RCV000431606;SCV=SCV000535577;ALLELE_ID=364451;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.107C>T;HGVS_P=NP_542172.2:p.Pro36Leu;MOLECULAR_CONSEQUENCE=NM_080605.3:c.107C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_27..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-07-27 1 1167796 . C T . . START=1167796;STOP=1167796;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=193478;RCV=RCV000173550;SCV=SCV000224672|SCV000525607;ALLELE_ID=190642;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.138C>T;HGVS_P=NP_542172.2:p.Ser46_eq_;MOLECULAR_CONSEQUENCE=NM_080605.3:c.138C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_29..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;ALL_TRAITS=not_specified|not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-02-10|2016-09-29 1 1167838 . A G . . START=1167838;STOP=1167838;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=288791;RCV=RCV000380808;SCV=SCV000343009;ALLELE_ID=273028;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.180A>G;HGVS_P=NP_542172.2:p.Ala60_eq_;MOLECULAR_CONSEQUENCE=NM_080605.3:c.180A>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_21..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-06-21 1 1167851 . A G . . START=1167851;STOP=1167851;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60488;RCV=RCV000054394;SCV=SCV000082871;ALLELE_ID=75083;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.193A>G;HGVS_P=NP_542172.2:p.Ser65Gly;MOLECULAR_CONSEQUENCE=NM_080605.3:c.193A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=MedGen:C0432243|OMIM:271640|OMIM:615291.0001|OMIM:615291.0002|OMIM:615291.0003|OMIM:615291.0004|OMIM:615291.0005|OMIM:615291.0006|Office_of_Rare_Diseases:4982|Orphanet:93359|SNOMED_CT:254100000;DATES_ORDERED=2013-06-06 1 1167858 . C T . . START=1167858;STOP=1167858;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60489;RCV=RCV000054395;SCV=SCV000082872;ALLELE_ID=75084;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.200C>T;HGVS_P=NP_542172.2:p.Pro67Leu;MOLECULAR_CONSEQUENCE=NM_080605.3:c.200C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=MedGen:C0432243|OMIM:271640|OMIM:615291.0001|OMIM:615291.0002|OMIM:615291.0003|OMIM:615291.0004|OMIM:615291.0005|OMIM:615291.0006|Office_of_Rare_Diseases:4982|Orphanet:93359|SNOMED_CT:254100000;DATES_ORDERED=2013-06-06 -1 1167996 . A G . . START=1167996;STOP=1167996;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=424885;RCV=RCV000488044;SCV=SCV000574737;ALLELE_ID=413219;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.338A>G;HGVS_P=NP_542172.2:p.Gln113Arg;MOLECULAR_CONSEQUENCE=NM_080605.3:c.338A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_31..2017;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen..;SUBMITTERS_ORDERED=Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2017-03-31 -1 1168010 . GA G . . START=1168011;STOP=1168011;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60490;RCV=RCV000054396;SCV=SCV000082873;ALLELE_ID=75085;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.353delA;HGVS_P=NP_542172.2:p.Asp118Alafs;MOLECULAR_CONSEQUENCE=NM_080605.3:c.353delA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615349|Orphanet:75496;DATES_ORDERED=2013-06-06 +1 1167897 . G A . . START=1167897;STOP=1167897;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=452846;RCV=RCV000520848;SCV=SCV000621690;ALLELE_ID=442612;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.239G>A;HGVS_P=NP_542172.2:p.Trp80Ter;MOLECULAR_CONSEQUENCE=NM_080605.3:c.239G>A:nonsense;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_16..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2017-10-16 +1 1167996 . A G . . START=1167996;STOP=1167996;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=424885;RCV=RCV000488044;SCV=SCV000574737;ALLELE_ID=413219;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.338A>G;HGVS_P=NP_542172.2:p.Gln113Arg;MOLECULAR_CONSEQUENCE=NM_080605.3:c.338A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_31..2017;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen;SUBMITTERS_ORDERED=Praxis_fuer_Humangenetik_Tuebingen;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2017-03-31 +1 1168010 . GA G . . START=1168011;STOP=1168011;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60490;RCV=RCV000054396;SCV=SCV000082873;ALLELE_ID=75085;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.353delA;HGVS_P=NP_542172.2:p.Asp118Alafs;MOLECULAR_CONSEQUENCE=NM_080605.3:c.353delA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..SPONDYLODYSPLASTIC_TYPE..2;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615291.0007|OMIM:615291.0008|OMIM:615291.0009|OMIM:615291.0010|OMIM:615291.0011|OMIM:615349|Orphanet:75496;DATES_ORDERED=2013-06-06 1 1168012 . C CCTG . . START=1168023;STOP=1168025;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=421834;RCV=RCV000485868;SCV=SCV000571148;ALLELE_ID=404899;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.365_367dupTGC;HGVS_P=NP_542172.2:p.Leu122_Pro123insLeu;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_04..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-08-04 1 1168025 . C T . . START=1168025;STOP=1168025;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387709;RCV=RCV000432423;SCV=SCV000529832;ALLELE_ID=364408;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.367C>T;HGVS_P=NP_542172.2:p.Pro123Ser;MOLECULAR_CONSEQUENCE=NM_080605.3:c.367C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_05..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-05 -1 1168064 . GTGCTGGCCA G . . START=1168073;STOP=1168081;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60494;RCV=RCV000054400;SCV=SCV000082877;ALLELE_ID=75089;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.415_423delATGCTGGCC;HGVS_P=NP_542172.2:p.Met139_Ala141del;MOLECULAR_CONSEQUENCE=NM_080605.3:c.415_423delATGCTGGCC:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615349|Orphanet:75496;DATES_ORDERED=2013-06-06 +1 1168064 . GTGCTGGCCA G . . START=1168073;STOP=1168081;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60494;RCV=RCV000054400;SCV=SCV000082877;ALLELE_ID=75089;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.415_423delATGCTGGCC;HGVS_P=NP_542172.2:p.Met139_Ala141del;MOLECULAR_CONSEQUENCE=NM_080605.3:c.415_423delATGCTGGCC:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..SPONDYLODYSPLASTIC_TYPE..2;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615291.0007|OMIM:615291.0008|OMIM:615291.0009|OMIM:615291.0010|OMIM:615291.0011|OMIM:615349|Orphanet:75496;DATES_ORDERED=2013-06-06 1 1168115 . C A . . START=1168115;STOP=1168115;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390636;RCV=RCV000431776;SCV=SCV000533522;ALLELE_ID=364355;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.457C>A;HGVS_P=NP_542172.2:p.Leu153Ile;MOLECULAR_CONSEQUENCE=NM_080605.3:c.457C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_09..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-09 1 1168124 . G A . . START=1168124;STOP=1168124;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60486;RCV=RCV000054392;SCV=SCV000082869;ALLELE_ID=75081;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.466G>A;HGVS_P=NP_542172.2:p.Asp156Asn;MOLECULAR_CONSEQUENCE=NM_080605.3:c.466G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=MedGen:C0432243|OMIM:271640|OMIM:615291.0001|OMIM:615291.0002|OMIM:615291.0003|OMIM:615291.0004|OMIM:615291.0005|OMIM:615291.0006|Office_of_Rare_Diseases:4982|Orphanet:93359|SNOMED_CT:254100000;DATES_ORDERED=2013-06-06 1 1168173 . C T . . START=1168173;STOP=1168173;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373234;RCV=RCV000413594;SCV=SCV000491813;ALLELE_ID=359211;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.515C>T;HGVS_P=NP_542172.2:p.Ala172Val;MOLECULAR_CONSEQUENCE=NM_080605.3:c.515C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_25..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-25 1 1168180 . G C . . START=1168180;STOP=1168180;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=281204;RCV=RCV000287240;SCV=SCV000524226|SCV000331726;ALLELE_ID=265441;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.522G>C;HGVS_P=NP_542172.2:p.Glu174Asp;MOLECULAR_CONSEQUENCE=NM_080605.3:c.522G>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_18..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;ALL_TRAITS=not_specified|not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-04|2016-10-18 -1 1168239 . CG C . . START=1168246;STOP=1168246;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60492;RCV=RCV000054398;SCV=SCV000082875;ALLELE_ID=75087;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.588delG;HGVS_P=NP_542172.2:p.Arg197Alafs;MOLECULAR_CONSEQUENCE=NM_080605.3:c.588delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615349|Orphanet:75496;DATES_ORDERED=2013-06-06 -1 1168241 . G C . . START=1168241;STOP=1168241;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390607;RCV=RCV000425752|RCV000513657;SCV=SCV000533484|SCV000608448;ALLELE_ID=364455;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.583G>C;HGVS_P=NP_542172.2:p.Gly195Arg;MOLECULAR_CONSEQUENCE=NM_080605.3:c.583G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_30..2017;ALL_SUBMITTERS=GeneDx|Praxis_fuer_Humangenetik_Tuebingen..;SUBMITTERS_ORDERED=GeneDx|Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_specified|not_provided;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2016-11-03|2017-04-30 +1 1168239 . CG C . . START=1168246;STOP=1168246;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60492;RCV=RCV000054398;SCV=SCV000082875;ALLELE_ID=75087;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.588delG;HGVS_P=NP_542172.2:p.Arg197Alafs;MOLECULAR_CONSEQUENCE=NM_080605.3:c.588delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..SPONDYLODYSPLASTIC_TYPE..2;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615291.0007|OMIM:615291.0008|OMIM:615291.0009|OMIM:615291.0010|OMIM:615291.0011|OMIM:615349|Orphanet:75496;DATES_ORDERED=2013-06-06 +1 1168241 . G C . . START=1168241;STOP=1168241;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390607;RCV=RCV000425752|RCV000513657;SCV=SCV000533484|SCV000608448;ALLELE_ID=364455;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.583G>C;HGVS_P=NP_542172.2:p.Gly195Arg;MOLECULAR_CONSEQUENCE=NM_080605.3:c.583G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_30..2017;ALL_SUBMITTERS=GeneDx|Praxis_fuer_Humangenetik_Tuebingen;SUBMITTERS_ORDERED=GeneDx|Praxis_fuer_Humangenetik_Tuebingen;ALL_TRAITS=not_specified|not_provided;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2016-11-03|2017-04-30 1 1168245 . G T . . START=1168245;STOP=1168245;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=281706;RCV=RCV000408441;SCV=SCV000332633|SCV000524227;ALLELE_ID=265943;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.587G>T;HGVS_P=NP_542172.2:p.Gly196Val;MOLECULAR_CONSEQUENCE=NM_080605.3:c.587G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Feb_29..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;ALL_TRAITS=not_specified|not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-06-25|2016-02-29 1 1168262 . G A . . START=1168262;STOP=1168262;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=423210;RCV=RCV000478140;SCV=SCV000572872;ALLELE_ID=404900;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.604G>A;HGVS_P=NP_542172.2:p.Ala202Thr;MOLECULAR_CONSEQUENCE=NM_080605.3:c.604G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_30..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-30 1 1168277 . G C . . START=1168277;STOP=1168277;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60495;RCV=RCV000054401;SCV=SCV000082878;ALLELE_ID=75090;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.619G>C;HGVS_P=NP_542172.2:p.Asp207His;MOLECULAR_CONSEQUENCE=NM_080605.3:c.619G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity..type_1..with_fractures|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1..WITH_FRACTURES;ALL_PMIDS=23664118;ORIGIN=germline;XREFS=MedGen:C4017378;DATES_ORDERED=2013-06-06 @@ -286,12 +375,15 @@ 1 1168352 . C T . . START=1168352;STOP=1168352;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60485;RCV=RCV000054391;SCV=SCV000082868;ALLELE_ID=75080;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.694C>T;HGVS_P=NP_542172.2:p.Arg232Cys;MOLECULAR_CONSEQUENCE=NM_080605.3:c.694C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=MedGen:C0432243|OMIM:271640|OMIM:615291.0001|OMIM:615291.0002|OMIM:615291.0003|OMIM:615291.0004|OMIM:615291.0005|OMIM:615291.0006|Office_of_Rare_Diseases:4982|Orphanet:93359|SNOMED_CT:254100000;DATES_ORDERED=2013-06-06 1 1168357 . C T . . START=1168357;STOP=1168357;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=290128;RCV=RCV000295132;SCV=SCV000344630;ALLELE_ID=274365;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.699C>T;HGVS_P=NP_542172.2:p.Asp233_eq_;MOLECULAR_CONSEQUENCE=NM_080605.3:c.699C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_05..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-05 1 1168411 . G A . . START=1168411;STOP=1168411;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=283369;RCV=RCV000266846;SCV=SCV000335404;ALLELE_ID=267606;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.753G>A;HGVS_P=NP_542172.2:p.Pro251_eq_;MOLECULAR_CONSEQUENCE=NM_080605.3:c.753G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_04..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-10-04 +1 1168476 . A G . . START=1168476;STOP=1168476;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=453100;RCV=RCV000522158;SCV=SCV000621960;ALLELE_ID=442613;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.818A>G;HGVS_P=NP_542172.2:p.Asn273Ser;MOLECULAR_CONSEQUENCE=NM_080605.3:c.818A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_31..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-10-31 1 1168492 . G A . . START=1168492;STOP=1168492;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=283589;RCV=RCV000389593;SCV=SCV000335787;ALLELE_ID=267826;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.834G>A;HGVS_P=NP_542172.2:p.Thr278_eq_;MOLECULAR_CONSEQUENCE=NM_080605.3:c.834G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_08..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-10-08 1 1168511 . G A . . START=1168511;STOP=1168511;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=283597;RCV=RCV000360273;SCV=SCV000335795;ALLELE_ID=267834;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.853G>A;HGVS_P=NP_542172.2:p.Asp285Asn;MOLECULAR_CONSEQUENCE=NM_080605.3:c.853G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_08..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-10-08 1 1168557 . G C . . START=1168557;STOP=1168557;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60487;RCV=RCV000054393;SCV=SCV000082870;ALLELE_ID=75082;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.899G>C;HGVS_P=NP_542172.2:p.Cys300Ser;MOLECULAR_CONSEQUENCE=NM_080605.3:c.899G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spondyloepimetaphyseal_dysplasia_with_joint_laxity|SPONDYLOEPIMETAPHYSEAL_DYSPLASIA_WITH_JOINT_LAXITY..TYPE_1;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=MedGen:C0432243|OMIM:271640|OMIM:615291.0001|OMIM:615291.0002|OMIM:615291.0003|OMIM:615291.0004|OMIM:615291.0005|OMIM:615291.0006|Office_of_Rare_Diseases:4982|Orphanet:93359|SNOMED_CT:254100000;DATES_ORDERED=2013-06-06 1 1168567 . G A . . START=1168567;STOP=1168567;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=193477;RCV=RCV000173549;SCV=SCV000224671;ALLELE_ID=190641;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.909G>A;HGVS_P=NP_542172.2:p.Glu303_eq_;MOLECULAR_CONSEQUENCE=NM_080605.3:c.909G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_10..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-02-10 -1 1168583 . T A . . START=1168583;STOP=1168583;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60491;RCV=RCV000054397;SCV=SCV000082874;ALLELE_ID=75086;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.925T>A;HGVS_P=NP_542172.2:p.Ser309Thr;MOLECULAR_CONSEQUENCE=NM_080605.3:c.925T>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..PROGEROID_TYPE..2;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615349|Orphanet:75496;DATES_ORDERED=2013-06-06 +1 1168583 . T A . . START=1168583;STOP=1168583;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60491;RCV=RCV000054397;SCV=SCV000082874;ALLELE_ID=75086;SYMBOL=B3GALT6;HGVS_C=NM_080605.3:c.925T>A;HGVS_P=NP_542172.2:p.Ser309Thr;MOLECULAR_CONSEQUENCE=NM_080605.3:c.925T>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_06..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Ehlers-Danlos_syndrome..progeroid_type..2|EHLERS-DANLOS_SYNDROME..SPONDYLODYSPLASTIC_TYPE..2;ALL_PMIDS=23664117;ORIGIN=germline;XREFS=Genetics_Home_Reference:ehlers-danlos-syndrome|MedGen:C3809210|OMIM:615291.0007|OMIM:615291.0008|OMIM:615291.0009|OMIM:615291.0010|OMIM:615291.0011|OMIM:615349|Orphanet:75496;DATES_ORDERED=2013-06-06 1 1271772 . C T . . START=1271772;STOP=1271772;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=391198;RCV=RCV000437568;SCV=SCV000534215;ALLELE_ID=364458;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1763G>A;HGVS_P=NP_004412.2:p.Gly588Glu;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1763G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_19..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-19 +1 1271833 . G A . . START=1271833;STOP=1271833;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=445443;RCV=RCV000514751;SCV=SCV000609816;ALLELE_ID=438715;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1702C>T;HGVS_P=NP_004412.2:p.Arg568Trp;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1702C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_28..2017;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2017-08-28 +1 1273372 . TC T . . START=1273373;STOP=1273373;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=488046;RCV=RCV000577923;SCV=SCV000583564;ALLELE_ID=481061;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1623delG;HGVS_P=NP_004412.2:p.Ser542Valfs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1623delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2;ALL_PMIDS=25577943|29276006;ORIGIN=unknown;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2017-06-01 1 1273380 . CT C . . START=1273381;STOP=1273381;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208047;RCV=RCV000193819;SCV=SCV000256690|SCV000243851;ALLELE_ID=204306;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1615delA;HGVS_P=NP_004412.2:p.Ser539Alafs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1615delA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_30..2015;ALL_SUBMITTERS=GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=23806086|24088041|25577943|25817016;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-07-30|2015-03-26 1 1273413 . TAGGCAGG C . . START=1273413;STOP=1273420;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208050;RCV=RCV000194315;SCV=SCV000243854|SCV000222664;ALLELE_ID=204307;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1576_1583delCCTGCCTAinsG;HGVS_P=NP_004412.2:p.Pro526Alafs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1576_1583delCCTGCCTAinsG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided;LAST_EVALUATED=Jul_30..2015;ALL_SUBMITTERS=GeneReviews|OMIM;SUBMITTERS_ORDERED=OMIM|GeneReviews;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=22431878|25577943|25817014;ORIGIN=germline;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-04-02|2015-07-30 1 1273425 . AA G . . START=1273425;STOP=1273426;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208043;RCV=RCV000192810;SCV=SCV000243847|SCV000256686|SCV000222660;ALLELE_ID=204308;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1570_1571delTTinsC;HGVS_P=NP_004412.2:p.Phe524Profs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1570_1571delTTinsC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic|pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_30..2015;ALL_SUBMITTERS=GeneReviews|OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=OMIM|GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=23806086|24088041|25577943|25817016;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-04-02|2015-07-30|2015-03-26 @@ -299,202 +391,258 @@ 1 1273466 . AC A . . START=1273467;STOP=1273467;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208048;RCV=RCV000195217;SCV=SCV000256691|SCV000243852;ALLELE_ID=204310;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1529delG;HGVS_P=NP_004412.2:p.Gly510Valfs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1529delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_30..2015;ALL_SUBMITTERS=GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=23806086|24088041|25577943|25817016;ORIGIN=germline;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-07-30|2015-03-26 1 1273472 . AG A . . START=1273474;STOP=1273474;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=219223;RCV=RCV000208706;SCV=SCV000257460;ALLELE_ID=217239;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1522delC;HGVS_P=NP_004412.2:p.Pro508Leufs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1522delC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_01..2015;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2;ALL_PMIDS=23806086|24088041|25577943|26924530;ORIGIN=de_novo;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-12-01 1 1273476 . CA C . . START=1273477;STOP=1273477;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208045;RCV=RCV000195250;SCV=SCV000222663|SCV000243849|SCV000256688;ALLELE_ID=204311;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1519delT;HGVS_P=NP_004412.2:p.Trp507Glyfs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1519delT:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic|pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_30..2015;ALL_SUBMITTERS=GeneReviews|OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=OMIM|GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=23806086|24088041|25045061|25577943|25817014|25817016;ORIGIN=germline;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-04-02|2015-07-30|2015-03-26 -1 1273478 . GGGGGCAGCCGGGT G . . START=1273479;STOP=1273491;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208044;RCV=RCV000193850;SCV=SCV000256687|SCV000222659|SCV000243848;ALLELE_ID=204312;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1505_1517delACCCGGCTGCCCC;HGVS_P=NP_004412.2:p.His502Profs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1505_1517delACCCGGCTGCCCC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic|pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_30..2015;ALL_SUBMITTERS=GeneReviews|OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=OMIM|GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=23806086|24088041|25577943|25817016;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-04-02|2015-07-30|2015-03-26 +1 1273478 . GGGGGCAGCCGGGT G . . START=1273479;STOP=1273491;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208044;RCV=RCV000193850;SCV=SCV000256687|SCV000222659|SCV000243848;ALLELE_ID=204312;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1505_1517delACCCGGCTGCCCC;HGVS_P=NP_004412.2:p.His502Profs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1505_1517delACCCGGCTGCCCC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic|pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=GeneReviews|OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=OMIM|GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=25577943|25817016|29276006;ORIGIN=de_novo|germline|unknown;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-04-02|2015-07-30|2017-06-01 1 1273487 . CG C . . START=1273488;STOP=1273488;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208046;RCV=RCV000192930;SCV=SCV000222661|SCV000243850|SCV000256689;ALLELE_ID=204313;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1508delC;HGVS_P=NP_004412.2:p.Pro503Argfs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1508delC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic|pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_30..2015;ALL_SUBMITTERS=GeneReviews|OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=OMIM|GeneReviews|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2|ROBINOW_SYNDROME..AUTOSOMAL_DOMINANT_2;ALL_PMIDS=10319206|23806086|24088041|25577943|25817016;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2015-04-02|2015-07-30|2015-03-26 -1 1273909 . G GGCATTGGC . . START=1273910;STOP=1273910;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=373812;RCV=RCV000413003;SCV=SCV000492436;ALLELE_ID=359205;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1249_1256dupGCCAATGC;HGVS_P=NP_004412.2:p.Val420Profs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1249_1256dupGCCAATGC:frameshift_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_08..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-12-08 +1 1273487 . CGGGTGGGGCAGCG C . . START=1273488;STOP=1273500;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=488047;RCV=RCV000577891;SCV=SCV000583565;ALLELE_ID=481063;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1496_1508delCGCTGCCCCACCC;HGVS_P=NP_004412.2:p.Pro499Argfs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1496_1508delCGCTGCCCCACCC:frameshift_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Robinow_syndrome..autosomal_dominant_2;ALL_PMIDS=25577943|29276006;ORIGIN=unknown;XREFS=GeneReviews:NBK268648|Genetics_Home_Reference:robinow-syndrome|MedGen:C4225363|OMIM:616331|Orphanet:3107|Orphanet:97360;DATES_ORDERED=2017-06-01 +1 1273790 . T C . . START=1273790;STOP=1273790;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=445553;RCV=RCV000514391;SCV=SCV000610053;ALLELE_ID=438825;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1291A>G;HGVS_P=NP_004412.2:p.Thr431Ala;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1291A>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_20..2017;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2017-03-20 +1 1273909 . G GGCATTGGC . . START=1273910;STOP=1273910;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=373812;RCV=RCV000413003;SCV=SCV000492436;ALLELE_ID=359205;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1249_1256dupGCCAATGC;HGVS_P=NP_004412.2:p.Val420Profs;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1249_1256dupGCCAATGC:frameshift_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_08..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2016-12-08 1 1274768 . G A . . START=1274768;STOP=1274768;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=391268;RCV=RCV000429612;SCV=SCV000534300;ALLELE_ID=364462;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.1106C>T;HGVS_P=NP_004412.2:p.Ala369Val;MOLECULAR_CONSEQUENCE=NM_004421.2:c.1106C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_16..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-16 -1 1277039 . CCA C . . START=1277040;STOP=1277041;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=376849;RCV=RCV000429733;SCV=SCV000510745;ALLELE_ID=363727;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.605+6_605+7delTG;MOLECULAR_CONSEQUENCE=NM_004421.2:c.605+6_605+7delTG:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2017-01-18-06:00 +1 1277039 . CCA C . . START=1277040;STOP=1277041;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=376849;RCV=RCV000429733;SCV=SCV000510745;ALLELE_ID=363727;SYMBOL=DVL1;HGVS_C=NM_004421.2:c.605+6_605+7delTG;MOLECULAR_CONSEQUENCE=NM_004421.2:c.605+6_605+7delTG:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2017-01-18 1 1289293 . A T . . START=1289293;STOP=1289293;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=402162;RCV=RCV000454237;SCV=SCV000537939;ALLELE_ID=389106;SYMBOL=MXRA8;HGVS_C=NM_032348.3:c.1238T>A;HGVS_P=NP_115724.1:p.Ile413Asn;MOLECULAR_CONSEQUENCE=NM_032348.3:c.1238T>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Abnormality_of_brain_morphology;ALL_PMIDS=26539891;ORIGIN=inherited;XREFS=HP:HP:0012443|Human_Phenotype_Ontology:HP:0012443|MedGen:C4021085;DATES_ORDERED=0000-00-00 -1 1391201 . G A . . START=1391201;STOP=1391201;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=423820;RCV=RCV000479669;SCV=SCV000573565;ALLELE_ID=404901;SYMBOL=ATAD3C;HGVS_C=NM_001039211.2:c.469G>A;HGVS_P=NP_001034300.2:p.Ala157Thr;MOLECULAR_CONSEQUENCE=NM_001039211.2:c.469G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_28..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-28 1 1447806 . C T . . START=1447806;STOP=1447806;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=225697;RCV=RCV000412620|RCV000488882;SCV=SCV000490327|SCV000267602;ALLELE_ID=227512;SYMBOL=ATAD3A;HGVS_C=NM_018188.4:c.158C>T;HGVS_P=NP_060658.3:p.Thr53Ile;MOLECULAR_CONSEQUENCE=NM_001170536.1:c.-297C>T:2KB_upstream_variant|NM_018188.4:c.158C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|uncertain_significance;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Nov_29..2016;ALL_SUBMITTERS=OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Harel-Yoon_syndrome|HAREL-YOON_SYNDROME..AUTOSOMAL_RECESSIVE|not_specified|Congenital_cataracts|Ataxia|Seizure;ALL_PMIDS=27640307;ORIGIN=germline;XREFS=MedGen:C4310677|OMIM:617183|MedGen:CN169374;DATES_ORDERED=2016-11-29|2016-04-26 1 1451415 . C G . . START=1451415;STOP=1451415;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432628;RCV=RCV000498349;SCV=SCV000590377;ALLELE_ID=425308;SYMBOL=ATAD3A;HGVS_C=NM_018188.4:c.229C>G;HGVS_P=NP_060658.3:p.Leu77Val;MOLECULAR_CONSEQUENCE=NM_018188.4:c.229C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_06..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-06 -1 1464679 . C T . . START=1464679;STOP=1464679;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=225696;RCV=RCV000412539|RCV000488909;SCV=SCV000490326|SCV000494159|SCV000267601;ALLELE_ID=227511;SYMBOL=ATAD3A;HGVS_C=NM_018188.4:c.1726C>T;HGVS_P=NP_060658.3:p.Arg576Trp;MOLECULAR_CONSEQUENCE=NM_018188.4:c.1726C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Nov_29..2016;ALL_SUBMITTERS=OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Harel-Yoon_syndrome|HAREL-YOON_SYNDROME|not_provided|Developmental_delay|Peripheral_neuropathy|Optic_atrophy|Cardiomyopathy;ALL_PMIDS=27640307;ORIGIN=de_novo|unknown|germline;XREFS=MedGen:C4310677|OMIM:617183|MedGen:CN221809;DATES_ORDERED=2016-11-29|0000-00-00|2016-04-26 +1 1451437 . C T . . START=1451437;STOP=1451437;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=452865;RCV=RCV000519405;SCV=SCV000621709;ALLELE_ID=442620;SYMBOL=ATAD3A;HGVS_C=NM_018188.4:c.251C>T;HGVS_P=NP_060658.3:p.Thr84Met;MOLECULAR_CONSEQUENCE=NM_018188.4:c.251C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_17..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-10-17 +1 1455640 . C T . . START=1455640;STOP=1455640;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=452740;RCV=RCV000523197;SCV=SCV000621571;ALLELE_ID=442621;SYMBOL=ATAD3A;HGVS_C=NM_018188.4:c.778C>T;HGVS_P=NP_060658.3:p.Arg260Cys;MOLECULAR_CONSEQUENCE=NM_018188.4:c.778C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_23..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-10-23 +1 1455664 . C T . . START=1455664;STOP=1455664;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=452211;RCV=RCV000518892;SCV=SCV000620999;ALLELE_ID=442622;SYMBOL=ATAD3A;HGVS_C=NM_018188.4:c.802C>T;HGVS_P=NP_060658.3:p.Gln268Ter;MOLECULAR_CONSEQUENCE=NM_018188.4:c.802C>T:nonsense;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_18..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-09-18 +1 1455968 . G C . . START=1455968;STOP=1455968;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=453143;RCV=RCV000522935;SCV=SCV000622009;ALLELE_ID=442623;SYMBOL=ATAD3A;HGVS_C=NM_018188.4:c.865G>C;HGVS_P=NP_060658.3:p.Val289Leu;MOLECULAR_CONSEQUENCE=NM_018188.4:c.865G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_31..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-10-31 +1 1455997 . G A . . START=1455997;STOP=1455997;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=452866;RCV=RCV000521220;SCV=SCV000621710;ALLELE_ID=442624;SYMBOL=ATAD3A;HGVS_C=NM_018188.4:c.894G>A;HGVS_P=NP_060658.3:p.Thr298_eq_;MOLECULAR_CONSEQUENCE=NM_018188.4:c.894G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_17..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-10-17 +1 1464679 . C T . . START=1464679;STOP=1464679;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=225696;RCV=RCV000412539|RCV000488909;SCV=SCV000490326|SCV000494159|SCV000267601;ALLELE_ID=227511;SYMBOL=ATAD3A;HGVS_C=NM_018188.4:c.1726C>T;HGVS_P=NP_060658.3:p.Arg576Trp;MOLECULAR_CONSEQUENCE=NM_018188.4:c.1726C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Nov_29..2016;ALL_SUBMITTERS=OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;SUBMITTERS_ORDERED=OMIM|Lupski_Lab..Baylor-Hopkins_CMG..Baylor_College_of_Medicine;ALL_TRAITS=Harel-Yoon_syndrome|HAREL-YOON_SYNDROME|not_provided|Developmental_delay|Peripheral_neuropathy|Optic_atrophy|Cardiomyopathy;ALL_PMIDS=27640307;ORIGIN=de_novo|unknown|germline;XREFS=MedGen:C4310677|OMIM:617183|MedGen:CN517202;DATES_ORDERED=2016-11-29|0000-00-00|2016-04-26 1 1470750 . G A . . START=1470750;STOP=1470750;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=161196;RCV=RCV000148348;SCV=SCV000195812;ALLELE_ID=171043;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.511C>T;HGVS_P=NP_001108220.1:p.Arg171Trp;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.511C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=20050888|20301317|25070513;ORIGIN=germline;XREFS=GeneReviews:NBK1138|Genetic_Alliance:Spinocerebellar+ataxia+21/6755|MedGen:C1843891|OMIM:607454|Office_of_Rare_Diseases:9999|Orphanet:98773;DATES_ORDERED=2014-10-01 -1 1470752 . G A . . START=1470752;STOP=1470752;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=161192;RCV=RCV000148344|RCV000322616;SCV=SCV000597502|SCV000195808|SCV000330042;ALLELE_ID=171039;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.509C>T;HGVS_P=NP_001108220.1:p.Pro170Leu;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.509C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jun_08..2017;ALL_SUBMITTERS=OMIM|Genetic_Services_Laboratory..University_of_Chicago|GeneDx;SUBMITTERS_ORDERED=OMIM|Genetic_Services_Laboratory..University_of_Chicago|GeneDx;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21|not_provided|Not_Provided;ALL_PMIDS=11160961|20050888|20301317|25070513|25741868;ORIGIN=germline;XREFS=GeneReviews:NBK1138|Genetic_Alliance:Spinocerebellar+ataxia+21/6755|MedGen:C1843891|OMIM:607454|Office_of_Rare_Diseases:9999|Orphanet:98773|MedGen:CN221809;DATES_ORDERED=2014-10-01|2017-06-08|2015-11-26 +1 1470752 . G A . . START=1470752;STOP=1470752;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=161192;RCV=RCV000148344|RCV000322616;SCV=SCV000597502|SCV000195808|SCV000330042;ALLELE_ID=171039;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.509C>T;HGVS_P=NP_001108220.1:p.Pro170Leu;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.509C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jun_08..2017;ALL_SUBMITTERS=OMIM|Genetic_Services_Laboratory..University_of_Chicago|GeneDx;SUBMITTERS_ORDERED=OMIM|Genetic_Services_Laboratory..University_of_Chicago|GeneDx;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21|not_provided|Not_Provided;ALL_PMIDS=11160961|20050888|20301317|25070513|25741868;ORIGIN=germline;XREFS=GeneReviews:NBK1138|Genetic_Alliance:Spinocerebellar+ataxia+21/6755|MedGen:C1843891|OMIM:607454|Office_of_Rare_Diseases:9999|Orphanet:98773|MedGen:CN517202;DATES_ORDERED=2014-10-01|2017-06-08|2015-11-26 1 1470772 . G C . . START=1470772;STOP=1470772;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=161193;RCV=RCV000148345;SCV=SCV000195809;ALLELE_ID=171040;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.489C>G;HGVS_P=NP_001108220.1:p.Tyr163Ter;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.489C>G:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=20050888|20301317|25070513;ORIGIN=germline;XREFS=GeneReviews:NBK1138|Genetic_Alliance:Spinocerebellar+ataxia+21/6755|MedGen:C1843891|OMIM:607454|Office_of_Rare_Diseases:9999|Orphanet:98773;DATES_ORDERED=2014-10-01 1 1470837 . G A . . START=1470837;STOP=1470837;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=393221;RCV=RCV000424137;SCV=SCV000536598;ALLELE_ID=364388;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.424C>T;HGVS_P=NP_001108220.1:p.Arg142Trp;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.424C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_25..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-25 1 1470969 . C T . . START=1470969;STOP=1470969;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=373233;RCV=RCV000413204;SCV=SCV000491812;ALLELE_ID=359223;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.373G>A;HGVS_P=NP_001108220.1:p.Asp125Asn;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.373G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_22..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-22 1 1470996 . G A . . START=1470996;STOP=1470996;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=161194;RCV=RCV000148346;SCV=SCV000195810;ALLELE_ID=171041;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.346C>T;HGVS_P=NP_001108220.1:p.Arg116Cys;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.346C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=20050888|20301317|25070513;ORIGIN=germline;XREFS=GeneReviews:NBK1138|Genetic_Alliance:Spinocerebellar+ataxia+21/6755|MedGen:C1843891|OMIM:607454|Office_of_Rare_Diseases:9999|Orphanet:98773;DATES_ORDERED=2014-10-01 1 1470998 . A G . . START=1470998;STOP=1470998;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=437011;RCV=RCV000503526;SCV=SCV000597503;ALLELE_ID=427636;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.344T>C;HGVS_P=NP_001108220.1:p.Val115Ala;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.344T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_17..2015;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-12-17 1 1471103 . G A . . START=1471103;STOP=1471103;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=161195;RCV=RCV000148347;SCV=SCV000195811;ALLELE_ID=171042;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.239C>T;HGVS_P=NP_001108220.1:p.Thr80Met;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.239C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_01..2014;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Spinocerebellar_ataxia_21|SPINOCEREBELLAR_ATAXIA_21;ALL_PMIDS=20050888|20301317|25070513;ORIGIN=germline;XREFS=GeneReviews:NBK1138|Genetic_Alliance:Spinocerebellar+ataxia+21/6755|MedGen:C1843891|OMIM:607454|Office_of_Rare_Diseases:9999|Orphanet:98773;DATES_ORDERED=2014-10-01 -1 1471146 . C T . . START=1471146;STOP=1471146;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=372833;RCV=RCV000413958;SCV=SCV000491361;ALLELE_ID=359235;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.196G>A;HGVS_P=NP_001108220.1:p.Gly66Arg;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.196G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_27..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-01-27 +1 1471146 . C T . . START=1471146;STOP=1471146;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=372833;RCV=RCV000413958;SCV=SCV000491361;ALLELE_ID=359235;SYMBOL=TMEM240;HGVS_C=NM_001114748.1:c.196G>A;HGVS_P=NP_001108220.1:p.Gly66Arg;MOLECULAR_CONSEQUENCE=NM_001114748.1:c.196G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_27..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2016-01-27 1 1550992 . C A . . START=1550992;STOP=1550992;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=218832;RCV=RCV000202894;SCV=SCV000258233;ALLELE_ID=215186;SYMBOL=MIB2;HGVS_C=NM_080875.2:c.153C>A;HGVS_P=NP_543151.2:p.Cys51Ter;MOLECULAR_CONSEQUENCE=NM_001170689.1:c.-618C>A:2KB_upstream_variant|NM_080875.2:c.153C>A:nonsense|NR_033183.1:n.198C>A:non-coding_transcript_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_11..2015;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;SUBMITTERS_ORDERED=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;XREFS=MedGen:CN169374;DATES_ORDERED=2015-06-11 1 1637084 . TTTTC T . . START=1637085;STOP=1637088;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=421783;RCV=RCV000480151;SCV=SCV000571086;ALLELE_ID=404982;SYMBOL=CDK11A;HGVS_C=NM_024011.3:c.1329_1332delGAAA;HGVS_P=NP_076916.2:p.Lys444Glnfs;MOLECULAR_CONSEQUENCE=NM_024011.3:c.1329_1332delGAAA:frameshift_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_25..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-25 1 1718817 . C T . . START=1718817;STOP=1718817;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224718;RCV=RCV000210260;SCV=SCV000266340;ALLELE_ID=226495;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.976G>A;HGVS_P=NP_002065.1:p.Ala326Thr;MOLECULAR_CONSEQUENCE=NM_002074.4:c.976G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2016;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Seizures|Intellectual_disability|Global_developmental_delay|Generalized_tonic-clonic_seizures|Muscular_hypotonia;ALL_PMIDS=21956720|27108799;ORIGIN=de_novo;XREFS=Genetic_Alliance:Seizures/6489|HP:HP:0001249|HP:HP:0001250|HP:HP:0001252|HP:HP:0001263|HP:HP:0002069|Human_Phenotype_Ontology:HP:0000730|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001249|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001267|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001286|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001306|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0002069|Human_Phenotype_Ontology:HP:0002122|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002192|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002316|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002382|Human_Phenotype_Ontology:HP:0002386|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002402|Human_Phenotype_Ontology:HP:0002407|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002458|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002482|Human_Phenotype_Ontology:HP:0002499|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002543|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0003767|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006833|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007154|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007176|Human_Phenotype_Ontology:HP:0007180|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007252|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0010520|MedGen:C0036572|MedGen:C0494475|MedGen:C1843367|MedGen:C4020875|MedGen:CN001147;DATES_ORDERED=2016-02-10 -1 1720541 . G A . . START=1720541;STOP=1720541;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=444148;RCV=RCV000512793;SCV=SCV000608449;ALLELE_ID=437788;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.867C>T;HGVS_P=NP_002065.1:p.Tyr289_eq_;MOLECULAR_CONSEQUENCE=NM_002074.4:c.867C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_31..2017;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen..;SUBMITTERS_ORDERED=Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2017-05-31 -1 1735942 . C T . . START=1735942;STOP=1735942;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=444149;RCV=RCV000513217;SCV=SCV000608450;ALLELE_ID=437789;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.346G>A;HGVS_P=NP_002065.1:p.Gly116Ser;MOLECULAR_CONSEQUENCE=NM_002074.4:c.346G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_31..2017;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen..;SUBMITTERS_ORDERED=Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2017-05-31 -1 1735987 . T C . . START=1735987;STOP=1735987;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224717;RCV=RCV000210283|RCV000225171|RCV000480671;SCV=SCV000266339|SCV000282065|SCV000571181;ALLELE_ID=226496;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.301A>G;HGVS_P=NP_002065.1:p.Met101Val;MOLECULAR_CONSEQUENCE=NM_002074.4:c.301A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Mar_17..2017;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM|GeneDx;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM|GeneDx;ALL_TRAITS=Expressive_language_delay|Seizures|Focal_seizures_with_impairment_of_consciousness_or_awareness|Intellectual_disability|Global_developmental_delay|Generalized_tonic-clonic_seizures|Developmental_regression|Multifocal_epileptiform_discharges|EEG_with_generalized_epileptiform_discharges|Muscular_hypotonia|Mental_retardation..autosomal_dominant_42|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|not_provided|Not_Provided;ALL_PMIDS=21956720|27108799;ORIGIN=de_novo|germline;XREFS=Genetic_Alliance:Seizures/6489|HP:HP:0001249|HP:HP:0001250|HP:HP:0001252|HP:HP:0001263|HP:HP:0002069|HP:HP:0002376|HP:HP:0002384|HP:HP:0002474|HP:HP:0010841|HP:HP:0011198|Human_Phenotype_Ontology:HP:0000730|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001249|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001267|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001286|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001306|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0002069|Human_Phenotype_Ontology:HP:0002122|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002192|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002316|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002376|Human_Phenotype_Ontology:HP:0002382|Human_Phenotype_Ontology:HP:0002384|Human_Phenotype_Ontology:HP:0002386|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002402|Human_Phenotype_Ontology:HP:0002407|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002458|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002471|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002474|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002482|Human_Phenotype_Ontology:HP:0002489|Human_Phenotype_Ontology:HP:0002499|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002543|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0003767|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006797|Human_Phenotype_Ontology:HP:0006828|Human_Phenotype_Ontology:HP:0006833|Human_Phenotype_Ontology:HP:0006854|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007037|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007154|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007176|Human_Phenotype_Ontology:HP:0007180|Human_Phenotype_Ontology:HP:0007192|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007242|Human_Phenotype_Ontology:HP:0007247|Human_Phenotype_Ontology:HP:0007252|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0010520|Human_Phenotype_Ontology:HP:0010841|Human_Phenotype_Ontology:HP:0010842|Human_Phenotype_Ontology:HP:0011198|MedGen:C0036572|MedGen:C0149958|MedGen:C0494475|MedGen:C1843367|MedGen:C1847610|MedGen:C1855009|MedGen:C4020875|MedGen:C4021219|MedGen:C4023476|MedGen:CN001147|MedGen:C4310774|OMIM:616973|MedGen:CN221809;DATES_ORDERED=2016-02-10|2016-08-08|2017-03-17 +1 1720541 . G A . . START=1720541;STOP=1720541;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=444148;RCV=RCV000512793;SCV=SCV000608449;ALLELE_ID=437788;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.867C>T;HGVS_P=NP_002065.1:p.Tyr289_eq_;MOLECULAR_CONSEQUENCE=NM_002074.4:c.867C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_31..2017;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen;SUBMITTERS_ORDERED=Praxis_fuer_Humangenetik_Tuebingen;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2017-05-31 +1 1720578 . G C . . START=1720578;STOP=1720578;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=452928;RCV=RCV000523284;SCV=SCV000621777;ALLELE_ID=442673;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.830C>G;HGVS_P=NP_002065.1:p.Ser277Cys;MOLECULAR_CONSEQUENCE=NM_002074.4:c.830C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_17..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-10-17 +1 1735900 . C T . . START=1735900;STOP=1735900;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=452797;RCV=RCV000523422;SCV=SCV000621634;ALLELE_ID=442675;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.388G>A;HGVS_P=NP_002065.1:p.Glu130Lys;MOLECULAR_CONSEQUENCE=NM_002074.4:c.388G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_16..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2017-10-16 +1 1735942 . C T . . START=1735942;STOP=1735942;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=444149;RCV=RCV000513217;SCV=SCV000608450;ALLELE_ID=437789;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.346G>A;HGVS_P=NP_002065.1:p.Gly116Ser;MOLECULAR_CONSEQUENCE=NM_002074.4:c.346G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_31..2017;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen;SUBMITTERS_ORDERED=Praxis_fuer_Humangenetik_Tuebingen;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2017-05-31 +1 1735987 . T C . . START=1735987;STOP=1735987;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224717;RCV=RCV000210283|RCV000225171|RCV000480671;SCV=SCV000266339|SCV000282065|SCV000571181;ALLELE_ID=226496;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.301A>G;HGVS_P=NP_002065.1:p.Met101Val;MOLECULAR_CONSEQUENCE=NM_002074.4:c.301A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Mar_17..2017;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM|GeneDx;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM|GeneDx;ALL_TRAITS=Expressive_language_delay|Seizures|Focal_seizures_with_impairment_of_consciousness_or_awareness|Intellectual_disability|Global_developmental_delay|Generalized_tonic-clonic_seizures|Developmental_regression|Multifocal_epileptiform_discharges|EEG_with_generalized_epileptiform_discharges|Muscular_hypotonia|Mental_retardation..autosomal_dominant_42|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|not_provided|Not_Provided;ALL_PMIDS=21956720|27108799;ORIGIN=de_novo|germline;XREFS=Genetic_Alliance:Seizures/6489|HP:HP:0001249|HP:HP:0001250|HP:HP:0001252|HP:HP:0001263|HP:HP:0002069|HP:HP:0002376|HP:HP:0002384|HP:HP:0002474|HP:HP:0010841|HP:HP:0011198|Human_Phenotype_Ontology:HP:0000730|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001249|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001267|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001286|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001306|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0002069|Human_Phenotype_Ontology:HP:0002122|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002192|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002316|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002376|Human_Phenotype_Ontology:HP:0002382|Human_Phenotype_Ontology:HP:0002384|Human_Phenotype_Ontology:HP:0002386|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002402|Human_Phenotype_Ontology:HP:0002407|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002458|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002471|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002474|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002482|Human_Phenotype_Ontology:HP:0002489|Human_Phenotype_Ontology:HP:0002499|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002543|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0003767|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006797|Human_Phenotype_Ontology:HP:0006828|Human_Phenotype_Ontology:HP:0006833|Human_Phenotype_Ontology:HP:0006854|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007037|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007154|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007176|Human_Phenotype_Ontology:HP:0007180|Human_Phenotype_Ontology:HP:0007192|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007242|Human_Phenotype_Ontology:HP:0007247|Human_Phenotype_Ontology:HP:0007252|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0010520|Human_Phenotype_Ontology:HP:0010841|Human_Phenotype_Ontology:HP:0010842|Human_Phenotype_Ontology:HP:0011198|MedGen:C0036572|MedGen:C0149958|MedGen:C0494475|MedGen:C1843367|MedGen:C1847610|MedGen:C1855009|MedGen:C4020875|MedGen:C4021219|MedGen:C4023476|MedGen:CN001147|MedGen:C4310774|OMIM:616973|MedGen:CN517202;DATES_ORDERED=2016-02-10|2016-08-08|2017-03-17 1 1736004 . A G . . START=1736004;STOP=1736004;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224716;RCV=RCV000210270;SCV=SCV000266338;ALLELE_ID=226497;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.284T>C;HGVS_P=NP_002065.1:p.Leu95Pro;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-17T>C:5_prime_UTR_variant|NM_002074.4:c.284T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2016;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Expressive_language_delay|Seizures|Failure_to_thrive|Feeding_difficulties|Nystagmus|Cortical_visual_impairment|Strabismus|Intellectual_disability|Global_developmental_delay|Growth_delay|Limb_hypertonia|Inability_to_walk|Multifocal_epileptiform_discharges|Muscular_hypotonia;ALL_PMIDS=21956720|27108799;ORIGIN=de_novo;XREFS=Genetic_Alliance:Seizures/6489|HP:HP:0000486|HP:HP:0000639|HP:HP:0001249|HP:HP:0001250|HP:HP:0001252|HP:HP:0001263|HP:HP:0001508|HP:HP:0001510|HP:HP:0002474|HP:HP:0002509|HP:HP:0002540|HP:HP:0010841|HP:HP:0011968|HP:HP:0100704|Human_Phenotype_Ontology:HP:0000486|Human_Phenotype_Ontology:HP:0000595|Human_Phenotype_Ontology:HP:0000639|Human_Phenotype_Ontology:HP:0000730|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001249|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001267|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001286|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0001434|Human_Phenotype_Ontology:HP:0001508|Human_Phenotype_Ontology:HP:0001510|Human_Phenotype_Ontology:HP:0001512|Human_Phenotype_Ontology:HP:0001514|Human_Phenotype_Ontology:HP:0001517|Human_Phenotype_Ontology:HP:0001532|Human_Phenotype_Ontology:HP:0001535|Human_Phenotype_Ontology:HP:0002122|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002192|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002316|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002382|Human_Phenotype_Ontology:HP:0002386|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002402|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002458|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002474|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002482|Human_Phenotype_Ontology:HP:0002499|Human_Phenotype_Ontology:HP:0002509|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002540|Human_Phenotype_Ontology:HP:0002543|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0003767|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006833|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007154|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007176|Human_Phenotype_Ontology:HP:0007180|Human_Phenotype_Ontology:HP:0007192|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0008847|Human_Phenotype_Ontology:HP:0008853|Human_Phenotype_Ontology:HP:0008870|Human_Phenotype_Ontology:HP:0008878|Human_Phenotype_Ontology:HP:0008886|Human_Phenotype_Ontology:HP:0008893|Human_Phenotype_Ontology:HP:0008916|Human_Phenotype_Ontology:HP:0008926|Human_Phenotype_Ontology:HP:0010520|Human_Phenotype_Ontology:HP:0010841|Human_Phenotype_Ontology:HP:0011968|Human_Phenotype_Ontology:HP:0100704|MedGen:C0028738|MedGen:C0036572|MedGen:C0038379|MedGen:C0155320|MedGen:C0231246|MedGen:C0232466|MedGen:C0560046|MedGen:C1838391|MedGen:C1843367|MedGen:C1847610|MedGen:C3552463|MedGen:C4020875|MedGen:C4021219|MedGen:CN001147;DATES_ORDERED=2016-02-10 -1 1737915 . T C . . START=1737915;STOP=1737915;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=422536;RCV=RCV000486531;SCV=SCV000572033;ALLELE_ID=404989;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.266A>G;HGVS_P=NP_002065.1:p.Lys89Arg;MOLECULAR_CONSEQUENCE=NM_002074.4:c.266A>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_24..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-10-24 -1 1737942 . A C . . START=1737942;STOP=1737942;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=391609;RCV=RCV000439050;SCV=SCV000534719;ALLELE_ID=364646;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.239T>G;HGVS_P=NP_002065.1:p.Ile80Ser;MOLECULAR_CONSEQUENCE=NM_002074.4:c.239T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_16..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-12-16 -1 1737942 . A G . . START=1737942;STOP=1737942;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208722;RCV=RCV000190738|RCV000208571|RCV000210259|RCV000225179|RCV000225295|RCV000418135;SCV=SCV000244179|SCV000263295|SCV000266337|SCV000282059|SCV000282060|SCV000529467;ALLELE_ID=205216;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.239T>C;HGVS_P=NP_002065.1:p.Ile80Thr;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-62T>C:5_prime_UTR_variant|NM_002074.4:c.239T>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|pathogenic;PATHOGENIC=5;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=Ambry_Genetics|Laboratory_of_Molecular_Genetics_(Pr._Bezieau's_lab)..CHU_de_Nantes|Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM|GeneDx;SUBMITTERS_ORDERED=Ambry_Genetics|Laboratory_of_Molecular_Genetics_(Pr._Bezieau's_lab)..CHU_de_Nantes|Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM|GeneDx;ALL_TRAITS=Inborn_genetic_diseases|MR/ID/DD|Dermatologic_(child_onset)|Neurologic_(child_onset)|Ophthalmologic_(child_onset)|Dystonia|Hypothyroidism|Intellectual_disability|Growth_delay|Infantile_axial_hypotonia|Upper_limb_hypertonia|Cleft_palate|Expressive_language_delay|Seizures|Failure_to_thrive|Nystagmus|Strabismus|Global_developmental_delay|Developmental_regression|Limb_hypertonia|Inability_to_walk|Multifocal_epileptiform_discharges|EEG_with_generalized_epileptiform_discharges|Muscular_hypotonia|Mental_retardation..autosomal_dominant_42|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|Myelodysplastic_syndrome|not_provided|Not_Provided;ALL_PMIDS=22947299|23037933|23169492|23619275|23652378|23881473|24022298|24121147|24394680|25356970|25560141|25626707|25730230|27108799|20301334|21956720|25485910;ORIGIN=germline|de_novo|unknown|somatic;XREFS=MeSH:D030342|MedGen:C0950123|GeneTests:25706|Genetic_Alliance:Dystonia/2405|Human_Phenotype_Ontology:HP:0000175|Human_Phenotype_Ontology:HP:0000730|Human_Phenotype_Ontology:HP:0000750|Human_Phenotype_Ontology:HP:0000821|Human_Phenotype_Ontology:HP:0000851|Human_Phenotype_Ontology:HP:0001249|Human_Phenotype_Ontology:HP:0001267|Human_Phenotype_Ontology:HP:0001286|Human_Phenotype_Ontology:HP:0001332|Human_Phenotype_Ontology:HP:0001434|Human_Phenotype_Ontology:HP:0001508|Human_Phenotype_Ontology:HP:0001510|Human_Phenotype_Ontology:HP:0001512|Human_Phenotype_Ontology:HP:0001514|Human_Phenotype_Ontology:HP:0001517|Human_Phenotype_Ontology:HP:0001532|Human_Phenotype_Ontology:HP:0002122|Human_Phenotype_Ontology:HP:0002192|Human_Phenotype_Ontology:HP:0002316|Human_Phenotype_Ontology:HP:0002382|Human_Phenotype_Ontology:HP:0002386|Human_Phenotype_Ontology:HP:0002402|Human_Phenotype_Ontology:HP:0002451|Human_Phenotype_Ontology:HP:0002458|Human_Phenotype_Ontology:HP:0002482|Human_Phenotype_Ontology:HP:0002499|Human_Phenotype_Ontology:HP:0002543|Human_Phenotype_Ontology:HP:0003222|Human_Phenotype_Ontology:HP:0003767|Human_Phenotype_Ontology:HP:0006833|Human_Phenotype_Ontology:HP:0007154|Human_Phenotype_Ontology:HP:0007176|Human_Phenotype_Ontology:HP:0007180|Human_Phenotype_Ontology:HP:0008203|Human_Phenotype_Ontology:HP:0008847|Human_Phenotype_Ontology:HP:0008870|Human_Phenotype_Ontology:HP:0008886|Human_Phenotype_Ontology:HP:0008893|Human_Phenotype_Ontology:HP:0008926|Human_Phenotype_Ontology:HP:0009062|Human_Phenotype_Ontology:HP:0012758|Human_Phenotype_Ontology:HP:0012759|Human_Phenotype_Ontology:HP:0200049|MedGen:C0008925|MedGen:C0013421|MedGen:C0020676|MedGen:C0393593|MedGen:C1843367|MedGen:C1970931|MedGen:C2750951|MedGen:C3552463|MedGen:C3806604|MedGen:C4021898|MedGen:CN001379|MedGen:CN117790|MedGen:CN200780|OMIM:PS128100|Genetic_Alliance:Seizures/6489|HP:HP:0000486|HP:HP:0000639|HP:HP:0001250|HP:HP:0001252|HP:HP:0001263|HP:HP:0001508|HP:HP:0001510|HP:HP:0002376|HP:HP:0002474|HP:HP:0002509|HP:HP:0002540|HP:HP:0010841|HP:HP:0011198|Human_Phenotype_Ontology:HP:0000486|Human_Phenotype_Ontology:HP:0000639|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0001535|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002376|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002471|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002474|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002489|Human_Phenotype_Ontology:HP:0002509|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002540|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006797|Human_Phenotype_Ontology:HP:0006828|Human_Phenotype_Ontology:HP:0006854|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007037|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007192|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007242|Human_Phenotype_Ontology:HP:0007247|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0008853|Human_Phenotype_Ontology:HP:0008878|Human_Phenotype_Ontology:HP:0008916|Human_Phenotype_Ontology:HP:0010520|Human_Phenotype_Ontology:HP:0010841|Human_Phenotype_Ontology:HP:0010842|Human_Phenotype_Ontology:HP:0011198|MedGen:C0028738|MedGen:C0036572|MedGen:C0038379|MedGen:C0231246|MedGen:C0560046|MedGen:C1838391|MedGen:C1847610|MedGen:C1855009|MedGen:C4020875|MedGen:C4021219|MedGen:C4023476|MedGen:CN001147|MedGen:C4310774|OMIM:616973|Genetic_Alliance:Myelodysplastic+syndromes/5021|MeSH:D009190|MedGen:C0026986|OMIM:137295.0002|OMIM:137295.0014|OMIM:614286|Orphanet:52688|MedGen:CN221809;DATES_ORDERED=0000-00-00|2015-12-04|2016-02-10|2016-08-08|2016-06-28 +1 1737915 . T C . . START=1737915;STOP=1737915;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=422536;RCV=RCV000486531;SCV=SCV000572033;ALLELE_ID=404989;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.266A>G;HGVS_P=NP_002065.1:p.Lys89Arg;MOLECULAR_CONSEQUENCE=NM_002074.4:c.266A>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_24..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2016-10-24 +1 1737942 . A C . . START=1737942;STOP=1737942;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=391609;RCV=RCV000439050;SCV=SCV000534719;ALLELE_ID=364646;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.239T>G;HGVS_P=NP_002065.1:p.Ile80Ser;MOLECULAR_CONSEQUENCE=NM_002074.4:c.239T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_16..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2016-12-16 +1 1737942 . A G . . START=1737942;STOP=1737942;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=208722;RCV=RCV000190738|RCV000208571|RCV000210259|RCV000225179|RCV000225295|RCV000418135;SCV=SCV000244179|SCV000263295|SCV000266337|SCV000282059|SCV000282060|SCV000529467;ALLELE_ID=205216;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.239T>C;HGVS_P=NP_002065.1:p.Ile80Thr;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-62T>C:5_prime_UTR_variant|NM_002074.4:c.239T>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|pathogenic;PATHOGENIC=5;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=Ambry_Genetics|Laboratory_of_Molecular_Genetics_(Pr._Bezieau's_lab)..CHU_de_Nantes|Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM|GeneDx;SUBMITTERS_ORDERED=Ambry_Genetics|Laboratory_of_Molecular_Genetics_(Pr._Bezieau's_lab)..CHU_de_Nantes|Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM|GeneDx;ALL_TRAITS=Inborn_genetic_diseases|MR/ID/DD|Dermatologic_(child_onset)|Neurologic_(child_onset)|Ophthalmologic_(child_onset)|Dystonia|Hypothyroidism|Intellectual_disability|Growth_delay|Infantile_axial_hypotonia|Upper_limb_hypertonia|Cleft_palate|Expressive_language_delay|Seizures|Failure_to_thrive|Nystagmus|Strabismus|Global_developmental_delay|Developmental_regression|Limb_hypertonia|Inability_to_walk|Multifocal_epileptiform_discharges|EEG_with_generalized_epileptiform_discharges|Muscular_hypotonia|Mental_retardation..autosomal_dominant_42|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|Myelodysplastic_syndrome|not_provided|Not_Provided;ALL_PMIDS=22947299|23037933|23169492|23619275|23652378|23881473|24022298|24121147|24394680|25356970|25560141|25626707|25730230|27108799|20301334|21956720|25485910;ORIGIN=germline|de_novo|unknown|somatic;XREFS=MeSH:D030342|MedGen:C0950123|GeneTests:25706|Genetic_Alliance:Dystonia/2405|Human_Phenotype_Ontology:HP:0000175|Human_Phenotype_Ontology:HP:0000730|Human_Phenotype_Ontology:HP:0000750|Human_Phenotype_Ontology:HP:0000821|Human_Phenotype_Ontology:HP:0000851|Human_Phenotype_Ontology:HP:0001249|Human_Phenotype_Ontology:HP:0001267|Human_Phenotype_Ontology:HP:0001286|Human_Phenotype_Ontology:HP:0001332|Human_Phenotype_Ontology:HP:0001434|Human_Phenotype_Ontology:HP:0001508|Human_Phenotype_Ontology:HP:0001510|Human_Phenotype_Ontology:HP:0001512|Human_Phenotype_Ontology:HP:0001514|Human_Phenotype_Ontology:HP:0001517|Human_Phenotype_Ontology:HP:0001532|Human_Phenotype_Ontology:HP:0002122|Human_Phenotype_Ontology:HP:0002192|Human_Phenotype_Ontology:HP:0002316|Human_Phenotype_Ontology:HP:0002382|Human_Phenotype_Ontology:HP:0002386|Human_Phenotype_Ontology:HP:0002402|Human_Phenotype_Ontology:HP:0002451|Human_Phenotype_Ontology:HP:0002458|Human_Phenotype_Ontology:HP:0002482|Human_Phenotype_Ontology:HP:0002499|Human_Phenotype_Ontology:HP:0002543|Human_Phenotype_Ontology:HP:0003222|Human_Phenotype_Ontology:HP:0003767|Human_Phenotype_Ontology:HP:0006833|Human_Phenotype_Ontology:HP:0007154|Human_Phenotype_Ontology:HP:0007176|Human_Phenotype_Ontology:HP:0007180|Human_Phenotype_Ontology:HP:0008203|Human_Phenotype_Ontology:HP:0008847|Human_Phenotype_Ontology:HP:0008870|Human_Phenotype_Ontology:HP:0008886|Human_Phenotype_Ontology:HP:0008893|Human_Phenotype_Ontology:HP:0008926|Human_Phenotype_Ontology:HP:0009062|Human_Phenotype_Ontology:HP:0012758|Human_Phenotype_Ontology:HP:0012759|Human_Phenotype_Ontology:HP:0200049|MedGen:C0008925|MedGen:C0013421|MedGen:C0020676|MedGen:C0393593|MedGen:C1843367|MedGen:C1970931|MedGen:C2750951|MedGen:C3552463|MedGen:C3806604|MedGen:C4021898|MedGen:CN001379|MedGen:CN117790|MedGen:CN200780|OMIM:PS128100|Genetic_Alliance:Seizures/6489|HP:HP:0000486|HP:HP:0000639|HP:HP:0001250|HP:HP:0001252|HP:HP:0001263|HP:HP:0001508|HP:HP:0001510|HP:HP:0002376|HP:HP:0002474|HP:HP:0002509|HP:HP:0002540|HP:HP:0010841|HP:HP:0011198|Human_Phenotype_Ontology:HP:0000486|Human_Phenotype_Ontology:HP:0000639|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0001535|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002376|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002471|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002474|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002489|Human_Phenotype_Ontology:HP:0002509|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002540|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006797|Human_Phenotype_Ontology:HP:0006828|Human_Phenotype_Ontology:HP:0006854|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007037|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007192|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007242|Human_Phenotype_Ontology:HP:0007247|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0008853|Human_Phenotype_Ontology:HP:0008878|Human_Phenotype_Ontology:HP:0008916|Human_Phenotype_Ontology:HP:0010520|Human_Phenotype_Ontology:HP:0010841|Human_Phenotype_Ontology:HP:0010842|Human_Phenotype_Ontology:HP:0011198|MedGen:C0028738|MedGen:C0036572|MedGen:C0038379|MedGen:C0231246|MedGen:C0560046|MedGen:C1838391|MedGen:C1847610|MedGen:C1855009|MedGen:C4020875|MedGen:C4021219|MedGen:C4023476|MedGen:CN001147|MedGen:C4310774|OMIM:616973|Genetic_Alliance:Myelodysplastic+syndromes/5021|MeSH:D009190|MedGen:C0026986|OMIM:137295.0002|OMIM:137295.0014|OMIM:614286|Orphanet:52688|MedGen:CN517202;DATES_ORDERED=0000-00-00|2015-12-04|2016-02-10|2016-08-08|2016-06-28 1 1737942 . A T . . START=1737942;STOP=1737942;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224715;RCV=RCV000210280|RCV000225195|RCV000225283;SCV=SCV000266336|SCV000282062|SCV000282063;ALLELE_ID=226498;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.239T>A;HGVS_P=NP_002065.1:p.Ile80Asn;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-62T>A:5_prime_UTR_variant|NM_002074.4:c.239T>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM;ALL_TRAITS=Seizures|Failure_to_thrive|Feeding_difficulties|Focal_seizures_with_impairment_of_consciousness_or_awareness|Cortical_visual_impairment|Global_developmental_delay|Growth_delay|Limb_hypertonia|Infantile_muscular_hypotonia|Multifocal_epileptiform_discharges|Muscular_hypotonia|Mental_retardation..autosomal_dominant_42|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|Acute_lymphoid_leukemia;ALL_PMIDS=21956720|27108799|25485910;ORIGIN=de_novo|unknown|somatic;XREFS=Genetic_Alliance:Seizures/6489|HP:HP:0001250|HP:HP:0001252|HP:HP:0001263|HP:HP:0001508|HP:HP:0001510|HP:HP:0002384|HP:HP:0002509|HP:HP:0008947|HP:HP:0010841|HP:HP:0011968|HP:HP:0100704|Human_Phenotype_Ontology:HP:0000595|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0001434|Human_Phenotype_Ontology:HP:0001508|Human_Phenotype_Ontology:HP:0001510|Human_Phenotype_Ontology:HP:0001512|Human_Phenotype_Ontology:HP:0001514|Human_Phenotype_Ontology:HP:0001517|Human_Phenotype_Ontology:HP:0001532|Human_Phenotype_Ontology:HP:0001535|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002384|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002449|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002509|Human_Phenotype_Ontology:HP:0002523|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0008847|Human_Phenotype_Ontology:HP:0008853|Human_Phenotype_Ontology:HP:0008870|Human_Phenotype_Ontology:HP:0008878|Human_Phenotype_Ontology:HP:0008886|Human_Phenotype_Ontology:HP:0008893|Human_Phenotype_Ontology:HP:0008916|Human_Phenotype_Ontology:HP:0008926|Human_Phenotype_Ontology:HP:0008947|Human_Phenotype_Ontology:HP:0010520|Human_Phenotype_Ontology:HP:0010572|Human_Phenotype_Ontology:HP:0010841|Human_Phenotype_Ontology:HP:0011968|Human_Phenotype_Ontology:HP:0100704|MedGen:C0036572|MedGen:C0149958|MedGen:C0155320|MedGen:C0231246|MedGen:C0232466|MedGen:C1838391|MedGen:C1860834|MedGen:C3552463|MedGen:C4020875|MedGen:C4021219|MedGen:CN001147|MedGen:C4310774|OMIM:616973|Gene:100310785|Genetic_Alliance:Acute+Lymphoblastic+Leukemia/188|MedGen:C0023449|OMIM:613065|Office_of_Rare_Diseases:522|Orphanet:513|SNOMED_CT:91857003;DATES_ORDERED=2016-02-10|2016-08-08 -1 1737948 . T C . . START=1737948;STOP=1737948;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224714;RCV=RCV000210269|RCV000225134;SCV=SCV000266335|SCV000282064;ALLELE_ID=226499;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.233A>G;HGVS_P=NP_002065.1:p.Lys78Arg;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-68A>G:5_prime_UTR_variant|NM_002074.4:c.233A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM;ALL_TRAITS=Seizures|Feeding_difficulties|Strabismus|Global_developmental_delay|Growth_delay|Infantile_muscular_hypotonia|EEG_with_generalized_epileptiform_discharges|Muscular_hypotonia|Mental_retardation..autosomal_dominant_42|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42;ALL_PMIDS=21956720|27108799;ORIGIN=de_novo|germline;XREFS=Genetic_Alliance:Seizures/6489|HP:HP:0000486|HP:HP:0001250|HP:HP:0001252|HP:HP:0001263|HP:HP:0001510|HP:HP:0008947|HP:HP:0011198|HP:HP:0011968|Human_Phenotype_Ontology:HP:0000486|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0001434|Human_Phenotype_Ontology:HP:0001510|Human_Phenotype_Ontology:HP:0001512|Human_Phenotype_Ontology:HP:0001514|Human_Phenotype_Ontology:HP:0001517|Human_Phenotype_Ontology:HP:0001532|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002449|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002523|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0008847|Human_Phenotype_Ontology:HP:0008870|Human_Phenotype_Ontology:HP:0008886|Human_Phenotype_Ontology:HP:0008893|Human_Phenotype_Ontology:HP:0008926|Human_Phenotype_Ontology:HP:0008947|Human_Phenotype_Ontology:HP:0010520|Human_Phenotype_Ontology:HP:0010572|Human_Phenotype_Ontology:HP:0010842|Human_Phenotype_Ontology:HP:0011198|Human_Phenotype_Ontology:HP:0011968|MedGen:C0036572|MedGen:C0038379|MedGen:C0232466|MedGen:C1860834|MedGen:C3552463|MedGen:C4020875|MedGen:C4023476|MedGen:CN001147|MedGen:C4310774|OMIM:616973;DATES_ORDERED=2016-02-10|2016-08-08 +1 1737948 . T C . . START=1737948;STOP=1737948;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224714;RCV=RCV000210269|RCV000225134|RCV000523590;SCV=SCV000266335|SCV000282064|SCV000618168;ALLELE_ID=226499;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.233A>G;HGVS_P=NP_002065.1:p.Lys78Arg;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-68A>G:5_prime_UTR_variant|NM_002074.4:c.233A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Sep_29..2017;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM|GeneDx;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM|GeneDx;ALL_TRAITS=Seizures|Feeding_difficulties|Strabismus|Global_developmental_delay|Growth_delay|Infantile_muscular_hypotonia|EEG_with_generalized_epileptiform_discharges|Muscular_hypotonia|Mental_retardation..autosomal_dominant_42|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|not_provided|Not_Provided;ALL_PMIDS=21956720|27108799;ORIGIN=de_novo|germline;XREFS=Genetic_Alliance:Seizures/6489|HP:HP:0000486|HP:HP:0001250|HP:HP:0001252|HP:HP:0001263|HP:HP:0001510|HP:HP:0008947|HP:HP:0011198|HP:HP:0011968|Human_Phenotype_Ontology:HP:0000486|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0001434|Human_Phenotype_Ontology:HP:0001510|Human_Phenotype_Ontology:HP:0001512|Human_Phenotype_Ontology:HP:0001514|Human_Phenotype_Ontology:HP:0001517|Human_Phenotype_Ontology:HP:0001532|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002449|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002523|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0008847|Human_Phenotype_Ontology:HP:0008870|Human_Phenotype_Ontology:HP:0008886|Human_Phenotype_Ontology:HP:0008893|Human_Phenotype_Ontology:HP:0008926|Human_Phenotype_Ontology:HP:0008947|Human_Phenotype_Ontology:HP:0010520|Human_Phenotype_Ontology:HP:0010572|Human_Phenotype_Ontology:HP:0010842|Human_Phenotype_Ontology:HP:0011198|Human_Phenotype_Ontology:HP:0011968|MedGen:C0036572|MedGen:C0038379|MedGen:C0232466|MedGen:C1860834|MedGen:C3552463|MedGen:C4020875|MedGen:C4023476|MedGen:CN001147|MedGen:C4310774|OMIM:616973|MedGen:CN517202;DATES_ORDERED=2016-02-10|2016-08-08|2017-09-29 1 1737951 . C G . . START=1737951;STOP=1737951;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=431082;RCV=RCV000496115;SCV=SCV000574520;ALLELE_ID=424605;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.230G>C;HGVS_P=NP_002065.1:p.Gly77Ala;MOLECULAR_CONSEQUENCE=NM_002074.4:c.230G>C:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=KK_Women’s_and_Children’s_Hospital;SUBMITTERS_ORDERED=KK_Women’s_and_Children’s_Hospital;ALL_TRAITS=Mental_retardation..autosomal_dominant_42;ALL_PMIDS=25741868|27759915;ORIGIN=de_novo;XREFS=Human_Phenotype_Ontology:HP:0000175|Human_Phenotype_Ontology:HP:0000565|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001290|Human_Phenotype_Ontology:HP:0001332|Human_Phenotype_Ontology:HP:0006721|MedGen:C4310774|OMIM:616973;DATES_ORDERED=0000-00-00 1 1737952 . C T . . START=1737952;STOP=1737952;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224713;RCV=RCV000210256;SCV=SCV000266334;ALLELE_ID=226500;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.229G>A;HGVS_P=NP_002065.1:p.Gly77Ser;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-72G>A:5_prime_UTR_variant|NM_002074.4:c.229G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2016;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Global_developmental_delay|Muscular_hypotonia;ALL_PMIDS=21956720|27108799;ORIGIN=de_novo;XREFS=HP:HP:0001252|HP:HP:0001263|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007342|MedGen:C4020875|MedGen:CN001147;DATES_ORDERED=2016-02-10 1 1737953 . A C . . START=1737953;STOP=1737953;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224712;RCV=RCV000210277;SCV=SCV000266333;ALLELE_ID=226501;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.228T>G;HGVS_P=NP_002065.1:p.Asp76Glu;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-73T>G:5_prime_UTR_variant|NM_002074.4:c.228T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_10..2016;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center;ALL_TRAITS=Seizures|Failure_to_thrive|Focal_seizures_with_impairment_of_consciousness_or_awareness|Strabismus|Global_developmental_delay|Limb_hypertonia;ALL_PMIDS=21956720|27108799;ORIGIN=de_novo;XREFS=Genetic_Alliance:Seizures/6489|HP:HP:0000486|HP:HP:0001250|HP:HP:0001263|HP:HP:0001508|HP:HP:0002384|HP:HP:0002509|Human_Phenotype_Ontology:HP:0000486|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001250|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001275|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001303|Human_Phenotype_Ontology:HP:0001508|Human_Phenotype_Ontology:HP:0001535|Human_Phenotype_Ontology:HP:0002125|Human_Phenotype_Ontology:HP:0002182|Human_Phenotype_Ontology:HP:0002279|Human_Phenotype_Ontology:HP:0002306|Human_Phenotype_Ontology:HP:0002348|Human_Phenotype_Ontology:HP:0002384|Human_Phenotype_Ontology:HP:0002391|Human_Phenotype_Ontology:HP:0002417|Human_Phenotype_Ontology:HP:0002430|Human_Phenotype_Ontology:HP:0002431|Human_Phenotype_Ontology:HP:0002432|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002434|Human_Phenotype_Ontology:HP:0002437|Human_Phenotype_Ontology:HP:0002466|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002479|Human_Phenotype_Ontology:HP:0002509|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002794|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0006997|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0008853|Human_Phenotype_Ontology:HP:0008878|Human_Phenotype_Ontology:HP:0008916|Human_Phenotype_Ontology:HP:0010520|MedGen:C0036572|MedGen:C0038379|MedGen:C0149958|MedGen:C0231246|MedGen:C1838391|MedGen:C4020875;DATES_ORDERED=2016-02-10 1 1737954 . T C . . START=1737954;STOP=1737954;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=224711;RCV=RCV000210265|RCV000225254|RCV000225357;SCV=SCV000266332|SCV000282057|SCV000282058;ALLELE_ID=226502;SYMBOL=GNB1;HGVS_C=NM_002074.4:c.227A>G;HGVS_P=NP_002065.1:p.Asp76Gly;MOLECULAR_CONSEQUENCE=NM_001282538.1:c.-74A>G:5_prime_UTR_variant|NM_002074.4:c.227A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM;SUBMITTERS_ORDERED=Institute_for_Genomic_Medicine..Columbia_University..Columbia_University_Medical_Center|OMIM;ALL_TRAITS=Intellectual_disability|Global_developmental_delay|Infantile_muscular_hypotonia|Muscular_hypotonia|Mental_retardation..autosomal_dominant_42|MENTAL_RETARDATION..AUTOSOMAL_DOMINANT_42|Acute_lymphoid_leukemia;ALL_PMIDS=21956720|27108799|25485910;ORIGIN=de_novo|unknown|somatic;XREFS=HP:HP:0001249|HP:HP:0001252|HP:HP:0001263|HP:HP:0008947|Human_Phenotype_Ontology:HP:0000730|Human_Phenotype_Ontology:HP:0000754|Human_Phenotype_Ontology:HP:0001249|Human_Phenotype_Ontology:HP:0001252|Human_Phenotype_Ontology:HP:0001255|Human_Phenotype_Ontology:HP:0001263|Human_Phenotype_Ontology:HP:0001267|Human_Phenotype_Ontology:HP:0001277|Human_Phenotype_Ontology:HP:0001286|Human_Phenotype_Ontology:HP:0001292|Human_Phenotype_Ontology:HP:0001318|Human_Phenotype_Ontology:HP:0002122|Human_Phenotype_Ontology:HP:0002192|Human_Phenotype_Ontology:HP:0002316|Human_Phenotype_Ontology:HP:0002382|Human_Phenotype_Ontology:HP:0002386|Human_Phenotype_Ontology:HP:0002402|Human_Phenotype_Ontology:HP:0002433|Human_Phenotype_Ontology:HP:0002449|Human_Phenotype_Ontology:HP:0002458|Human_Phenotype_Ontology:HP:0002473|Human_Phenotype_Ontology:HP:0002482|Human_Phenotype_Ontology:HP:0002499|Human_Phenotype_Ontology:HP:0002523|Human_Phenotype_Ontology:HP:0002532|Human_Phenotype_Ontology:HP:0002543|Human_Phenotype_Ontology:HP:0003767|Human_Phenotype_Ontology:HP:0006793|Human_Phenotype_Ontology:HP:0006833|Human_Phenotype_Ontology:HP:0006867|Human_Phenotype_Ontology:HP:0006885|Human_Phenotype_Ontology:HP:0006935|Human_Phenotype_Ontology:HP:0007005|Human_Phenotype_Ontology:HP:0007094|Human_Phenotype_Ontology:HP:0007106|Human_Phenotype_Ontology:HP:0007154|Human_Phenotype_Ontology:HP:0007174|Human_Phenotype_Ontology:HP:0007176|Human_Phenotype_Ontology:HP:0007180|Human_Phenotype_Ontology:HP:0007224|Human_Phenotype_Ontology:HP:0007228|Human_Phenotype_Ontology:HP:0007342|Human_Phenotype_Ontology:HP:0008947|Human_Phenotype_Ontology:HP:0010572|MedGen:C1843367|MedGen:C1860834|MedGen:C4020875|MedGen:CN001147|MedGen:C4310774|OMIM:616973|Gene:100310785|Genetic_Alliance:Acute+Lymphoblastic+Leukemia/188|MedGen:C0023449|OMIM:613065|Office_of_Rare_Diseases:522|Orphanet:513|SNOMED_CT:91857003;DATES_ORDERED=2016-02-10|2016-08-08 1 1956362 . G A . . START=1956362;STOP=1956362;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=256824;RCV=RCV000245842;SCV=SCV000305551;ALLELE_ID=249668;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.69-19G>A;MOLECULAR_CONSEQUENCE=NM_000815.4:c.69-19G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 1956459 . C T . . START=1956459;STOP=1956459;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=374418;RCV=RCV000416042;SCV=SCV000493139;ALLELE_ID=361304;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.147C>T;HGVS_P=NP_000806.2:p.Ala49_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.147C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_31..2016;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen..;SUBMITTERS_ORDERED=Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2016-08-31 +1 1956396 . C T . . START=1956396;STOP=1956396;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460016;RCV=RCV000533983;SCV=SCV000632051;ALLELE_ID=447688;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.84C>T;HGVS_P=NP_000806.2:p.Ile28_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.84C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_23..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-01-23 +1 1956408 . G C . . START=1956408;STOP=1956408;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460019;RCV=RCV000538743;SCV=SCV000632054;ALLELE_ID=447653;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.96G>C;HGVS_P=NP_000806.2:p.Val32_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.96G>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_26..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-07-26 +1 1956459 . C T . . START=1956459;STOP=1956459;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=374418;RCV=RCV000416042;SCV=SCV000493139;ALLELE_ID=361304;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.147C>T;HGVS_P=NP_000806.2:p.Ala49_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.147C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_31..2016;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen;SUBMITTERS_ORDERED=Praxis_fuer_Humangenetik_Tuebingen;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2016-08-31 +1 1956970 . C T . . START=1956970;STOP=1956970;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460008;RCV=RCV000555228;SCV=SCV000632041;ALLELE_ID=447663;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.263C>T;HGVS_P=NP_000806.2:p.Thr88Met;MOLECULAR_CONSEQUENCE=NM_000815.4:c.263C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_04..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-05-04 1 1957037 . T C . . START=1957037;STOP=1957037;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=256823;RCV=RCV000254456;SCV=SCV000305550;ALLELE_ID=249669;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.330T>C;HGVS_P=NP_000806.2:p.Gly110_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.330T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 +1 1957112 . C T . . START=1957112;STOP=1957112;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460009;RCV=RCV000533383;SCV=SCV000632042;ALLELE_ID=447690;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.405C>T;HGVS_P=NP_000806.2:p.His135_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.405C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_12..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-08-12 +1 1957121 . G A . . START=1957121;STOP=1957121;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460010;RCV=RCV000543716;SCV=SCV000632043;ALLELE_ID=447710;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.414G>A;HGVS_P=NP_000806.2:p.Thr138_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.414G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_28..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-07-28 +1 1957183 . C T . . START=1957183;STOP=1957183;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=447367;RCV=RCV000516909|RCV000557679;SCV=SCV000613370|SCV000632044;ALLELE_ID=440428;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.470+6C>T;MOLECULAR_CONSEQUENCE=NM_000815.4:c.470+6C>T:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_06..2017;ALL_SUBMITTERS=Athena_Diagnostics_Inc|Invitae;SUBMITTERS_ORDERED=Athena_Diagnostics_Inc|Invitae;ALL_TRAITS=not_specified|Idiopathic_generalized_epilepsy;ALL_PMIDS=26467025|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-06-09|2017-07-06 +1 1959008 . C A . . START=1959008;STOP=1959008;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460011;RCV=RCV000536140;SCV=SCV000632045;ALLELE_ID=447557;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.471-8C>A;MOLECULAR_CONSEQUENCE=NM_000815.4:c.471-8C>A:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_16..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-06-16 +1 1959037 . C T . . START=1959037;STOP=1959037;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460012;RCV=RCV000546205;SCV=SCV000632046;ALLELE_ID=447712;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.492C>T;HGVS_P=NP_000806.2:p.Cys164_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.492C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_05..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-03-05 +1 1959067 . C T . . START=1959067;STOP=1959067;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460013;RCV=RCV000556453;SCV=SCV000632047;ALLELE_ID=447670;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.522C>T;HGVS_P=NP_000806.2:p.Asp174_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.522C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_19..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-07-19 1 1959075 . A C . . START=1959075;STOP=1959075;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=16212;RCV=RCV000017598;SCV=SCV000037871;ALLELE_ID=31251;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.530A>C;HGVS_P=NP_000806.2:p.Glu177Ala;MOLECULAR_CONSEQUENCE=NM_000815.4:c.530A>C:missense_variant;CLINICAL_SIGNIFICANCE=risk_factor;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_01..2004;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Generalized_epilepsy_with_febrile_seizures_plus_type_5|GENERALIZED_EPILEPSY_WITH_FEBRILE_SEIZURES_PLUS..TYPE_5..SUSCEPTIBILITY_TO;ALL_PMIDS=15115768;ORIGIN=germline;XREFS=Genetics_Home_Reference:genetic-epilepsy-with-febrile-seizures-plus|MedGen:C3150401|OMIM:613060;DATES_ORDERED=2004-07-01 -1 1959699 . G A . . START=1959699;STOP=1959699;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=16213;RCV=RCV000017599|RCV000017600|RCV000022558;SCV=SCV000037872|SCV000037873|SCV000043847;ALLELE_ID=31252;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.659G>A;HGVS_P=NP_000806.2:p.Arg220His;MOLECULAR_CONSEQUENCE=NM_000815.4:c.659G>A:missense_variant;CLINICAL_SIGNIFICANCE=risk_factor;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jun_01..2005;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Generalized_epilepsy_with_febrile_seizures_plus_type_5|GENERALIZED_EPILEPSY_WITH_FEBRILE_SEIZURES_PLUS..TYPE_5..SUSCEPTIBILITY_TO|Epilepsy..juvenile_myoclonic_7|Epilepsy..idiopathic_generalized_10;ALL_PMIDS=15115768|16023832;ORIGIN=germline;XREFS=Genetics_Home_Reference:genetic-epilepsy-with-febrile-seizures-plus|MedGen:C3150401|OMIM:613060|MedGen:C2751604|OMIM:137163.0002|Genetic_Alliance:Epilepsy%2C+idiopathic+generalized+10/8327|MedGen:C2751603;DATES_ORDERED=2005-06-01 +1 1959636 . G A . . START=1959636;STOP=1959636;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=447368;RCV=RCV000518032;SCV=SCV000613371;ALLELE_ID=440429;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.596G>A;HGVS_P=NP_000806.2:p.Ser199Asn;MOLECULAR_CONSEQUENCE=NM_000815.4:c.596G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_20..2016;ALL_SUBMITTERS=Athena_Diagnostics_Inc;SUBMITTERS_ORDERED=Athena_Diagnostics_Inc;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=26467025;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-20 +1 1959699 . G A . . START=1959699;STOP=1959699;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=16213;RCV=RCV000017599|RCV000017600|RCV000022558|RCV000535201;SCV=SCV000037872|SCV000037873|SCV000043847|SCV000632048;ALLELE_ID=31252;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.659G>A;HGVS_P=NP_000806.2:p.Arg220His;MOLECULAR_CONSEQUENCE=NM_000815.4:c.659G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign..risk_factor;CLINICAL_SIGNIFICANCE_ORDERED=risk_factor|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Aug_14..2017;ALL_SUBMITTERS=OMIM|Invitae;SUBMITTERS_ORDERED=OMIM|Invitae;ALL_TRAITS=Generalized_epilepsy_with_febrile_seizures_plus_type_5|GENERALIZED_EPILEPSY_WITH_FEBRILE_SEIZURES_PLUS..TYPE_5..SUSCEPTIBILITY_TO|Epilepsy..juvenile_myoclonic_7|Epilepsy..idiopathic_generalized_10|Idiopathic_generalized_epilepsy;ALL_PMIDS=15115768|16023832|28492532;ORIGIN=germline;XREFS=Genetics_Home_Reference:genetic-epilepsy-with-febrile-seizures-plus|MedGen:C3150401|OMIM:613060|MedGen:C2751604|OMIM:137163.0002|Genetic_Alliance:Epilepsy%2C+idiopathic+generalized+10/8327|MedGen:C2751603|Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2005-06-01|2017-08-14 1 1959708 . C T . . START=1959708;STOP=1959708;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=218470;RCV=RCV000203171;SCV=SCV000257725;ALLELE_ID=215187;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.668C>T;HGVS_P=NP_000806.2:p.Thr223Met;MOLECULAR_CONSEQUENCE=NM_000815.4:c.668C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_14..2015;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;SUBMITTERS_ORDERED=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|not_specified;ORIGIN=unknown;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-14 -1 1960633 . G A . . START=1960633;STOP=1960633;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=235308;RCV=RCV000224860;SCV=SCV000280781;ALLELE_ID=236995;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.775G>A;HGVS_P=NP_000806.2:p.Val259Ile;MOLECULAR_CONSEQUENCE=NM_000815.4:c.775G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_01..2016;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-02-01-06:00 +1 1960586 . T C . . START=1960586;STOP=1960586;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460014;RCV=RCV000550107;SCV=SCV000632049;ALLELE_ID=447714;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.728T>C;HGVS_P=NP_000806.2:p.Leu243Pro;MOLECULAR_CONSEQUENCE=NM_000815.4:c.728T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_20..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-07-20 +1 1960633 . G A . . START=1960633;STOP=1960633;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=235308;RCV=RCV000224860;SCV=SCV000280781;ALLELE_ID=236995;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.775G>A;HGVS_P=NP_000806.2:p.Val259Ile;MOLECULAR_CONSEQUENCE=NM_000815.4:c.775G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_01..2016;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2016-02-01 1 1960674 . C T . . START=1960674;STOP=1960674;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=256825;RCV=RCV000248963;SCV=SCV000305552;ALLELE_ID=249670;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.816C>T;HGVS_P=NP_000806.2:p.Ser272_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.816C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 +1 1960689 . C T . . START=1960689;STOP=1960689;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460015;RCV=RCV000528248;SCV=SCV000632050;ALLELE_ID=447672;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.831C>T;HGVS_P=NP_000806.2:p.Pro277_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.831C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_23..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-02-23 +1 1961009 . G A . . START=1961009;STOP=1961009;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460017;RCV=RCV000550297;SCV=SCV000632052;ALLELE_ID=447427;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.867G>A;HGVS_P=NP_000806.2:p.Thr289_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.867G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_22..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-04-22 +1 1961111 . C A . . START=1961111;STOP=1961111;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460018;RCV=RCV000528733;SCV=SCV000632053;ALLELE_ID=447681;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.969C>A;HGVS_P=NP_000806.2:p.Ala323_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.969C>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_28..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-06-28 +1 1961144 . C T . . START=1961144;STOP=1961144;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460002;RCV=RCV000540976;SCV=SCV000632034;ALLELE_ID=447558;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.1002C>T;HGVS_P=NP_000806.2:p.Asn334_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.1002C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_12..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-08-12 1 1961408 . C T . . START=1961408;STOP=1961408;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=256822;RCV=RCV000249647;SCV=SCV000305549;ALLELE_ID=249671;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.1060-14C>T;MOLECULAR_CONSEQUENCE=NM_000815.4:c.1060-14C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 1961470 . G A . . START=1961470;STOP=1961470;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=375540;RCV=RCV000417018;SCV=SCV000494562;ALLELE_ID=362315;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.1108G>A;HGVS_P=NP_000806.2:p.Val370Ile;MOLECULAR_CONSEQUENCE=NM_000815.4:c.1108G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_16..2016;ALL_SUBMITTERS=Neurogenetics_Laboratory_-_MEYER..AOU_Meyer;SUBMITTERS_ORDERED=Neurogenetics_Laboratory_-_MEYER..AOU_Meyer;ALL_TRAITS=Epileptic_encephalopathy;ALL_PMIDS=25741868;ORIGIN=unknown;XREFS=Human_Phenotype_Ontology:HP:0200134|MedGen:C0543888;DATES_ORDERED=2016-11-16 +1 1961415 . C T . . START=1961415;STOP=1961415;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460003;RCV=RCV000555572;SCV=SCV000632035;ALLELE_ID=447724;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.1060-7C>T;MOLECULAR_CONSEQUENCE=NM_000815.4:c.1060-7C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_16..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-05-16 +1 1961466 . C T . . START=1961466;STOP=1961466;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460004;RCV=RCV000524915;SCV=SCV000632036;ALLELE_ID=447683;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.1104C>T;HGVS_P=NP_000806.2:p.Ala368_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.1104C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-08-11 +1 1961467 . G A . . START=1961467;STOP=1961467;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=447365;RCV=RCV000517771;SCV=SCV000613368;ALLELE_ID=440430;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.1105G>A;HGVS_P=NP_000806.2:p.Gly369Ser;MOLECULAR_CONSEQUENCE=NM_000815.4:c.1105G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_23..2017;ALL_SUBMITTERS=Athena_Diagnostics_Inc;SUBMITTERS_ORDERED=Athena_Diagnostics_Inc;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=26467025;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-23 +1 1961469 . C A . . START=1961469;STOP=1961469;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460005;RCV=RCV000541195;SCV=SCV000632037;ALLELE_ID=447685;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.1107C>A;HGVS_P=NP_000806.2:p.Gly369_eq_;MOLECULAR_CONSEQUENCE=NM_000815.4:c.1107C>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_18..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-05-18 +1 1961470 . G A . . START=1961470;STOP=1961470;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=375540;RCV=RCV000417018|RCV000556057;SCV=SCV000494562|SCV000632038;ALLELE_ID=362315;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.1108G>A;HGVS_P=NP_000806.2:p.Val370Ile;MOLECULAR_CONSEQUENCE=NM_000815.4:c.1108G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2017;ALL_SUBMITTERS=Neurogenetics_Laboratory_-_MEYER..AOU_Meyer|Invitae;SUBMITTERS_ORDERED=Neurogenetics_Laboratory_-_MEYER..AOU_Meyer|Invitae;ALL_TRAITS=Epileptic_encephalopathy|Idiopathic_generalized_epilepsy;ALL_PMIDS=25741868|28492532;ORIGIN=unknown|germline;XREFS=Human_Phenotype_Ontology:HP:0200134|MedGen:C0543888|Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2016-11-16|2017-06-14 +1 1961512 . C T . . START=1961512;STOP=1961512;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460006;RCV=RCV000529757;SCV=SCV000632039;ALLELE_ID=447731;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.1150C>T;HGVS_P=NP_000806.2:p.Pro384Ser;MOLECULAR_CONSEQUENCE=NM_000815.4:c.1150C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_29..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-04-29 +1 1961528 . G C . . START=1961528;STOP=1961528;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=447366;RCV=RCV000518660;SCV=SCV000613369;ALLELE_ID=440431;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.1166G>C;HGVS_P=NP_000806.2:p.Gly389Ala;MOLECULAR_CONSEQUENCE=NM_000815.4:c.1166G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_30..2016;ALL_SUBMITTERS=Athena_Diagnostics_Inc;SUBMITTERS_ORDERED=Athena_Diagnostics_Inc;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=26467025;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-30 +1 1961564 . C T . . START=1961564;STOP=1961564;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=460007;RCV=RCV000544951;SCV=SCV000632040;ALLELE_ID=447432;SYMBOL=GABRD;HGVS_C=NM_000815.4:c.1202C>T;HGVS_P=NP_000806.2:p.Thr401Met;MOLECULAR_CONSEQUENCE=NM_000815.4:c.1202C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_26..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Idiopathic_generalized_epilepsy;ALL_PMIDS=28492532;ORIGIN=germline;XREFS=Gene:1957|Genetic_Alliance:Idiopathic+generalized+epilepsy/8637|MedGen:C0270850|OMIM:600669|SNOMED_CT:36803009;DATES_ORDERED=2017-07-26 1 2160164 . G A . . START=2160164;STOP=2160164;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392772;RCV=RCV000441067;SCV=SCV000536096;ALLELE_ID=364806;SYMBOL=SKI;HGVS_C=NM_003036.3:c.-42G>A;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_16..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-16 1 2160178 . G T . . START=2160178;STOP=2160178;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=393061;RCV=RCV000425453;SCV=SCV000536418;ALLELE_ID=364809;SYMBOL=SKI;HGVS_C=NM_003036.3:c.-28G>T;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_17..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-17 1 2160187 . G A . . START=2160187;STOP=2160187;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=386778;RCV=RCV000444804;SCV=SCV000528551;ALLELE_ID=364818;SYMBOL=SKI;HGVS_C=NM_003036.3:c.-19G>A;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_07..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-06-07 1 2160216 . C T . . START=2160216;STOP=2160216;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=426734;RCV=RCV000490080;SCV=SCV000577262;ALLELE_ID=414765;SYMBOL=SKI;HGVS_C=NM_003036.3:c.11C>T;HGVS_P=NP_003027.1:p.Ala4Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.11C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_06..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-04-06 -1 2160264 . C T . . START=2160264;STOP=2160264;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409969;RCV=RCV000457554;SCV=SCV000550372;ALLELE_ID=391048;SYMBOL=SKI;HGVS_C=NM_003036.3:c.59C>T;HGVS_P=NP_003027.1:p.Thr20Met;MOLECULAR_CONSEQUENCE=NM_003036.3:c.59C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_30..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-05-30 +1 2160264 . C T . . START=2160264;STOP=2160264;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409969;RCV=RCV000457554;SCV=SCV000550372;ALLELE_ID=391048;SYMBOL=SKI;HGVS_C=NM_003036.3:c.59C>T;HGVS_P=NP_003027.1:p.Thr20Met;MOLECULAR_CONSEQUENCE=NM_003036.3:c.59C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_30..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-05-30 1 2160267 . T G . . START=2160267;STOP=2160267;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=224869;RCV=RCV000210450;SCV=SCV000266527;ALLELE_ID=226716;SYMBOL=SKI;HGVS_C=NM_003036.3:c.62T>G;HGVS_P=NP_003027.1:p.Leu21Arg;MOLECULAR_CONSEQUENCE=NM_003036.3:c.62T>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|23023332;ORIGIN=de_novo;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=0000-00-00 1 2160299 . C G . . START=2160299;STOP=2160299;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=37259;RCV=RCV000030817;SCV=SCV000266525|SCV000053492;ALLELE_ID=45849;SYMBOL=SKI;HGVS_C=NM_003036.3:c.94C>G;HGVS_P=NP_003027.1:p.Leu32Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.94C>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Feb_01..2015;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23023332|23103230|24736733;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-02-01|0000-00-00 -1 2160304 . C G . . START=2160304;STOP=2160304;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139112;RCV=RCV000173298|RCV000226611;SCV=SCV000269831|SCV000224395|SCV000171637|SCV000605113|SCV000309367|SCV000287846;ALLELE_ID=142815;SYMBOL=SKI;HGVS_C=NM_003036.3:c.99C>G;HGVS_P=NP_003027.1:p.Gly33_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.99C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=6;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_15..2017;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics|PreventionGenetics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Invitae..;ALL_TRAITS=not_specified|Not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=24033266|25741868|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-05-27|2015-01-13|2015-11-03|0000-00-00|2017-02-15|2017-01-25 -1 2160305 . G A . . START=2160305;STOP=2160305;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=37261;RCV=RCV000030819|RCV000200686;SCV=SCV000266520|SCV000053494|SCV000250672;ALLELE_ID=45851;SYMBOL=SKI;HGVS_C=NM_003036.3:c.100G>A;HGVS_P=NP_003027.1:p.Gly34Ser;MOLECULAR_CONSEQUENCE=NM_003036.3:c.100G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Feb_01..2015;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|GeneDx;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|GeneDx;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME|not_provided|Not_Provided;ALL_PMIDS=20301454|23023332|23103230|24736733;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN221809;DATES_ORDERED=2015-02-01|0000-00-00|2014-12-11 -1 2160305 . G T . . START=2160305;STOP=2160305;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=37262;RCV=RCV000030820;SCV=SCV000053495|SCV000266522;ALLELE_ID=45852;SYMBOL=SKI;HGVS_C=NM_003036.3:c.100G>T;HGVS_P=NP_003027.1:p.Gly34Cys;MOLECULAR_CONSEQUENCE=NM_003036.3:c.100G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Nov_02..2012;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23023332|23103230;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2012-11-02|0000-00-00 +1 2160304 . C G . . START=2160304;STOP=2160304;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139112;RCV=RCV000173298|RCV000226611;SCV=SCV000269831|SCV000224395|SCV000171637|SCV000605113|SCV000309367|SCV000287846;ALLELE_ID=142815;SYMBOL=SKI;HGVS_C=NM_003036.3:c.99C>G;HGVS_P=NP_003027.1:p.Gly33_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.99C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=6;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_03..2017;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics|PreventionGenetics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Invitae;ALL_TRAITS=not_specified|Not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=24033266|25741868|20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-05-27|2015-01-13|2015-11-03|0000-00-00|2017-02-15|2017-08-03 +1 2160305 . G A . . START=2160305;STOP=2160305;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=37261;RCV=RCV000030819|RCV000200686;SCV=SCV000266520|SCV000053494|SCV000250672;ALLELE_ID=45851;SYMBOL=SKI;HGVS_C=NM_003036.3:c.100G>A;HGVS_P=NP_003027.1:p.Gly34Ser;MOLECULAR_CONSEQUENCE=NM_003036.3:c.100G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Feb_01..2015;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|GeneDx;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|GeneDx;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME|not_provided|Not_Provided;ALL_PMIDS=20301454|23023332|23103230|24736733;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN517202;DATES_ORDERED=2015-02-01|0000-00-00|2014-12-11 +1 2160305 . G T . . START=2160305;STOP=2160305;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=37262;RCV=RCV000030820;SCV=SCV000053495|SCV000266522|SCV000637271;ALLELE_ID=45852;SYMBOL=SKI;HGVS_C=NM_003036.3:c.100G>T;HGVS_P=NP_003027.1:p.Gly34Cys;MOLECULAR_CONSEQUENCE=NM_003036.3:c.100G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic|pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jun_15..2017;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|Invitae;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23023332|23103230|28492532;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2012-11-02|0000-00-00|2017-06-15 1 2160306 . G A . . START=2160306;STOP=2160306;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=37260;RCV=RCV000030818;SCV=SCV000266523|SCV000053493;ALLELE_ID=45850;SYMBOL=SKI;HGVS_C=NM_003036.3:c.101G>A;HGVS_P=NP_003027.1:p.Gly34Asp;MOLECULAR_CONSEQUENCE=NM_003036.3:c.101G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Feb_01..2015;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23023332|24736733;ORIGIN=de_novo|unknown;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-02-01|0000-00-00 1 2160306 . G T . . START=2160306;STOP=2160306;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=39783;RCV=RCV000033005;SCV=SCV000056784;ALLELE_ID=48382;SYMBOL=SKI;HGVS_C=NM_003036.3:c.101G>T;HGVS_P=NP_003027.1:p.Gly34Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.101G>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Feb_01..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23103230|24736733;ORIGIN=unknown;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-02-01 1 2160308 . C T . . START=2160308;STOP=2160308;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=39786;RCV=RCV000033008;SCV=SCV000266524|SCV000056787;ALLELE_ID=48385;SYMBOL=SKI;HGVS_C=NM_003036.3:c.103C>T;HGVS_P=NP_003027.1:p.Pro35Ser;MOLECULAR_CONSEQUENCE=NM_003036.3:c.103C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Feb_01..2015;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23023332|23103230|24736733;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-02-01|0000-00-00 1 2160309 . C A . . START=2160309;STOP=2160309;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=39785;RCV=RCV000033007;SCV=SCV000056786;ALLELE_ID=48384;SYMBOL=SKI;HGVS_C=NM_003036.3:c.104C>A;HGVS_P=NP_003027.1:p.Pro35Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.104C>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_02..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23103230;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2012-11-02 -1 2160309 . C G . . START=2160309;STOP=2160309;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409977;RCV=RCV000475694;SCV=SCV000597058|SCV000550383;ALLELE_ID=390987;SYMBOL=SKI;HGVS_C=NM_003036.3:c.104C>G;HGVS_P=NP_003027.1:p.Pro35Arg;MOLECULAR_CONSEQUENCE=NM_003036.3:c.104C>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_23..2016;ALL_SUBMITTERS=Invitae..|Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Invitae..|Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=Shprintzen-Goldberg_syndrome|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|23023332|23103230|25741868;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-09-23|2016-09-21 +1 2160309 . C G . . START=2160309;STOP=2160309;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409977;RCV=RCV000475694;SCV=SCV000597058|SCV000550383;ALLELE_ID=390987;SYMBOL=SKI;HGVS_C=NM_003036.3:c.104C>G;HGVS_P=NP_003027.1:p.Pro35Arg;MOLECULAR_CONSEQUENCE=NM_003036.3:c.104C>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_23..2016;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago|Invitae;SUBMITTERS_ORDERED=Invitae|Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=Shprintzen-Goldberg_syndrome|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|23023332|23103230|25741868;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-09-23|2016-09-21 1 2160310 . G A . . START=2160310;STOP=2160310;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=386838;RCV=RCV000437914;SCV=SCV000528633;ALLELE_ID=364811;SYMBOL=SKI;HGVS_C=NM_003036.3:c.105G>A;HGVS_P=NP_003027.1:p.Pro35_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.105G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_22..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-06-22 +1 2160321 . C T . . START=2160321;STOP=2160321;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463393;RCV=RCV000557750;SCV=SCV000637274;ALLELE_ID=447643;SYMBOL=SKI;HGVS_C=NM_003036.3:c.116C>T;HGVS_P=NP_003027.1:p.Ser39Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.116C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_23..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-03-23 +1 2160334 . G A . . START=2160334;STOP=2160334;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463395;RCV=RCV000551618;SCV=SCV000637279;ALLELE_ID=447644;SYMBOL=SKI;HGVS_C=NM_003036.3:c.129G>A;HGVS_P=NP_003027.1:p.Ala43_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.129G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_28..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-07-28 1 2160343 . C T . . START=2160343;STOP=2160343;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213665;RCV=RCV000198300;SCV=SCV000250648;ALLELE_ID=209445;SYMBOL=SKI;HGVS_C=NM_003036.3:c.138C>T;HGVS_P=NP_003027.1:p.Ala46_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.138C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_06..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-01-06 -1 2160347 . A C . . START=2160347;STOP=2160347;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432531;RCV=RCV000498045;SCV=SCV000590265;ALLELE_ID=425338;SYMBOL=SKI;HGVS_C=NM_003036.3:c.142A>C;HGVS_P=NP_003027.1:p.Lys48Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.142A>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_05..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-05 +1 2160347 . A C . . START=2160347;STOP=2160347;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432531;RCV=RCV000498045|RCV000557338;SCV=SCV000590265|SCV000637280;ALLELE_ID=425338;SYMBOL=SKI;HGVS_C=NM_003036.3:c.142A>C;HGVS_P=NP_003027.1:p.Lys48Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.142A>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_06..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-06-05|2017-07-06 1 2160352 . G A . . START=2160352;STOP=2160352;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=385331;RCV=RCV000445172;SCV=SCV000526570;ALLELE_ID=364907;SYMBOL=SKI;HGVS_C=NM_003036.3:c.147G>A;HGVS_P=NP_003027.1:p.Lys49_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.147G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_06..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-04-06 +1 2160388 . G C . . START=2160388;STOP=2160388;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463397;RCV=RCV000527350;SCV=SCV000637286;ALLELE_ID=447807;SYMBOL=SKI;HGVS_C=NM_003036.3:c.183G>C;HGVS_P=NP_003027.1:p.Pro61_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.183G>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_10..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-07-10 1 2160390 . C G . . START=2160390;STOP=2160390;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139113;RCV=RCV000128047;SCV=SCV000269830|SCV000171638|SCV000309357|SCV000605112;ALLELE_ID=142816;SYMBOL=SKI;HGVS_C=NM_003036.3:c.185C>G;HGVS_P=NP_003027.1:p.Ala62Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.185C>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=4;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jun_05..2017;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics|PreventionGenetics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=GeneDx|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics;ALL_TRAITS=not_specified|not_specified|Not_specified|NOT_SPECIFIED;ALL_PMIDS=24033266|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-05-16|2015-02-20|0000-00-00|2017-06-05 -1 2160394 . G GGTGCCC . . START=2160396;STOP=2160401;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409976;RCV=RCV000467436;SCV=SCV000550382;ALLELE_ID=391069;SYMBOL=SKI;HGVS_C=NM_003036.3:c.191_196dupTGCCCG;HGVS_P=NP_003027.1:p.Pro65_Ala66insValPro;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-08-11 -1 2160421 . C T . . START=2160421;STOP=2160421;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=193249;RCV=RCV000204079|RCV000225703|RCV000242995;SCV=SCV000261590|SCV000224394|SCV000605120|SCV000250664|SCV000309360|SCV000319962;ALLELE_ID=190413;SYMBOL=SKI;HGVS_C=NM_003036.3:c.216C>T;HGVS_P=NP_003027.1:p.Pro72_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.216C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|uncertain_significance|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=4;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_05..2017;ALL_SUBMITTERS=Invitae..|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Ambry_Genetics;SUBMITTERS_ORDERED=Invitae..|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Ambry_Genetics;ALL_TRAITS=Shprintzen-Goldberg_syndrome|not_specified|NOT_SPECIFIED|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301454|25741868|20301299|24882528|25173340;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN169374|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2016-12-19|2015-06-08|2015-03-02|0000-00-00|2017-05-05|2015-08-08 +1 2160394 . G GGTGCCC . . START=2160396;STOP=2160401;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409976;RCV=RCV000467436;SCV=SCV000550382;ALLELE_ID=391069;SYMBOL=SKI;HGVS_C=NM_003036.3:c.191_196dupTGCCCG;HGVS_P=NP_003027.1:p.Pro65_Ala66insValPro;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-08-11 +1 2160421 . C T . . START=2160421;STOP=2160421;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=193249;RCV=RCV000204079|RCV000225703|RCV000242995;SCV=SCV000261590|SCV000224394|SCV000605120|SCV000250664|SCV000309360|SCV000319962;ALLELE_ID=190413;SYMBOL=SKI;HGVS_C=NM_003036.3:c.216C>T;HGVS_P=NP_003027.1:p.Pro72_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.216C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|uncertain_significance|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=4;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_05..2017;ALL_SUBMITTERS=Invitae|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Ambry_Genetics;SUBMITTERS_ORDERED=Invitae|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Ambry_Genetics;ALL_TRAITS=Shprintzen-Goldberg_syndrome|not_specified|NOT_SPECIFIED|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301454|28492532|25741868|20301299|24882528|25173340;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN169374|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2017-04-10|2015-06-08|2015-03-02|0000-00-00|2017-05-05|2015-08-08 1 2160444 . A AGCC . . START=2160454;STOP=2160456;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=264471;RCV=RCV000250462;SCV=SCV000320439;ALLELE_ID=257939;SYMBOL=SKI;HGVS_C=NM_003036.3:c.249_251dupGCC;HGVS_P=NP_003027.1:p.Pro84_Val85insPro;MOLECULAR_CONSEQUENCE=NM_003036.3:c.249_251dupGCC:inframe_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_10..2015;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301299|24882528|25173340;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2015-11-10 -1 2160453 . C T . . START=2160453;STOP=2160453;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409973;RCV=RCV000461038;SCV=SCV000550378;ALLELE_ID=391061;SYMBOL=SKI;HGVS_C=NM_003036.3:c.248C>T;HGVS_P=NP_003027.1:p.Pro83Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.248C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_08..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-06-08 +1 2160453 . C T . . START=2160453;STOP=2160453;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409973;RCV=RCV000461038;SCV=SCV000550378;ALLELE_ID=391061;SYMBOL=SKI;HGVS_C=NM_003036.3:c.248C>T;HGVS_P=NP_003027.1:p.Pro83Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.248C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_08..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-06-08 1 2160484 . GTCCGACCGC G . . START=2160488;STOP=2160496;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=37263;RCV=RCV000030821;SCV=SCV000053496|SCV000266526;ALLELE_ID=45853;SYMBOL=SKI;HGVS_C=NM_003036.3:c.283_291delGACCGCTCC;HGVS_P=NP_003027.1:p.Asp95_Ser97del;MOLECULAR_CONSEQUENCE=NM_003036.3:c.283_291delGACCGCTCC:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Nov_01..2012;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23023332;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2012-11-01|0000-00-00 1 2160484 . GTCCGACCGCTCC G . . START=2160485;STOP=2160496;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=39784;RCV=RCV000033006;SCV=SCV000056785;ALLELE_ID=48383;SYMBOL=SKI;HGVS_C=NM_003036.3:c.280_291delTCCGACCGCTCC;HGVS_P=NP_003027.1:p.Ser94_Ser97del;MOLECULAR_CONSEQUENCE=NM_003036.3:c.280_291delTCCGACCGCTCC:inframe_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Nov_02..2012;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23103230;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2012-11-02 -1 2160499 . C T . . START=2160499;STOP=2160499;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213681;RCV=RCV000198732|RCV000254475|RCV000467477;SCV=SCV000309361|SCV000319836|SCV000560924;ALLELE_ID=209446;SYMBOL=SKI;HGVS_C=NM_003036.3:c.294C>T;HGVS_P=NP_003027.1:p.Thr98_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.294C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_20..2017;ALL_SUBMITTERS=PreventionGenetics|Ambry_Genetics|Invitae..;SUBMITTERS_ORDERED=PreventionGenetics|Ambry_Genetics|Invitae..;ALL_TRAITS=not_specified|NOT_SPECIFIED|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301299|24882528|25173340|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=0000-00-00|2015-08-11|2017-01-20 +1 2160499 . C T . . START=2160499;STOP=2160499;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213681;RCV=RCV000198732|RCV000254475|RCV000467477;SCV=SCV000309361|SCV000319836|SCV000560924;ALLELE_ID=209446;SYMBOL=SKI;HGVS_C=NM_003036.3:c.294C>T;HGVS_P=NP_003027.1:p.Thr98_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.294C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2017;ALL_SUBMITTERS=PreventionGenetics|Ambry_Genetics|Invitae;SUBMITTERS_ORDERED=PreventionGenetics|Ambry_Genetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301299|24882528|25173340|20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=0000-00-00|2015-08-11|2017-06-14 1 2160516 . T C . . START=2160516;STOP=2160516;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=264417;RCV=RCV000246817;SCV=SCV000320341;ALLELE_ID=257941;SYMBOL=SKI;HGVS_C=NM_003036.3:c.311T>C;HGVS_P=NP_003027.1:p.Val104Ala;MOLECULAR_CONSEQUENCE=NM_003036.3:c.311T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_17..2015;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301299|24882528|25173340;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2015-09-17 -1 2160517 . A T . . START=2160517;STOP=2160517;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227947;RCV=RCV000215560;SCV=SCV000531770|SCV000270847;ALLELE_ID=228355;SYMBOL=SKI;HGVS_C=NM_003036.3:c.312A>T;HGVS_P=NP_003027.1:p.Val104_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.312A>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_21..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-08-11|2016-09-21 +1 2160517 . A T . . START=2160517;STOP=2160517;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227947;RCV=RCV000215560|RCV000543423;SCV=SCV000531770|SCV000270847|SCV000637299;ALLELE_ID=228355;SYMBOL=SKI;HGVS_C=NM_003036.3:c.312A>T;HGVS_P=NP_003027.1:p.Val104_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.312A>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=3;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_18..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=24033266|20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-08-11|2016-09-21|2017-04-18 1 2160547 . G T . . START=2160547;STOP=2160547;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390742;RCV=RCV000418308;SCV=SCV000533655;ALLELE_ID=364910;SYMBOL=SKI;HGVS_C=NM_003036.3:c.342G>T;HGVS_P=NP_003027.1:p.Val114_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.342G>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_16..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-16 1 2160552 . G A . . START=2160552;STOP=2160552;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=37258;RCV=RCV000030816;SCV=SCV000266519|SCV000053491;ALLELE_ID=45848;SYMBOL=SKI;HGVS_C=NM_003036.3:c.347G>A;HGVS_P=NP_003027.1:p.Gly116Glu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.347G>A:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Nov_01..2012;ALL_SUBMITTERS=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;SUBMITTERS_ORDERED=OMIM|Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University;ALL_TRAITS=Shprintzen-Goldberg_syndrome|SHPRINTZEN-GOLDBERG_CRANIOSYNOSTOSIS_SYNDROME;ALL_PMIDS=20301454|23023332;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2012-11-01|0000-00-00 -1 2160554 . G C . . START=2160554;STOP=2160554;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=224868;RCV=RCV000210472|RCV000498943;SCV=SCV000266521|SCV000589671;ALLELE_ID=226717;SYMBOL=SKI;HGVS_C=NM_003036.3:c.349G>C;HGVS_P=NP_003027.1:p.Gly117Arg;MOLECULAR_CONSEQUENCE=NM_003036.3:c.349G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_02..2017;ALL_SUBMITTERS=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|GeneDx;SUBMITTERS_ORDERED=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|GeneDx;ALL_TRAITS=Shprintzen-Goldberg_syndrome|not_provided|Not_Provided;ALL_PMIDS=20301454|23023332;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN221809;DATES_ORDERED=0000-00-00|2017-06-02 +1 2160554 . G C . . START=2160554;STOP=2160554;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=224868;RCV=RCV000210472|RCV000498943;SCV=SCV000266521|SCV000589671;ALLELE_ID=226717;SYMBOL=SKI;HGVS_C=NM_003036.3:c.349G>C;HGVS_P=NP_003027.1:p.Gly117Arg;MOLECULAR_CONSEQUENCE=NM_003036.3:c.349G>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic/Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic|likely_pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_02..2017;ALL_SUBMITTERS=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|GeneDx;SUBMITTERS_ORDERED=Baylor-Hopkins_Center_for_Mendelian_Genomics..Johns_Hopkins_University|GeneDx;ALL_TRAITS=Shprintzen-Goldberg_syndrome|not_provided|Not_Provided;ALL_PMIDS=20301454|23023332;ORIGIN=de_novo|germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN517202;DATES_ORDERED=0000-00-00|2017-06-02 1 2160557 . G A . . START=2160557;STOP=2160557;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=222819;RCV=RCV000208203;SCV=SCV000264224;ALLELE_ID=224190;SYMBOL=SKI;HGVS_C=NM_003036.3:c.352G>A;HGVS_P=NP_003027.1:p.Glu118Lys;MOLECULAR_CONSEQUENCE=NM_003036.3:c.352G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_22..2015;ALL_SUBMITTERS=Blueprint_Genetics;SUBMITTERS_ORDERED=Blueprint_Genetics;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-10-22 -1 2160565 . C T . . START=2160565;STOP=2160565;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213682;RCV=RCV000200253|RCV000461600;SCV=SCV000250666|SCV000605119|SCV000560926;ALLELE_ID=209448;SYMBOL=SKI;HGVS_C=NM_003036.3:c.360C>T;HGVS_P=NP_003027.1:p.Arg120_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.360C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_16..2017;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics|GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-05-06|2017-03-16|2016-12-08 +1 2160565 . C T . . START=2160565;STOP=2160565;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213682;RCV=RCV000200253|RCV000461600;SCV=SCV000250666|SCV000605119|SCV000560926;ALLELE_ID=209448;SYMBOL=SKI;HGVS_C=NM_003036.3:c.360C>T;HGVS_P=NP_003027.1:p.Arg120_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.360C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_03..2017;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics|GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-05-06|2017-03-16|2017-05-03 1 2160598 . G A . . START=2160598;STOP=2160598;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=264423;RCV=RCV000254423;SCV=SCV000320354;ALLELE_ID=257943;SYMBOL=SKI;HGVS_C=NM_003036.3:c.393G>A;HGVS_P=NP_003027.1:p.Leu131_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.393G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_04..2015;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301299|24882528|25173340;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2015-10-04 -1 2160622 . C T . . START=2160622;STOP=2160622;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213683;RCV=RCV000196335|RCV000234780;SCV=SCV000250667|SCV000309362|SCV000287840;ALLELE_ID=209449;SYMBOL=SKI;HGVS_C=NM_003036.3:c.417C>T;HGVS_P=NP_003027.1:p.Ile139_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.417C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_08..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|Invitae..;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-12-02|0000-00-00|2016-10-08 +1 2160604 . C T . . START=2160604;STOP=2160604;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463408;RCV=RCV000557967;SCV=SCV000637300;ALLELE_ID=447808;SYMBOL=SKI;HGVS_C=NM_003036.3:c.399C>T;HGVS_P=NP_003027.1:p.Asp133_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.399C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_07..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-06-07 +1 2160622 . C T . . START=2160622;STOP=2160622;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213683;RCV=RCV000196335|RCV000234780;SCV=SCV000250667|SCV000309362|SCV000287840;ALLELE_ID=209449;SYMBOL=SKI;HGVS_C=NM_003036.3:c.417C>T;HGVS_P=NP_003027.1:p.Ile139_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.417C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_27..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-12-02|0000-00-00|2017-06-27 1 2160640 . G GCTC . . START=2160641;STOP=2160642;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=440270;RCV=RCV000506250;SCV=SCV000605118;ALLELE_ID=433916;SYMBOL=SKI;HGVS_C=NM_003036.3:c.436_437insCTC;HGVS_P=NP_003027.1:p.Glu145_Leu146insPro;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_15..2017;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics;SUBMITTERS_ORDERED=ARUP_Laboratories..Molecular_Genetics_and_Genomics;ALL_TRAITS=not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-03-15 -1 2160661 . C T . . START=2160661;STOP=2160661;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139111;RCV=RCV000128045|RCV000228536|RCV000245385;SCV=SCV000171636|SCV000309363|SCV000287841|SCV000319402;ALLELE_ID=142814;SYMBOL=SKI;HGVS_C=NM_003036.3:c.456C>T;HGVS_P=NP_003027.1:p.Arg152_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.456C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=4;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_25..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Invitae..|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|Invitae..|Ambry_Genetics;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=25741868|20301454|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2014-05-19|0000-00-00|2017-01-25|2015-02-05 -1 2160669 . C G . . START=2160669;STOP=2160669;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373594;RCV=RCV000413541|RCV000461900;SCV=SCV000492202|SCV000550384;ALLELE_ID=359313;SYMBOL=SKI;HGVS_C=NM_003036.3:c.464C>G;HGVS_P=NP_003027.1:p.Ala155Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.464C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_29..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-11-29|2016-05-22 -1 2160676 . G A . . START=2160676;STOP=2160676;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=239478;RCV=RCV000232451|RCV000247169;SCV=SCV000287842|SCV000309364;ALLELE_ID=238211;SYMBOL=SKI;HGVS_C=NM_003036.3:c.471G>A;HGVS_P=NP_003027.1:p.Gln157_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.471G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_27..2016;ALL_SUBMITTERS=Invitae..|PreventionGenetics;SUBMITTERS_ORDERED=Invitae..|PreventionGenetics;ALL_TRAITS=Shprintzen-Goldberg_syndrome|not_specified|NOT_SPECIFIED;ALL_PMIDS=20301454|25741868;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN169374;DATES_ORDERED=2016-03-27|0000-00-00 -1 2160692 . G A . . START=2160692;STOP=2160692;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=239479;RCV=RCV000234052;SCV=SCV000287843;ALLELE_ID=238212;SYMBOL=SKI;HGVS_C=NM_003036.3:c.487G>A;HGVS_P=NP_003027.1:p.Val163Ile;MOLECULAR_CONSEQUENCE=NM_003036.3:c.487G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_12..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-01-12 +1 2160661 . C T . . START=2160661;STOP=2160661;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139111;RCV=RCV000128045|RCV000228536|RCV000245385;SCV=SCV000171636|SCV000309363|SCV000287841|SCV000319402;ALLELE_ID=142814;SYMBOL=SKI;HGVS_C=NM_003036.3:c.456C>T;HGVS_P=NP_003027.1:p.Arg152_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.456C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=4;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_26..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Invitae|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|Invitae|Ambry_Genetics;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=25741868|20301454|28492532|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2014-05-19|0000-00-00|2017-07-26|2015-02-05 +1 2160669 . C G . . START=2160669;STOP=2160669;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373594;RCV=RCV000413541|RCV000461900;SCV=SCV000492202|SCV000550384;ALLELE_ID=359313;SYMBOL=SKI;HGVS_C=NM_003036.3:c.464C>G;HGVS_P=NP_003027.1:p.Ala155Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.464C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_24..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-11-29|2017-04-24 +1 2160676 . G A . . START=2160676;STOP=2160676;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=239478;RCV=RCV000232451|RCV000247169;SCV=SCV000287842|SCV000309364;ALLELE_ID=238211;SYMBOL=SKI;HGVS_C=NM_003036.3:c.471G>A;HGVS_P=NP_003027.1:p.Gln157_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.471G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_27..2016;ALL_SUBMITTERS=Invitae|PreventionGenetics;SUBMITTERS_ORDERED=Invitae|PreventionGenetics;ALL_TRAITS=Shprintzen-Goldberg_syndrome|not_specified|NOT_SPECIFIED;ALL_PMIDS=20301454|25741868;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN169374;DATES_ORDERED=2016-03-27|0000-00-00 +1 2160692 . G A . . START=2160692;STOP=2160692;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=239479;RCV=RCV000234052;SCV=SCV000287843;ALLELE_ID=238212;SYMBOL=SKI;HGVS_C=NM_003036.3:c.487G>A;HGVS_P=NP_003027.1:p.Val163Ile;MOLECULAR_CONSEQUENCE=NM_003036.3:c.487G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_12..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-01-12 1 2160700 . C T . . START=2160700;STOP=2160700;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=258901;RCV=RCV000250311;SCV=SCV000309365;ALLELE_ID=249732;SYMBOL=SKI;HGVS_C=NM_003036.3:c.495C>T;HGVS_P=NP_003027.1:p.Gly165_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.495C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 2160704 . CT GG . . START=2160704;STOP=2160705;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213703;RCV=RCV000200337;SCV=SCV000250689;ALLELE_ID=209450;SYMBOL=SKI;HGVS_C=NM_003036.3:c.499_500delCTinsGG;HGVS_P=NP_003027.1:p.Leu167Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.499_500delCTinsGG:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-08-08 +1 2160704 . CT GG . . START=2160704;STOP=2160705;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213703;RCV=RCV000200337;SCV=SCV000250689;ALLELE_ID=209450;SYMBOL=SKI;HGVS_C=NM_003036.3:c.499_500delCTinsGG;HGVS_P=NP_003027.1:p.Leu167Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.499_500delCTinsGG:missense_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_08..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2016-08-08 +1 2160716 . G A . . START=2160716;STOP=2160716;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=450852;RCV=RCV000519513;SCV=SCV000619474;ALLELE_ID=442725;SYMBOL=SKI;HGVS_C=NM_003036.3:c.511G>A;HGVS_P=NP_003027.1:p.Ala171Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.511G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_25..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-07-25 1 2160744 . C T . . START=2160744;STOP=2160744;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213684;RCV=RCV000198523;SCV=SCV000250668;ALLELE_ID=209451;SYMBOL=SKI;HGVS_C=NM_003036.3:c.539C>T;HGVS_P=NP_003027.1:p.Thr180Met;MOLECULAR_CONSEQUENCE=NM_003036.3:c.539C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_07..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-07 1 2160830 . C A . . START=2160830;STOP=2160830;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=264172;RCV=RCV000242214;SCV=SCV000319905;ALLELE_ID=257942;SYMBOL=SKI;HGVS_C=NM_003036.3:c.625C>A;HGVS_P=NP_003027.1:p.Leu209Met;MOLECULAR_CONSEQUENCE=NM_003036.3:c.625C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_24..2015;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301299|24882528|25173340;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2015-07-24 -1 2160845 . A G . . START=2160845;STOP=2160845;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213685;RCV=RCV000200824;SCV=SCV000250669;ALLELE_ID=209452;SYMBOL=SKI;HGVS_C=NM_003036.3:c.640A>G;HGVS_P=NP_003027.1:p.Ser214Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.640A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-21 +1 2160845 . A G . . START=2160845;STOP=2160845;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213685;RCV=RCV000200824|RCV000551275;SCV=SCV000250669|SCV000637302;ALLELE_ID=209452;SYMBOL=SKI;HGVS_C=NM_003036.3:c.640A>G;HGVS_P=NP_003027.1:p.Ser214Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.640A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_08..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-07-21|2017-03-08 1 2160907 . C G . . START=2160907;STOP=2160907;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=388701;RCV=RCV000441081;SCV=SCV000531061;ALLELE_ID=364813;SYMBOL=SKI;HGVS_C=NM_003036.3:c.702C>G;HGVS_P=NP_003027.1:p.Pro234_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.702C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_17..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-08-17 1 2160931 . C T . . START=2160931;STOP=2160931;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=381375;RCV=RCV000438601;SCV=SCV000520593;ALLELE_ID=364674;SYMBOL=SKI;HGVS_C=NM_003036.3:c.726C>T;HGVS_P=NP_003027.1:p.Ala242_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.726C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_05..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-11-05 1 2160941 . C T . . START=2160941;STOP=2160941;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=424243;RCV=RCV000484316;SCV=SCV000574033;ALLELE_ID=405059;SYMBOL=SKI;HGVS_C=NM_003036.3:c.736C>T;HGVS_P=NP_003027.1:p.Gln246Ter;MOLECULAR_CONSEQUENCE=NM_003036.3:c.736C>T:nonsense;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_13..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-03-13 1 2160973 . G A . . START=2160973;STOP=2160973;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=381998;RCV=RCV000435128;SCV=SCV000521746;ALLELE_ID=364823;SYMBOL=SKI;HGVS_C=NM_003036.3:c.768G>A;HGVS_P=NP_003027.1:p.Pro256_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.768G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_02..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-12-02 -1 2161003 . C T . . START=2161003;STOP=2161003;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=193248;RCV=RCV000225717|RCV000243648|RCV000465929;SCV=SCV000250645|SCV000309366|SCV000224393|SCV000319450|SCV000560938;ALLELE_ID=190412;SYMBOL=SKI;HGVS_C=NM_003036.3:c.798C>T;HGVS_P=NP_003027.1:p.Ala266_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.798C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=2;BENIGN=2;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_13..2016;ALL_SUBMITTERS=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Ambry_Genetics|Invitae..;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|PreventionGenetics|Ambry_Genetics|Invitae..;ALL_TRAITS=not_specified|NOT_SPECIFIED|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301299|24882528|25173340|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-12-19|2014-09-04|0000-00-00|2015-03-06|2016-06-13 -1 2161004 . C T . . START=2161004;STOP=2161004;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213663;RCV=RCV000200723|RCV000228953;SCV=SCV000250646|SCV000287844;ALLELE_ID=209453;SYMBOL=SKI;HGVS_C=NM_003036.3:c.799C>T;HGVS_P=NP_003027.1:p.Leu267_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.799C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_26..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-05-18|2016-09-26 +1 2161003 . C T . . START=2161003;STOP=2161003;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=193248;RCV=RCV000225717|RCV000243648|RCV000465929;SCV=SCV000250645|SCV000309366|SCV000224393|SCV000319450|SCV000560938;ALLELE_ID=190412;SYMBOL=SKI;HGVS_C=NM_003036.3:c.798C>T;HGVS_P=NP_003027.1:p.Ala266_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.798C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=2;BENIGN=2;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_03..2017;ALL_SUBMITTERS=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Ambry_Genetics|Invitae;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|PreventionGenetics|Ambry_Genetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301299|24882528|25173340|20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-12-19|2014-09-04|0000-00-00|2015-03-06|2017-04-03 +1 2161004 . C T . . START=2161004;STOP=2161004;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213663;RCV=RCV000200723|RCV000228953;SCV=SCV000250646|SCV000287844;ALLELE_ID=209453;SYMBOL=SKI;HGVS_C=NM_003036.3:c.799C>T;HGVS_P=NP_003027.1:p.Leu267_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.799C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_02..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-05-18|2017-05-02 1 2161049 . C A . . START=2161049;STOP=2161049;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=264492;RCV=RCV000251439;SCV=SCV000320468;ALLELE_ID=257944;SYMBOL=SKI;HGVS_C=NM_003036.3:c.844C>A;HGVS_P=NP_003027.1:p.Arg282_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.844C>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_06..2015;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301299|24882528|25173340;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2015-11-06 1 2161050 . G A . . START=2161050;STOP=2161050;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=393089;RCV=RCV000421845;SCV=SCV000536449;ALLELE_ID=364679;SYMBOL=SKI;HGVS_C=NM_003036.3:c.845G>A;HGVS_P=NP_003027.1:p.Arg282Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.845G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_20..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-20 1 2161098 . C G . . START=2161098;STOP=2161098;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=436729;RCV=RCV000502689;SCV=SCV000597059;ALLELE_ID=427715;SYMBOL=SKI;HGVS_C=NM_003036.3:c.893C>G;HGVS_P=NP_003027.1:p.Ala298Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.893C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_24..2016;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-06-24 -1 2161102 . C T . . START=2161102;STOP=2161102;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=380753;RCV=RCV000417582|RCV000458602;SCV=SCV000519151|SCV000560931;ALLELE_ID=364819;SYMBOL=SKI;HGVS_C=NM_003036.3:c.897C>T;HGVS_P=NP_003027.1:p.Arg299_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.897C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_14..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-12-14|2016-04-18 +1 2161102 . C T . . START=2161102;STOP=2161102;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=380753;RCV=RCV000417582|RCV000458602;SCV=SCV000519151|SCV000560931;ALLELE_ID=364819;SYMBOL=SKI;HGVS_C=NM_003036.3:c.897C>T;HGVS_P=NP_003027.1:p.Arg299_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.897C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_14..2016;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-12-14|2016-04-18 1 2161111 . C T . . START=2161111;STOP=2161111;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=389154;RCV=RCV000442843;SCV=SCV000531605;ALLELE_ID=364915;SYMBOL=SKI;HGVS_C=NM_003036.3:c.906C>T;HGVS_P=NP_003027.1:p.Arg302_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.906C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_07..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-07 1 2161124 . G A . . START=2161124;STOP=2161124;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213686;RCV=RCV000196881;SCV=SCV000250670;ALLELE_ID=209454;SYMBOL=SKI;HGVS_C=NM_003036.3:c.919G>A;HGVS_P=NP_003027.1:p.Val307Met;MOLECULAR_CONSEQUENCE=NM_003036.3:c.919G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_17..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-17 1 2161143 . A G . . START=2161143;STOP=2161143;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213687;RCV=RCV000199076;SCV=SCV000250671;ALLELE_ID=209455;SYMBOL=SKI;HGVS_C=NM_003036.3:c.938A>G;HGVS_P=NP_003027.1:p.Tyr313Cys;MOLECULAR_CONSEQUENCE=NM_003036.3:c.938A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_02..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-02 -1 2161153 . G A . . START=2161153;STOP=2161153;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213664;RCV=RCV000196098|RCV000231718;SCV=SCV000250647|SCV000287845;ALLELE_ID=209456;SYMBOL=SKI;HGVS_C=NM_003036.3:c.948G>A;HGVS_P=NP_003027.1:p.Lys316_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.948G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_01..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-08-02|2016-07-01 +1 2161153 . G A . . START=2161153;STOP=2161153;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213664;RCV=RCV000196098|RCV000231718;SCV=SCV000250647|SCV000287845;ALLELE_ID=209456;SYMBOL=SKI;HGVS_C=NM_003036.3:c.948G>A;HGVS_P=NP_003027.1:p.Lys316_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.948G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_01..2016;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-08-02|2016-07-01 1 2161169 . C T . . START=2161169;STOP=2161169;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=264199;RCV=RCV000252076;SCV=SCV000319953;ALLELE_ID=257945;SYMBOL=SKI;HGVS_C=NM_003036.3:c.964C>T;HGVS_P=NP_003027.1:p.Pro322Ser;MOLECULAR_CONSEQUENCE=NM_003036.3:c.964C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_14..2015;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301299|24882528|25173340;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2015-08-14 1 2234410 . A G . . START=2234410;STOP=2234410;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=289941;RCV=RCV000284270;SCV=SCV000344401|SCV000531468;ALLELE_ID=274178;SYMBOL=SKI;HGVS_C=NM_003036.3:c.970-7A>G;MOLECULAR_CONSEQUENCE=NM_003036.3:c.970-7A>G:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_02..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx;ALL_TRAITS=not_specified|not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-08-26|2016-09-02 -1 2234447 . C T . . START=2234447;STOP=2234447;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213688;RCV=RCV000198950;SCV=SCV000250674;ALLELE_ID=209457;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1000C>T;HGVS_P=NP_003027.1:p.Pro334Ser;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1000C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_29..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-05-29 +1 2234447 . C T . . START=2234447;STOP=2234447;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213688;RCV=RCV000198950|RCV000539809;SCV=SCV000250674|SCV000637270;ALLELE_ID=209457;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1000C>T;HGVS_P=NP_003027.1:p.Pro334Ser;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1000C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_27..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-05-29|2017-03-27 1 2234452 . A G . . START=2234452;STOP=2234452;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392801;RCV=RCV000420643;SCV=SCV000536128;ALLELE_ID=364935;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1005A>G;HGVS_P=NP_003027.1:p.Lys335_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1005A>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_17..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-17 -1 2234480 . G A . . START=2234480;STOP=2234480;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213666;RCV=RCV000200606|RCV000474882;SCV=SCV000250649|SCV000550374;ALLELE_ID=209458;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1033G>A;HGVS_P=NP_003027.1:p.Ala345Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1033G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_28..2017;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-06-28|2016-11-18 +1 2234480 . G A . . START=2234480;STOP=2234480;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213666;RCV=RCV000200606|RCV000474882;SCV=SCV000250649|SCV000550374;ALLELE_ID=209458;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1033G>A;HGVS_P=NP_003027.1:p.Ala345Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1033G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_28..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-06-28|2017-04-12 1 2234484 . CT C . . START=2234486;STOP=2234486;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432707;RCV=RCV000498739;SCV=SCV000590461;ALLELE_ID=425341;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1039delT;HGVS_P=NP_003027.1:p.Ser347Profs;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1039delT:frameshift_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_12..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-12 1 2234488 . C T . . START=2234488;STOP=2234488;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=384269;RCV=RCV000417667;SCV=SCV000524999;ALLELE_ID=364878;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1041C>T;HGVS_P=NP_003027.1:p.Ser347_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1041C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_26..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-02-26 1 2234515 . G A . . START=2234515;STOP=2234515;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=389348;RCV=RCV000436780;SCV=SCV000531839;ALLELE_ID=364937;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1068G>A;HGVS_P=NP_003027.1:p.Leu356_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1068G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_13..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-13 -1 2234517 . G A . . START=2234517;STOP=2234517;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213689;RCV=RCV000195711;SCV=SCV000250675;ALLELE_ID=209459;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1070G>A;HGVS_P=NP_003027.1:p.Arg357Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1070G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_24..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-05-24 +1 2234516 . C T . . START=2234516;STOP=2234516;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463392;RCV=RCV000532859;SCV=SCV000637272;ALLELE_ID=447787;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1069C>T;HGVS_P=NP_003027.1:p.Arg357Trp;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1069C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_30..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-05-30 +1 2234517 . G A . . START=2234517;STOP=2234517;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213689;RCV=RCV000195711|RCV000542904;SCV=SCV000250675|SCV000637273;ALLELE_ID=209459;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1070G>A;HGVS_P=NP_003027.1:p.Arg357Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1070G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_24..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-05-24|2017-03-26 1 2234528 . G A . . START=2234528;STOP=2234528;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=222820;RCV=RCV000208423;SCV=SCV000264225;ALLELE_ID=224191;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1081G>A;HGVS_P=NP_003027.1:p.Gly361Ser;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1081G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_01..2015;ALL_SUBMITTERS=Blueprint_Genetics;SUBMITTERS_ORDERED=Blueprint_Genetics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-01 1 2234718 . C T . . START=2234718;STOP=2234718;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390923;RCV=RCV000443858;SCV=SCV000533875;ALLELE_ID=364886;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1096-6C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1096-6C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_28..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-28 -1 2234745 . C T . . START=2234745;STOP=2234745;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409970;RCV=RCV000465525;SCV=SCV000550373;ALLELE_ID=391067;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1117C>T;HGVS_P=NP_003027.1:p.Arg373Cys;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1117C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_16..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-10-16 -1 2234752 . G A . . START=2234752;STOP=2234752;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=444150;RCV=RCV000513628;SCV=SCV000608451;ALLELE_ID=437790;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1124G>A;HGVS_P=NP_003027.1:p.Arg375His;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1124G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_30..2017;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen..;SUBMITTERS_ORDERED=Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2017-06-30 +1 2234726 . C G . . START=2234726;STOP=2234726;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=451982;RCV=RCV000522318;SCV=SCV000620752;ALLELE_ID=442734;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1098C>G;HGVS_P=NP_003027.1:p.Ser366Arg;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1098C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_22..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-09-22 +1 2234737 . T C . . START=2234737;STOP=2234737;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=449711;RCV=RCV000522336;SCV=SCV000618067;ALLELE_ID=442735;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1109T>C;HGVS_P=NP_003027.1:p.Val370Ala;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1109T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-10-26 +1 2234745 . C T . . START=2234745;STOP=2234745;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409970;RCV=RCV000465525;SCV=SCV000550373;ALLELE_ID=391067;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1117C>T;HGVS_P=NP_003027.1:p.Arg373Cys;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1117C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_16..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-10-16 +1 2234752 . G A . . START=2234752;STOP=2234752;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=444150;RCV=RCV000513628;SCV=SCV000608451;ALLELE_ID=437790;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1124G>A;HGVS_P=NP_003027.1:p.Arg375His;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1124G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_30..2017;ALL_SUBMITTERS=Praxis_fuer_Humangenetik_Tuebingen;SUBMITTERS_ORDERED=Praxis_fuer_Humangenetik_Tuebingen;ALL_TRAITS=not_provided;ORIGIN=germline;XREFS=MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2017-06-30 1 2234767 . G A . . START=2234767;STOP=2234767;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213690;RCV=RCV000197996;SCV=SCV000250676;ALLELE_ID=209461;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1139G>A;HGVS_P=NP_003027.1:p.Arg380Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1139G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_16..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-06-16 1 2234790 . G A . . START=2234790;STOP=2234790;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213667;RCV=RCV000197343;SCV=SCV000250650;ALLELE_ID=209462;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1162G>A;HGVS_P=NP_003027.1:p.Ala388Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1162G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_29..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-12-29 -1 2234791 . C T . . START=2234791;STOP=2234791;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213668;RCV=RCV000198871|RCV000204037|RCV000436746;SCV=SCV000605116|SCV000250651|SCV000309348|SCV000261993|SCV000511006;ALLELE_ID=209463;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1163C>T;HGVS_P=NP_003027.1:p.Ala388Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1163C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=4;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_26..2017;ALL_SUBMITTERS=PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|GeneDx|Invitae..|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Invitae..|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|not_provided;ALL_PMIDS=25741868|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN221809;DATES_ORDERED=2016-08-19|0000-00-00|2016-05-08|2016-12-29|2017-01-26-06:00 -1 2234792 . G A . . START=2234792;STOP=2234792;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415896;RCV=RCV000463122;SCV=SCV000560929;ALLELE_ID=391070;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1164G>A;HGVS_P=NP_003027.1:p.Ala388_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1164G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_13..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-06-13 +1 2234791 . C T . . START=2234791;STOP=2234791;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213668;RCV=RCV000198871|RCV000204037|RCV000436746;SCV=SCV000605116|SCV000250651|SCV000309348|SCV000261993|SCV000511006;ALLELE_ID=209463;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1163C>T;HGVS_P=NP_003027.1:p.Ala388Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1163C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=4;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_20..2017;ALL_SUBMITTERS=PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|GeneDx|Invitae|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Invitae|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|not_provided;ALL_PMIDS=25741868|20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN517202;DATES_ORDERED=2016-08-19|0000-00-00|2016-05-08|2017-07-20|2017-01-26 +1 2234792 . G A . . START=2234792;STOP=2234792;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415896;RCV=RCV000463122;SCV=SCV000560929;ALLELE_ID=391070;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1164G>A;HGVS_P=NP_003027.1:p.Ala388_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1164G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_13..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-06-13 1 2234811 . C T . . START=2234811;STOP=2234811;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213691;RCV=RCV000198841;SCV=SCV000250677;ALLELE_ID=209464;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1183C>T;HGVS_P=NP_003027.1:p.Pro395Ser;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1183C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_02..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-02 1 2234816 . C T . . START=2234816;STOP=2234816;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392508;RCV=RCV000422024;SCV=SCV000535788;ALLELE_ID=364903;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1188C>T;HGVS_P=NP_003027.1:p.His396_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1188C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_11..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-11 -1 2234824 . C T . . START=2234824;STOP=2234824;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213692;RCV=RCV000195594|RCV000227742;SCV=SCV000309349|SCV000250678|SCV000287832;ALLELE_ID=209465;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1196C>T;HGVS_P=NP_003027.1:p.Ala399Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1196C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_04..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|Invitae..;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-08-24|0000-00-00|2016-05-05 +1 2234817 . C T . . START=2234817;STOP=2234817;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463394;RCV=RCV000531370;SCV=SCV000637275;ALLELE_ID=447833;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1189C>T;HGVS_P=NP_003027.1:p.Leu397Phe;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1189C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-06-01 +1 2234824 . C T . . START=2234824;STOP=2234824;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213692;RCV=RCV000195594|RCV000227742|RCV000514089;SCV=SCV000309349|SCV000250678|SCV000678208|SCV000287832|SCV000609855;ALLELE_ID=209465;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1196C>T;HGVS_P=NP_003027.1:p.Ala399Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1196C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=3;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_01..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Center_for_Genomics..Ann_and_Robert_H._Lurie_Children's_Hospital_of_Chicago|Invitae|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|Invitae|Center_for_Genomics..Ann_and_Robert_H._Lurie_Children's_Hospital_of_Chicago|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|not_provided;ALL_PMIDS=25741868|20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN517202;DATES_ORDERED=2016-08-24|0000-00-00|2017-06-29|2017-08-01|2017-05-04 1 2234825 . C A . . START=2234825;STOP=2234825;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=386213;RCV=RCV000438909;SCV=SCV000527766;ALLELE_ID=364718;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1197C>A;HGVS_P=NP_003027.1:p.Ala399_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1197C>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_18..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-05-18 -1 2234833 . G A . . START=2234833;STOP=2234833;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409972;RCV=RCV000466620;SCV=SCV000550376;ALLELE_ID=390988;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1205G>A;HGVS_P=NP_003027.1:p.Arg402Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1205G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_03..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-08-03 -1 2234849 . C T . . START=2234849;STOP=2234849;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213669;RCV=RCV000200400|RCV000470601;SCV=SCV000250652|SCV000560930;ALLELE_ID=209466;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1211+10C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1211+10C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_05..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-02-04|2016-09-05 +1 2234833 . G A . . START=2234833;STOP=2234833;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409972;RCV=RCV000466620;SCV=SCV000550376;ALLELE_ID=390988;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1205G>A;HGVS_P=NP_003027.1:p.Arg402Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1205G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_03..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-08-03 +1 2234849 . C T . . START=2234849;STOP=2234849;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213669;RCV=RCV000200400|RCV000470601;SCV=SCV000250652|SCV000560930;ALLELE_ID=209466;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1211+10C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1211+10C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_03..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-02-04|2017-03-03 1 2234850 . G A . . START=2234850;STOP=2234850;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213670;RCV=RCV000197227;SCV=SCV000250653;ALLELE_ID=209467;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1211+11G>A;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1211+11G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_08..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-08-08 1 2234856 . C T . . START=2234856;STOP=2234856;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=258899;RCV=RCV000248676;SCV=SCV000309350;ALLELE_ID=249763;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1211+17C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1211+17C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=PreventionGenetics;SUBMITTERS_ORDERED=PreventionGenetics;ALL_TRAITS=not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00 -1 2234858 . C T . . START=2234858;STOP=2234858;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=258900;RCV=RCV000251824;SCV=SCV000309351|SCV000514629;ALLELE_ID=249764;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1211+19C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1211+19C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Dec_06..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2016-12-06 -1 2235271 . C T . . START=2235271;STOP=2235271;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213671;RCV=RCV000199440|RCV000415889;SCV=SCV000309352|SCV000250654|SCV000493144;ALLELE_ID=209468;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1212-8C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1212-8C>T:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_31..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Praxis_fuer_Humangenetik_Tuebingen..;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|Praxis_fuer_Humangenetik_Tuebingen..;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN221809|MedGen:CN517202;DATES_ORDERED=2015-04-15|0000-00-00|2016-08-31 +1 2234858 . C T . . START=2234858;STOP=2234858;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=258900;RCV=RCV000251824;SCV=SCV000309351|SCV000514629;ALLELE_ID=249764;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1211+19C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1211+19C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Jul_08..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx;SUBMITTERS_ORDERED=PreventionGenetics|GeneDx;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=0000-00-00|2017-07-08 +1 2235271 . C T . . START=2235271;STOP=2235271;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213671;RCV=RCV000199440|RCV000415889|RCV000546304;SCV=SCV000309352|SCV000250654|SCV000493144|SCV000637276;ALLELE_ID=209468;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1212-8C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1212-8C>T:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_15..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Praxis_fuer_Humangenetik_Tuebingen|Invitae;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|Praxis_fuer_Humangenetik_Tuebingen|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|not_provided|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:CN221809|MedGen:CN517202|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-04-15|0000-00-00|2016-08-31|2017-05-15 1 2235310 . G A . . START=2235310;STOP=2235310;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=222821;RCV=RCV000208100;SCV=SCV000264226;ALLELE_ID=224192;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1243G>A;HGVS_P=NP_003027.1:p.Val415Met;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1243G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_01..2015;ALL_SUBMITTERS=Blueprint_Genetics;SUBMITTERS_ORDERED=Blueprint_Genetics;ALL_TRAITS=Marfanoid_habitus;ORIGIN=germline;XREFS=MedGen:C1839796;DATES_ORDERED=2015-04-01 1 2235314 . C T . . START=2235314;STOP=2235314;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213693;RCV=RCV000197794;SCV=SCV000250679;ALLELE_ID=209469;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1247C>T;HGVS_P=NP_003027.1:p.Ala416Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1247C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_02..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-05-02 -1 2235321 . C T . . START=2235321;STOP=2235321;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392009;RCV=RCV000441456;SCV=SCV000535200;ALLELE_ID=364908;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1254C>T;HGVS_P=NP_003027.1:p.Asn418_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1254C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-21 -1 2235325 . G A . . START=2235325;STOP=2235325;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=220793;RCV=RCV000205977|RCV000507645;SCV=SCV000261638|SCV000605111;ALLELE_ID=221089;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1258G>A;HGVS_P=NP_003027.1:p.Ala420Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1258G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_13..2016;ALL_SUBMITTERS=Invitae..|ARUP_Laboratories..Molecular_Genetics_and_Genomics;SUBMITTERS_ORDERED=Invitae..|ARUP_Laboratories..Molecular_Genetics_and_Genomics;ALL_TRAITS=Shprintzen-Goldberg_syndrome|not_specified;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN169374;DATES_ORDERED=2015-10-28|2016-09-13 +1 2235321 . C T . . START=2235321;STOP=2235321;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392009;RCV=RCV000441456|RCV000558563;SCV=SCV000535200|SCV000637277;ALLELE_ID=364908;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1254C>T;HGVS_P=NP_003027.1:p.Asn418_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1254C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_20..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-12-21|2017-01-20 +1 2235325 . G A . . START=2235325;STOP=2235325;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=220793;RCV=RCV000205977|RCV000507645;SCV=SCV000261638|SCV000605111;ALLELE_ID=221089;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1258G>A;HGVS_P=NP_003027.1:p.Ala420Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1258G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_28..2017;ALL_SUBMITTERS=Invitae|ARUP_Laboratories..Molecular_Genetics_and_Genomics;SUBMITTERS_ORDERED=Invitae|ARUP_Laboratories..Molecular_Genetics_and_Genomics;ALL_TRAITS=Shprintzen-Goldberg_syndrome|not_specified;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN169374;DATES_ORDERED=2017-03-28|2016-09-13 1 2235330 . C T . . START=2235330;STOP=2235330;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263904;RCV=RCV000252813;SCV=SCV000319412;ALLELE_ID=257947;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1263C>T;HGVS_P=NP_003027.1:p.Leu421_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1263C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2015;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301299|24882528|25173340;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2015-02-04 -1 2235331 . G A . . START=2235331;STOP=2235331;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213707;RCV=RCV000196970;SCV=SCV000250693;ALLELE_ID=209470;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1264G>A;HGVS_P=NP_003027.1:p.Ala422Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1264G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_20..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-10-20 +1 2235331 . G A . . START=2235331;STOP=2235331;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213707;RCV=RCV000196970;SCV=SCV000250693;ALLELE_ID=209470;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1264G>A;HGVS_P=NP_003027.1:p.Ala422Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1264G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-08-11 1 2235336 . G A . . START=2235336;STOP=2235336;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=387432;RCV=RCV000431107;SCV=SCV000529477;ALLELE_ID=364724;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1269G>A;HGVS_P=NP_003027.1:p.Pro423_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1269G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_12..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-12 -1 2235338 . C T . . START=2235338;STOP=2235338;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=423663;RCV=RCV000486959;SCV=SCV000573384;ALLELE_ID=405082;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1271C>T;HGVS_P=NP_003027.1:p.Pro424Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1271C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_23..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-23 +1 2235338 . C T . . START=2235338;STOP=2235338;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=423663;RCV=RCV000486959|RCV000537023;SCV=SCV000573384|SCV000637278;ALLELE_ID=405082;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1271C>T;HGVS_P=NP_003027.1:p.Pro424Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1271C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_13..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-02-23|2017-03-13 +1 2235361 . A G . . START=2235361;STOP=2235361;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=449989;RCV=RCV000521311;SCV=SCV000618510;ALLELE_ID=442736;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1294A>G;HGVS_P=NP_003027.1:p.Ser432Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1294A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-01 1 2235368 . C T . . START=2235368;STOP=2235368;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213694;RCV=RCV000200090;SCV=SCV000250680;ALLELE_ID=209471;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1301C>T;HGVS_P=NP_003027.1:p.Pro434Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1301C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_09..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-09 -1 2235376 . G A . . START=2235376;STOP=2235376;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263895;RCV=RCV000251995|RCV000474123;SCV=SCV000319389|SCV000550377;ALLELE_ID=257946;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1309G>A;HGVS_P=NP_003027.1:p.Ala437Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1309G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_11..2016;ALL_SUBMITTERS=Ambry_Genetics|Invitae..;SUBMITTERS_ORDERED=Ambry_Genetics|Invitae..;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301299|24882528|25173340|20301454;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-10-29|2016-12-11 -1 2235378 . C G . . START=2235378;STOP=2235378;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227946;RCV=RCV000221218|RCV000462719;SCV=SCV000514630|SCV000270846|SCV000560932;ALLELE_ID=228357;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1311C>G;HGVS_P=NP_003027.1:p.Ala437_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1311C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_09..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=24033266|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-08-11|2016-09-21|2016-10-09 -1 2235378 . C T . . START=2235378;STOP=2235378;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139114;RCV=RCV000128048|RCV000229389|RCV000249261;SCV=SCV000309353|SCV000605110|SCV000171639|SCV000336133|SCV000287833|SCV000319411;ALLELE_ID=142817;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1311C>T;HGVS_P=NP_003027.1:p.Ala437_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1311C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=6;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_10..2017;ALL_SUBMITTERS=PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Invitae..|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Invitae..|Ambry_Genetics;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=25741868|20301454|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2014-05-27|0000-00-00|2015-10-14|2016-01-06|2017-01-10|2015-02-06 -1 2235382 . G A . . START=2235382;STOP=2235382;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409971;RCV=RCV000457275;SCV=SCV000550375;ALLELE_ID=391083;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1315G>A;HGVS_P=NP_003027.1:p.Val439Ile;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1315G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_08..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-10-08 +1 2235376 . G A . . START=2235376;STOP=2235376;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=263895;RCV=RCV000251995|RCV000474123|RCV000520591;SCV=SCV000319389|SCV000550377|SCV000620001;ALLELE_ID=257946;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1309G>A;HGVS_P=NP_003027.1:p.Ala437Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1309G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=3;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2017;ALL_SUBMITTERS=Ambry_Genetics|Invitae|GeneDx;SUBMITTERS_ORDERED=Ambry_Genetics|Invitae|GeneDx;ALL_TRAITS=Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections|Shprintzen-Goldberg_syndrome|not_specified;ALL_PMIDS=20301299|24882528|25173340|20301454|28492532;ORIGIN=germline;XREFS=CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|MedGen:CN169374;DATES_ORDERED=2015-10-29|2017-02-17|2017-08-11 +1 2235378 . C G . . START=2235378;STOP=2235378;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227946;RCV=RCV000221218|RCV000462719;SCV=SCV000514630|SCV000270846|SCV000560932;ALLELE_ID=228357;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1311C>G;HGVS_P=NP_003027.1:p.Ala437_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1311C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_15..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae;ALL_TRAITS=not_specified|Not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=24033266|20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-08-11|2017-08-15|2017-05-30 +1 2235378 . C T . . START=2235378;STOP=2235378;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139114;RCV=RCV000128048|RCV000229389|RCV000249261;SCV=SCV000309353|SCV000605110|SCV000171639|SCV000336133|SCV000287833|SCV000319411;ALLELE_ID=142817;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1311C>T;HGVS_P=NP_003027.1:p.Ala437_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1311C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=6;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_26..2017;ALL_SUBMITTERS=PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Invitae|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Invitae|Ambry_Genetics;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=25741868|20301454|28492532|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2014-05-27|0000-00-00|2015-10-14|2016-01-06|2017-07-26|2015-02-06 +1 2235382 . G A . . START=2235382;STOP=2235382;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409971;RCV=RCV000457275;SCV=SCV000550375;ALLELE_ID=391083;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1315G>A;HGVS_P=NP_003027.1:p.Val439Ile;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1315G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_08..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-10-08 1 2235396 . C T . . START=2235396;STOP=2235396;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=385791;RCV=RCV000429448;SCV=SCV000527181;ALLELE_ID=364938;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1329C>T;HGVS_P=NP_003027.1:p.Pro443_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1329C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_29..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-04-29 1 2235405 . C T . . START=2235405;STOP=2235405;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213672;RCV=RCV000195511;SCV=SCV000250655;ALLELE_ID=209472;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1338C>T;HGVS_P=NP_003027.1:p.Leu446_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1338C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_18..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-06-18 -1 2235451 . C G . . START=2235451;STOP=2235451;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409974;RCV=RCV000467693;SCV=SCV000550379;ALLELE_ID=390989;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1384C>G;HGVS_P=NP_003027.1:p.Pro462Ala;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1384C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_01..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-04-01 -1 2235477 . C T . . START=2235477;STOP=2235477;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213673;RCV=RCV000197717|RCV000458443;SCV=SCV000250656|SCV000560937;ALLELE_ID=209473;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1410C>T;HGVS_P=NP_003027.1:p.Pro470_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1410C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_13..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-06-22|2016-11-13 +1 2235451 . C G . . START=2235451;STOP=2235451;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409974;RCV=RCV000467693;SCV=SCV000550379;ALLELE_ID=390989;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1384C>G;HGVS_P=NP_003027.1:p.Pro462Ala;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1384C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_14..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-07-14 +1 2235477 . C T . . START=2235477;STOP=2235477;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213673;RCV=RCV000197717|RCV000458443;SCV=SCV000250656|SCV000560937;ALLELE_ID=209473;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1410C>T;HGVS_P=NP_003027.1:p.Pro470_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1410C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_31..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-06-22|2017-07-31 1 2235487 . C G . . START=2235487;STOP=2235487;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373583;RCV=RCV000413715;SCV=SCV000492188;ALLELE_ID=359238;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1420C>G;HGVS_P=NP_003027.1:p.Pro474Ala;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1420C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_06..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-06 -1 2235513 . G A . . START=2235513;STOP=2235513;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139115;RCV=RCV000178187|RCV000233299|RCV000249175;SCV=SCV000171640|SCV000605115|SCV000309354|SCV000230202|SCV000287834|SCV000319431;ALLELE_ID=142818;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1446G>A;HGVS_P=NP_003027.1:p.Ala482_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1446G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=5;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_25..2017;ALL_SUBMITTERS=PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Invitae..|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Invitae..|Ambry_Genetics;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=25741868|20301454|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2014-05-29|2015-01-13|0000-00-00|2016-01-08|2017-01-25|2015-02-16 -1 2235523 . G A . . START=2235523;STOP=2235523;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229252;RCV=RCV000218491;SCV=SCV000272435;ALLELE_ID=228358;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1456G>A;HGVS_P=NP_003027.1:p.Val486Ile;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1456G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-08-11 -1 2235737 . T A . . START=2235737;STOP=2235737;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373745;RCV=RCV000414146|RCV000460773;SCV=SCV000492366|SCV000550381;ALLELE_ID=359326;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1480T>A;HGVS_P=NP_003027.1:p.Ser494Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1480T>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_12..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-12-12|2016-08-18 -1 2235762 . C T . . START=2235762;STOP=2235762;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=377202;RCV=RCV000442707;SCV=SCV000511479;ALLELE_ID=364080;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1505C>T;HGVS_P=NP_003027.1:p.Pro502Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1505C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_21..2016;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-11-21-06:00 -1 2235784 . C T . . START=2235784;STOP=2235784;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213674;RCV=RCV000199331|RCV000245139;SCV=SCV000605117|SCV000250657|SCV000269828|SCV000319439;ALLELE_ID=209474;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1527C>T;HGVS_P=NP_003027.1:p.Ser509_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1527C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_19..2016;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Ambry_Genetics;ALL_TRAITS=not_specified|Not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=24033266|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2014-09-11|2015-02-20|2016-12-19|2015-02-24 +1 2235488 . C T . . START=2235488;STOP=2235488;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=451213;RCV=RCV000521240;SCV=SCV000619881;ALLELE_ID=442737;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1421C>T;HGVS_P=NP_003027.1:p.Pro474Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1421C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_08..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-08-08 +1 2235512 . C T . . START=2235512;STOP=2235512;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=451641;RCV=RCV000519637;SCV=SCV000620364;ALLELE_ID=442738;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1445C>T;HGVS_P=NP_003027.1:p.Ala482Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1445C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_29..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-08-29 +1 2235512 . CG C . . START=2235514;STOP=2235514;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=450070;RCV=RCV000520789;SCV=SCV000618607;ALLELE_ID=442739;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1447delG;HGVS_P=NP_003027.1:p.Glu483Argfs;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1447delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_27..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-27 +1 2235513 . G A . . START=2235513;STOP=2235513;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139115;RCV=RCV000178187|RCV000233299|RCV000249175;SCV=SCV000171640|SCV000605115|SCV000309354|SCV000230202|SCV000287834|SCV000319431;ALLELE_ID=142818;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1446G>A;HGVS_P=NP_003027.1:p.Ala482_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1446G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=6;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_03..2017;ALL_SUBMITTERS=PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Invitae|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|PreventionGenetics|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Invitae|Ambry_Genetics;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=25741868|20301454|28492532|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2014-05-29|2015-01-13|0000-00-00|2016-01-08|2017-08-03|2016-12-15 +1 2235523 . G A . . START=2235523;STOP=2235523;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229252;RCV=RCV000218491|RCV000535528;SCV=SCV000272435|SCV000637281;ALLELE_ID=228358;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1456G>A;HGVS_P=NP_003027.1:p.Val486Ile;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1456G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_18..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|Not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=24033266|20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-08-11|2017-04-18 +1 2235737 . T A . . START=2235737;STOP=2235737;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373745;RCV=RCV000414146|RCV000460773;SCV=SCV000492366|SCV000550381;ALLELE_ID=359326;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1480T>A;HGVS_P=NP_003027.1:p.Ser494Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1480T>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_12..2016;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-12-12|2016-08-18 +1 2235762 . C T . . START=2235762;STOP=2235762;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=377202;RCV=RCV000442707;SCV=SCV000511479;ALLELE_ID=364080;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1505C>T;HGVS_P=NP_003027.1:p.Pro502Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1505C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_21..2016;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2016-11-21 +1 2235784 . C T . . START=2235784;STOP=2235784;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213674;RCV=RCV000199331|RCV000245139|RCV000550404;SCV=SCV000605117|SCV000250657|SCV000269828|SCV000319439|SCV000637282;ALLELE_ID=209474;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1527C>T;HGVS_P=NP_003027.1:p.Ser509_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1527C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=4;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_03..2017;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Ambry_Genetics|Invitae;SUBMITTERS_ORDERED=GeneDx|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|ARUP_Laboratories..Molecular_Genetics_and_Genomics|Ambry_Genetics|Invitae;ALL_TRAITS=not_specified|Not_specified|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections|Shprintzen-Goldberg_syndrome;ALL_PMIDS=24033266|19112531|20301299|24882528|25173340|20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-09-11|2015-02-20|2016-12-19|2015-02-24|2017-04-03 1 2235785 . G A . . START=2235785;STOP=2235785;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213695;RCV=RCV000195482;SCV=SCV000250681;ALLELE_ID=209475;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1528G>A;HGVS_P=NP_003027.1:p.Ala510Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1528G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_26..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-26 +1 2235805 . G A . . START=2235805;STOP=2235805;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463396;RCV=RCV000528551;SCV=SCV000637283;ALLELE_ID=447788;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1548G>A;HGVS_P=NP_003027.1:p.Pro516_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1548G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_26..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-05-26 1 2235812 . C T . . START=2235812;STOP=2235812;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213696;RCV=RCV000197672;SCV=SCV000250682;ALLELE_ID=209476;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1555C>T;HGVS_P=NP_003027.1:p.Arg519Cys;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1555C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_11..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-09-11 1 2235813 . G A . . START=2235813;STOP=2235813;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213675;RCV=RCV000196080;SCV=SCV000250658;ALLELE_ID=209477;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1556G>A;HGVS_P=NP_003027.1:p.Arg519His;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1556G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_04..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-12-04 -1 2235825 . C T . . START=2235825;STOP=2235825;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=180522;RCV=RCV000157499;SCV=SCV000207244;ALLELE_ID=178441;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1568C>T;HGVS_P=NP_003027.1:p.Ser523Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1568C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Oct_06..2014;ALL_SUBMITTERS=Blueprint_Genetics;SUBMITTERS_ORDERED=Blueprint_Genetics;ALL_TRAITS=Arterial_dissection|Arterial_dissection;ORIGIN=germline;XREFS=Human_Phenotype_Ontology:HP:0005294|MedGen:C0002949|MedGen:CN004695;DATES_ORDERED=2014-10-06 +1 2235825 . C T . . START=2235825;STOP=2235825;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=180522;RCV=RCV000157499|RCV000538872;SCV=SCV000207244|SCV000637284;ALLELE_ID=178441;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1568C>T;HGVS_P=NP_003027.1:p.Ser523Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1568C>T:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jun_07..2017;ALL_SUBMITTERS=Blueprint_Genetics|Invitae;SUBMITTERS_ORDERED=Blueprint_Genetics|Invitae;ALL_TRAITS=Arterial_dissection|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=Human_Phenotype_Ontology:HP:0005294|MedGen:C0002949|MedGen:CN004695|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-10-06|2017-06-07 1 2235830 . G A . . START=2235830;STOP=2235830;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213676;RCV=RCV000197599;SCV=SCV000250659;ALLELE_ID=209478;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1573G>A;HGVS_P=NP_003027.1:p.Val525Ile;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1573G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_17..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-17 1 2235837 . ATGC A . . START=2235841;STOP=2235843;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213704;RCV=RCV000197075;SCV=SCV000250690;ALLELE_ID=209479;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1584_1586delTGC;HGVS_P=NP_003027.1:p.Ala530del;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1584_1586delTGC:inframe_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_05..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-05-05 -1 2235850 . T C . . START=2235850;STOP=2235850;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213677;RCV=RCV000199803|RCV000466338;SCV=SCV000309355|SCV000250660|SCV000560935;ALLELE_ID=209480;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1593T>C;HGVS_P=NP_003027.1:p.Pro531_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1593T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_08..2016;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|Invitae..;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-07-01|0000-00-00|2016-12-08 -1 2235876 . C T . . START=2235876;STOP=2235876;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213697;RCV=RCV000199881;SCV=SCV000250683;ALLELE_ID=209481;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1619C>T;HGVS_P=NP_003027.1:p.Ala540Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1619C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_22..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-03-22 -1 2235877 . G A . . START=2235877;STOP=2235877;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415898;RCV=RCV000456827;SCV=SCV000560934;ALLELE_ID=390993;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1620G>A;HGVS_P=NP_003027.1:p.Ala540_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1620G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-10-26 +1 2235850 . T C . . START=2235850;STOP=2235850;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213677;RCV=RCV000199803|RCV000466338;SCV=SCV000309355|SCV000250660|SCV000560935;ALLELE_ID=209480;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1593T>C;HGVS_P=NP_003027.1:p.Pro531_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1593T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_25..2017;ALL_SUBMITTERS=PreventionGenetics|GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-07-01|0000-00-00|2017-07-25 +1 2235876 . C T . . START=2235876;STOP=2235876;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213697;RCV=RCV000199881|RCV000548962;SCV=SCV000250683|SCV000637285;ALLELE_ID=209481;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1619C>T;HGVS_P=NP_003027.1:p.Ala540Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1619C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_06..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-03-22|2017-04-06 +1 2235877 . G A . . START=2235877;STOP=2235877;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415898;RCV=RCV000456827;SCV=SCV000560934;ALLELE_ID=390993;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1620G>A;HGVS_P=NP_003027.1:p.Ala540_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1620G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-10-26 1 2235889 . C T . . START=2235889;STOP=2235889;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213678;RCV=RCV000196639;SCV=SCV000250661;ALLELE_ID=209482;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1632C>T;HGVS_P=NP_003027.1:p.His544_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1632C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_31..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-07-31 1 2235957 . T C . . START=2235957;STOP=2235957;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=426770;RCV=RCV000489520;SCV=SCV000577301;ALLELE_ID=414774;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1700T>C;HGVS_P=NP_003027.1:p.Val567Ala;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1700T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_05..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-04-05 -1 2235991 . C T . . START=2235991;STOP=2235991;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415897;RCV=RCV000472195;SCV=SCV000560933;ALLELE_ID=391073;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1734C>T;HGVS_P=NP_003027.1:p.Ser578_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1734C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_15..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-05-15 +1 2235991 . C T . . START=2235991;STOP=2235991;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415897;RCV=RCV000472195;SCV=SCV000560933;ALLELE_ID=391073;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1734C>T;HGVS_P=NP_003027.1:p.Ser578_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1734C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_15..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-05-15 1 2235996 . C T . . START=2235996;STOP=2235996;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432018;RCV=RCV000498763;SCV=SCV000589685;ALLELE_ID=425342;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1739C>T;HGVS_P=NP_003027.1:p.Ala580Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1739C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_16..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-16 -1 2236030 . C T . . START=2236030;STOP=2236030;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=239476;RCV=RCV000227068;SCV=SCV000287835;ALLELE_ID=238217;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1767+6C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1767+6C>T:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_21..2015;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-12-21 +1 2236030 . C T . . START=2236030;STOP=2236030;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=239476;RCV=RCV000227068;SCV=SCV000287835;ALLELE_ID=238217;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1767+6C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1767+6C>T:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_21..2015;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-12-21 1 2237477 . G T . . START=2237477;STOP=2237477;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=393207;RCV=RCV000442849;SCV=SCV000536583;ALLELE_ID=364914;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1786G>T;HGVS_P=NP_003027.1:p.Val596Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1786G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_03..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-03 -1 2237525 . C T . . START=2237525;STOP=2237525;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139116;RCV=RCV000179418|RCV000230962|RCV000243796;SCV=SCV000171641|SCV000309356|SCV000269829|SCV000231664|SCV000287836|SCV000319390;ALLELE_ID=142819;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1834C>T;HGVS_P=NP_003027.1:p.Leu612_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1834C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=5;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_15..2017;ALL_SUBMITTERS=PreventionGenetics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Invitae..|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|PreventionGenetics|Invitae..|Ambry_Genetics;ALL_TRAITS=not_specified|Not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=24033266|25741868|20301454|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2014-05-29|2015-06-08|2015-02-20|0000-00-00|2017-01-15|2015-03-04 -1 2237542 . G A . . START=2237542;STOP=2237542;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=198156;RCV=RCV000179419|RCV000473994;SCV=SCV000231665|SCV000560922;ALLELE_ID=195317;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1851G>A;HGVS_P=NP_003027.1:p.Glu617_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1851G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_08..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Invitae..;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-04-02|2016-10-08 -1 2237551 . C T . . START=2237551;STOP=2237551;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415894;RCV=RCV000468377;SCV=SCV000560927;ALLELE_ID=390971;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1860C>T;HGVS_P=NP_003027.1:p.Arg620_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1860C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_24..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-11-24 +1 2237525 . C T . . START=2237525;STOP=2237525;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139116;RCV=RCV000179418|RCV000230962|RCV000243796;SCV=SCV000171641|SCV000309356|SCV000269829|SCV000231664|SCV000287836|SCV000319390;ALLELE_ID=142819;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1834C>T;HGVS_P=NP_003027.1:p.Leu612_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1834C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=5;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_05..2017;ALL_SUBMITTERS=PreventionGenetics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Invitae|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|PreventionGenetics|Invitae|Ambry_Genetics;ALL_TRAITS=not_specified|Not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=24033266|25741868|20301454|28492532|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2014-05-29|2015-06-08|2015-02-20|0000-00-00|2017-05-05|2015-03-04 +1 2237539 . C A . . START=2237539;STOP=2237539;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463398;RCV=RCV000541947;SCV=SCV000637287;ALLELE_ID=447852;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1848C>A;HGVS_P=NP_003027.1:p.Ile616_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1848C>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_15..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-03-15 +1 2237539 . C G . . START=2237539;STOP=2237539;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463399;RCV=RCV000552281;SCV=SCV000637288;ALLELE_ID=447789;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1848C>G;HGVS_P=NP_003027.1:p.Ile616Met;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1848C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_02..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-05-02 +1 2237542 . G A . . START=2237542;STOP=2237542;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=198156;RCV=RCV000179419|RCV000473994;SCV=SCV000231665|SCV000560922;ALLELE_ID=195317;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1851G>A;HGVS_P=NP_003027.1:p.Glu617_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1851G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_16..2017;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Invitae;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-04-02|2017-05-16 +1 2237551 . C T . . START=2237551;STOP=2237551;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415894;RCV=RCV000468377;SCV=SCV000560927;ALLELE_ID=390971;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1860C>T;HGVS_P=NP_003027.1:p.Arg620_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1860C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_24..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-11-24 1 2237554 . C T . . START=2237554;STOP=2237554;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=384451;RCV=RCV000430401;SCV=SCV000525272;ALLELE_ID=364920;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1863C>T;HGVS_P=NP_003027.1:p.Ala621_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1863C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-01 1 2237561 . GAGA G . . START=2237568;STOP=2237570;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213705;RCV=RCV000198612;SCV=SCV000250691;ALLELE_ID=209485;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1877_1879delAGA;HGVS_P=NP_003027.1:p.Lys626del;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1877_1879delAGA:inframe_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_06..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-05-06 1 2237568 . A T . . START=2237568;STOP=2237568;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213698;RCV=RCV000196715;SCV=SCV000250684;ALLELE_ID=209484;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1877A>T;HGVS_P=NP_003027.1:p.Lys626Met;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1877A>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-04-21 -1 2237578 . G A . . START=2237578;STOP=2237578;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415893;RCV=RCV000476076;SCV=SCV000560925;ALLELE_ID=391086;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1887G>A;HGVS_P=NP_003027.1:p.Glu629_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1887G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_09..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-09-09 -1 2237581 . C T . . START=2237581;STOP=2237581;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=198155;RCV=RCV000246302;SCV=SCV000231662|SCV000309358;ALLELE_ID=195316;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1890C>T;HGVS_P=NP_003027.1:p.Ala630_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1890C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Nov_12..2014;ALL_SUBMITTERS=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|PreventionGenetics;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-11-12|0000-00-00 +1 2237578 . G A . . START=2237578;STOP=2237578;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415893;RCV=RCV000476076;SCV=SCV000560925;ALLELE_ID=391086;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1887G>A;HGVS_P=NP_003027.1:p.Glu629_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1887G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_09..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-09-09 +1 2237581 . C T . . START=2237581;STOP=2237581;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=198155;RCV=RCV000246302|RCV000525874;SCV=SCV000231662|SCV000309358|SCV000637289;ALLELE_ID=195316;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1890C>T;HGVS_P=NP_003027.1:p.Ala630_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1890C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_25..2017;ALL_SUBMITTERS=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Invitae;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-11-12|0000-00-00|2017-05-25 1 2237623 . G A . . START=2237623;STOP=2237623;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=383505;RCV=RCV000419527;SCV=SCV000523917;ALLELE_ID=364733;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1932G>A;HGVS_P=NP_003027.1:p.Ala644_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1932G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_09..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-02-09 -1 2237662 . C T . . START=2237662;STOP=2237662;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=239477;RCV=RCV000233767;SCV=SCV000287837;ALLELE_ID=238218;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1971C>T;HGVS_P=NP_003027.1:p.Gly657_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1971C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_25..2015;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-12-25 -1 2237665 . C T . . START=2237665;STOP=2237665;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139117;RCV=RCV000179417|RCV000227524;SCV=SCV000231663|SCV000309359|SCV000171642|SCV000287838;ALLELE_ID=142820;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1974C>T;HGVS_P=NP_003027.1:p.Arg658_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1974C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=4;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|PreventionGenetics|Invitae..;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-06-05|2014-10-07|0000-00-00|2017-01-18 -1 2237674 . C T . . START=2237674;STOP=2237674;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415895;RCV=RCV000475416;SCV=SCV000560928;ALLELE_ID=390995;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1983C>T;HGVS_P=NP_003027.1:p.Ala661_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1983C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_08..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-11-08 +1 2237626 . G T . . START=2237626;STOP=2237626;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463400;RCV=RCV000540734;SCV=SCV000637290;ALLELE_ID=447792;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1935G>T;HGVS_P=NP_003027.1:p.Arg645_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1935G>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_21..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-03-21 +1 2237633 . C G . . START=2237633;STOP=2237633;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463401;RCV=RCV000555329;SCV=SCV000637291;ALLELE_ID=447532;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1942C>G;HGVS_P=NP_003027.1:p.Arg648Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1942C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_29..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-06-29 +1 2237658 . C T . . START=2237658;STOP=2237658;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463402;RCV=RCV000531234;SCV=SCV000637292;ALLELE_ID=447682;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1967C>T;HGVS_P=NP_003027.1:p.Ala656Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1967C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_30..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-03-30 +1 2237662 . C T . . START=2237662;STOP=2237662;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=239477;RCV=RCV000233767;SCV=SCV000287837;ALLELE_ID=238218;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1971C>T;HGVS_P=NP_003027.1:p.Gly657_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1971C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_25..2015;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2015-12-25 +1 2237665 . C T . . START=2237665;STOP=2237665;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=139117;RCV=RCV000179417|RCV000227524;SCV=SCV000231663|SCV000309359|SCV000171642|SCV000287838;ALLELE_ID=142820;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1974C>T;HGVS_P=NP_003027.1:p.Arg658_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1974C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=4;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_13..2017;ALL_SUBMITTERS=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|PreventionGenetics|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Shprintzen-Goldberg_syndrome;ALL_PMIDS=25741868|20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2014-06-05|2014-10-07|0000-00-00|2017-05-13 +1 2237667 . T G . . START=2237667;STOP=2237667;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=449665;RCV=RCV000520058;SCV=SCV000617994;ALLELE_ID=442740;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1976T>G;HGVS_P=NP_003027.1:p.Leu659Arg;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1976T>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_30..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-08-30 +1 2237674 . C T . . START=2237674;STOP=2237674;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415895;RCV=RCV000475416;SCV=SCV000560928;ALLELE_ID=390995;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1983C>T;HGVS_P=NP_003027.1:p.Ala661_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1983C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_08..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-11-08 1 2238000 . C T . . START=2238000;STOP=2238000;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=388616;RCV=RCV000444316;SCV=SCV000530961;ALLELE_ID=364745;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1999-16C>T;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1999-16C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_12..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-08-12 -1 2238024 . C G . . START=2238024;STOP=2238024;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213699;RCV=RCV000198240|RCV000230294|RCV000243311;SCV=SCV000250685|SCV000287839|SCV000320452;ALLELE_ID=209486;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2007C>G;HGVS_P=NP_003027.1:p.Asp669Glu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2007C>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_22..2017;ALL_SUBMITTERS=GeneDx|Invitae..|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|Invitae..|Ambry_Genetics;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301454|20301299|24882528|25173340;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2017-03-22|2017-01-25|2015-10-13 +1 2238007 . C G . . START=2238007;STOP=2238007;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463403;RCV=RCV000546111;SCV=SCV000637293;ALLELE_ID=447533;SYMBOL=SKI;HGVS_C=NM_003036.3:c.1999-9C>G;MOLECULAR_CONSEQUENCE=NM_003036.3:c.1999-9C>G:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_16..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-03-16 +1 2238024 . C G . . START=2238024;STOP=2238024;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213699;RCV=RCV000198240|RCV000230294|RCV000243311;SCV=SCV000250685|SCV000287839|SCV000320452;ALLELE_ID=209486;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2007C>G;HGVS_P=NP_003027.1:p.Asp669Glu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2007C>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_28..2017;ALL_SUBMITTERS=GeneDx|Invitae|Ambry_Genetics;SUBMITTERS_ORDERED=GeneDx|Invitae|Ambry_Genetics;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|Thoracic_aortic_aneurysms_and_aortic_dissections;ALL_PMIDS=20301454|28492532|20301299|24882528|25173340|25519456;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002|CSER_CC_NCGL:_University_of_Washington_Medical_Center:UWMG_7008129|GeneTests:3358|Genetic_Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386|Genetic_Testing_Registry_(GTR):GTR000330992|Genetics_Home_Reference:familial-thoracic-aortic-aneurysm-and-dissection|MedGen:CN118826|OMIM:PS607086|Orphanet:91387;DATES_ORDERED=2017-03-22|2017-06-28|2015-10-13 1 2238024 . C T . . START=2238024;STOP=2238024;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432935;RCV=RCV000498915;SCV=SCV000590713;ALLELE_ID=425343;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2007C>T;HGVS_P=NP_003027.1:p.Asp669_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2007C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_26..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-26 -1 2238026 . T G . . START=2238026;STOP=2238026;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409975;RCV=RCV000473086;SCV=SCV000550380;ALLELE_ID=390973;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2009T>G;HGVS_P=NP_003027.1:p.Leu670Arg;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2009T>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_08..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-11-08 -1 2238030 . G A . . START=2238030;STOP=2238030;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415892;RCV=RCV000460660;SCV=SCV000560923;ALLELE_ID=391089;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2013G>A;HGVS_P=NP_003027.1:p.Gln671_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2013G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_22..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-07-22 +1 2238026 . T G . . START=2238026;STOP=2238026;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=409975;RCV=RCV000473086;SCV=SCV000550380;ALLELE_ID=390973;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2009T>G;HGVS_P=NP_003027.1:p.Leu670Arg;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2009T>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_08..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-11-08 +1 2238030 . G A . . START=2238030;STOP=2238030;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=415892;RCV=RCV000460660;SCV=SCV000560923;ALLELE_ID=391089;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2013G>A;HGVS_P=NP_003027.1:p.Gln671_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2013G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_22..2016;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2016-07-22 +1 2238045 . C G . . START=2238045;STOP=2238045;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463404;RCV=RCV000556095;SCV=SCV000637294;ALLELE_ID=447795;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2028C>G;HGVS_P=NP_003027.1:p.His676Gln;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2028C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_05..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-05-05 +1 2238069 . G T . . START=2238069;STOP=2238069;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463405;RCV=RCV000530007;SCV=SCV000637295;ALLELE_ID=447796;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2052G>T;HGVS_P=NP_003027.1:p.Leu684_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2052G>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_13..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-02-13 1 2238073 . G A . . START=2238073;STOP=2238073;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213709;RCV=RCV000195941;SCV=SCV000250695;ALLELE_ID=209487;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2056G>A;HGVS_P=NP_003027.1:p.Ala686Thr;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2056G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_01..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-12-01 +1 2238078 . C A . . START=2238078;STOP=2238078;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463406;RCV=RCV000544643;SCV=SCV000637296;ALLELE_ID=447853;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2061C>A;HGVS_P=NP_003027.1:p.Asp687Glu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2061C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-06-01 1 2238081 . G C . . START=2238081;STOP=2238081;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=386021;RCV=RCV000425793;SCV=SCV000527527;ALLELE_ID=364756;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2064G>C;HGVS_P=NP_003027.1:p.Leu688_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2064G>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_05..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-05-05 1 2238145 . T C . . START=2238145;STOP=2238145;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213710;RCV=RCV000196830;SCV=SCV000250696;ALLELE_ID=209488;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2128T>C;HGVS_P=NP_003027.1:p.Trp710Arg;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2128T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_20..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-01-20 +1 2238157 . C T . . START=2238157;STOP=2238157;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=451473;RCV=RCV000522009;SCV=SCV000620179;ALLELE_ID=442741;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2140C>T;HGVS_P=NP_003027.1:p.Arg714Cys;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2140C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_16..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-08-16 1 2238158 . G A . . START=2238158;STOP=2238158;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213679;RCV=RCV000197481;SCV=SCV000250662;ALLELE_ID=209489;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2141G>A;HGVS_P=NP_003027.1:p.Arg714His;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2141G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_23..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-07-23 1 2238170 . C G . . START=2238170;STOP=2238170;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213680;RCV=RCV000199684;SCV=SCV000250663;ALLELE_ID=209490;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2153C>G;HGVS_P=NP_003027.1:p.Ala718Gly;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2153C>G:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_11..2014;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-08-11 +1 2238182 . G T . . START=2238182;STOP=2238182;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=463407;RCV=RCV000559446;SCV=SCV000637297;ALLELE_ID=447797;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2165G>T;HGVS_P=NP_003027.1:p.Gly722Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2165G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_06..2017;ALL_SUBMITTERS=Invitae;SUBMITTERS_ORDERED=Invitae;ALL_TRAITS=Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-04-06 1 2238188 . C T . . START=2238188;STOP=2238188;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=440269;RCV=RCV000507977;SCV=SCV000605114;ALLELE_ID=433915;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2171C>T;HGVS_P=NP_003027.1:p.Ala724Val;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2171C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_04..2016;ALL_SUBMITTERS=ARUP_Laboratories..Molecular_Genetics_and_Genomics;SUBMITTERS_ORDERED=ARUP_Laboratories..Molecular_Genetics_and_Genomics;ALL_TRAITS=not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-04 -1 2238191 . A C . . START=2238191;STOP=2238191;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213700;RCV=RCV000199766;SCV=SCV000250686;ALLELE_ID=209491;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2174A>C;HGVS_P=NP_003027.1:p.Glu725Ala;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2174A>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_27..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-27 +1 2238191 . A C . . START=2238191;STOP=2238191;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213700;RCV=RCV000199766|RCV000537625;SCV=SCV000250686|SCV000637298;ALLELE_ID=209491;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2174A>C;HGVS_P=NP_003027.1:p.Glu725Ala;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2174A>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_31..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-10-31|2017-06-14 1 2238200 . C T . . START=2238200;STOP=2238200;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=213701;RCV=RCV000196525;SCV=SCV000250687;ALLELE_ID=209492;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2183C>T;HGVS_P=NP_003027.1:p.Pro728Leu;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2183C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_08..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-08 -1 2238201 . G C . . START=2238201;STOP=2238201;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=386048;RCV=RCV000429161|RCV000474716;SCV=SCV000527559|SCV000560936;ALLELE_ID=364924;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2184G>C;HGVS_P=NP_003027.1:p.Pro728_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2184G>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_29..2017;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-06-29|2016-10-01 +1 2238201 . G C . . START=2238201;STOP=2238201;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=386048;RCV=RCV000429161|RCV000474716;SCV=SCV000527559|SCV000560936;ALLELE_ID=364924;SYMBOL=SKI;HGVS_C=NM_003036.3:c.2184G>C;HGVS_P=NP_003027.1:p.Pro728_eq_;MOLECULAR_CONSEQUENCE=NM_003036.3:c.2184G>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_29..2017;ALL_SUBMITTERS=GeneDx|Invitae;SUBMITTERS_ORDERED=GeneDx|Invitae;ALL_TRAITS=not_specified|Shprintzen-Goldberg_syndrome;ALL_PMIDS=20301454;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1277|Genetic_Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581|Genetics_Home_Reference:shprintzen-goldberg-syndrome|MedGen:C1321551|OMIM:182212|Office_of_Rare_Diseases:4861|Orphanet:2462|SNOMED_CT:83092002;DATES_ORDERED=2017-06-29|2016-10-01 1 2238204 . GATT G . . START=2238205;STOP=2238207;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=222822;RCV=RCV000208246;SCV=SCV000264227;ALLELE_ID=224193;SYMBOL=SKI;HGVS_C=NM_003036.3:c.*1_*3delATT;MOLECULAR_CONSEQUENCE=NM_003036.3:c.*1_*3delATT:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_01..2015;ALL_SUBMITTERS=Blueprint_Genetics;SUBMITTERS_ORDERED=Blueprint_Genetics;ALL_TRAITS=Marfanoid_habitus;ORIGIN=germline;XREFS=MedGen:C1839796;DATES_ORDERED=2015-06-01 1 2238221 . C T . . START=2238221;STOP=2238221;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=383970;RCV=RCV000425474;SCV=SCV000524596;ALLELE_ID=364926;SYMBOL=SKI;HGVS_C=NM_003036.3:c.*17C>T;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_07..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-07 1 2336351 . C T . . START=2336351;STOP=2336351;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296252;RCV=RCV000386642;SCV=SCV000355579;ALLELE_ID=281775;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.*854G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.*854G>A:3_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14 @@ -530,31 +678,33 @@ 1 2337997 . G A . . START=2337997;STOP=2337997;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=286808;RCV=RCV000407787;SCV=SCV000340373;ALLELE_ID=271045;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.898C>T;HGVS_P=NP_722540.1:p.Arg300Cys;MOLECULAR_CONSEQUENCE=NM_153818.1:c.898C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_22..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-22 1 2338000 . C A . . START=2338000;STOP=2338000;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=282334;RCV=RCV000289565;SCV=SCV000333750;ALLELE_ID=266571;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.895G>T;HGVS_P=NP_722540.1:p.Glu299Ter;MOLECULAR_CONSEQUENCE=NM_153818.1:c.895G>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_12..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=Peroxisome_biogenesis_disorder_6A;ORIGIN=germline;XREFS=Genetic_Testing_Registry_(GTR):GTR000522761|MedGen:C3553947|OMIM:602859.0001|OMIM:602859.0004|OMIM:602859.0005|OMIM:602859.0006|OMIM:614870|Orphanet:912;DATES_ORDERED=2015-08-12 1 2338005 . A G . . START=2338005;STOP=2338005;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=162432;RCV=RCV000149810;SCV=SCV000196634;ALLELE_ID=172123;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.890T>C;HGVS_P=NP_722540.1:p.Leu297Pro;MOLECULAR_CONSEQUENCE=NM_153818.1:c.890T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_12..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=19127411|6;ORIGIN=germline;XREFS=MedGen:C3553948|OMIM:614871|Orphanet:44;DATES_ORDERED=2009-02-01 -1 2338015 . T C . . START=2338015;STOP=2338015;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=197887;RCV=RCV000179027;SCV=SCV000231216|SCV000540015|SCV000316395;ALLELE_ID=195048;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.880A>G;HGVS_P=NP_722540.1:p.Thr294Ala;MOLECULAR_CONSEQUENCE=NM_153818.1:c.880A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Mar_29..2016;ALL_SUBMITTERS=PreventionGenetics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|PreventionGenetics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|not_specified|NOT_SPECIFIED|not_specified;ALL_PMIDS=24033266|25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-11-23|0000-00-00|2016-03-29 +1 2338015 . T C . . START=2338015;STOP=2338015;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=197887;RCV=RCV000179027|RCV000538777;SCV=SCV000231216|SCV000540015|SCV000316395|SCV000644952;ALLELE_ID=195048;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.880A>G;HGVS_P=NP_722540.1:p.Thr294Ala;MOLECULAR_CONSEQUENCE=NM_153818.1:c.880A>G:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_09..2017;ALL_SUBMITTERS=PreventionGenetics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Invitae;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|PreventionGenetics|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae;ALL_TRAITS=not_specified|NOT_SPECIFIED|Peroxisome_biogenesis_disorder..complementation_group_7;ALL_PMIDS=24033266|25741868|28492532;ORIGIN=germline;XREFS=MedGen:CN169374|MedGen:C1864399|OMIM:614870;DATES_ORDERED=2014-11-23|0000-00-00|2016-03-29|2017-06-09 1 2338019 . C A . . START=2338019;STOP=2338019;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=289743;RCV=RCV000264178;SCV=SCV000344149;ALLELE_ID=273980;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.876G>T;HGVS_P=NP_722540.1:p.Leu292_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.876G>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_27..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-08-27 1 2338019 . CAG C . . START=2338020;STOP=2338021;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296273;RCV=RCV000337969|RCV000409050|RCV000411962;SCV=SCV000355604|SCV000487552|SCV000487551;ALLELE_ID=281791;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.874_875delCT;HGVS_P=NP_722540.1:p.Leu292Valfs;MOLECULAR_CONSEQUENCE=NM_153818.1:c.874_875delCT:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=3;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_16..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina|Counsyl;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina|Counsyl;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome|Peroxisome_biogenesis_disorder_6B|Peroxisome_biogenesis_disorder_6A;ALL_PMIDS=10862081|12794690|19142205|20301621|21031596|22871920|27230853|9700193;ORIGIN=germline|unknown;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006|MedGen:C3553948|OMIM:614871|Orphanet:44|Genetic_Testing_Registry_(GTR):GTR000522761|MedGen:C3553947|OMIM:602859.0001|OMIM:602859.0004|OMIM:602859.0005|OMIM:602859.0006|OMIM:614870;DATES_ORDERED=2016-06-14|2016-08-16 1 2338023 . G A . . START=2338023;STOP=2338023;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=289191;RCV=RCV000281616;SCV=SCV000343505;ALLELE_ID=273428;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.872C>T;HGVS_P=NP_722540.1:p.Pro291Leu;MOLECULAR_CONSEQUENCE=NM_153818.1:c.872C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_30..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-06-30 1 2338024 . G T . . START=2338024;STOP=2338024;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=286993;RCV=RCV000388149;SCV=SCV000340616;ALLELE_ID=271230;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.871C>A;HGVS_P=NP_722540.1:p.Pro291Thr;MOLECULAR_CONSEQUENCE=NM_153818.1:c.871C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_05..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-04-05 1 2338151 . G A . . START=2338151;STOP=2338151;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296274;RCV=RCV000400274;SCV=SCV000355605;ALLELE_ID=280483;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.836+8C>T;MOLECULAR_CONSEQUENCE=NM_153818.1:c.836+8C>T:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14 -1 2338158 . C G . . START=2338158;STOP=2338158;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=225040;RCV=RCV000210672;SCV=SCV000262930;ALLELE_ID=226879;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.836+1G>C;MOLECULAR_CONSEQUENCE=NM_153818.1:c.836+1G>C:splice_donor_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=-;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Inborn_genetic_diseases|MR/ID/DD|Allergy/Immunologic/Infectious_(child_onset)|Hematologic_(child_onset)|Renal_(child_onset);ALL_PMIDS=22947299|23037933|23169492|23619275|23652378|23881473|24022298|24121147|24394680|25356970|25560141|25626707|25730230;ORIGIN=germline;XREFS=MeSH:D030342|MedGen:C0950123;DATES_ORDERED=0000-00-00 +1 2338158 . C G . . START=2338158;STOP=2338158;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=225040;RCV=RCV000210672;SCV=SCV000262930;ALLELE_ID=226879;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.836+1G>C;MOLECULAR_CONSEQUENCE=NM_153818.1:c.836+1G>C:splice_donor_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_30..2012;ALL_SUBMITTERS=Ambry_Genetics;SUBMITTERS_ORDERED=Ambry_Genetics;ALL_TRAITS=Inborn_genetic_diseases|Inborn_genetic_diseases;ALL_PMIDS=22947299|23037933|23169492|23619275|23652378|23881473|24022298|24121147|24394680|25560141|25626707|25730230;ORIGIN=germline;XREFS=MeSH:D030342|MedGen:C0950123;DATES_ORDERED=2012-08-30 1 2338162 . C T . . START=2338162;STOP=2338162;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=290110;RCV=RCV000268088;SCV=SCV000344607;ALLELE_ID=274347;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.833G>A;HGVS_P=NP_722540.1:p.Arg278His;MOLECULAR_CONSEQUENCE=NM_153818.1:c.833G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_31..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-08-31 1 2338175 . C T . . START=2338175;STOP=2338175;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296275;RCV=RCV000297739;SCV=SCV000355606;ALLELE_ID=281804;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.820G>A;HGVS_P=NP_722540.1:p.Gly274Ser;MOLECULAR_CONSEQUENCE=NM_153818.1:c.820G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14 1 2338205 . G A . . START=2338205;STOP=2338205;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=162435;RCV=RCV000149813;SCV=SCV000196637;ALLELE_ID=172126;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.790C>T;HGVS_P=NP_722540.1:p.Arg264Ter;MOLECULAR_CONSEQUENCE=NM_153818.1:c.790C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_12..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=20695019;ORIGIN=germline;XREFS=MedGen:C3553948|OMIM:614871|Orphanet:44;DATES_ORDERED=2010-08-01 1 2338223 . C G . . START=2338223;STOP=2338223;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=197385;RCV=RCV000178398;SCV=SCV000230471;ALLELE_ID=194546;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.772G>C;HGVS_P=NP_722540.1:p.Gly258Arg;MOLECULAR_CONSEQUENCE=NM_153818.1:c.772G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_04..2015;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-02-04 1 2338224 . G A . . START=2338224;STOP=2338224;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296276;RCV=RCV000354897;SCV=SCV000355607;ALLELE_ID=280485;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.771C>T;HGVS_P=NP_722540.1:p.Tyr257_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.771C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14 -1 2338230 . C CT . . START=2338231;STOP=2338231;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=6774;RCV=RCV000007176|RCV000149808|RCV000324305;SCV=SCV000027372|SCV000487553|SCV000487554|SCV000196632|SCV000329456;ALLELE_ID=21813;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.764dupA;HGVS_P=NP_722540.1:p.Leu256Alafs;MOLECULAR_CONSEQUENCE=NM_153818.1:c.764dupA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=5;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_22..2016;ALL_SUBMITTERS=OMIM|Counsyl|GeneDx;SUBMITTERS_ORDERED=OMIM|Counsyl|GeneDx;ALL_TRAITS=Peroxisome_biogenesis_disorder_6A|PEROXISOME_BIOGENESIS_DISORDER_6A_(ZELLWEGER)|Peroxisome_biogenesis_disorder_6B|not_provided|Not_Provided;ALL_PMIDS=10862081|15542397|17702006|20695019|9683594;ORIGIN=germline|unknown;XREFS=Genetic_Testing_Registry_(GTR):GTR000522761|MedGen:C3553947|OMIM:602859.0001|OMIM:602859.0004|OMIM:602859.0005|OMIM:602859.0006|OMIM:614870|Orphanet:912|MedGen:C3553948|OMIM:614871|Orphanet:44|MedGen:CN221809;DATES_ORDERED=2010-08-01|2016-07-22|2015-12-08 -1 2338250 . C G . . START=2338250;STOP=2338250;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296277;RCV=RCV000408360|RCV000425126;SCV=SCV000355608|SCV000511689;ALLELE_ID=280137;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.745G>C;HGVS_P=NP_722540.1:p.Val249Leu;MOLECULAR_CONSEQUENCE=NM_153818.1:c.745G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_05..2017;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome|not_provided;ALL_PMIDS=20301621|25741868;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006|MedGen:CN221809;DATES_ORDERED=2016-06-14|2017-01-05-06:00 +1 2338230 . C CT . . START=2338231;STOP=2338231;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=6774;RCV=RCV000007176|RCV000149808|RCV000324305;SCV=SCV000027372|SCV000487553|SCV000487554|SCV000196632|SCV000329456;ALLELE_ID=21813;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.764dupA;HGVS_P=NP_722540.1:p.Leu256Alafs;MOLECULAR_CONSEQUENCE=NM_153818.1:c.764dupA:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=5;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Jul_22..2016;ALL_SUBMITTERS=OMIM|Counsyl|GeneDx;SUBMITTERS_ORDERED=OMIM|Counsyl|GeneDx;ALL_TRAITS=Peroxisome_biogenesis_disorder_6A|PEROXISOME_BIOGENESIS_DISORDER_6A_(ZELLWEGER)|Peroxisome_biogenesis_disorder_6B|not_provided|Not_Provided;ALL_PMIDS=10862081|15542397|17702006|20695019|9683594;ORIGIN=germline|unknown;XREFS=Genetic_Testing_Registry_(GTR):GTR000522761|MedGen:C3553947|OMIM:602859.0001|OMIM:602859.0004|OMIM:602859.0005|OMIM:602859.0006|OMIM:614870|Orphanet:912|MedGen:C3553948|OMIM:614871|Orphanet:44|MedGen:CN517202;DATES_ORDERED=2010-08-01|2016-07-22|2015-12-08 +1 2338250 . C G . . START=2338250;STOP=2338250;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296277;RCV=RCV000408360|RCV000425126;SCV=SCV000355608|SCV000511689;ALLELE_ID=280137;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.745G>C;HGVS_P=NP_722540.1:p.Val249Leu;MOLECULAR_CONSEQUENCE=NM_153818.1:c.745G>C:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_05..2017;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina|Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome|not_provided;ALL_PMIDS=20301621|25741868;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006|MedGen:CN517202;DATES_ORDERED=2016-06-14|2017-01-05 1 2338294 . C T . . START=2338294;STOP=2338294;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=291156;RCV=RCV000343088;SCV=SCV000345862;ALLELE_ID=275393;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.701G>A;HGVS_P=NP_722540.1:p.Arg234His;MOLECULAR_CONSEQUENCE=NM_153818.1:c.701G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_08..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-08 +1 2338295 . G A . . START=2338295;STOP=2338295;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=446046;RCV=RCV000514876;SCV=SCV000611011;ALLELE_ID=439318;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.700C>T;HGVS_P=NP_722540.1:p.Arg234Cys;MOLECULAR_CONSEQUENCE=NM_153818.1:c.700C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_05..2017;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2017-09-05 1 2338324 . C T . . START=2338324;STOP=2338324;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=197386;RCV=RCV000178399|RCV000315166;SCV=SCV000230472|SCV000355609;ALLELE_ID=194547;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.671G>A;HGVS_P=NP_722540.1:p.Arg224His;MOLECULAR_CONSEQUENCE=NM_153818.1:c.671G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2015-04-21|2016-06-14 1 2338409 . C T . . START=2338409;STOP=2338409;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296278;RCV=RCV000367525;SCV=SCV000355610;ALLELE_ID=281805;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.601-15G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.601-15G>A:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14 -1 2339890 . C T . . START=2339890;STOP=2339890;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=6770;RCV=RCV000007172;SCV=SCV000027368;ALLELE_ID=21809;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.600+1G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.600+1G>A:splice_donor_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6A|PEROXISOME_BIOGENESIS_DISORDER_6A_(ZELLWEGER);ALL_PMIDS=9683594;ORIGIN=germline;XREFS=Genetic_Testing_Registry_(GTR):GTR000522761|MedGen:C3553947|OMIM:602859.0001|OMIM:602859.0004|OMIM:602859.0005|OMIM:602859.0006|OMIM:614870|Orphanet:912;DATES_ORDERED=1998-08-01 +1 2339890 . C T . . START=2339890;STOP=2339890;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=6770;RCV=RCV000007172|RCV000519441;SCV=SCV000027368|SCV000617242;ALLELE_ID=21809;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.600+1G>A;MOLECULAR_CONSEQUENCE=NM_153818.1:c.600+1G>A:splice_donor_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=2;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=May_15..2017;ALL_SUBMITTERS=OMIM|GeneDx;SUBMITTERS_ORDERED=OMIM|GeneDx;ALL_TRAITS=Peroxisome_biogenesis_disorder_6A|PEROXISOME_BIOGENESIS_DISORDER_6A_(ZELLWEGER)|not_provided|Not_Provided;ALL_PMIDS=9683594;ORIGIN=germline;XREFS=Genetic_Testing_Registry_(GTR):GTR000522761|MedGen:C3553947|OMIM:602859.0001|OMIM:602859.0004|OMIM:602859.0005|OMIM:602859.0006|OMIM:614870|Orphanet:912|MedGen:CN517202;DATES_ORDERED=1998-08-01|2017-05-15 1 2339936 . G A . . START=2339936;STOP=2339936;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296279;RCV=RCV000275159;SCV=SCV000355611;ALLELE_ID=281806;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.555C>T;HGVS_P=NP_722540.1:p.His185_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.555C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14 1 2339996 . G A . . START=2339996;STOP=2339996;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=196588;RCV=RCV000177416;SCV=SCV000229272;ALLELE_ID=193749;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.495C>T;HGVS_P=NP_722540.1:p.Phe165_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.495C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_06..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-06 1 2340045 . G A . . START=2340045;STOP=2340045;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=289259;RCV=RCV000378264;SCV=SCV000343590;ALLELE_ID=273496;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.446C>T;HGVS_P=NP_722540.1:p.Thr149Met;MOLECULAR_CONSEQUENCE=NM_153818.1:c.446C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_05..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-05 +1 2340055 . G C . . START=2340055;STOP=2340055;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=452215;RCV=RCV000520880;SCV=SCV000621003;ALLELE_ID=442784;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.436C>G;HGVS_P=NP_722540.1:p.Arg146Gly;MOLECULAR_CONSEQUENCE=NM_153818.1:c.436C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_22..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-09-22 1 2340073 . C G . . START=2340073;STOP=2340073;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296280;RCV=RCV000309150;SCV=SCV000355612;ALLELE_ID=281810;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.418G>C;HGVS_P=NP_722540.1:p.Gly140Arg;MOLECULAR_CONSEQUENCE=NM_153818.1:c.418G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14 1 2340118 . G A . . START=2340118;STOP=2340118;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=6772;RCV=RCV000007174;SCV=SCV000027370;ALLELE_ID=21811;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.373C>T;HGVS_P=NP_722540.1:p.Arg125Ter;MOLECULAR_CONSEQUENCE=NM_153818.1:c.373C>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Aug_01..1998;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=9683594;ORIGIN=germline;XREFS=MedGen:C3553948|OMIM:614871|Orphanet:44;DATES_ORDERED=1998-08-01 1 2340139 . G A . . START=2340139;STOP=2340139;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=371748;RCV=RCV000410037|RCV000411504;SCV=SCV000487627|SCV000487628;ALLELE_ID=357074;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.352C>T;HGVS_P=NP_722540.1:p.Gln118Ter;MOLECULAR_CONSEQUENCE=NM_153818.1:c.352C>T:nonsense;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=2;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_21..2016;ALL_SUBMITTERS=Counsyl;SUBMITTERS_ORDERED=Counsyl;ALL_TRAITS=Peroxisome_biogenesis_disorder_6A|Peroxisome_biogenesis_disorder_6B;ALL_PMIDS=10862081|21031596|25525159;ORIGIN=unknown;XREFS=Genetic_Testing_Registry_(GTR):GTR000522761|MedGen:C3553947|OMIM:602859.0001|OMIM:602859.0004|OMIM:602859.0005|OMIM:602859.0006|OMIM:614870|Orphanet:912|MedGen:C3553948|OMIM:614871|Orphanet:44;DATES_ORDERED=2016-10-21 -1 2340152 . CA C . . START=2340153;STOP=2340153;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=235465;RCV=RCV000224922;SCV=SCV000281066;ALLELE_ID=237148;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.338delT;HGVS_P=NP_722540.1:p.Leu113Argfs;MOLECULAR_CONSEQUENCE=NM_153818.1:c.338delT:frameshift_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_11..2016;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-01-11-06:00 +1 2340152 . CA C . . START=2340153;STOP=2340153;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=235465;RCV=RCV000224922;SCV=SCV000281066;ALLELE_ID=237148;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.338delT;HGVS_P=NP_722540.1:p.Leu113Argfs;MOLECULAR_CONSEQUENCE=NM_153818.1:c.338delT:frameshift_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_11..2016;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2016-01-11 1 2340153 . AG A . . START=2340154;STOP=2340154;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=162431;RCV=RCV000149809;SCV=SCV000196633;ALLELE_ID=172122;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.337delC;HGVS_P=NP_722540.1:p.Leu113Trpfs;MOLECULAR_CONSEQUENCE=NM_153818.1:c.337delC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_12..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=19127411|8982949;ORIGIN=germline;XREFS=MedGen:C3553948|OMIM:614871|Orphanet:44;DATES_ORDERED=2009-02-01 1 2340158 . G A . . START=2340158;STOP=2340158;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=289556;RCV=RCV000356298;SCV=SCV000343936;ALLELE_ID=273793;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.333C>T;HGVS_P=NP_722540.1:p.Leu111_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.333C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-07-15 1 2340173 . C T . . START=2340173;STOP=2340173;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=262789;RCV=RCV000249703|RCV000366305;SCV=SCV000316394|SCV000355613;ALLELE_ID=249843;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.318G>A;HGVS_P=NP_722540.1:p.Leu106_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.318G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=PreventionGenetics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|NOT_SPECIFIED|Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=25741868|20301621;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=0000-00-00|2016-06-14 @@ -567,8 +717,9 @@ 1 2340302 . G A . . START=2340302;STOP=2340302;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=262788;RCV=RCV000250225|RCV000377774;SCV=SCV000334697|SCV000316391|SCV000355619;ALLELE_ID=249844;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.194-5C>T;MOLECULAR_CONSEQUENCE=NM_153818.1:c.194-5C>T:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=PreventionGenetics|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics|Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=not_specified|NOT_SPECIFIED|Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=25741868|20301621;ORIGIN=germline;XREFS=MedGen:CN169374|GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=0000-00-00|2015-09-04|2016-06-14 1 2341879 . A T . . START=2341879;STOP=2341879;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=436285;RCV=RCV000503264;SCV=SCV000596392;ALLELE_ID=427756;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.124T>A;HGVS_P=NP_722540.1:p.Trp42Arg;MOLECULAR_CONSEQUENCE=NM_153818.1:c.124T>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_13..2015;ALL_SUBMITTERS=Genetic_Services_Laboratory..University_of_Chicago;SUBMITTERS_ORDERED=Genetic_Services_Laboratory..University_of_Chicago;ALL_TRAITS=not_specified|not_specified;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-08-13 1 2343936 . G C . . START=2343936;STOP=2343936;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=284321;RCV=RCV000280964|RCV000370857;SCV=SCV000355620|SCV000336900;ALLELE_ID=268558;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.6C>G;HGVS_P=NP_722540.1:p.Ala2_eq_;MOLECULAR_CONSEQUENCE=NM_153818.1:c.6C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina|EGL_Genetic_Diagnostics..Eurofins_Clinical_Diagnostics;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome|not_specified;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006|MedGen:CN169374;DATES_ORDERED=2016-06-14|2015-10-30 +1 2343937 . GC G . . START=2343938;STOP=2343938;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=449304;RCV=RCV000520897;SCV=SCV000617243;ALLELE_ID=442785;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.4delG;HGVS_P=NP_722540.1:p.Ala2Profs;MOLECULAR_CONSEQUENCE=NM_153818.1:c.4delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_15..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2017-05-15 1 2343940 . A G . . START=2343940;STOP=2343940;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=162434;RCV=RCV000149812;SCV=SCV000196636;ALLELE_ID=172125;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.2T>C;HGVS_P=NP_722540.1:p.Met1Thr;MOLECULAR_CONSEQUENCE=NM_153818.1:c.2T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jan_12..2015;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Peroxisome_biogenesis_disorder_6B|PEROXISOME_BIOGENESIS_DISORDER_6B;ALL_PMIDS=20695019;ORIGIN=germline;XREFS=MedGen:C3553948|OMIM:614871|Orphanet:44;DATES_ORDERED=2010-08-01 -1 2343941 . T C . . START=2343941;STOP=2343941;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=280002;RCV=RCV000341916;SCV=SCV000329696;ALLELE_ID=263985;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.1A>G;HGVS_P=NP_722540.1:p.Met1Val;MOLECULAR_CONSEQUENCE=NM_153818.1:c.1A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_25..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2015-11-25 +1 2343941 . T C . . START=2343941;STOP=2343941;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=280002;RCV=RCV000341916;SCV=SCV000329696;ALLELE_ID=263985;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.1A>G;HGVS_P=NP_722540.1:p.Met1Val;MOLECULAR_CONSEQUENCE=NM_153818.1:c.1A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_25..2015;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN517202;DATES_ORDERED=2015-11-25 1 2343991 . CCA C . . START=2343992;STOP=2343993;STRAND=-;VARIATION_TYPE=Variant;VARIATION_ID=296284;RCV=RCV000338225;SCV=SCV000355621;ALLELE_ID=281942;SYMBOL=PEX10;HGVS_C=NM_153818.1:c.-52_-51delTG;MOLECULAR_CONSEQUENCE=NM_153818.1:c.-52_-51delTG:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Illumina_Clinical_Services_Laboratory..Illumina;SUBMITTERS_ORDERED=Illumina_Clinical_Services_Laboratory..Illumina;ALL_TRAITS=Zellweger_syndrome|Zellweger_Syndrome;ALL_PMIDS=20301621;ORIGIN=germline;XREFS=GeneReviews:NBK1448|Genetic_Alliance:Zellweger+syndrome/7597|Genetics_Home_Reference:zellweger-spectrum-disorder|MedGen:C0043459|OMIM:214100|Office_of_Rare_Diseases:7917|Orphanet:912|SNOMED_CT:88469006;DATES_ORDERED=2016-06-14 1 2488153 . A G . . START=2488153;STOP=2488153;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135349;RCV=RCV000122164;SCV=SCV000086379;ALLELE_ID=139088;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.50A>G;HGVS_P=NP_003811.2:p.Lys17Arg;MOLECULAR_CONSEQUENCE=NM_003820.3:c.50A>G:missense_variant|NR_037844.2:n.36-18T>C:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19 1 2490452 . C T . . START=2490452;STOP=2490452;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133394;RCV=RCV000119896;SCV=SCV000084026;ALLELE_ID=137133;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.304+545C>T;MOLECULAR_CONSEQUENCE=NM_003820.3:c.304+545C>T:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19 @@ -597,154 +748,3 @@ 1 2491306 . G A . . START=2491306;STOP=2491306;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135353;RCV=RCV000122168;SCV=SCV000086383;ALLELE_ID=139092;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.349G>A;HGVS_P=NP_003811.2:p.Ala117Thr;MOLECULAR_CONSEQUENCE=NM_003820.3:c.349G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19 1 2491362 . C T . . START=2491362;STOP=2491362;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135351;RCV=RCV000122166;SCV=SCV000086381;ALLELE_ID=139090;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.405C>T;HGVS_P=NP_003811.2:p.Cys135_eq_;MOLECULAR_CONSEQUENCE=NM_003820.3:c.405C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19 1 2491365 . C T . . START=2491365;STOP=2491365;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135352;RCV=RCV000122167;SCV=SCV000086382;ALLELE_ID=139091;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.408C>T;HGVS_P=NP_003811.2:p.Ala136_eq_;MOLECULAR_CONSEQUENCE=NM_003820.3:c.408C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19 -1 2492123 . G A . . START=2492123;STOP=2492123;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135354;RCV=RCV000122169;SCV=SCV000086384;ALLELE_ID=139093;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.521G>A;HGVS_P=NP_003811.2:p.Gly174Glu;MOLECULAR_CONSEQUENCE=NM_003820.3:c.521G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19 -1 2492946 . AG A . . START=2492947;STOP=2492947;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133416;RCV=RCV000119918;SCV=SCV000084048;ALLELE_ID=137155;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.552-165delG;MOLECULAR_CONSEQUENCE=NM_003820.3:c.552-165delG:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19 -1 2492972 . C T . . START=2492972;STOP=2492972;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=133417;RCV=RCV000119919;SCV=SCV000084049;ALLELE_ID=137156;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.552-140C>T;MOLECULAR_CONSEQUENCE=NM_003820.3:c.552-140C>T:intron_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19 -1 2493118 . C G . . START=2493118;STOP=2493118;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=91954;RCV=RCV000122511;SCV=SCV000155019;ALLELE_ID=97432;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.558C>G;HGVS_P=NP_003811.2:p.Ser186Arg;MOLECULAR_CONSEQUENCE=NM_001297605.1:c.551+965C>G:intron_variant|NM_003820.3:c.558C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=unknown;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=-;ALL_SUBMITTERS=Richard_Lifton_Laboratory..Yale_University_School_of_Medicine;SUBMITTERS_ORDERED=Richard_Lifton_Laboratory..Yale_University_School_of_Medicine;ALL_TRAITS=not_provided|not_provided;ORIGIN=somatic;XREFS=MedGen:CN221809;DATES_ORDERED=0000-00-00 -1 2494330 . G A . . START=2494330;STOP=2494330;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135355;RCV=RCV000122170;SCV=SCV000086385;ALLELE_ID=139094;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.721G>A;HGVS_P=NP_003811.2:p.Val241Ile;MOLECULAR_CONSEQUENCE=NM_001297605.1:c.*23G>A:3_prime_UTR_variant|NM_003820.3:c.721G>A:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19 -1 2494645 . C T . . START=2494645;STOP=2494645;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135356;RCV=RCV000122171;SCV=SCV000086386;ALLELE_ID=139095;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.785C>T;HGVS_P=NP_003811.2:p.Pro262Leu;MOLECULAR_CONSEQUENCE=NM_001297605.1:c.*87C>T:3_prime_UTR_variant|NM_003820.3:c.785C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19 -1 2494657 . C T . . START=2494657;STOP=2494657;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=135357;RCV=RCV000122172;SCV=SCV000086387;ALLELE_ID=139096;SYMBOL=TNFRSF14;HGVS_C=NM_003820.3:c.797C>T;HGVS_P=NP_003811.2:p.Thr266Met;MOLECULAR_CONSEQUENCE=NM_001297605.1:c.*99C>T:3_prime_UTR_variant|NM_003820.3:c.797C>T:missense_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Sep_19..2013;ALL_SUBMITTERS=ITMI;SUBMITTERS_ORDERED=ITMI;ALL_TRAITS=not_specified|AllHighlyPenetrant;ALL_PMIDS=24728327;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2013-09-19 -1 2985810 . C A . . START=2985810;STOP=2985810;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=228319;RCV=RCV000214266;SCV=SCV000271302;ALLELE_ID=228411;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.-14C>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.-14C>A:5_prime_UTR_variant;CLINICAL_SIGNIFICANCE=not_provided;CLINICAL_SIGNIFICANCE_ORDERED=not_provided;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_provided;REVIEW_STATUS_ORDERED=no_assertion_provided;LAST_EVALUATED=Apr_07..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-04-07 -1 2985844 . G A . . START=2985844;STOP=2985844;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390136;RCV=RCV000439530;SCV=SCV000532887;ALLELE_ID=365123;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.21G>A;HGVS_P=NP_071397.3:p.Ala7_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.21G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-26 -1 3102674 . C T . . START=3102674;STOP=3102674;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227038;RCV=RCV000222776;SCV=SCV000525689|SCV000269736;ALLELE_ID=228410;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.38-15C>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.38-15C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Nov_21..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-11-24|2016-11-21 -1 3102675 . G A . . START=3102675;STOP=3102675;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229168;RCV=RCV000219133;SCV=SCV000527901|SCV000272332;ALLELE_ID=228412;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.38-14G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.38-14G>A:intron_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=May_25..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-14|2017-05-25 -1 3102751 . G A . . START=3102751;STOP=3102751;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227857;RCV=RCV000215109|RCV000228623;SCV=SCV000270747|SCV000525664|SCV000290637;ALLELE_ID=228413;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.100G>A;HGVS_P=NP_071397.3:p.Ala34Thr;MOLECULAR_CONSEQUENCE=NM_022114.3:c.100G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=3;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_12..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-04-01|2016-10-06|2016-12-12 -1 3102752 . C T . . START=3102752;STOP=3102752;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406246;RCV=RCV000456657;SCV=SCV000544798;ALLELE_ID=391167;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.101C>T;HGVS_P=NP_071397.3:p.Ala34Val;MOLECULAR_CONSEQUENCE=NM_022114.3:c.101C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_19..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-12-19 -1 3102793 . G A . . START=3102793;STOP=3102793;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241420;RCV=RCV000234327|RCV000430883;SCV=SCV000290639|SCV000534200;ALLELE_ID=238267;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.142G>A;HGVS_P=NP_071397.3:p.Val48Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.142G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_22..2016;ALL_SUBMITTERS=Invitae..|GeneDx;SUBMITTERS_ORDERED=Invitae..|GeneDx;ALL_TRAITS=Left_ventricular_noncompaction_8|not_specified;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260|MedGen:CN169374;DATES_ORDERED=2015-11-17|2016-11-22 -1 3102797 . G A . . START=3102797;STOP=3102797;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=423614;RCV=RCV000486085;SCV=SCV000573332;ALLELE_ID=405157;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.146G>A;HGVS_P=NP_071397.3:p.Gly49Glu;MOLECULAR_CONSEQUENCE=NM_022114.3:c.146G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_15..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-15 -1 3102851 . C T . . START=3102851;STOP=3102851;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406237;RCV=RCV000469281;SCV=SCV000544788;ALLELE_ID=391187;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.200C>T;HGVS_P=NP_071397.3:p.Pro67Leu;MOLECULAR_CONSEQUENCE=NM_022114.3:c.200C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_05..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-12-05 -1 3102852 . G A . . START=3102852;STOP=3102852;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227864;RCV=RCV000220218|RCV000228859;SCV=SCV000270754|SCV000290643;ALLELE_ID=228414;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.201G>A;HGVS_P=NP_071397.3:p.Pro67_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.201G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_24..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-08-11|2016-06-24 -1 3102998 . T C . . START=3102998;STOP=3102998;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=391742;RCV=RCV000426483;SCV=SCV000534878;ALLELE_ID=365215;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.347T>C;HGVS_P=NP_071397.3:p.Val116Ala;MOLECULAR_CONSEQUENCE=NM_022114.3:c.347T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_16..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-16 -1 3103044 . C T . . START=3103044;STOP=3103044;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227039;RCV=RCV000216479|RCV000464355;SCV=SCV000269737|SCV000556981;ALLELE_ID=228415;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.387+6C>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.387+6C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_06..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-06-10|2016-11-06 -1 3160666 . G A . . START=3160666;STOP=3160666;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432894;RCV=RCV000498621;SCV=SCV000590667;ALLELE_ID=425363;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.403G>A;HGVS_P=NP_071397.3:p.Val135Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.403G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_19..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-19 -1 3160692 . C T . . START=3160692;STOP=3160692;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227040;RCV=RCV000219941;SCV=SCV000269738;ALLELE_ID=228416;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.429C>T;HGVS_P=NP_071397.3:p.Cys143_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.429C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_24..2014;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-11-24 -1 3301712 . G T . . START=3301712;STOP=3301712;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413869;RCV=RCV000463252;SCV=SCV000556978;ALLELE_ID=391188;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.439-4G>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.439-4G>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_26..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-06-26 -1 3301721 . C T . . START=3301721;STOP=3301721;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227041;RCV=RCV000213616;SCV=SCV000269739|SCV000520304;ALLELE_ID=228417;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.444C>T;HGVS_P=NP_071397.3:p.Ser148_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.444C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_09..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-04|2016-09-09 -1 3301758 . A G . . START=3301758;STOP=3301758;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406240;RCV=RCV000475755;SCV=SCV000544792;ALLELE_ID=391170;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.481A>G;HGVS_P=NP_071397.3:p.Asn161Asp;MOLECULAR_CONSEQUENCE=NM_022114.3:c.481A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_19..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-12-19 -1 3301765 . C T . . START=3301765;STOP=3301765;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=391177;RCV=RCV000444937;SCV=SCV000534187;ALLELE_ID=365226;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.488C>T;HGVS_P=NP_071397.3:p.Ala163Val;MOLECULAR_CONSEQUENCE=NM_022114.3:c.488C>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_30..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-30 -1 3301830 . A G . . START=3301830;STOP=3301830;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=235271;RCV=RCV000224254;SCV=SCV000280726;ALLELE_ID=236958;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.553A>G;HGVS_P=NP_071397.3:p.Met185Val;MOLECULAR_CONSEQUENCE=NM_022114.3:c.553A>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_11..2016;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-01-11-06:00 -1 3301859 . G A . . START=3301859;STOP=3301859;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413864;RCV=RCV000473521;SCV=SCV000556968;ALLELE_ID=391176;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.573+9G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.573+9G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_03..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-11-03 -1 3313031 . TTCTC T . . START=3313035;STOP=3313038;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=422807;RCV=RCV000482222;SCV=SCV000572372;ALLELE_ID=405161;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.574-20_574-17delCTCT;MOLECULAR_CONSEQUENCE=NM_022114.3:c.574-20_574-17delCTCT:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_29..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-29 -1 3313108 . C T . . START=3313108;STOP=3313108;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227042;RCV=RCV000217911|RCV000470033;SCV=SCV000269740|SCV000527902|SCV000556962;ALLELE_ID=228418;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.627C>T;HGVS_P=NP_071397.3:p.His209_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.627C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_29..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-10-11|2016-12-29 -1 3313138 . A C . . START=3313138;STOP=3313138;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227872;RCV=RCV000217723;SCV=SCV000270762;ALLELE_ID=228419;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.657A>C;HGVS_P=NP_071397.3:p.Thr219_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.657A>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_01..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-01 -1 3313147 . C T . . START=3313147;STOP=3313147;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=226442;RCV=RCV000488452;SCV=SCV000270763;ALLELE_ID=228241;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.666C>T;HGVS_P=NP_071397.3:p.Pro222_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.666C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_11..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-11 -1 3319339 . G A . . START=3319339;STOP=3319339;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=381208;RCV=RCV000420246;SCV=SCV000520353;ALLELE_ID=365019;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.677-16G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.677-16G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_04..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-04 -1 3319392 . C A . . START=3319392;STOP=3319392;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227874;RCV=RCV000214448;SCV=SCV000270764;ALLELE_ID=228420;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.714C>A;HGVS_P=NP_071397.3:p.Leu238_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.714C>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_24..2014;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-11-24 -1 3319461 . C T . . START=3319461;STOP=3319461;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227043;RCV=RCV000220870|RCV000228241;SCV=SCV000528008|SCV000269741|SCV000290657;ALLELE_ID=228422;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.783C>T;HGVS_P=NP_071397.3:p.Tyr261_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.783C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_19..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-10-04|2017-01-19 -1 3319500 . C T . . START=3319500;STOP=3319500;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227875;RCV=RCV000217462;SCV=SCV000270765;ALLELE_ID=228423;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.822C>T;HGVS_P=NP_071397.3:p.Gly274_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.822C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_24..2014;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-11-24 -1 3319503 . TG T . . START=3319504;STOP=3319504;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=377306;RCV=RCV000442803;SCV=SCV000511708;ALLELE_ID=364184;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.826delG;HGVS_P=NP_071397.3:p.Gly276Alafs;MOLECULAR_CONSEQUENCE=NM_022114.3:c.826delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_07..2017;ALL_SUBMITTERS=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;SUBMITTERS_ORDERED=Center_for_Pediatric_Genomic_Medicine..Children's_Mercy_Hospital_and_Clinics;ALL_TRAITS=not_provided|not_provided;ALL_PMIDS=25741868;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2017-02-07-06:00 -1 3319545 . G A . . START=3319545;STOP=3319545;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229169;RCV=RCV000223395;SCV=SCV000272333;ALLELE_ID=228425;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.867G>A;HGVS_P=NP_071397.3:p.Met289Ile;MOLECULAR_CONSEQUENCE=NM_022114.3:c.867G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_14..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-14 -1 3319550 . C T . . START=3319550;STOP=3319550;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60728;RCV=RCV000054522;SCV=SCV000083000;ALLELE_ID=75288;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.872C>T;HGVS_P=NP_071397.3:p.Pro291Leu;MOLECULAR_CONSEQUENCE=NM_022114.3:c.872C>T:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_11..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dilated_cardiomyopathy_1LL|CARDIOMYOPATHY..DILATED..1LL;ALL_PMIDS=23768516;ORIGIN=germline;XREFS=MedGen:CN178850|OMIM:615373;DATES_ORDERED=2013-07-11 -1 3321298 . C T . . START=3321298;STOP=3321298;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=391408;RCV=RCV000431911;SCV=SCV000534475;ALLELE_ID=365024;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.885-5C>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.885-5C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_05..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-05 -1 3321299 . G A . . START=3321299;STOP=3321299;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413870;RCV=RCV000457740;SCV=SCV000556980;ALLELE_ID=391323;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.885-4G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.885-4G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_31..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-03-31 -1 3322049 . G A . . START=3322049;STOP=3322049;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413861;RCV=RCV000466116;SCV=SCV000556961;ALLELE_ID=391327;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1033-10G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1033-10G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_20..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-09-20 -1 3322051 . C T . . START=3322051;STOP=3322051;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413872;RCV=RCV000465432;SCV=SCV000556984;ALLELE_ID=391224;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1033-8C>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1033-8C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_04..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-04-04 -1 3322097 . C T . . START=3322097;STOP=3322097;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=221025;RCV=RCV000204192|RCV000220538;SCV=SCV000262104|SCV000533008|SCV000269718;ALLELE_ID=221095;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1071C>T;HGVS_P=NP_071397.3:p.Arg357_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1071C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_12..2017;ALL_SUBMITTERS=Invitae..|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Invitae..|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=Left_ventricular_noncompaction_8|not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260|MedGen:CN169374;DATES_ORDERED=2017-01-12|2014-11-24|2016-11-16 -1 3322107 . G A . . START=3322107;STOP=3322107;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229155;RCV=RCV000213682;SCV=SCV000272319;ALLELE_ID=228426;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1081G>A;HGVS_P=NP_071397.3:p.Val361Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1081G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_08..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-08 -1 3322119 . G T . . START=3322119;STOP=3322119;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229156;RCV=RCV000216650;SCV=SCV000272320;ALLELE_ID=228427;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1093G>T;HGVS_P=NP_071397.3:p.Ala365Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1093G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_28..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-05-28 -1 3322139 . C T . . START=3322139;STOP=3322139;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227022;RCV=RCV000214207|RCV000475757;SCV=SCV000269719|SCV000525690|SCV000556971;ALLELE_ID=228429;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1113C>T;HGVS_P=NP_071397.3:p.Cys371_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1113C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_10..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-09-30|2017-01-10 -1 3322142 . G A . . START=3322142;STOP=3322142;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227858;RCV=RCV000219433;SCV=SCV000535019|SCV000270748;ALLELE_ID=228428;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1116G>A;HGVS_P=NP_071397.3:p.Gly372_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1116G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Dec_20..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-06-10|2016-12-20 -1 3322160 . C G . . START=3322160;STOP=3322160;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227859;RCV=RCV000222431|RCV000463379;SCV=SCV000534351|SCV000270749|SCV000556958;ALLELE_ID=228430;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1134C>G;HGVS_P=NP_071397.3:p.Ser378_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1134C>G:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_28..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-03-24|2016-11-28|2016-06-21 -1 3327938 . G C . . START=3327938;STOP=3327938;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229157;RCV=RCV000221026;SCV=SCV000272321;ALLELE_ID=228431;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1187-10G>C;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1187-10G>C:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_26..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-05-26 -1 3327973 . G A . . START=3327973;STOP=3327973;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227023;RCV=RCV000217174|RCV000230341;SCV=SCV000531906|SCV000269720|SCV000290638;ALLELE_ID=228432;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1212G>A;HGVS_P=NP_071397.3:p.Thr404_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1212G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_12..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2017-01-12|2017-01-04 -1 3328086 . G A . . START=3328086;STOP=3328086;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373356;RCV=RCV000414577;SCV=SCV000491943;ALLELE_ID=359261;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1325G>A;HGVS_P=NP_071397.3:p.Arg442Gln;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1325G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-21 -1 3328089 . G A . . START=3328089;STOP=3328089;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432618;RCV=RCV000497461;SCV=SCV000590367;ALLELE_ID=425364;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1328G>A;HGVS_P=NP_071397.3:p.Arg443His;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1328G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_09..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-09 -1 3328124 . G A . . START=3328124;STOP=3328124;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227860;RCV=RCV000214839;SCV=SCV000270750;ALLELE_ID=228433;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1363G>A;HGVS_P=NP_071397.3:p.Gly455Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1363G>A:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_24..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-11-24 -1 3328154 . C G . . START=3328154;STOP=3328154;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406236;RCV=RCV000459138;SCV=SCV000544787;ALLELE_ID=391328;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1393C>G;HGVS_P=NP_071397.3:p.Pro465Ala;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1393C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_13..2017;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2017-01-13 -1 3328187 . C T . . START=3328187;STOP=3328187;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227024;RCV=RCV000221460|RCV000474106;SCV=SCV000269721|SCV000556965;ALLELE_ID=228435;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1426C>T;HGVS_P=NP_071397.3:p.Pro476Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1426C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_12..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-09-12 -1 3328219 . CG C . . START=3328220;STOP=3328220;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=426516;RCV=RCV000489128;SCV=SCV000576978;ALLELE_ID=414793;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1459delG;HGVS_P=NP_071397.3:p.Glu487Serfs;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1459delG:frameshift_variant;CLINICAL_SIGNIFICANCE=Likely_pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=likely_pathogenic;PATHOGENIC=0;LIKELY_PATHOGENIC=1;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_13..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2017-04-13 -1 3328246 . G A . . START=3328246;STOP=3328246;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406234;RCV=RCV000464362;SCV=SCV000544785;ALLELE_ID=391330;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1485G>A;HGVS_P=NP_071397.3:p.Pro495_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1485G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_06..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-11-06 -1 3328279 . G A . . START=3328279;STOP=3328279;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227025;RCV=RCV000214308|RCV000461808;SCV=SCV000532874|SCV000269722|SCV000556955;ALLELE_ID=228434;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1518G>A;HGVS_P=NP_071397.3:p.Thr506_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1518G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-12-07|2017-01-18 -1 3328298 . G A . . START=3328298;STOP=3328298;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241421;RCV=RCV000228195;SCV=SCV000290640;ALLELE_ID=238269;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1537G>A;HGVS_P=NP_071397.3:p.Gly513Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1537G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_28..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-03-28 -1 3328306 . G A . . START=3328306;STOP=3328306;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413859;RCV=RCV000477564;SCV=SCV000556957;ALLELE_ID=391189;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1545G>A;HGVS_P=NP_071397.3:p.Pro515_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1545G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_03..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-11-03 -1 3328329 . A AC . . START=3328334;STOP=3328334;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=280120;RCV=RCV000365162;SCV=SCV000329980;ALLELE_ID=264033;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1573dupC;HGVS_P=NP_071397.3:p.Arg525Profs;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1573dupC:frameshift_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_08..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_provided|Not_Provided;ORIGIN=germline;XREFS=MedGen:CN221809;DATES_ORDERED=2016-02-08 -1 3328335 . G A . . START=3328335;STOP=3328335;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229158;RCV=RCV000213365;SCV=SCV000272322;ALLELE_ID=228436;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1574G>A;HGVS_P=NP_071397.3:p.Arg525Gln;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1574G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_26..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-01-26 -1 3328339 . G A . . START=3328339;STOP=3328339;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227861;RCV=RCV000219165|RCV000470998;SCV=SCV000270751|SCV000556982;ALLELE_ID=228437;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1578G>A;HGVS_P=NP_071397.3:p.Pro526_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1578G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_18..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-01-22|2016-10-18 -1 3328358 . T C . . START=3328358;STOP=3328358;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227026;RCV=RCV000217271;SCV=SCV000520301|SCV000269723;ALLELE_ID=228438;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1597T>C;HGVS_P=NP_071397.3:p.Ser533Pro;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1597T>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_09..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-04|2016-09-09 -1 3328360 . G A . . START=3328360;STOP=3328360;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413858;RCV=RCV000471293;SCV=SCV000556956;ALLELE_ID=391333;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1599G>A;HGVS_P=NP_071397.3:p.Ser533_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1599G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_03..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-08-03 -1 3328393 . C T . . START=3328393;STOP=3328393;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241422;RCV=RCV000232157;SCV=SCV000290641;ALLELE_ID=238270;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1632C>T;HGVS_P=NP_071397.3:p.Asp544_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1632C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_26..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-02-26 -1 3328445 . G A . . START=3328445;STOP=3328445;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227862;RCV=RCV000223463|RCV000459912;SCV=SCV000530370|SCV000270752|SCV000556986;ALLELE_ID=228439;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1684G>A;HGVS_P=NP_071397.3:p.Val562Ile;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1684G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_27..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2017-06-27|2016-11-03 -1 3328467 . C T . . START=3328467;STOP=3328467;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=426420;RCV=RCV000489145;SCV=SCV000576855;ALLELE_ID=414794;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1706C>T;HGVS_P=NP_071397.3:p.Thr569Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1706C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_17..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-04-17 -1 3328480 . G A . . START=3328480;STOP=3328480;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241423;RCV=RCV000225997;SCV=SCV000290642;ALLELE_ID=238271;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1719G>A;HGVS_P=NP_071397.3:p.Ala573_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1719G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_13..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-03-13 -1 3328487 . G A . . START=3328487;STOP=3328487;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=430198;RCV=RCV000494613;SCV=SCV000582941;ALLELE_ID=421241;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1726G>A;HGVS_P=NP_071397.3:p.Glu576Lys;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1726G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_19..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-05-19 -1 3328558 . G A . . START=3328558;STOP=3328558;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390967;RCV=RCV000440662;SCV=SCV000533929;ALLELE_ID=365233;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1797G>A;HGVS_P=NP_071397.3:p.Ser599_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1797G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_18..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-18 -1 3328611 . C T . . START=3328611;STOP=3328611;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432644;RCV=RCV000498119;SCV=SCV000590394;ALLELE_ID=425365;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1850C>T;HGVS_P=NP_071397.3:p.Thr617Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1850C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_13..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-06-13 -1 3328638 . A T . . START=3328638;STOP=3328638;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229159;RCV=RCV000217585;SCV=SCV000272323;ALLELE_ID=228441;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1877A>T;HGVS_P=NP_071397.3:p.Asp626Val;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1877A>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_26..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-01-26 -1 3328643 . G A . . START=3328643;STOP=3328643;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406247;RCV=RCV000466162;SCV=SCV000544799;ALLELE_ID=391230;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1882G>A;HGVS_P=NP_071397.3:p.Asp628Asn;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1882G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-07-15 -1 3328659 . C T . . START=3328659;STOP=3328659;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227027;RCV=RCV000221571;SCV=SCV000269724|SCV000520305;ALLELE_ID=228440;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1898C>T;HGVS_P=NP_071397.3:p.Pro633Leu;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1898C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_23..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-04|2016-09-23 -1 3328691 . G A . . START=3328691;STOP=3328691;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392339;RCV=RCV000431315;SCV=SCV000535594;ALLELE_ID=365026;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1930G>A;HGVS_P=NP_071397.3:p.Glu644Lys;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1930G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_05..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-05 -1 3328723 . G A . . START=3328723;STOP=3328723;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413863;RCV=RCV000458957;SCV=SCV000556966;ALLELE_ID=391179;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1962G>A;HGVS_P=NP_071397.3:p.Ala654_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1962G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_31..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-07-31 -1 3328726 . C A . . START=3328726;STOP=3328726;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=391905;RCV=RCV000441266;SCV=SCV000535074;ALLELE_ID=365030;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1965C>A;HGVS_P=NP_071397.3:p.Pro655_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1965C>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_19..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-19 -1 3328733 . G C . . START=3328733;STOP=3328733;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406241;RCV=RCV000462349;SCV=SCV000544793;ALLELE_ID=391192;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1972G>C;HGVS_P=NP_071397.3:p.Ala658Pro;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1972G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_10..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-07-10 -1 3328738 . G A . . START=3328738;STOP=3328738;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227863;RCV=RCV000215898;SCV=SCV000270753;ALLELE_ID=228442;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.1977G>A;HGVS_P=NP_071397.3:p.Pro659_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.1977G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_11..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-11 -1 3328798 . C T . . START=3328798;STOP=3328798;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413865;RCV=RCV000461094;SCV=SCV000556972;ALLELE_ID=391334;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2037C>T;HGVS_P=NP_071397.3:p.Asp679_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2037C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_30..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-12-30 -1 3328821 . G C . . START=3328821;STOP=3328821;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229160;RCV=RCV000221873;SCV=SCV000272324;ALLELE_ID=228443;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2060G>C;HGVS_P=NP_071397.3:p.Gly687Ala;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2060G>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_22..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-22 -1 3328850 . G T . . START=3328850;STOP=3328850;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229161;RCV=RCV000214303;SCV=SCV000272325;ALLELE_ID=228444;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2089G>T;HGVS_P=NP_071397.3:p.Ala697Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2089G>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_22..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-22 -1 3328852 . A T . . START=3328852;STOP=3328852;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227028;RCV=RCV000215257|RCV000470201;SCV=SCV000269725|SCV000556959;ALLELE_ID=228445;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2091A>T;HGVS_P=NP_071397.3:p.Ala697_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2091A>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_27..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-12-27 -1 3328861 . C T . . START=3328861;STOP=3328861;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=220733;RCV=RCV000204005;SCV=SCV000261518;ALLELE_ID=221096;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2100C>T;HGVS_P=NP_071397.3:p.Ala700_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2100C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_25..2015;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-11-25 -1 3328865 . A T . . START=3328865;STOP=3328865;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60724;RCV=RCV000054518;SCV=SCV000082996;ALLELE_ID=75284;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2104A>T;HGVS_P=NP_071397.3:p.Lys702Ter;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2104A>T:nonsense;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_11..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Left_ventricular_noncompaction_8|LEFT_VENTRICULAR_NONCOMPACTION_8;ALL_PMIDS=23768516;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2013-07-11 -1 3328887 . T C . . START=3328887;STOP=3328887;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=426184;RCV=RCV000489210;SCV=SCV000576566;ALLELE_ID=414795;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2126T>C;HGVS_P=NP_071397.3:p.Met709Thr;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2126T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_27..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-04-27 -1 3328891 . G A . . START=3328891;STOP=3328891;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241424;RCV=RCV000232265;SCV=SCV000290644;ALLELE_ID=238272;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2130G>A;HGVS_P=NP_071397.3:p.Gly710_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2130G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_29..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-03-29 -1 3328903 . G A . . START=3328903;STOP=3328903;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413867;RCV=RCV000462221;SCV=SCV000556975;ALLELE_ID=391195;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2142G>A;HGVS_P=NP_071397.3:p.Lys714_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2142G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_28..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-05-28 -1 3328933 . G A . . START=3328933;STOP=3328933;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=391055;RCV=RCV000418130;SCV=SCV000534030;ALLELE_ID=365033;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2172G>A;HGVS_P=NP_071397.3:p.Ala724_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2172G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-21 -1 3329042 . G A . . START=3329042;STOP=3329042;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406239;RCV=RCV000461410;SCV=SCV000544790;ALLELE_ID=391197;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2281G>A;HGVS_P=NP_071397.3:p.Ala761Thr;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2281G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_14..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-06-14 -1 3329051 . G A . . START=3329051;STOP=3329051;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229162;RCV=RCV000217269|RCV000226109;SCV=SCV000272326|SCV000530498|SCV000290645;ALLELE_ID=228446;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2290G>A;HGVS_P=NP_071397.3:p.Val764Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2290G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_12..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-10-20|2016-12-12|2016-10-18 -1 3329140 . G A . . START=3329140;STOP=3329140;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413873;RCV=RCV000473649;SCV=SCV000556985;ALLELE_ID=391232;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2379G>A;HGVS_P=NP_071397.3:p.Ser793_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2379G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_25..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-12-25 -1 3329147 . G A . . START=3329147;STOP=3329147;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=424068;RCV=RCV000478115;SCV=SCV000573845;ALLELE_ID=405162;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2386G>A;HGVS_P=NP_071397.3:p.Ala796Thr;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2386G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_10..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-03-10 -1 3329167 . G A . . START=3329167;STOP=3329167;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390010;RCV=RCV000438891;SCV=SCV000532721;ALLELE_ID=365036;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2406G>A;HGVS_P=NP_071397.3:p.Pro802_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2406G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_14..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-14 -1 3329195 . C T . . START=3329195;STOP=3329195;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229163;RCV=RCV000221476;SCV=SCV000272327;ALLELE_ID=228447;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2434C>T;HGVS_P=NP_071397.3:p.Arg812Cys;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2434C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_02..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-02 -1 3329204 . C T . . START=3329204;STOP=3329204;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406222;RCV=RCV000468700;SCV=SCV000544765;ALLELE_ID=391182;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2443C>T;HGVS_P=NP_071397.3:p.Gln815Ter;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2443C>T:nonsense;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_24..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-04-24 -1 3329208 . A G . . START=3329208;STOP=3329208;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60726;RCV=RCV000054520;SCV=SCV000082998;ALLELE_ID=75286;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2447A>G;HGVS_P=NP_071397.3:p.Asn816Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2447A>G:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_11..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Left_ventricular_noncompaction_8|LEFT_VENTRICULAR_NONCOMPACTION_8;ALL_PMIDS=23768516;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2013-07-11 -1 3329209 . C T . . START=3329209;STOP=3329209;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=388234;RCV=RCV000421212|RCV000471531;SCV=SCV000530495|SCV000556976;ALLELE_ID=365129;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2448C>T;HGVS_P=NP_071397.3:p.Asn816_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2448C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_24..2017;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2017-04-24|2016-10-09 -1 3329210 . G A . . START=3329210;STOP=3329210;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241425;RCV=RCV000230075;SCV=SCV000290646;ALLELE_ID=238273;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2449G>A;HGVS_P=NP_071397.3:p.Gly817Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2449G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_15..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-02-15 -1 3329213 . G A . . START=3329213;STOP=3329213;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241426;RCV=RCV000232966|RCV000418666;SCV=SCV000290647|SCV000532573;ALLELE_ID=238274;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2452G>A;HGVS_P=NP_071397.3:p.Gly818Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2452G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_16..2017;ALL_SUBMITTERS=Invitae..|GeneDx;SUBMITTERS_ORDERED=Invitae..|GeneDx;ALL_TRAITS=Left_ventricular_noncompaction_8|not_specified;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260|MedGen:CN169374;DATES_ORDERED=2017-01-16|2016-10-11 -1 3329228 . C T . . START=3329228;STOP=3329228;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406245;RCV=RCV000471354;SCV=SCV000544797;ALLELE_ID=391233;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2467C>T;HGVS_P=NP_071397.3:p.Arg823Cys;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2467C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_07..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-11-07 -1 3329229 . G C . . START=3329229;STOP=3329229;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227865;RCV=RCV000223185|RCV000226799;SCV=SCV000533889|SCV000270755|SCV000290648;ALLELE_ID=228448;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2468G>C;HGVS_P=NP_071397.3:p.Arg823Pro;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2468G>C:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_26..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266|26350513;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-01-13|2017-05-26|2017-01-04 -1 3329263 . C T . . START=3329263;STOP=3329263;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227029;RCV=RCV000219694;SCV=SCV000269726|SCV000520302;ALLELE_ID=228449;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2502C>T;HGVS_P=NP_071397.3:p.Gly834_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2502C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_06..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-11|2016-10-06 -1 3329267 . G A . . START=3329267;STOP=3329267;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227030;RCV=RCV000221333|RCV000469328;SCV=SCV000269727|SCV000556970;ALLELE_ID=228450;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2506G>A;HGVS_P=NP_071397.3:p.Gly836Ser;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2506G>A:missense_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_12..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-09-12 -1 3329297 . C T . . START=3329297;STOP=3329297;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406238;RCV=RCV000476374;SCV=SCV000544789;ALLELE_ID=391237;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2536C>T;HGVS_P=NP_071397.3:p.Arg846Trp;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2536C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_03..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-11-03 -1 3329337 . C T . . START=3329337;STOP=3329337;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229164;RCV=RCV000215161|RCV000468206;SCV=SCV000492137|SCV000272328|SCV000544791;ALLELE_ID=228451;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2576C>T;HGVS_P=NP_071397.3:p.Ser859Leu;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2576C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=3;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_28..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-06-10|2016-11-28|2016-04-07 -1 3329384 . C T . . START=3329384;STOP=3329384;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=381194;RCV=RCV000433986;SCV=SCV000520306;ALLELE_ID=365234;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2603+20C>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2603+20C>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_23..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-23 -1 3331154 . C T . . START=3331154;STOP=3331154;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227866;RCV=RCV000216924|RCV000469880;SCV=SCV000530820|SCV000270756|SCV000556979;ALLELE_ID=228452;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2634C>T;HGVS_P=NP_071397.3:p.Pro878_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2634C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_25..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-10-22|2017-04-25|2017-01-10 -1 3331155 . G A . . START=3331155;STOP=3331155;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=432243;RCV=RCV000498032;SCV=SCV000589953;ALLELE_ID=425366;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2635G>A;HGVS_P=NP_071397.3:p.Val879Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2635G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_05..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-03-05 -1 3331166 . G A . . START=3331166;STOP=3331166;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413866;RCV=RCV000467739;SCV=SCV000556973;ALLELE_ID=391194;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2646G>A;HGVS_P=NP_071397.3:p.Leu882_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2646G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-10-26 -1 3331180 . T C . . START=3331180;STOP=3331180;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60729;RCV=RCV000054523;SCV=SCV000083001;ALLELE_ID=75289;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2660T>C;HGVS_P=NP_071397.3:p.Leu887Pro;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2660T>C:missense_variant;CLINICAL_SIGNIFICANCE=Pathogenic;CLINICAL_SIGNIFICANCE_ORDERED=pathogenic;PATHOGENIC=1;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=no_assertion_criteria_provided;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided;LAST_EVALUATED=Jul_11..2013;ALL_SUBMITTERS=OMIM;SUBMITTERS_ORDERED=OMIM;ALL_TRAITS=Dilated_cardiomyopathy_1LL|CARDIOMYOPATHY..DILATED..1LL;ALL_PMIDS=23768516;ORIGIN=germline;XREFS=MedGen:CN178850|OMIM:615373;DATES_ORDERED=2013-07-11 -1 3331193 . G A . . START=3331193;STOP=3331193;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227031;RCV=RCV000215017|RCV000475588;SCV=SCV000525688|SCV000269728|SCV000556954;ALLELE_ID=228453;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2673G>A;HGVS_P=NP_071397.3:p.Pro891_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2673G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_23..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-10-11|2016-10-23 -1 3331216 . G A . . START=3331216;STOP=3331216;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390179;RCV=RCV000437038;SCV=SCV000532947;ALLELE_ID=365238;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2691+5G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2691+5G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-21 -1 3334382 . A G . . START=3334382;STOP=3334382;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390108;RCV=RCV000434063|RCV000457891;SCV=SCV000532849|SCV000556963;ALLELE_ID=365235;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2692-10A>G;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2692-10A>G:intron_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_19..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-10-19|2016-06-21 -1 3334441 . T C . . START=3334441;STOP=3334441;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241427;RCV=RCV000229654|RCV000493075;SCV=SCV000290649|SCV000582942;ALLELE_ID=238275;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2741T>C;HGVS_P=NP_071397.3:p.Met914Thr;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2741T>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_14..2016;ALL_SUBMITTERS=Invitae..|GeneDx;SUBMITTERS_ORDERED=Invitae..|GeneDx;ALL_TRAITS=Left_ventricular_noncompaction_8|not_specified;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260|MedGen:CN169374;DATES_ORDERED=2015-12-17|2016-12-14 -1 3334447 . C T . . START=3334447;STOP=3334447;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=218791;RCV=RCV000203205;SCV=SCV000258183;ALLELE_ID=215209;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2747C>T;HGVS_P=NP_071397.3:p.Ala916Val;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2747C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_12..2015;ALL_SUBMITTERS=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;SUBMITTERS_ORDERED=Division_of_Genomic_Diagnostics..The_Children's_Hospital_of_Philadelphia;ALL_TRAITS=not_specified|Not_specified;ORIGIN=unknown;XREFS=MedGen:CN169374;DATES_ORDERED=2015-04-12 -1 3334480 . A C . . START=3334480;STOP=3334480;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373755;RCV=RCV000413206;SCV=SCV000492376;ALLELE_ID=359242;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2780A>C;HGVS_P=NP_071397.3:p.His927Pro;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2780A>C:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_09..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-12-09 -1 3334486 . C A . . START=3334486;STOP=3334486;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229165;RCV=RCV000219521;SCV=SCV000577100|SCV000272329;ALLELE_ID=228454;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2786C>A;HGVS_P=NP_071397.3:p.Pro929His;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2786C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=2;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Apr_11..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-21|2017-04-11 -1 3334493 . C T . . START=3334493;STOP=3334493;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227032;RCV=RCV000219295|RCV000233639;SCV=SCV000531702|SCV000269729|SCV000290650;ALLELE_ID=228455;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2793C>T;HGVS_P=NP_071397.3:p.Asn931_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2793C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-10-10|2017-01-18 -1 3334505 . A ACC . . START=3334509;STOP=3334510;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229166;RCV=RCV000221072;SCV=SCV000272330;ALLELE_ID=228456;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2809_2810dupCC;HGVS_P=NP_071397.3:p.Thr938Glnfs;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2809_2810dupCC:frameshift_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_02..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-03-02 -1 3334509 . C G . . START=3334509;STOP=3334509;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406243;RCV=RCV000475724;SCV=SCV000544795;ALLELE_ID=391199;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2809C>G;HGVS_P=NP_071397.3:p.Pro937Ala;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2809C>G:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_30..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-11-30 -1 3334513 . C T . . START=3334513;STOP=3334513;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406242;RCV=RCV000471782;SCV=SCV000544794;ALLELE_ID=391196;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2813C>T;HGVS_P=NP_071397.3:p.Thr938Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2813C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_02..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-08-02 -1 3334515 . C G . . START=3334515;STOP=3334515;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373801;RCV=RCV000414615|RCV000474992;SCV=SCV000492424|SCV000556974;ALLELE_ID=359349;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2815C>G;HGVS_P=NP_071397.3:p.Leu939Val;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2815C>G:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_14..2016;ALL_SUBMITTERS=GeneDx|Invitae..;SUBMITTERS_ORDERED=GeneDx|Invitae..;ALL_TRAITS=not_specified|Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-12-14|2016-05-22 -1 3334556 . G A . . START=3334556;STOP=3334556;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227867;RCV=RCV000219939;SCV=SCV000270757;ALLELE_ID=228457;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2856G>A;HGVS_P=NP_071397.3:p.Thr952_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2856G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_21..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-21 -1 3342127 . C T . . START=3342127;STOP=3342127;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=392369;RCV=RCV000419766;SCV=SCV000535630;ALLELE_ID=365132;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2940-18C>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2940-18C>T:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_05..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-01-05 -1 3342128 . G A . . START=3342128;STOP=3342128;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=386315;RCV=RCV000441639;SCV=SCV000527895;ALLELE_ID=365137;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2940-17G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2940-17G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=1;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Sep_28..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-09-28 -1 3342130 . G A . . START=3342130;STOP=3342130;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=229167;RCV=RCV000214743;SCV=SCV000272331;ALLELE_ID=228458;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2940-15G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2940-15G>A:intron_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_23..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-23 -1 3342158 . G A . . START=3342158;STOP=3342158;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=373270;RCV=RCV000413640;SCV=SCV000491853;ALLELE_ID=359356;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.2953G>A;HGVS_P=NP_071397.3:p.Asp985Asn;MOLECULAR_CONSEQUENCE=NM_022114.3:c.2953G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_21..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-11-21 -1 3342307 . C T . . START=3342307;STOP=3342307;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241428;RCV=RCV000226908|RCV000444388;SCV=SCV000290651|SCV000521409;ALLELE_ID=238276;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3102C>T;HGVS_P=NP_071397.3:p.Asn1034_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3102C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jun_23..2017;ALL_SUBMITTERS=Invitae..|GeneDx;SUBMITTERS_ORDERED=Invitae..|GeneDx;ALL_TRAITS=Left_ventricular_noncompaction_8|not_specified;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260|MedGen:CN169374;DATES_ORDERED=2016-10-08|2017-06-23 -1 3342324 . G A . . START=3342324;STOP=3342324;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227033;RCV=RCV000223403|RCV000460045;SCV=SCV000269730|SCV000529354|SCV000556969;ALLELE_ID=228459;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3109+10G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3109+10G>A:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jan_18..2017;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-12-05|2017-01-18 -1 3342326 . G C . . START=3342326;STOP=3342326;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227868;RCV=RCV000213653;SCV=SCV000270758|SCV000525750;ALLELE_ID=228460;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3109+12G>C;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3109+12G>C:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Oct_27..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-07-08|2016-10-27 -1 3342611 . G A . . START=3342611;STOP=3342611;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227869;RCV=RCV000217996|RCV000465584;SCV=SCV000270759|SCV000556967;ALLELE_ID=228461;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3110-4G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3110-4G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=2;BENIGN=0;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Jul_15..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-04-16|2016-07-15 -1 3342629 . G A . . START=3342629;STOP=3342629;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=426514;RCV=RCV000490016;SCV=SCV000576974;ALLELE_ID=414796;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3124G>A;HGVS_P=NP_071397.3:p.Gly1042Arg;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3124G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Apr_13..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-04-13 -1 3342634 . C T . . START=3342634;STOP=3342634;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241429;RCV=RCV000230873;SCV=SCV000290652;ALLELE_ID=238277;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3129C>T;HGVS_P=NP_071397.3:p.Val1043_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3129C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_25..2015;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2015-11-25 -1 3342635 . C T . . START=3342635;STOP=3342635;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227034;RCV=RCV000215790|RCV000232612;SCV=SCV000269731|SCV000528022|SCV000290653;ALLELE_ID=228462;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3130C>T;HGVS_P=NP_071397.3:p.Leu1044Phe;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3130C>T:missense_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_27..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-12-27|2016-04-16 -1 3342640 . G A . . START=3342640;STOP=3342640;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227870;RCV=RCV000220998;SCV=SCV000270760;ALLELE_ID=228463;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3135G>A;HGVS_P=NP_071397.3:p.Thr1045_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3135G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=May_06..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-05-06 -1 3342644 . C A . . START=3342644;STOP=3342644;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=423292;RCV=RCV000486279;SCV=SCV000572969;ALLELE_ID=405163;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3139C>A;HGVS_P=NP_071397.3:p.His1047Asn;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3139C>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_06..2017;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2017-02-06 -1 3342774 . C T . . START=3342774;STOP=3342774;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241430;RCV=RCV000227583;SCV=SCV000290654;ALLELE_ID=238278;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3269C>T;HGVS_P=NP_071397.3:p.Thr1090Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3269C>T:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Mar_12..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-03-12 -1 3342775 . G A . . START=3342775;STOP=3342775;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413871;RCV=RCV000458810;SCV=SCV000556983;ALLELE_ID=391340;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3270G>A;HGVS_P=NP_071397.3:p.Thr1090_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3270G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_26..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-10-26 -1 3342804 . G T . . START=3342804;STOP=3342804;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227035;RCV=RCV000218772;SCV=SCV000520303|SCV000269732;ALLELE_ID=228464;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3284+15G>T;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3284+15G>T:intron_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Sep_23..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-03-04|2016-09-23 -1 3347452 . G A . . START=3347452;STOP=3347452;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=60727;RCV=RCV000054521|RCV000204421|RCV000223010;SCV=SCV000082999|SCV000262005|SCV000269733;ALLELE_ID=75287;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3301G>A;HGVS_P=NP_071397.3:p.Val1101Met;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3301G>A:missense_variant;CLINICAL_SIGNIFICANCE=Conflicting_interpretations_of_pathogenicity;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance|benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=2;REVIEW_STATUS=criteria_provided..conflicting_interpretations;REVIEW_STATUS_ORDERED=no_assertion_criteria_provided|criteria_provided..single_submitter;LAST_EVALUATED=Dec_02..2016;ALL_SUBMITTERS=OMIM|Invitae..|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=OMIM|Invitae..|Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=Dilated_cardiomyopathy_1LL|RECLASSIFIED_-_VARIANT_OF_UNKNOWN_SIGNIFICANCE|Left_ventricular_noncompaction_8|not_specified|Not_specified;ALL_PMIDS=23768516|27535533|24033266;ORIGIN=germline;XREFS=MedGen:CN178850|OMIM:615373|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|Orphanet:154|Orphanet:54260|MedGen:CN169374;DATES_ORDERED=2013-07-11|2015-10-31|2015-04-29 -1 3347514 . G GGAC . . START=3347520;STOP=3347522;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413868;RCV=RCV000475206;SCV=SCV000556977;ALLELE_ID=391341;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3369_3371dupCGA;HGVS_P=NP_071397.3:p.Asp1125_Leu1126insAsp;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Dec_14..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-12-14 -1 3347517 . C T . . START=3347517;STOP=3347517;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227871;RCV=RCV000213381;SCV=SCV000270761;ALLELE_ID=228465;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3366C>T;HGVS_P=NP_071397.3:p.Asp1122_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3366C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_13..2015;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine;ALL_TRAITS=not_specified|Not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2015-08-13 -1 3347520 . C T . . START=3347520;STOP=3347520;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227036;RCV=RCV000216881|RCV000230406;SCV=SCV000529327|SCV000269734|SCV000290655;ALLELE_ID=228466;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3369C>T;HGVS_P=NP_071397.3:p.Asp1123_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3369C>T:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign;CLINICAL_SIGNIFICANCE_ORDERED=benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=0;BENIGN=3;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_06..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx|Invitae..;ALL_TRAITS=not_specified|Not_specified|Left_ventricular_noncompaction_8;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374|Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2014-11-24|2016-10-06|2016-09-16 -1 3347593 . G A . . START=3347593;STOP=3347593;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406233;RCV=RCV000460254;SCV=SCV000544784;ALLELE_ID=391240;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3442G>A;HGVS_P=NP_071397.3:p.Glu1148Lys;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3442G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Nov_18..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-11-18 -1 3347595 . G A . . START=3347595;STOP=3347595;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=413862;RCV=RCV000464489;SCV=SCV000556964;ALLELE_ID=391206;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3444G>A;HGVS_P=NP_071397.3:p.Glu1148_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3444G>A:synonymous_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_30..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-08-30 -1 3347605 . G A . . START=3347605;STOP=3347605;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=406235;RCV=RCV000473925;SCV=SCV000544786;ALLELE_ID=391207;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3454G>A;HGVS_P=NP_071397.3:p.Ala1152Thr;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3454G>A:missense_variant;CLINICAL_SIGNIFICANCE=Uncertain_significance;CLINICAL_SIGNIFICANCE_ORDERED=uncertain_significance;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=1;LIKELY_BENIGN=0;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Aug_16..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-08-16 -1 3348629 . A T . . START=3348629;STOP=3348629;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=241431;RCV=RCV000234393;SCV=SCV000290656;ALLELE_ID=238279;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3621A>T;HGVS_P=NP_071397.3:p.Glu1207Asp;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3621A>T:missense_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Feb_24..2016;ALL_SUBMITTERS=Invitae..;SUBMITTERS_ORDERED=Invitae..;ALL_TRAITS=Left_ventricular_noncompaction_8;ORIGIN=germline;XREFS=Genetics_Home_Reference:left-ventricular-noncompaction|MedGen:C3809288|OMIM:615373|Orphanet:154|Orphanet:54260;DATES_ORDERED=2016-02-24 -1 3348695 . T C . . START=3348695;STOP=3348695;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=227037;RCV=RCV000219826;SCV=SCV000269735|SCV000533646;ALLELE_ID=228467;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3687T>C;HGVS_P=NP_071397.3:p.Ala1229_eq_;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3687T>C:synonymous_variant;CLINICAL_SIGNIFICANCE=Benign/Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=benign|likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=1;REVIEW_STATUS=criteria_provided..multiple_submitters..no_conflicts;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter|criteria_provided..single_submitter;LAST_EVALUATED=Nov_11..2016;ALL_SUBMITTERS=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;SUBMITTERS_ORDERED=Laboratory_for_Molecular_Medicine..Partners_HealthCare_Personalized_Medicine|GeneDx;ALL_TRAITS=not_specified|Not_specified|not_specified;ALL_PMIDS=24033266;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2014-11-24|2016-11-11 -1 3348715 . G A . . START=3348715;STOP=3348715;STRAND=+;VARIATION_TYPE=Variant;VARIATION_ID=390334;RCV=RCV000438994;SCV=SCV000533136;ALLELE_ID=365138;SYMBOL=PRDM16;HGVS_C=NM_022114.3:c.3696+11G>A;MOLECULAR_CONSEQUENCE=NM_022114.3:c.3696+11G>A:intron_variant;CLINICAL_SIGNIFICANCE=Likely_benign;CLINICAL_SIGNIFICANCE_ORDERED=likely_benign;PATHOGENIC=0;LIKELY_PATHOGENIC=0;UNCERTAIN_SIGNIFICANCE=0;LIKELY_BENIGN=1;BENIGN=0;REVIEW_STATUS=criteria_provided..single_submitter;REVIEW_STATUS_ORDERED=criteria_provided..single_submitter;LAST_EVALUATED=Oct_25..2016;ALL_SUBMITTERS=GeneDx;SUBMITTERS_ORDERED=GeneDx;ALL_TRAITS=not_specified|not_specified;ORIGIN=germline;XREFS=MedGen:CN169374;DATES_ORDERED=2016-10-25 diff --git a/output/b37/single/clinvar_alleles_stats.single.b37.txt b/output/b37/single/clinvar_alleles_stats.single.b37.txt index a4083a0..7341443 100644 --- a/output/b37/single/clinvar_alleles_stats.single.b37.txt +++ b/output/b37/single/clinvar_alleles_stats.single.b37.txt @@ -1,164 +1,163 @@ Columns: 1: chrom, 2: pos, 3: ref, 4: alt, 5: start, 6: stop, 7: strand, 8: variation_type, 9: variation_id, 10: rcv, 11: scv, 12: allele_id, 13: symbol, 14: hgvs_c, 15: hgvs_p, 16: molecular_consequence, 17: clinical_significance, 18: clinical_significance_ordered, 19: pathogenic, 20: likely_pathogenic, 21: uncertain_significance, 22: likely_benign, 23: benign, 24: review_status, 25: review_status_ordered, 26: last_evaluated, 27: all_submitters, 28: submitters_ordered, 29: all_traits, 30: all_pmids, 31: inheritance_modes, 32: age_of_onset, 33: prevalence, 34: disease_mechanism, 35: origin, 36: xrefs, 37: dates_ordered, 38: gold_stars, 39: conflicted, ================ -Total rows: 297561 +Total rows: 336921 ================ column 8: variation_type -Variant 297560 -Haplotype 1 +Variant 336921 Name: variation_type, dtype: int64 ================ column 17: clinical_significance -Uncertain significance 120486 -Likely benign 51998 -Pathogenic 45293 -Benign 23774 -Likely pathogenic 15027 -Conflicting interpretations of pathogenicity 12704 -Benign/Likely benign 10947 -not provided 10756 -Pathogenic/Likely pathogenic 3250 -other 1793 -risk factor 390 -drug response 281 -association 137 -Affects 96 -Pathogenic, other 92 -Pathogenic, risk factor 73 -Conflicting interpretations of pathogenicity, risk factor 46 -Benign, risk factor 29 -protective 27 -Pathogenic, drug response 26 -Benign, other 24 -Likely pathogenic, risk factor 24 -Likely benign, risk factor 23 -Benign/Likely benign, risk factor 21 -Pathogenic/Likely pathogenic, risk factor 20 -Conflicting interpretations of pathogenicity, other 18 -Uncertain significance, risk factor 18 -Uncertain significance, drug response 17 -Uncertain significance, other 17 -Likely benign, other 12 - ... -Likely pathogenic, association 2 -Conflicting interpretations of pathogenicity, protective 2 -Likely benign, association 2 -Pathogenic, other, protective 2 -Benign/Likely benign, Affects 2 -protective, risk factor 2 -Conflicting interpretations of pathogenicity, Affects, association, risk factor 2 -Conflicting interpretations of pathogenicity, Affects 2 -Benign/Likely benign, protective, risk factor 1 -Conflicting interpretations of pathogenicity, Affects, other 1 -Pathogenic/Likely pathogenic, Affects, risk factor 1 -Conflicting interpretations of pathogenicity, Affects, association, other 1 -Likely benign, Affects 1 -Uncertain significance, association 1 -Benign, drug response 1 -Benign, drug response, risk factor 1 -Benign/Likely benign, drug response 1 -Pathogenic, association, protective 1 -Benign, association, protective 1 -Conflicting interpretations of pathogenicity, other, risk factor 1 -Benign/Likely benign, drug response, risk factor 1 -Uncertain significance, Affects 1 -Likely pathogenic, Affects 1 -Benign, association, risk factor 1 -Affects, risk factor 1 -Benign, Affects 1 -Pathogenic, protective, risk factor 1 -Uncertain significance, protective 1 -Benign, protective, risk factor 1 -Likely benign, drug response 1 -Name: clinical_significance, dtype: int64 +Uncertain significance 141041 +Likely benign 60497 +Pathogenic 47948 +Benign 26229 +Likely pathogenic 16195 +Conflicting interpretations of pathogenicity 15301 +Benign/Likely benign 12456 +not provided 10178 +Pathogenic/Likely pathogenic 3737 +other 1791 +risk factor 379 +drug response 281 +association 137 +Affects 98 +Pathogenic, other 92 +Pathogenic, risk factor 71 +Conflicting interpretations of pathogenicity, risk factor 53 +Benign, risk factor 33 +protective 31 +Pathogenic, drug response 26 +Uncertain significance, risk factor 25 +Benign, other 24 +Benign/Likely benign, risk factor 24 +Pathogenic/Likely pathogenic, risk factor 22 +Likely pathogenic, risk factor 22 +Uncertain significance, other 20 +Conflicting interpretations of pathogenicity, other 20 +Likely benign, risk factor 19 +Uncertain significance, drug response 16 +Likely benign, other 12 + ... +Benign/Likely benign, Affects 2 +Conflicting interpretations of pathogenicity, protective 2 +Uncertain significance, association 2 +Likely pathogenic, association 2 +Pathogenic, other, protective 2 +Conflicting interpretations of pathogenicity, association, other, risk factor 2 +Likely benign, protective 2 +Likely benign, association 2 +Pathogenic/Likely pathogenic, Affects, risk factor 1 +Uncertain significance, Affects 1 +Conflicting interpretations of pathogenicity, other, risk factor 1 +Benign, protective, risk factor 1 +Conflicting interpretations of pathogenicity, Affects, other 1 +Pathogenic, association, protective 1 +Benign, association, protective 1 +Likely benign, drug response 1 +Benign/Likely benign, protective, risk factor 1 +- 1 +Likely benign, Affects 1 +Benign, Affects 1 +Conflicting interpretations of pathogenicity, Affects, association, other 1 +Pathogenic, protective, risk factor 1 +Benign, drug response 1 +Benign/Likely benign, drug response 1 +Uncertain significance, protective 1 +Affects, risk factor 1 +Benign, association, risk factor 1 +Likely pathogenic, Affects 1 +Benign/Likely benign, drug response, risk factor 1 +Benign, drug response, risk factor 1 +Name: clinical_significance, Length: 79, dtype: int64 ================ column 24: review_status -criteria provided, single submitter 196405 -criteria provided, multiple submitters, no conflicts 35277 -no assertion criteria provided 33740 -criteria provided, conflicting interpretations 12659 -no assertion provided 10752 -reviewed by expert panel 8607 -no assertion for the individual variant 96 +criteria provided, single submitter 223538 +criteria provided, multiple submitters, no conflicts 45463 +no assertion criteria provided 33465 +criteria provided, conflicting interpretations 15276 +no assertion provided 10174 +reviewed by expert panel 8870 +no assertion for the individual variant 111 practice guideline 23 -- 2 +- 1 Name: review_status, dtype: int64 ================ column 38: gold_stars -1 188125 -0 39542 -2 31525 -1 20939 -3 5601 -0 5046 -2 3752 -3 3006 +1 229447 +2 43251 +0 41618 +1 9367 +3 6198 +3 2672 +2 2212 +0 2132 4 23 -- 2 +- 1 Name: gold_stars, dtype: int64 ================ column 27: all_submitters -Illumina Clinical Services Laboratory,Illumina 75018 -GeneDx 38529 -Invitae, 20578 -EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 14594 -OMIM 14279 -Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8793 -Ambry Genetics 8198 -Genetic Services Laboratory, University of Chicago 7768 -PreventionGenetics 4788 -GeneReviews 2340 -Counsyl 2184 -PreventionGenetics;Illumina Clinical Services Laboratory,Illumina 1805 -GeneDx;Invitae, 1705 -Praxis fuer Humangenetik Tuebingen, 1637 -Ambry Genetics;Invitae, 1520 -ITMI 1481 -Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 1448 -Illumina Clinical Services Laboratory,Illumina;GeneDx 1419 -EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx 1244 -Invitae,;GeneDx 1229 -Tuberous sclerosis database (TSC2) 1184 -InSiGHT 1173 -EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina 1126 -ARUP Laboratories, Molecular Genetics and Genomics 1084 -Retina International 1037 -Systems Biology Platform Zhejiang California International NanoSystems Institute 1004 -Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx 983 -GeneReviews;OMIM 935 -ARUP Institute,ARUP Laboratories 923 -Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 914 - ... -OMIM;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae,;Counsyl;GeneDx 1 -Ambry Genetics;Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 1 -PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;ITMI;Invitae,;Illumina Clinical Services Laboratory,Illumina;Caryl and Israel Englander Institute for Precision Medicine,Weill Cornell Medicine 1 -OMIM;GeneReviews;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PharmGKB;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Donald Williams Parsons Laboratory,Baylor College of Medicine 1 -Counsyl;Juha Muilu Group, Institute for Molecular Medicine Finland (FIMM);SNPedia 1 -ARUP Laboratories, Molecular Genetics and Genomics;GeneDx;Department of Pathology and Laboratory Medicine,Sinai Health System;Ambry Genetics;Invitae,;Illumina Clinical Services Laboratory,Illumina;Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 1 -GeneDx;Illumina Clinical Services Laboratory,Illumina;Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 -OMIM;GeneDx;Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Blueprint Genetics;Biesecker Lab/Human Development Section,National Institutes of Health;Invitae,;Illumina Clinical Services Laboratory,Illumina;Ambry Genetics 1 -Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg;GeneDx 1 -OMIM;Baylor Miraca Genetics Laboratories;ARUP Laboratories, Molecular Genetics and Genomics;GeneDx;Database of Curated Mutations (DoCM) 1 -Breast Cancer Information Core (BIC) (BRCA2);Sharing Clinical Reports Project (SCRP);Invitae,;CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario;GeneDx 1 -Center for Bioinformatics, Peking University;Athena Diagnostics Inc;GeneDx;Invitae, 1 -ARUP Laboratories, Molecular Genetics and Genomics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Ambry Genetics;Illumina Clinical Services Laboratory,Illumina;Invitae, 1 -InSiGHT;Invitae,;Praxis fuer Humangenetik Tuebingen,;Harris Lab, University of Minnesota;Ambry Genetics;Mayo Clinic Genetic Testing Laboratories,Mayo Clinic;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Genetic Services Laboratory, University of Chicago 1 -OMIM;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;Genetic Services Laboratory, University of Chicago 1 -OMIM;Baylor Miraca Genetics Laboratories;Illumina Clinical Services Laboratory,Illumina 1 -Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency;Department of Pathology and Laboratory Medicine,Sinai Health System;GeneDx;Department of Pathology and Molecular Medicine,Queen's University;Breast Cancer Information Core (BIC) (BRCA1);Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA);Sharing Clinical Reports Project (SCRP);Counsyl;CSER_CC_NCGL, University of Washington Medical Center;Ambry Genetics;Invitae,;CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 -Breast Cancer Information Core (BIC) (BRCA1);Ambry Genetics;Invitae,;GeneDx 1 -GeneReviews;OMIM;Invitae,;Athena Diagnostics Inc;GeneDx 1 -Tuberous sclerosis database (TSC2);GeneDx;Genetic Services Laboratory, University of Chicago;Ambry Genetics;Invitae, 1 -Invitae,;Breast Cancer Information Core (BIC) (BRCA1);Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA);Ambry Genetics;Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 1 -Centre for Genomic and Experimental Medicine,University of Edinburgh;Genetic Services Laboratory, University of Chicago 1 -Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital;Genetic Services Laboratory, University of Chicago;GeneDx 1 -Illumina Clinical Services Laboratory,Illumina;Laboratory of Molecular Genetics,CHU RENNES 1 -OMIM;Mendelics Analise Genomica;Genetic Services Laboratory, University of Chicago 1 -Invitae,;Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto;Breast Cancer Information Core (BIC) (BRCA2);Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge;Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA);Sharing Clinical Reports Project (SCRP);GeneDx 1 -Ambry Genetics;Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency;Invitae,;Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 1 -PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae,;Counsyl 1 -Invitae,;Illumina Clinical Services Laboratory,Illumina;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 -Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae,;GeneReviews;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;CSER_CC_NCGL, University of Washington Medical Center 1 -Name: all_submitters, dtype: int64 +Illumina Clinical Services Laboratory,Illumina 73500 +Invitae 39757 +GeneDx 39272 +Ambry Genetics 15211 +OMIM 14237 +EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 13530 +Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8464 +Genetic Services Laboratory, University of Chicago 7457 +PreventionGenetics 4463 +Invitae;Ambry Genetics 3664 +GeneDx;Invitae 3449 +Ambry Genetics;Invitae 2492 +GeneReviews 2300 +Counsyl 2157 +Athena Diagnostics Inc 1983 +Illumina Clinical Services Laboratory,Illumina;Invitae 1652 +Praxis fuer Humangenetik Tuebingen 1568 +Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1536 +PreventionGenetics;Illumina Clinical Services Laboratory,Illumina 1490 +Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 1422 +ITMI 1392 +Illumina Clinical Services Laboratory,Illumina;GeneDx 1209 +Tuberous sclerosis database (TSC2) 1138 +InSiGHT 1092 +Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge;Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 1080 +Retina International 1029 +ClinVar Staff, National Center for Biotechnology Information (NCBI) 1014 +ARUP Laboratories, Molecular Genetics and Genomics 1005 +Systems Biology Platform Zhejiang California International NanoSystems Institute 1002 +EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae 979 + ... +Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge;LDLR-LOVD, British Heart Foundation;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 1 +Ambry Genetics;Invitae;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Quest Diagnostics Nichols Institute San Juan Capistrano 1 +Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg;OMIM;Baylor Miraca Genetics Laboratories 1 +GeneReviews;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics;Genetic Services Laboratory, University of Chicago 1 +Breast Cancer Information Core (BIC) (BRCA2);Ambry Genetics;Quest Diagnostics Nichols Institute San Juan Capistrano;GeneDx;Department of Pathology and Laboratory Medicine,Sinai Health System 1 +Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital;Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum;LDLR-LOVD, British Heart Foundation;Robarts Research Institute,University of Western Ontario;Fundacion Hipercolesterolemia Familiar 1 +InSiGHT;Invitae;Ambry Genetics;Counsyl;GeneDx 1 +EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Ambry Genetics 1 +OMIM;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Biesecker Lab/Human Development Section,National Institutes of Health;Laboratory of Genetics and Molecular Cardiology,University of São Paulo;Invitae;Ambry Genetics;Praxis fuer Humangenetik Tuebingen 1 +Invitae;Sharing Clinical Reports Project (SCRP);Counsyl 1 +Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto;CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario;Department of Pathology and Molecular Medicine,Queen's University;Invitae;Breast Cancer Information Core (BIC) (BRCA2);Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge;Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA);Sharing Clinical Reports Project (SCRP) 1 +Biochimie Génétique et moléculaire,CHUGA 1 +Laboratory Corporation of America;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae;Ambry Genetics 1 +CSER_CC_NCGL, University of Washington Medical Center;Counsyl;Invitae;University of Washington Department of Laboratory Medicine,University of Washington;Ambry Genetics;GeneDx 1 +Invitae;Breast Cancer Information Core (BIC) (BRCA2);Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA);Sharing Clinical Reports Project (SCRP);Counsyl;Ambry Genetics;Quest Diagnostics Nichols Institute San Juan Capistrano 1 +Breast Cancer Information Core (BIC) (BRCA1);Department of Pathology and Laboratory Medicine,Sinai Health System;Ambry Genetics 1 +Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine;International Pleuropulmonary Blastoma Registry,Children's Hospitals and Clinics of Minnesota 1 +Counsyl;Invitae;Ambry Genetics;Illumina Clinical Services Laboratory,Illumina;GeneDx 1 +Tuberous sclerosis database (TSC2);Illumina Clinical Services Laboratory,Illumina;GeneDx;Ambry Genetics;Athena Diagnostics Inc;Invitae 1 +GeneReviews;Division of Human Genetics,Children's Hospital of Philadelphia;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Counsyl;Invitae;Fulgent Genetics;ARUP Institute,ARUP Laboratories;Genetic Services Laboratory, University of Chicago;GeneDx;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;ARUP Laboratories, Molecular Genetics and Genomics 1 +Breast Cancer Information Core (BIC) (BRCA2);Quest Diagnostics Nichols Institute San Juan Capistrano;Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA);Sharing Clinical Reports Project (SCRP);Counsyl;Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge;GeneDx;Ambry Genetics;Department of Pathology and Laboratory Medicine,Sinai Health System;Invitae 1 +OMIM;Counsyl;Invitae;Database of Curated Mutations (DoCM);GeneDx 1 +Ambry Genetics;Invitae;Counsyl;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 +Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario;Ambry Genetics;Illumina Clinical Services Laboratory,Illumina;Invitae 1 +Hereditary Research Laboratory,Bethlehem University;Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 1 +Breast Cancer Information Core (BIC) (BRCA2);Sharing Clinical Reports Project (SCRP);Counsyl;Quest Diagnostics Nichols Institute San Juan Capistrano;GeneDx;Ambry Genetics;Invitae 1 +Sharing Clinical Reports Project (SCRP);Ambry Genetics;Laboratory Corporation of America 1 +Ambry Genetics;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;Counsyl;Invitae;Quest Diagnostics Nichols Institute San Juan Capistrano;GeneDx 1 +OMIM;Database of Curated Mutations (DoCM);Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneReviews;Laboratory of Translational Genomics, National Cancer Institute 1 +Biesecker Lab/Human Development Section,National Institutes of Health;Tuberous sclerosis database (TSC2);Illumina Clinical Services Laboratory,Illumina;Ambry Genetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae 1 +Name: all_submitters, Length: 13719, dtype: int64 ================ column 31: inheritance_modes Series([], Name: inheritance_modes, dtype: int64) @@ -170,82 +169,84 @@ column 33: prevalence Series([], Name: prevalence, dtype: int64) ================ column 34: disease_mechanism -loss of function 32370 -gain of function 1917 -Disease mechanisms vary by gene. 856 -gain of function;loss of function 207 -loss of function;gain of function 196 -Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function 190 -Affects gamma-sarcoglycan and also disrupts the integrity of the entire sarcoglycan complex. 137 +loss of function 34882 +gain of function 2147 +More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function 982 +Disease mechanisms vary by gene. 933 +gain of function;loss of function 224 +Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function 204 +loss of function;gain of function 202 +Affects gamma-sarcoglycan and also disrupts the integrity of the entire sarcoglycan complex. 194 Other 107 -May be benign 64 +May be benign 69 unknown 33 Disease mechanisms vary by gene.;loss of function 5 +loss of function;More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del. 3 Dominant Negative 2 gain of function;Disease mechanisms vary by gene. 2 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function;Disease mechanisms vary by gene. 1 Name: disease_mechanism, dtype: int64 ================ column 35: origin -germline 264787 -not provided 7540 -unknown 7416 -germline;unknown 5405 -somatic 2555 -germline;not provided 2414 -de novo 1146 -not provided;germline 1042 -unknown;germline 874 -inherited 614 -maternal 430 -germline;not provided;unknown 288 -germline;somatic 277 -de novo;germline 274 -paternal 238 -not provided;unknown 231 -germline;inherited 203 -germline;de novo 197 -germline;maternal 161 -germline;not applicable 146 -somatic;germline 135 -germline;paternal 127 -not provided;germline;unknown 66 -germline;unknown;not provided 56 -not applicable 51 -germline;maternal;unknown 46 -inherited;germline 45 -not provided;unknown;germline 41 -de novo;germline;unknown 36 -de novo;unknown 32 - ... -unknown;maternal 1 -germline;maternal;unknown;not provided 1 -not provided;germline;unknown;maternal 1 -somatic;germline;maternal;paternal 1 -de novo;not provided;unknown 1 -not provided;de novo;germline;unknown 1 -de novo;not provided 1 -germline;paternal;unknown;de novo 1 -germline;somatic;not provided;unknown 1 -de novo;somatic 1 -not provided;inherited;germline 1 -unknown;germline;de novo 1 -germline;somatic;paternal;unknown 1 -somatic;germline;not provided;unknown 1 -unknown;germline;de novo;somatic 1 -germline;not applicable;inherited;unknown 1 -germline;somatic;de novo 1 -germline;not provided;biparental 1 -germline;not applicable;not provided;unknown 1 -not provided;germline;unknown;paternal 1 -germline;unknown;maternal;de novo;inherited 1 -germline;de novo;unknown;somatic 1 -germline;not applicable;somatic 1 -inherited;maternal;not provided 1 -not provided;germline;de novo 1 -maternal;not provided;unknown 1 -not provided;paternal;germline 1 -germline;unknown;inherited 1 -germline;unknown;de novo;maternal 1 -germline;not provided;unknown;inherited 1 -Name: origin, dtype: int64 +germline 303047 +not provided 7403 +unknown 7390 +germline;unknown 6050 +somatic 2571 +germline;not provided 2414 +de novo 1164 +not provided;germline 1083 +unknown;germline 1053 +inherited 644 +maternal 465 +germline;not provided;unknown 379 +de novo;germline 291 +germline;somatic 271 +paternal 269 +not provided;unknown 231 +germline;inherited 230 +germline;de novo 184 +somatic;germline 171 +germline;maternal 170 +germline;not applicable 146 +germline;paternal 135 +germline;unknown;not provided 68 +not provided;germline;unknown 68 +not applicable 55 +inherited;germline 52 +germline;maternal;unknown 50 +not provided;unknown;germline 43 +maternal;germline 41 +de novo;germline;unknown 40 + ... +germline;maternal;biparental;inherited 1 +inherited;maternal;not provided 1 +maternal;not provided;unknown 1 +not provided;somatic;germline;unknown 1 +de novo;paternal 1 +not provided;unknown;paternal;germline 1 +germline;de novo;not provided 1 +germline;not provided;unknown;maternal 1 +unknown;germline;paternal 1 +germline;unknown;de novo;not provided 1 +not provided;maternal;germline 1 +germline;unknown;somatic;de novo 1 +de novo;maternal;paternal;unknown 1 +inherited;paternal 1 +germline;somatic;paternal;unknown 1 +germline;maternal;unknown;not provided 1 +de novo;germline;not provided;unknown;maternal 1 +germline;not provided;unknown;tested-inconclusive 1 +germline;paternal;unknown;not provided 1 +inherited;paternal;germline 1 +not provided;paternal 1 +de novo;germline;unknown;maternal 1 +germline;maternal;unknown;paternal 1 +germline;not provided;unknown;somatic;de novo 1 +maternal;paternal;unknown 1 +inherited;not provided;germline;unknown 1 +germline;uniparental 1 +maternal;inherited;unknown 1 +unknown;germline;not provided 1 +germline;inherited;not provided;unknown 1 +Name: origin, Length: 213, dtype: int64 diff --git a/output/b38/multi/clinvar_allele_trait_pairs.multi.b38.tsv.gz b/output/b38/multi/clinvar_allele_trait_pairs.multi.b38.tsv.gz index c876046..6a2d32f 100644 Binary files a/output/b38/multi/clinvar_allele_trait_pairs.multi.b38.tsv.gz and b/output/b38/multi/clinvar_allele_trait_pairs.multi.b38.tsv.gz differ diff --git a/output/b38/multi/clinvar_allele_trait_pairs.multi.b38.tsv.gz.tbi b/output/b38/multi/clinvar_allele_trait_pairs.multi.b38.tsv.gz.tbi index a3c1073..dbabf1b 100644 Binary files a/output/b38/multi/clinvar_allele_trait_pairs.multi.b38.tsv.gz.tbi and b/output/b38/multi/clinvar_allele_trait_pairs.multi.b38.tsv.gz.tbi differ diff --git a/output/b38/multi/clinvar_allele_trait_pairs_example_750_rows.multi.b38.tsv b/output/b38/multi/clinvar_allele_trait_pairs_example_750_rows.multi.b38.tsv index c4f4506..aa955dc 100644 --- a/output/b38/multi/clinvar_allele_trait_pairs_example_750_rows.multi.b38.tsv +++ b/output/b38/multi/clinvar_allele_trait_pairs_example_750_rows.multi.b38.tsv @@ -1,7 +1,7 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_id symbol hgvs_c hgvs_p molecular_consequence clinical_significance clinical_significance_ordered pathogenic likely_pathogenic uncertain_significance likely_benign benign review_status review_status_ordered last_evaluated all_submitters submitters_ordered all_traits all_pmids inheritance_modes age_of_onset prevalence disease_mechanism origin xrefs dates_ordered 1 7809893 C G 7809893 7809893 + Haplotype 224889 RCV000210468 SCV000266565 226735 PER3 NM_001289862.1:c.1243C>G NP_001276791.1:p.Pro415Ala NM_001289862.1:c.1243C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-10-17 OMIM OMIM Advanced sleep phase syndrome, familial, 3;ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (1 family) 26903630 germline MedGen:C4225169;OMIM:616882;Orphanet:164736 2016-10-17 1 7809900 A G 7809900 7809900 + Haplotype 224889 RCV000210468 SCV000266565 226734 PER3 NM_001289862.1:c.1250A>G NP_001276791.1:p.His417Arg NM_001289862.1:c.1250A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-10-17 OMIM OMIM Advanced sleep phase syndrome, familial, 3;ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (1 family) 26903630 germline MedGen:C4225169;OMIM:616882;Orphanet:164736 2016-10-17 -1 7984971 G A 7984971 7984971 + Haplotype 60700 RCV000007484 SCV000027684 22107 PARK7 NM_007262.4:c.487G>A NP_009193.2:p.Glu163Lys NM_007262.4:c.487G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-10-08 OMIM OMIM Parkinson disease 7;PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 16240358;20301402;23279440 germline GeneReviews:NBK1223;Genetic Alliance:Parkinson+disease+7/9090;MedGen:C1853445;OMIM:602533.0001;OMIM:602533.0002;OMIM:602533.0003;OMIM:602533.0004;OMIM:602533.0005;OMIM:602533.0006;OMIM:606324;Orphanet:2828 2012-10-08 +1 7984971 G A 7984971 7984971 + Haplotype 446717 RCV000007484 SCV000027684 22107 PARK7 NM_007262.4:c.487G>A NP_009193.2:p.Glu163Lys NM_007262.4:c.487G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-11-01 OMIM OMIM Parkinson disease 7;PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 16240358;20301402;23279440 germline GeneReviews:NBK1223;Genetic Alliance:Parkinson+disease+7/9090;MedGen:C1853445;OMIM:602533.0001;OMIM:602533.0002;OMIM:602533.0003;OMIM:602533.0004;OMIM:602533.0005;OMIM:602533.0006;OMIM:606324;Orphanet:2828 2005-11-01 1 25301061 C G 25301061 25301061 + Haplotype 202166 RCV000184007 SCV000236501 198596 RHD NM_016124.4:c.602C>G NP_057208.2:p.Thr201Arg NM_016124.4:c.602C>G:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 0000-00-00 Colsan Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 1 25301061 C G 25301061 25301061 + Haplotype 208474 RCV000190496 SCV000245368 198596 RHD NM_016124.4:c.602C>G NP_057208.2:p.Thr201Arg NM_016124.4:c.602C>G:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 0000-00-00 Colsan Colsan Weak RhD expression;Weak RhD expression unknown MedGen:CN231363 0000-00-00 1 25301552 T G 25301552 25301552 + Haplotype 202166 RCV000184007 SCV000236501 198597 RHD NM_016124.4:c.667T>G NP_057208.2:p.Phe223Val NM_016124.4:c.667T>G:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 0000-00-00 Colsan Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 @@ -17,7 +17,9 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 25420739 G C 25420739 25420739 - Haplotype 17709 RCV000019283 SCV000039571 32748 RHCE NM_020485.5:c.48G= NP_065231.3:p.Trp16= NM_020485.5:c.48G=:synonymous variant Benign benign 0 0 0 0 1 no assertion criteria provided no assertion criteria provided 1993-09-01 OMIM OMIM RH C/c POLYMORPHISM;RH C/c POLYMORPHISM 8220426 germline OMIM:111700.0002 1993-09-01 1 53210729 T G 53210729 53210729 + Haplotype 30118 RCV000023026 SCV000044317 39073 CPT2 NM_000098.2:c.1055T>G NP_000089.1:p.Phe352Cys NM_000098.2:c.1055T>G:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-08-01 OMIM OMIM Encephalopathy, acute, infection-induced, 4, susceptibility to;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 15811315;18306170;20934285;21697855 germline Genetic Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308;MedGen:C3280160;OMIM:614212;Orphanet:263524 2011-08-01 1 53210776 G A 53210776 53210776 + Haplotype 30118 RCV000023026 SCV000044317 39074 CPT2 NM_000098.2:c.1102G>A NP_000089.1:p.Val368Ile NM_000098.2:c.1102G>A:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-08-01 OMIM OMIM Encephalopathy, acute, infection-induced, 4, susceptibility to;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 15811315;18306170;20934285;21697855 germline Genetic Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308;MedGen:C3280160;OMIM:614212;Orphanet:263524 2011-08-01 +1 53210911 CAG C 53210913 53210914 + Haplotype 60702 RCV000009520 SCV000029738 98339 CPT2 NM_000098.2:c.1239_1240delGA NP_000089.1:p.Lys414Thrfs NM_000098.2:c.1239_1240delGA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-11-01 OMIM OMIM Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED 10090476;11477613;12410208;20301431 germline GeneReviews:NBK1253;MedGen:C1833508;OMIM:255110;Orphanet:157;Orphanet:228302 2002-11-01 1 53210911 CAG C 53210913 53210914 + Haplotype 60702 RCV000202553 SCV000153666 98339 CPT2 NM_000098.2:c.1239_1240delGA NP_000089.1:p.Lys414Thrfs NM_000098.2:c.1239_1240delGA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-05-15 GeneReviews GeneReviews Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency 10090476;20301431;25173338 germline GeneReviews:NBK1253;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 2014-05-15 +1 53211016 T C 53211016 53211016 + Haplotype 60702 RCV000009520 SCV000029738 23999 CPT2 NM_000098.2:c.1342T>C NP_000089.1:p.Phe448Leu NM_000098.2:c.1342T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-11-01 OMIM OMIM Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED 10090476;11477613;12410208;20301431 germline GeneReviews:NBK1253;MedGen:C1833508;OMIM:255110;Orphanet:157;Orphanet:228302 2002-11-01 1 53211016 T C 53211016 53211016 + Haplotype 60702 RCV000202553 SCV000153666 23999 CPT2 NM_000098.2:c.1342T>C NP_000089.1:p.Phe448Leu NM_000098.2:c.1342T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-05-15 GeneReviews GeneReviews Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency 10090476;20301431;25173338 germline GeneReviews:NBK1253;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 2014-05-15 1 54865405 C G 54865405 54865405 - Haplotype 4368 RCV000004616 SCV000024790 38433 DHCR24 NM_014762.3:c.918G>C NP_055577.1:p.Lys306Asn NM_014762.3:c.918G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2001-10-01 OMIM OMIM Desmosterolosis;DESMOSTEROLOSIS 11519011 germline GeneTests:238860;Genetic Alliance:Desmosterolosis/2221;MedGen:C1865596;OMIM:602398;Office of Rare Diseases:10283;Orphanet:35107 2001-10-01 1 54865442 T G 54865442 54865442 - Haplotype 4368 RCV000004616 SCV000024790 19407 DHCR24 NM_014762.3:c.881A>C NP_055577.1:p.Asn294Thr NM_014762.3:c.881A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2001-10-01 OMIM OMIM Desmosterolosis;DESMOSTEROLOSIS 11519011 germline GeneTests:238860;Genetic Alliance:Desmosterolosis/2221;MedGen:C1865596;OMIM:602398;Office of Rare Diseases:10283;Orphanet:35107 2001-10-01 @@ -77,6 +79,9 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 179575916 G C 179575916 179575916 - Haplotype 225143 RCV000210779 SCV000266491 227037 NPHS2 NM_014625.3:c.-52C>G NM_014625.3:c.-52C>G:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-01-01 Human Genetics Disease in Children – Taif University,Taif University Human Genetics Disease in Children – Taif University,Taif University Nephrotic syndrome, idiopathic, steroid-resistant unknown Genetic Alliance:Nephrotic+syndrome%2C+idiopathic%2C+steroid-resistant/5149;MedGen:C1868672;OMIM:600995;Office of Rare Diseases:3946;Orphanet:656 2016-01-01 1 183574507 T C 183574507 183574507 - Haplotype 2240 RCV000002328 SCV000022486 38423 NCF2 NM_000433.3:c.481A>G NP_000424.2:p.Lys161Glu NM_000433.3:c.481A>G:missense variant;NM_001190789.1:c.366+3092A>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-02-24 OMIM OMIM Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II 22876374;9070911 germline GeneReviews:NBK99496;Genetic Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977;MedGen:C1856245;OMIM:233710;Orphanet:379 1997-02-24 1 183574509 T A 183574509 183574509 - Haplotype 2240 RCV000002328 SCV000022486 17279 NCF2 NM_000433.3:c.479A>T NP_000424.2:p.Asp160Val NM_000433.3:c.479A>T:missense variant;NM_001190789.1:c.366+3090A>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-02-24 OMIM OMIM Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II 22876374;9070911 germline GeneReviews:NBK99496;Genetic Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977;MedGen:C1856245;OMIM:233710;Orphanet:379 1997-02-24 +1 207454348 T C 207454348 207454348 + Haplotype 17065 RCV000018594 SCV000038877 472254 CR2 NM_001006658.2:c.-71T>C risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2007-03-06 OMIM OMIM Systemic lupus erythematosus 9;SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 17360460 germline Genetics Home Reference:systemic-lupus-erythematosus;MedGen:C1970455;OMIM:120650.0001;OMIM:610927 2007-03-06 +1 207472977 G A 207472977 207472977 + Haplotype 17065 RCV000018594 SCV000038877 389365 CR2 NM_001006658.2:c.1776G>A NP_001006659.1:p.Leu592= NM_001006658.2:c.1776G>A:synonymous variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2007-03-06 OMIM OMIM Systemic lupus erythematosus 9;SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 17360460 germline Genetics Home Reference:systemic-lupus-erythematosus;MedGen:C1970455;OMIM:120650.0001;OMIM:610927 2007-03-06 +1 207473117 G A 207473117 207473117 + Haplotype 17065 RCV000018594 SCV000038877 389363 CR2 NM_001006658.2:c.1916G>A NP_001006659.1:p.Ser639Asn NM_001006658.2:c.1916G>A:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2007-03-06 OMIM OMIM Systemic lupus erythematosus 9;SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 17360460 germline Genetics Home Reference:systemic-lupus-erythematosus;MedGen:C1970455;OMIM:120650.0001;OMIM:610927 2007-03-06 1 209706871 C CA 209706873 209706873 + Haplotype 8911 RCV000009466 SCV000029684 23950 HSD11B1 NM_181755.2:c.331+53_331+54insA NM_181755.2:c.331+53_331+54insA:intron variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2007-01-01 OMIM OMIM Cortisone reductase deficiency 2;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 12858176;15827106;16091483;16817821;17062770 germline Genetic Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103;MedGen:C3553382;OMIM:614662;Orphanet:168588 2007-01-01 1 209706914 T G 209706914 209706914 + Haplotype 8911 RCV000009466 SCV000029684 76328 HSD11B1 NM_181755.2:c.332-29T>G NM_181755.2:c.332-29T>G:intron variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2007-01-01 OMIM OMIM Cortisone reductase deficiency 2;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 12858176;15827106;16091483;16817821;17062770 germline Genetic Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103;MedGen:C3553382;OMIM:614662;Orphanet:168588 2007-01-01 1 210919955 C G 210919955 210919955 - Haplotype 203434 RCV000185594 SCV000238503 181518 KCNH1 NM_172362.2:c.1147G>C NP_758872.1:p.Val383Leu NM_172362.2:c.1147G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-06-01 OMIM OMIM Zimmermann-Laband syndrome 1;ZIMMERMANN-LABAND SYNDROME 1 18541964;25915598 germline Gene:353173;Genetic Alliance:Laband+syndrome/4062;MedGen:CN032818;OMIM:135500;Orphanet:3473 2015-06-01 @@ -85,6 +90,9 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 226985332 G A 226985332 226985332 + Haplotype 217876 RCV000201953 SCV000256872 18675 COQ8A NM_020247.4:c.1651G>A NP_064632.2:p.Glu551Lys NM_020247.4:c.1651G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-06-16 Mendelics Analise Genomica Mendelics Analise Genomica Coenzyme Q10 deficiency, primary, 4 18319072;20580948;28125198 germline GeneReviews:NBK410087;Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342;MedGen:C2677589;OMIM:612016;Orphanet:139485 2014-06-16 1 229432787 G A 229432787 229432787 - Haplotype 18293 RCV000019955 SCV000040253 38498 ACTA1 NM_001100.3:c.223C>T NP_001091.1:p.His75Tyr NM_001100.3:c.223C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-07-01 OMIM OMIM Nemaline myopathy 3;NEMALINE MYOPATHY 3 19553116;20301465;22510848 germline GeneReviews:NBK1288;Genetic Alliance:Nemaline+myopathy+3/5125;MedGen:C1834336;OMIM:161800;Office of Rare Diseases:10111 2009-07-01 1 229432788 C A 229432788 229432788 - Haplotype 18293 RCV000019955 SCV000040253 33332 ACTA1 NM_001100.3:c.222G>T NP_001091.1:p.Glu74Asp NM_001100.3:c.222G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-07-01 OMIM OMIM Nemaline myopathy 3;NEMALINE MYOPATHY 3 19553116;20301465;22510848 germline GeneReviews:NBK1288;Genetic Alliance:Nemaline+myopathy+3/5125;MedGen:C1834336;OMIM:161800;Office of Rare Diseases:10111 2009-07-01 +1 231421509 C G 231421509 231421509 - Haplotype 156155 RCV000144173 SCV000189250 165954 EGLN1 NM_022051.2:c.380G>C NP_071334.1:p.Cys127Ser NM_022051.2:c.380G>C:missense variant Affects affects 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-09-01 OMIM OMIM Hemoglobin, high altitude adaptation;HEMOGLOBIN, HIGH ALTITUDE ADAPTATION 25129147 germline MedGen:C1836778;OMIM:609070 2014-09-01 +1 231421877 G C 231421877 231421877 - Haplotype 156155 RCV000144173 SCV000189250 227498 EGLN1 NM_022051.2:c.12C>G NP_071334.1:p.Asp4Glu NM_022051.2:c.12C>G:missense variant Affects affects 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-09-01 OMIM OMIM Hemoglobin, high altitude adaptation;HEMOGLOBIN, HIGH ALTITUDE ADAPTATION 25129147 germline MedGen:C1836778;OMIM:609070 2014-09-01 +2 44942310 G A 44942310 44942310 + Haplotype 441532 RCV000006470 SCV000026653 21137 SIX3 NM_005413.3:c.206G>A NP_005404.1:p.Gly69Asp NM_005413.3:c.206G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-12-01 OMIM OMIM Holoprosencephaly 2;HOLOPROSENCEPHALY 2 17001667;20301702 germline GeneReviews:NBK1530;Genetic Alliance:Holoprosencephaly+2/8559;MedGen:C1834877;OMIM:157170;Orphanet:2162 2006-12-01 2 47046329 A G 47046329 47046329 + Haplotype 190388 RCV000170526 SCV000223091 188215 TTC7A NM_020458.3:c.1817A>G NP_065191.2:p.Lys606Arg NM_001288953.1:c.1715A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-09-01 OMIM OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 germline MedGen:C0220744;OMIM:243150;OMIM:609332.0001;OMIM:609332.0002;OMIM:609332.0003;OMIM:609332.0004;OMIM:609332.0005;OMIM:609332.0006;OMIM:609332.0007;OMIM:609332.0008;OMIM:609332.0009;OMIM:609332.0010;OMIM:609332.0011;OMIM:609332.0012;OMIM:609332.0013;OMIM:609332.0014;OMIM:609332.0015;Office of Rare Diseases:3013;Orphanet:2300;Orphanet:436252;SNOMED CT:95472001 2013-09-01 2 47050043 T C 47050043 47050043 + Haplotype 190388 RCV000170526 SCV000223091 188216 TTC7A NM_020458.3:c.2014T>C NP_065191.2:p.Ser672Pro NM_001288953.1:c.1912T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-09-01 OMIM OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 germline MedGen:C0220744;OMIM:243150;OMIM:609332.0001;OMIM:609332.0002;OMIM:609332.0003;OMIM:609332.0004;OMIM:609332.0005;OMIM:609332.0006;OMIM:609332.0007;OMIM:609332.0008;OMIM:609332.0009;OMIM:609332.0010;OMIM:609332.0011;OMIM:609332.0012;OMIM:609332.0013;OMIM:609332.0014;OMIM:609332.0015;Office of Rare Diseases:3013;Orphanet:2300;Orphanet:436252;SNOMED CT:95472001 2013-09-01 2 74464919 C T 74464919 74464919 - Haplotype 375688 RCV000114957 SCV000148867 214379 MOGS NM_006302.2:c.329G>A NP_006293.2:p.Arg110His NM_006302.2:c.329G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-04-24 OMIM OMIM Congenital disorder of glycosylation type 2B;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb 20301507;24716661 germline Genetic Alliance:CONGENITAL+DISORDER+OF+GLYCOSYLATION%2C+TYPE+IIb/8057;MedGen:C1853736;OMIM:606056;Office of Rare Diseases:10767;Orphanet:79330 2014-04-24 @@ -92,6 +100,8 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 2 86217101 T C 86217101 86217101 - Distinct chromosomes 157528 RCV000144873 SCV000172145 167389 REEP1 NM_001164730.1:c.626A>G NP_001158202.1:p.Ter209Trp NM_001164730.1:c.626A>G:stop lost;NM_001164732.1:c.370A>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2013-11-01 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type|spasticity;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 2 127654493 G A 127654493 127654493 - Haplotype 222901 RCV000208555 SCV000264322 224616 LIMS2 NM_001161404.1:c.275C>T NP_001154876.1:p.Pro92Leu NM_001161404.1:c.275C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-12 OMIM OMIM Muscular dystrophy, limb-girdle, type 2W;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W (1 family) 25589244 germline MedGen:C4225192;OMIM:616827 2016-08-12 2 127654507 G C 127654507 127654507 - Haplotype 222901 RCV000208555 SCV000264322 224615 LIMS2 NM_001136037.2:c.342C>G NP_001154876.1:p.Asn87Lys NM_001161404.1:c.261C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-12 OMIM OMIM Muscular dystrophy, limb-girdle, type 2W;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W (1 family) 25589244 germline MedGen:C4225192;OMIM:616827 2016-08-12 +2 166272746 C A 166272746 166272746 - Haplotype 441531 RCV000023304 SCV000044595 39316 SCN9A NM_002977.3:c.2971G>T NP_002968.1:p.Val991Leu NM_002977.3:c.2971G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-01-01 OMIM OMIM Small fiber neuropathy;NEUROPATHY, SMALL FIBER 21698661 germline GeneTests:320010;Genetics Home Reference:small-fiber-neuropathy;MedGen:C3276709;OMIM:133020 2012-01-01 +2 166277030 T G 166277030 166277030 - Haplotype 441531 RCV000023304 SCV000044595 39315 SCN9A NM_002977.3:c.2794A>C NP_002968.1:p.Met932Leu NM_002977.3:c.2794A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-01-01 OMIM OMIM Small fiber neuropathy;NEUROPATHY, SMALL FIBER 21698661 germline GeneTests:320010;Genetics Home Reference:small-fiber-neuropathy;MedGen:C3276709;OMIM:133020 2012-01-01 2 178530595 AC A 178530596 178530596 - Haplotype 178839 RCV000155611 SCV000205319 172806 TTN NM_133378.4:c.98315delG NP_001254479.2:p.Gly35340Valfs NM_001267550.2:c.106019delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2013-09-27 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Autosomal recessive centronuclear myopathy 22617344;23975875;24033266 germline Genetic Alliance:Autosomal+recessive+centronuclear+myopathy/7787;Genetics Home Reference:centronuclear-myopathy;MedGen:C0410204;OMIM:255200;Orphanet:169186;Orphanet:ORPHA169186;SNOMED CT:240081004 2013-09-27 2 178569735 ATGTT A 178569736 178569739 - Haplotype 178839 RCV000155611 SCV000205319 172708 TTN NM_001267550.2:c.76393_76396delAACA NP_001254479.2:p.Asn25465Terfs NM_001267550.2:c.76393_76396delAACA:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2013-09-27 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Autosomal recessive centronuclear myopathy 22617344;23975875;24033266 germline Genetic Alliance:Autosomal+recessive+centronuclear+myopathy/7787;Genetics Home Reference:centronuclear-myopathy;MedGen:C0410204;OMIM:255200;Orphanet:169186;Orphanet:ORPHA169186;SNOMED CT:240081004 2013-09-27 2 178607565 T A 178607565 178607565 - Haplotype 179465 RCV000156254 SCV000205970 56237 TTN NM_001267550.2:c.53123A>T NP_597676.3:p.Lys8768Ile NM_001267550.2:c.53123A>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-03-04 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-04 @@ -150,9 +160,11 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 3 33018510 G A 33018510 33018510 - Haplotype 208495 RCV000190508 SCV000245394 205010 GLB1 NM_000404.3:c.1285C>T NP_000395.2:p.Pro429Ser NM_000404.3:c.1285C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2016-05-13 Mendelics Analise Genomica Mendelics Analise Genomica Mucopolysaccharidosis, MPS-IV-B 24156116 germline GeneReviews:NBK164500;Genetic Alliance:Morquio+syndrome+B/4877;MedGen:C0086652;OMIM:253010;Orphanet:582;SNOMED CT:238044004 2016-05-13 3 33024297 G T 33024297 33024297 - Haplotype 208495 RCV000190508 SCV000245394 205011 GLB1 NM_000404.3:c.1097C>A NP_000395.2:p.Pro366His NM_000404.3:c.1097C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2016-05-13 Mendelics Analise Genomica Mendelics Analise Genomica Mucopolysaccharidosis, MPS-IV-B 24156116 germline GeneReviews:NBK164500;Genetic Alliance:Morquio+syndrome+B/4877;MedGen:C0086652;OMIM:253010;Orphanet:582;SNOMED CT:238044004 2016-05-13 3 38551513 G A 38551513 38551513 - Haplotype 440848 RCV000009965 SCV000030186 38446 SCN5A NM_198056.2:c.4859C>T NP_932173.1:p.Thr1620Met NM_000335.4:c.4856C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-04 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10618304;19251209;20129283;20301690;21321465;21810866;23788249;25356965;27854360;9521325 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2000-01-04 +3 38562456 G A 38562456 38562456 - Haplotype 440850 RCV000010010 SCV000030231 38448 SCN5A NM_198056.2:c.3922C>T NP_932173.1:p.Leu1308Phe NM_000335.4:c.3919C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-08-15 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10532948;15851227;18599870;19841300;20129283;20301690;21810866;23788249;25356965;27854360 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2008-08-15 3 38566555 G A 38566555 38566555 - Haplotype 440848 RCV000009965 SCV000030186 24410 SCN5A NM_198056.2:c.3694C>T NP_932173.1:p.Arg1232Trp NM_000335.4:c.3691C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-04 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10618304;19251209;20129283;20301690;21321465;21810866;23788249;25356965;27854360;9521325 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2000-01-04 3 38603929 T C 38603929 38603929 - Haplotype 440849 RCV000010000 SCV000030221 38447 SCN5A NM_198056.2:c.1673A>G NP_932173.1:p.His558Arg NM_000335.4:c.1673A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-04-15 OMIM OMIM Progressive familial heart block type 1A;PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA 10807545;11463728;11997281;12569159;12639704;14760;18378609;23788249;23994779;27854360 germline Genetic Alliance:Progressive+familial+heart+block+type+1A/5978;Genetics Home Reference:progressive-familial-heart-block;MedGen:C1879286;OMIM:113900;OMIM:600163.0009;OMIM:600163.0017;OMIM:600163.0018;OMIM:600163.0031;Office of Rare Diseases:1093;Orphanet:871 2008-04-15 3 38604067 G A 38604067 38604067 - Haplotype 440849 RCV000010000 SCV000030221 24437 SCN5A NM_198056.2:c.1535C>T NP_932173.1:p.Thr512Ile NM_198056.2:c.1535C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-04-15 OMIM OMIM Progressive familial heart block type 1A;PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA 10807545;11463728;11997281;12569159;12639704;14760;18378609;23788249;23994779;27854360 germline Genetic Alliance:Progressive+familial+heart+block+type+1A/5978;Genetics Home Reference:progressive-familial-heart-block;MedGen:C1879286;OMIM:113900;OMIM:600163.0009;OMIM:600163.0017;OMIM:600163.0018;OMIM:600163.0031;Office of Rare Diseases:1093;Orphanet:871 2008-04-15 +3 38613752 C T 38613752 38613752 - Haplotype 440850 RCV000010010 SCV000030231 24446 SCN5A NM_001099404.1:c.703+223G>A NP_932173.1:p.Val232Ile NM_000335.4:c.694G>A:missense variant;NM_001099404.1:c.703+223G>A:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-08-15 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10532948;15851227;18599870;19841300;20129283;20301690;21810866;23788249;25356965;27854360 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2008-08-15 3 39265671 G A 39265671 39265671 - Haplotype 8152 RCV000008629 SCV000028837 36774 CX3CR1 NM_001171174.1:c.935C>T NP_001164645.1:p.Thr312Met NM_001171174.1:c.935C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-09-05 OMIM OMIM Human immunodeficiency virus type 1, rapid progression to AIDS;HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS 10731151;11264153;12697743;15208270;17909628;23716478 germline MedGen:C4016733 2014-09-05 3 39265671 G A 39265671 39265671 - Haplotype 8152 RCV000008630 SCV000028838 36774 CX3CR1 NM_001171174.1:c.935C>T NP_001164645.1:p.Thr312Met NM_001171174.1:c.935C>T:missense variant protective protective 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-05-18 OMIM OMIM Coronary artery disease, resistance to 10731151;11264153;12697743;15208270;17909628;23716478 germline MedGen:C1832288 2015-05-18 3 39265671 G A 39265671 39265671 - Haplotype 8152 RCV000023109 SCV000044400 36774 CX3CR1 NM_001171174.1:c.935C>T NP_001164645.1:p.Thr312Met NM_001171174.1:c.935C>T:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-12-01 OMIM OMIM MACULAR DEGENERATION, AGE-RELATED, 12, SUSCEPTIBILITY TO 10731151;11264153;12697743;15208270;17909628;23716478 germline OMIM:601470.0001 2013-12-01 @@ -163,15 +175,24 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 3 42691977 G A 42691977 42691977 + Haplotype 228777 RCV000213109 SCV000271889 229064 KLHL40 NM_152393.3:c.1850G>A NP_689606.2:p.Cys617Tyr NM_152393.3:c.1850G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-18 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-18 3 49123179 G A 49123179 49123179 - Haplotype 14535 RCV000015634 SCV000035899 38466 LAMB2 NM_002292.3:c.4177C>T NP_002283.3:p.Leu1393Phe NM_002292.3:c.4177C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-09-01 OMIM OMIM Nephrotic syndrome, type 5, with or without ocular abnormalities;NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES 16912710 germline Genetic Alliance:Nephrotic+syndrome%2C+type+5%2C+with+or+without+ocular+abnormalities/8989;MedGen:C3280113;OMIM:150325.0006;OMIM:150325.0007;OMIM:150325.0008;OMIM:150325.0009;OMIM:150325.0010;OMIM:150325.0011;OMIM:614199;Orphanet:306507 2006-09-01 3 49123216 G T 49123216 49123216 - Haplotype 14535 RCV000015634 SCV000035899 29574 LAMB2 NM_002292.3:c.4140C>A NP_002283.3:p.Asn1380Lys NM_002292.3:c.4140C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-09-01 OMIM OMIM Nephrotic syndrome, type 5, with or without ocular abnormalities;NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES 16912710 germline Genetic Alliance:Nephrotic+syndrome%2C+type+5%2C+with+or+without+ocular+abnormalities/8989;MedGen:C3280113;OMIM:150325.0006;OMIM:150325.0007;OMIM:150325.0008;OMIM:150325.0009;OMIM:150325.0010;OMIM:150325.0011;OMIM:614199;Orphanet:306507 2006-09-01 +3 52786965 A T 52786965 52786965 + Haplotype 14798 RCV000015921 SCV000036188 29837 ITIH1 NM_002215.3:c.1754A>T NP_002206.2:p.Glu585Val NM_002215.3:c.1754A>T:missense variant Benign benign 0 0 0 0 1 no assertion criteria provided no assertion criteria provided 1995-04-01 OMIM OMIM INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM;INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM 7535743 germline OMIM:147270.0001;OMIM:147270.0002;OMIM:147270.0003 1995-04-01 +3 52786995 A G 52786995 52786995 + Haplotype 14798 RCV000015921 SCV000036188 29838 ITIH1 NM_002215.3:c.1784A>G NP_002206.2:p.Gln595Arg NM_002215.3:c.1784A>G:missense variant Benign benign 0 0 0 0 1 no assertion criteria provided no assertion criteria provided 1995-04-01 OMIM OMIM INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM;INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM 7535743 germline OMIM:147270.0001;OMIM:147270.0002;OMIM:147270.0003 1995-04-01 +3 52786995 A G 52786995 52786995 + Haplotype 14799 RCV000015922 SCV000036189 29838 ITIH1 NM_002215.3:c.1784A>G NP_002206.2:p.Gln595Arg NM_002215.3:c.1784A>G:missense variant Benign benign 0 0 0 0 1 no assertion criteria provided no assertion criteria provided 1995-04-01 OMIM OMIM INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM;INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM 7535743 germline OMIM:147270.0001;OMIM:147270.0002;OMIM:147270.0003 1995-04-01 3 64157305 C T 64157305 64157305 - Haplotype 30731 RCV000023709 SCV000045000 39689 PRICKLE2 NM_198859.3:c.457G>A NP_942559.1:p.Val153Ile NM_198859.3:c.457G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2011-02-11 OMIM OMIM Epilepsy, progressive myoclonic 5;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 21276947;26942291;26942292;632821 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+5/8335;MedGen:CN226157;OMIM:613832;Orphanet:402082 2011-02-11 3 64157319 C T 64157319 64157319 - Haplotype 30731 RCV000023709 SCV000045000 39688 PRICKLE2 NM_198859.3:c.443G>A NP_942559.1:p.Arg148His NM_198859.3:c.443G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2011-02-11 OMIM OMIM Epilepsy, progressive myoclonic 5;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 21276947;26942291;26942292;632821 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+5/8335;MedGen:CN226157;OMIM:613832;Orphanet:402082 2011-02-11 3 114339010 C T 114339010 114339010 - Haplotype 253111 RCV000239523 SCV000297909 247522 ZBTB20 NM_001164342.2:c.2221G>A NP_001157814.1:p.Gly741Arg NM_001164342.2:c.2221G>A:missense variant;NR_121662.1:n.883G>A:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Primrose syndrome;PRIMROSE SYNDROME 27061120 germline Genetic Alliance:Primrose+syndrome/5964;MedGen:C0796121;OMIM:259050;Office of Rare Diseases:4488 2016-08-08 3 114339384 G A 114339384 114339384 - Haplotype 253111 RCV000239523 SCV000297909 247523 ZBTB20 NM_001164342.2:c.1847C>T NP_001157814.1:p.Ser616Phe NM_001164342.2:c.1847C>T:missense variant;NR_121662.1:n.509C>T:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Primrose syndrome;PRIMROSE SYNDROME 27061120 germline Genetic Alliance:Primrose+syndrome/5964;MedGen:C0796121;OMIM:259050;Office of Rare Diseases:4488 2016-08-08 3 124735222 A G 124735222 124735222 + Haplotype 11906 RCV000012681 SCV000032916 26945 UMPS NM_000373.3:c.286A>G NP_000364.1:p.Arg96Gly NM_000373.3:c.286A>G:missense variant;NR_033434.1:n.263-2346A>G:intron variant;NR_033437.1:n.491A>G:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-03-01 OMIM OMIM Orotic aciduria;OROTIC ACIDURIA 9042911 germline Genetic Alliance:Orotic+aciduria+hereditary/5431;MedGen:C0268128;OMIM:258900;OMIM:258920;Orphanet:30;SNOMED CT:47641009;SNOMED CT:90093009 1997-03-01 3 124743926 G C 124743926 124743926 + Haplotype 11906 RCV000012681 SCV000032916 38455 UMPS NM_000373.3:c.1285G>C NP_000364.1:p.Gly429Arg NM_000373.3:c.1285G>C:missense variant;NR_033434.1:n.1237G>C:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-03-01 OMIM OMIM Orotic aciduria;OROTIC ACIDURIA 9042911 germline Genetic Alliance:Orotic+aciduria+hereditary/5431;MedGen:C0268128;OMIM:258900;OMIM:258920;Orphanet:30;SNOMED CT:47641009;SNOMED CT:90093009 1997-03-01 +3 179218304 A C 179218304 179218304 + Haplotype 222469 RCV000144511 SCV000189830 28698 PIK3CA NM_006218.3:c.1634A>C NP_006209.2:p.Glu545Ala NM_006218.3:c.1634A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-01-10 OMIM OMIM Cowden syndrome 5;COWDEN SYNDROME 5 23246288 germline MedGen:C3554518;OMIM:615108;Orphanet:201 2013-01-10 +3 179218328 GT C 179218328 179218329 + Haplotype 222469 RCV000144511 SCV000189830 166223 PIK3CA NM_006218.3:c.1658_1659delGTinsC NP_006209.2:p.Ser553Thrfs NM_006218.3:c.1658_1659delGTinsC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-01-10 OMIM OMIM Cowden syndrome 5;COWDEN SYNDROME 5 23246288 germline MedGen:C3554518;OMIM:615108;Orphanet:201 2013-01-10 3 193637313 T C 193637313 193637313 + Haplotype 5089 RCV000005394 SCV000025574 101627 OPA1 NM_015560.2:c.870+32T>C NM_015560.2:c.870+32T>C:intron variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-02-01 OMIM OMIM Glaucoma, normal tension, susceptibility to;GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO 11810296;12073024;17188046;19581274 germline Genetic Alliance:Glaucoma%2C+normal+tension%2C+susceptibility+to/8467;MedGen:C1847730;OMIM:606657 2010-02-01 4 1002767 G C 1002767 1002767 + Haplotype 11911 RCV000012686 SCV000032921 26950 IDUA NM_000203.4:c.1225G>C NP_000194.2:p.Gly409Arg NM_000203.4:c.1225G>C:missense variant;NR_110313.1:n.1313G>C:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-08-01 OMIM OMIM Hurler syndrome;HURLER SYNDROME 20301341;8328452 germline GeneReviews:NBK1162;Genetic Alliance:Mucopolysaccharidosis+type+I/4912;MedGen:C0086795;OMIM:607014 1993-08-01 4 1004393 A T 1004393 1004393 + Haplotype 11911 RCV000012686 SCV000032921 38456 IDUA NM_000203.4:c.1962A>T NP_000194.2:p.Ter654Cys NM_000203.4:c.1962A>T:stop lost;NR_110313.1:n.2054A>T:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-08-01 OMIM OMIM Hurler syndrome;HURLER SYNDROME 20301341;8328452 germline GeneReviews:NBK1162;Genetic Alliance:Mucopolysaccharidosis+type+I/4912;MedGen:C0086795;OMIM:607014 1993-08-01 +4 1804384 T G 1804384 1804384 + Haplotype 441276 RCV000017763 SCV000038041 38477 FGFR3 NM_022965.3:c.931-440T>G NP_001156685.1:p.Leu379Arg NM_000142.4:c.1130T>G:missense variant;NM_022965.3:c.931-440T>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-02-01 OMIM OMIM Achondroplasia;ACHONDROPLASIA 16411219;20301331 gain of function germline GeneReviews:NBK1152;GeneTests:2789;Genetic Alliance:Achondroplasia/113;Genetic Testing Registry (GTR):GTR000017792;Genetic Testing Registry (GTR):GTR000193973;Genetic Testing Registry (GTR):GTR000226127;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000325183;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000332463;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000500431;Genetic Testing Registry (GTR):GTR000501373;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508972;Genetic Testing Registry (GTR):GTR000510685;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000523319;Genetic Testing Registry (GTR):GTR000529586;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000552209;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;Genetic Testing Registry (GTR):GTR000556521;MedGen:C0001080;OMIM:100800;Office of Rare Diseases:8173;Orphanet:15;SNOMED CT:86268005 2006-02-01 +4 1804392 G A 1804392 1804392 + Haplotype 441276 RCV000017763 SCV000038041 31366 FGFR3 NM_022965.3:c.931-432G>A NP_001156685.1:p.Gly382Arg NM_000142.4:c.1138G>A:missense variant;NM_022965.3:c.931-432G>A:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-02-01 OMIM OMIM Achondroplasia;ACHONDROPLASIA 16411219;20301331 gain of function germline GeneReviews:NBK1152;GeneTests:2789;Genetic Alliance:Achondroplasia/113;Genetic Testing Registry (GTR):GTR000017792;Genetic Testing Registry (GTR):GTR000193973;Genetic Testing Registry (GTR):GTR000226127;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000325183;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000332463;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000500431;Genetic Testing Registry (GTR):GTR000501373;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508972;Genetic Testing Registry (GTR):GTR000510685;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000523319;Genetic Testing Registry (GTR):GTR000529586;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000552209;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;Genetic Testing Registry (GTR):GTR000556521;MedGen:C0001080;OMIM:100800;Office of Rare Diseases:8173;Orphanet:15;SNOMED CT:86268005 2006-02-01 +4 1805396 A G 1805396 1805396 + Haplotype 441277 RCV000017771 SCV000038050 38478 FGFR3 NM_001163213.1:c.1460A>G NP_001156685.1:p.Gln487Arg NM_000142.4:c.1454A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-06-01 OMIM OMIM Thanatophoric dysplasia type 1;THANATOPHORIC DYSPLASIA, TYPE I 19449430;20301540 gain of function germline GeneReviews:NBK1366;Genetic Alliance:Thanatophoric+dysplasia+type+1/7051;Genetic Testing Registry (GTR):GTR000226129;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000327813;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508990;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000530324;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;MedGen:C1868678;OMIM:187600;Office of Rare Diseases:9295;Orphanet:1860;Orphanet:2655 2009-06-01 +4 1805644 C A 1805644 1805644 + Haplotype 441277 RCV000017771 SCV000038050 31376 FGFR3 NM_001163213.1:c.1626C>A NP_001156685.1:p.Asn542Lys NM_000142.4:c.1620C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-06-01 OMIM OMIM Thanatophoric dysplasia type 1;THANATOPHORIC DYSPLASIA, TYPE I 19449430;20301540 gain of function germline GeneReviews:NBK1366;Genetic Alliance:Thanatophoric+dysplasia+type+1/7051;Genetic Testing Registry (GTR):GTR000226129;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000327813;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508990;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000530324;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;MedGen:C1868678;OMIM:187600;Office of Rare Diseases:9295;Orphanet:1860;Orphanet:2655 2009-06-01 4 70033186 G A 70033186 70033186 + Haplotype 14913 RCV000016048 SCV000036315 38467 HTN3 NM_000200.2:c.122G>A NP_000191.1:p.Arg41Gln NM_000200.2:c.122G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1994-01-01 OMIM OMIM HIS2*1/HIS2*2 POLYMORPHISM;HIS2*1/HIS2*2 POLYMORPHISM 7951254 germline OMIM:142702.0001 1994-01-01 4 70033205 T A 70033205 70033205 + Haplotype 14913 RCV000016048 SCV000036315 29952 HTN3 NM_000200.2:c.141T>A NP_000191.1:p.Tyr47Ter NM_000200.2:c.141T>A:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1994-01-01 OMIM OMIM HIS2*1/HIS2*2 POLYMORPHISM;HIS2*1/HIS2*2 POLYMORPHISM 7951254 germline OMIM:142702.0001 1994-01-01 4 102267916 C G 102267916 102267916 - Haplotype 218898 RCV000203237 SCV000258313 215658 SLC39A8 NM_022154.5:c.1004G>C NP_071437.3:p.Ser335Thr NM_022154.5:c.1004G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-12-03 OMIM OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn 26637979 germline MedGen:C4225234;OMIM:608732.0001;OMIM:608732.0002;OMIM:608732.0003;OMIM:608732.0004;OMIM:616721 2015-12-03 @@ -184,16 +205,17 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 5 1272196 C T 1272196 1272196 - Haplotype 36946 RCV000030627 SCV000053305 45603 TERT NM_198253.2:c.2371G>A NP_937983.2:p.Val791Ile NM_198253.2:c.2371G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-03-01 OMIM OMIM Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;PULMONARY FIBROSIS, TELOMERE-RELATED, 1 21483807 germline MedGen:C3553617;OMIM:187270.0001;OMIM:187270.0002;OMIM:187270.0003;OMIM:187270.0004;OMIM:187270.0005;OMIM:187270.0008;OMIM:187270.0009;OMIM:187270.0010;OMIM:187270.0015;OMIM:187270.0016;OMIM:187270.0017;OMIM:614742;Orphanet:88 2011-03-01 5 41853435 A T 41853435 41853435 - Haplotype 8165 RCV000008643 SCV000028852 38389 OXCT1 NM_000436.3:c.398T>A NP_000427.1:p.Val133Glu NM_000436.3:c.398T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-01-01 OMIM OMIM Succinyl-CoA acetoacetate transferase deficiency;SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY 9671268 germline Genetic Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918;MedGen:C0342792;OMIM:245050;Office of Rare Diseases:5057;Orphanet:832;SNOMED CT:238004006 1998-01-01 5 41862656 G A 41862656 41862656 - Haplotype 8165 RCV000008643 SCV000028852 23204 OXCT1 NM_000436.3:c.173C>T NP_000427.1:p.Thr58Met NM_000436.3:c.173C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-01-01 OMIM OMIM Succinyl-CoA acetoacetate transferase deficiency;SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY 9671268 germline Genetic Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918;MedGen:C0342792;OMIM:245050;Office of Rare Diseases:5057;Orphanet:832;SNOMED CT:238004006 1998-01-01 -5 112707523 A C 112707523 112707523 + Haplotype 243004 RCV000234986 SCV000292335 244097 APC NM_001127511.2:c.-195A>C NM_001127511.2:c.-195A>C:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-12 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 -5 112707592 GA G 112707593 112707593 + Haplotype 243004 RCV000234986 SCV000292335 244084 APC NM_001127511.2:c.-125delA NM_001127511.2:c.-125delA:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-12 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 +5 112707523 A C 112707523 112707523 + Haplotype 243004 RCV000234986 SCV000292335 244097 APC NM_001127511.2:c.-195A>C NM_001127511.2:c.-195A>C:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-12 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;Genetic Testing Registry (GTR):GTR000558907;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 +5 112707592 GA G 112707593 112707593 + Haplotype 243004 RCV000234986 SCV000292335 244084 APC NM_001127511.2:c.-125delA NM_001127511.2:c.-125delA:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-12 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;Genetic Testing Registry (GTR):GTR000558907;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 5 136056754 C A 136056754 136056754 + Haplotype 7874 RCV000008323 SCV000028531 22913 TGFBI NM_000358.2:c.1637C>A NP_000349.1:p.Ala546Asp NM_000358.2:c.1637C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-11-01 OMIM OMIM Lattice corneal dystrophy Type I;CORNEAL DYSTROPHY, LATTICE TYPE I 15111592;15531312 germline Genetic Alliance:Lattice+corneal+dystrophy+type+1/4117;Genetics Home Reference:lattice-corneal-dystrophy-type-i;MedGen:C1690006;OMIM:122200;Office of Rare Diseases:9678;Orphanet:98964;SNOMED CT:419197009 2004-11-01 5 136056769 C A 136056769 136056769 + Haplotype 7874 RCV000008323 SCV000028531 38388 TGFBI NM_000358.2:c.1652C>A NP_000349.1:p.Pro551Gln NM_000358.2:c.1652C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-11-01 OMIM OMIM Lattice corneal dystrophy Type I;CORNEAL DYSTROPHY, LATTICE TYPE I 15111592;15531312 germline Genetic Alliance:Lattice+corneal+dystrophy+type+1/4117;Genetics Home Reference:lattice-corneal-dystrophy-type-i;MedGen:C1690006;OMIM:122200;Office of Rare Diseases:9678;Orphanet:98964;SNOMED CT:419197009 2004-11-01 +5 172350405 GC G 172350406 172350406 - Distinct chromosomes 488055 RCV000577875 SCV000583573 15228 SH3PXD2B NM_001017995.2:c.969delG NP_001017995.1:p.Arg324Glyfs NM_001017995.2:c.969delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Frank Ter Haar syndrome;Opsismodysplasia 1;20137777;29276006 unknown Genetic Alliance:Frank+Ter+Haar+Syndrome/2915;Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;MedGen:C1855305;OMIM:249420;OMIM:258480;Office of Rare Diseases:4098;Office of Rare Diseases:5138;Orphanet:137834;Orphanet:2746;SNOMED CT:254068007 2017-06-01 5 177515002 G T 177515002 177515002 - Haplotype 403734 RCV000465916 SCV000541081 390711 DDX41 NM_016222.3:c.712C>A NP_057306.2:p.Pro238Thr NM_016222.3:c.712C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Acute myeloid leukemia;Myelodysplasia 20963938;22138009;23970018;26944477 germline GeneReviews:NBK47457;Genetic Testing Registry (GTR):GTR000500636;Human Phenotype Ontology:HP:0002863;Human Phenotype Ontology:HP:0004832;Human Phenotype Ontology:HP:0006730;MeSH:D015470;MedGen:C0023467;MedGen:C1851971;OMIM:601626;Orphanet:519;SNOMED CT:17788007 0000-00-00 5 177515003 C A 177515003 177515003 - Haplotype 403734 RCV000465916 SCV000541081 390712 DDX41 NM_016222.3:c.711G>T NP_057306.2:p.Leu237Phe NM_016222.3:c.711G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Acute myeloid leukemia;Myelodysplasia 20963938;22138009;23970018;26944477 germline GeneReviews:NBK47457;Genetic Testing Registry (GTR):GTR000500636;Human Phenotype Ontology:HP:0002863;Human Phenotype Ontology:HP:0004832;Human Phenotype Ontology:HP:0006730;MeSH:D015470;MedGen:C0023467;MedGen:C1851971;OMIM:601626;Orphanet:519;SNOMED CT:17788007 0000-00-00 6 10874380 A T 10874380 10874380 - Haplotype 375590 RCV000417072 SCV000494617 362401 GCM2 NM_004752.3:c.1136T>A NP_004743.1:p.Leu379Gln NM_004752.3:c.1136T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-10 OMIM OMIM Hyperparathyroidism 4;HYPERPARATHYROIDISM 4 27745835 germline MedGen:CN240514;OMIM:617343 2017-02-10 6 10874765 G C 10874765 10874765 - Haplotype 375590 RCV000417072 SCV000494617 362400 GCM2 NM_004752.3:c.751C>G NP_004743.1:p.Gln251Glu NM_004752.3:c.751C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-10 OMIM OMIM Hyperparathyroidism 4;HYPERPARATHYROIDISM 4 27745835 germline MedGen:CN240514;OMIM:617343 2017-02-10 -6 18130687 T C 18130687 18130687 - Haplotype 12722 RCV000013559 SCV000033806 27764 TPMT NM_000367.4:c.719A>G NP_000358.1:p.Tyr240Cys NM_000367.4:c.719A>G:missense variant drug response drug response 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-06-28 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 -6 18138997 C T 18138997 18138997 - Haplotype 12722 RCV000013559 SCV000033806 27761 TPMT NM_000367.4:c.460G>A NP_000358.1:p.Ala154Thr NM_000367.4:c.460G>A:missense variant drug response drug response 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-06-28 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 +6 18130687 T C 18130687 18130687 - Haplotype 12722 RCV000013559 SCV000033806 27764 TPMT NM_000367.4:c.719A>G NP_000358.1:p.Tyr240Cys NM_000367.4:c.719A>G:missense variant drug response drug response 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-06-28 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;Genetic Testing Registry (GTR):GTR000558523;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 +6 18138997 C T 18138997 18138997 - Haplotype 12722 RCV000013559 SCV000033806 27761 TPMT NM_000367.4:c.460G>A NP_000358.1:p.Ala154Thr NM_000367.4:c.460G>A:missense variant drug response drug response 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-06-28 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;Genetic Testing Registry (GTR):GTR000558523;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 6 32039807 T A 32039807 32039807 + Haplotype 31662 RCV000012947 SCV000033191 33507 CYP21A2 NM_000500.7:c.710T>A NP_000491.4:p.Ile237Asn NM_000500.7:c.710T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-04-01 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE 15623806;20301350;2249999;2845408 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2005-04-01 6 32039810 T A 32039810 32039810 + Haplotype 31662 RCV000012947 SCV000033191 27212 CYP21A2 NM_000500.7:c.713T>A NP_000491.4:p.Val238Glu NM_000500.7:c.713T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-04-01 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE 15623806;20301350;2249999;2845408 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2005-04-01 6 32039810 T A 32039810 32039810 + Haplotype 65613 RCV000055823 SCV000086807 27212 CYP21A2 NM_000500.7:c.713T>A NP_000491.4:p.Val238Glu NM_000500.7:c.713T>A:missense variant Pathogenic pathologic 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-08-29 GeneReviews GeneReviews 21-hydroxylase deficiency;21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 20301350 not provided GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2013-08-29 @@ -211,19 +233,19 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 6 52452776 G A 52452776 52452776 + Haplotype 2067 RCV000002148 SCV000022306 38421 EFHC1 NM_018100.3:c.662G>A NP_060570.2:p.Arg221His NM_018100.3:c.662G>A:missense variant;NR_033327.1:n.877G>A:non-coding transcript variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-08-01 OMIM OMIM Myoclonic epilepsy, juvenile 1;MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1 12439895;15258581 germline 2004-08-01 6 129280071 A C 129280071 129280071 + Haplotype 190218 RCV000170437 SCV000222875 188050 LAMA2 NM_000426.3:c.2461A>C NP_000417.2:p.Thr821Pro NM_000426.3:c.2461A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-04-08 Mendelics Analise Genomica Mendelics Analise Genomica Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468;21078917;22420014;22675738 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 2015-04-08 6 129502696 T C 129502696 129502696 + Haplotype 190218 RCV000170437 SCV000222875 188051 LAMA2 NM_000426.3:c.8282T>C NP_000417.2:p.Ile2761Thr NM_000426.3:c.8282T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-04-08 Mendelics Analise Genomica Mendelics Analise Genomica Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468;21078917;22420014;22675738 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 2015-04-08 -6 146399690 GGAA G 146399691 146399693 + Haplotype 37204 RCV000030784 SCV000053445 45814 GRM1 NM_001278064.1:c.2652_2654delGAA NP_001264993.1:p.Asn885del Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-09-07 OMIM OMIM Spinocerebellar ataxia, autosomal recessive 13;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 22901947 germline MedGen:C3553816;OMIM:614831;Orphanet:324262 2012-09-07 -6 146399701 T C 146399701 146399701 + Haplotype 37204 RCV000030784 SCV000053445 434131 GRM1 NM_001278064.1:c.2660+2T>C NM_001278064.1:c.2660+2T>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-09-07 OMIM OMIM Spinocerebellar ataxia, autosomal recessive 13;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 22901947 germline MedGen:C3553816;OMIM:614831;Orphanet:324262 2012-09-07 +6 146399690 GGAA G 146399691 146399693 + Haplotype 453266 RCV000030784 SCV000053445 45814 GRM1 NM_001278064.1:c.2652_2654delGAA NP_001264993.1:p.Asn885del Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-09-07 OMIM OMIM Spinocerebellar ataxia, autosomal recessive 13;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 22901947 germline MedGen:C3553816;OMIM:614831;Orphanet:324262 2012-09-07 +6 146399701 T C 146399701 146399701 + Haplotype 453266 RCV000030784 SCV000053445 434131 GRM1 NM_001278064.1:c.2660+2T>C NM_001278064.1:c.2660+2T>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-09-07 OMIM OMIM Spinocerebellar ataxia, autosomal recessive 13;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 22901947 germline MedGen:C3553816;OMIM:614831;Orphanet:324262 2012-09-07 6 152376443 C T 152376443 152376443 - Haplotype 92124 RCV000077790 SCV000109616 97550 SYNE1 NM_033071.3:c.9283G>A NP_149062.1:p.Ala3095Thr NM_182961.3:c.9262G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2013-12-01 OMIM OMIM Intellectual functioning disability;VARIANT OF UNKNOWN SIGNIFICANCE 21956720;24123876 germline MedGen:C0025362;SNOMED CT:228156007;SNOMED CT:91138005 2013-12-01 6 152463486 T C 152463486 152463486 - Haplotype 92124 RCV000077790 SCV000109616 97551 SYNE1 NM_033071.3:c.1985A>G NP_149062.1:p.Gln662Arg NM_182961.3:c.1964A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2013-12-01 OMIM OMIM Intellectual functioning disability;VARIANT OF UNKNOWN SIGNIFICANCE 21956720;24123876 germline MedGen:C0025362;SNOMED CT:228156007;SNOMED CT:91138005 2013-12-01 7 87443683 G C 87443683 87443683 - Haplotype 217883 RCV000201938 SCV000256879 214536 ABCB4 NM_018849.2:c.1210C>G NP_061337.1:p.Pro404Ala NM_018849.2:c.1210C>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2014-07-25 Mendelics Analise Genomica Mendelics Analise Genomica Progressive familial intrahepatic cholestasis 3 17726488;9419367 germline Genetic Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351;Genetics Home Reference:progressive-familial-intrahepatic-cholestasis;MedGen:C1865643;OMIM:602347;Office of Rare Diseases:1289;Orphanet:79305 2014-07-25 7 87453049 C T 87453049 87453049 - Haplotype 217883 RCV000201938 SCV000256879 214537 ABCB4 NM_018849.2:c.431G>A NP_061337.1:p.Arg144Gln NM_018849.2:c.431G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2014-07-25 Mendelics Analise Genomica Mendelics Analise Genomica Progressive familial intrahepatic cholestasis 3 17726488;9419367 germline Genetic Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351;Genetics Home Reference:progressive-familial-intrahepatic-cholestasis;MedGen:C1865643;OMIM:602347;Office of Rare Diseases:1289;Orphanet:79305 2014-07-25 7 107695963 A C 107695963 107695963 + Haplotype 4816 RCV000005085 SCV000025261 38434 SLC26A4 NM_000441.1:c.1468A>C NP_000432.1:p.Ile490Leu NM_000441.1:c.1468A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-07-01 OMIM OMIM Enlarged vestibular aqueduct syndrome;DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 18310264;20301607;20301640;9500541 germline GeneReviews:NBK1467;Genetic Alliance:Enlarged+Vestibular+Aqueduct+Syndrome/2542;Genetic Testing Registry (GTR):GTR000500213;MedGen:C1863752;OMIM:600791;OMIM:601093.0001;OMIM:601093.0002;OMIM:602208.0008;OMIM:602208.0009;OMIM:605646.0004;OMIM:605646.0009;OMIM:605646.0010;OMIM:605646.0011;OMIM:605646.0012;OMIM:605646.0013;OMIM:605646.0014;OMIM:605646.0015;OMIM:605646.0027;OMIM:605646.0028;OMIM:605646.0029;OMIM:605646.0030;OMIM:605646.0031;Office of Rare Diseases:8651;Orphanet:90636 2008-07-01 7 107695984 G A 107695984 107695984 + Haplotype 4816 RCV000005085 SCV000025261 19855 SLC26A4 NM_000441.1:c.1489G>A NP_000432.1:p.Gly497Ser NM_000441.1:c.1489G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-07-01 OMIM OMIM Enlarged vestibular aqueduct syndrome;DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 18310264;20301607;20301640;9500541 germline GeneReviews:NBK1467;Genetic Alliance:Enlarged+Vestibular+Aqueduct+Syndrome/2542;Genetic Testing Registry (GTR):GTR000500213;MedGen:C1863752;OMIM:600791;OMIM:601093.0001;OMIM:601093.0002;OMIM:602208.0008;OMIM:602208.0009;OMIM:605646.0004;OMIM:605646.0009;OMIM:605646.0010;OMIM:605646.0011;OMIM:605646.0012;OMIM:605646.0013;OMIM:605646.0014;OMIM:605646.0015;OMIM:605646.0027;OMIM:605646.0028;OMIM:605646.0029;OMIM:605646.0030;OMIM:605646.0031;Office of Rare Diseases:8651;Orphanet:90636 2008-07-01 -7 117530975 G A 117530975 117530975 + Haplotype 209047 RCV000190992 SCV000245925 22148 CFTR NM_000492.3:c.350G>A NP_000483.3:p.Arg117His NM_000492.3:c.350G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 reviewed by expert panel reviewed by expert panel 0000-00-00 CFTR2 CFTR2 Cystic fibrosis;Cystic fibrosis 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;23974870;24014130;25431289;25981758 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 0000-00-00 -7 117540305 C A 117540305 117540305 + Haplotype 40200 RCV000007589 SCV000027790 22208 CFTR NM_000492.3:c.1075C>A NP_000483.3:p.Gln359Lys NM_000492.3:c.1075C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-01-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 -7 117540309 C A 117540309 117540309 + Haplotype 40200 RCV000007589 SCV000027790 38441 CFTR NM_000492.3:c.1079C>A NP_000483.3:p.Thr360Lys NM_000492.3:c.1079C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-01-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 -7 117603609 C T 117603609 117603609 + Haplotype 7239 RCV000007661 SCV000027862 22244 CFTR NM_000492.3:c.2735C>T NP_000483.3:p.Ser912Leu NM_000492.3:c.2735C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-05-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 -7 117642451 G T 117642451 117642451 + Haplotype 7239 RCV000007661 SCV000027862 22278 CFTR NM_000492.3:c.3731G>T NP_000483.3:p.Gly1244Val NM_000492.3:c.3731G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-05-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 +7 117530975 G A 117530975 117530975 + Haplotype 209047 RCV000190992 SCV000245925 22148 CFTR NM_000492.3:c.350G>A NP_000483.3:p.Arg117His NM_000492.3:c.350G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 reviewed by expert panel reviewed by expert panel 0000-00-00 CFTR2 CFTR2 Cystic fibrosis;Cystic fibrosis 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;23974870;24014130;25431289;25981758 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 0000-00-00 +7 117540305 C A 117540305 117540305 + Haplotype 40200 RCV000007589 SCV000027790 22208 CFTR NM_000492.3:c.1075C>A NP_000483.3:p.Gln359Lys NM_000492.3:c.1075C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-01-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 +7 117540309 C A 117540309 117540309 + Haplotype 40200 RCV000007589 SCV000027790 38441 CFTR NM_000492.3:c.1079C>A NP_000483.3:p.Thr360Lys NM_000492.3:c.1079C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-01-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 +7 117603609 C T 117603609 117603609 + Haplotype 7239 RCV000007661 SCV000027862 22244 CFTR NM_000492.3:c.2735C>T NP_000483.3:p.Ser912Leu NM_000492.3:c.2735C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-05-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 +7 117642451 G T 117642451 117642451 + Haplotype 7239 RCV000007661 SCV000027862 22278 CFTR NM_000492.3:c.3731G>T NP_000483.3:p.Gly1244Val NM_000492.3:c.3731G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-05-01 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 8 1771262 C T 1771262 1771262 + Haplotype 217887 RCV000201947 SCV000256883 214538 CLN8 NM_018941.3:c.208C>T NP_061764.2:p.Arg70Cys NM_018941.3:c.208C>T:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2014-08-18 Mendelics Analise Genomica Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 8 16570191;20301601 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 2014-08-18 8 1780498 C G 1780498 1780498 + Haplotype 217887 RCV000201947 SCV000256883 106601 CLN8 NM_018941.3:c.792C>G NP_061764.2:p.Asn264Lys NM_018941.3:c.792C>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2014-08-18 Mendelics Analise Genomica Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 8 16570191;20301601 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 2014-08-18 8 31064934 A T 31064934 31064934 + Haplotype 5453 RCV000005786 SCV000025968 20492 WRN NM_000553.5:c.375A>T NP_000544.2:p.Lys125Asn NM_000553.5:c.375A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-06-01 OMIM OMIM Werner syndrome;WERNER SYNDROME 16673358;20301687;22258520 germline GeneReviews:NBK1514;Genetic Alliance:Werner%27s+syndrome/7471;Genetics Home Reference:werner-syndrome;MedGen:C0043119;OMIM:277700;Office of Rare Diseases:7885;Orphanet:902;SNOMED CT:51626007 2006-06-01 @@ -242,20 +264,23 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 9 34649445 A G 34649445 34649445 + Haplotype 3620 RCV000003804 SCV000023969 18652 GALT NM_000155.3:c.940A>G NP_000146.2:p.Asn314Asp NM_000155.3:c.940A>G:missense variant Benign benign 0 0 0 0 1 no assertion criteria provided no assertion criteria provided 2009-05-01 OMIM OMIM GALT POLYMORPHISM (LOS ANGELES, D1);GALT POLYMORPHISM (LOS ANGELES, D1) 10408771;10424825;19224951;2011574;4759900;8522334;9012409 germline OMIM:606999.0012 2009-05-01 9 37424830 TCC T 37424832 37424833 + Haplotype 204246 RCV000186453 SCV000239808 200618 GRHPR NM_012203.1:c.84-13_84-12delCC NM_012203.1:c.84-13_84-12delCC:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-11-27 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type II;Primary hyperoxaluria, type II 14635115;20301742 loss of function germline GeneReviews:NBK2692;Genetic Alliance:Primary+hyperoxaluria+type+2/5948;Genetic Testing Registry (GTR):GTR000118462;Genetic Testing Registry (GTR):GTR000507682;Genetic Testing Registry (GTR):GTR000522211;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268165;OMIM:260000;Office of Rare Diseases:2836;Orphanet:416;Orphanet:93599;SNOMED CT:40951006 2014-11-27 9 37424836 TCCCC T 37424837 37424840 + Haplotype 204246 RCV000186453 SCV000239808 200619 GRHPR NM_012203.1:c.84-8_84-5delCCCC NM_012203.1:c.84-8_84-5delCCCC:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-11-27 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type II;Primary hyperoxaluria, type II 14635115;20301742 loss of function germline GeneReviews:NBK2692;Genetic Alliance:Primary+hyperoxaluria+type+2/5948;Genetic Testing Registry (GTR):GTR000118462;Genetic Testing Registry (GTR):GTR000507682;Genetic Testing Registry (GTR):GTR000522211;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268165;OMIM:260000;Office of Rare Diseases:2836;Orphanet:416;Orphanet:93599;SNOMED CT:40951006 2014-11-27 -9 98578034 T C 98578034 98578034 - Haplotype 3331 RCV000003495 SCV000023653 18370 GABBR2 NM_005458.7:c.360A>G NP_005449.5:p.Ala120= NM_005458.7:c.360A>G:synonymous variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-06-09 OMIM OMIM Tobacco addiction, susceptibility to;NICOTINE DEPENDENCE, SUSCEPTIBILITY TO 15759211 germline Genetic Alliance:Tobacco+addiction%2C+susceptibility+to/9410;MedGen:C1861063;OMIM:188890;OMIM:607340.0001;OMIM:607340.0002 2010-06-09 +9 98578034 T C 98578034 98578034 - Haplotype 3331 RCV000003495 SCV000023653 18370 GABBR2 NM_005458.7:c.360A>G NP_005449.5:p.Ala120= NM_005458.7:c.360A>G:synonymous variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-05-01 OMIM OMIM Tobacco addiction, susceptibility to;NICOTINE DEPENDENCE, SUSCEPTIBILITY TO 15759211 germline Genetic Alliance:Tobacco+addiction%2C+susceptibility+to/9410;MedGen:C1861063;OMIM:188890;OMIM:607340.0001;OMIM:607340.0002 2005-05-01 9 124500574 G A 124500574 124500574 - Haplotype 12809 RCV000013657 SCV000033904 38458 NR5A1 NM_004959.4:c.386C>T NP_004950.2:p.Pro129Leu NM_004959.4:c.386C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-10-08 OMIM OMIM Premature ovarian failure 7;PREMATURE OVARIAN FAILURE 7 19246354;20887963 germline Genetic Alliance:Premature+ovarian+failure+7/9153;MedGen:C2751825;OMIM:612964 2010-10-08 9 124500574 G A 124500574 124500574 - Haplotype 12809 RCV000022775 SCV000044064 38458 NR5A1 NM_004959.4:c.386C>T NP_004950.2:p.Pro129Leu NM_004959.4:c.386C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-10-08 OMIM OMIM Spermatogenic failure 8 19246354;20887963 germline Genetic Alliance:Spermatogenic+failure+8/9327;MedGen:C3151406;OMIM:613957 2010-10-08 9 124500592 C G 124500592 124500592 - Haplotype 12809 RCV000013657 SCV000033904 27848 NR5A1 NM_004959.4:c.368G>C NP_004950.2:p.Gly123Ala NM_004959.4:c.368G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-10-08 OMIM OMIM Premature ovarian failure 7;PREMATURE OVARIAN FAILURE 7 19246354;20887963 germline Genetic Alliance:Premature+ovarian+failure+7/9153;MedGen:C2751825;OMIM:612964 2010-10-08 9 124500592 C G 124500592 124500592 - Haplotype 12809 RCV000022775 SCV000044064 27848 NR5A1 NM_004959.4:c.368G>C NP_004950.2:p.Gly123Ala NM_004959.4:c.368G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-10-08 OMIM OMIM Spermatogenic failure 8 19246354;20887963 germline Genetic Alliance:Spermatogenic+failure+8/9327;MedGen:C3151406;OMIM:613957 2010-10-08 +9 132327718 G A 132327718 132327718 - Haplotype 441281 RCV000002384 SCV000022542 38425 SETX NM_015046.5:c.3880C>T NP_055861.3:p.Arg1294Cys NM_015046.5:c.3880C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-05-23 OMIM OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 16717225;20050888;20301317;20301333 germline GeneReviews:NBK1154;Genetic Alliance:Spinocerebellar+ataxia+autosomal+recessive+1/6771;Genetics Home Reference:ataxia-with-oculomotor-apraxia;MedGen:C1853761;OMIM:606002;Office of Rare Diseases:4949;Orphanet:64753 2006-05-23 9 132327789 G A 132327789 132327789 - Phase unknown 157525 RCV000144869 SCV000172140 167387 SETX NM_015046.5:c.3809C>T NP_055861.3:p.Pro1270Leu NM_015046.5:c.3809C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2013-11-01 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 9 132328521 C CTCA 132328522 132328523 Distinct chromosomes 157528 RCV000144873 SCV000172145 167390 REEP1 NM_015046.5:c.3075_3076insTGA NP_055861.3:p.Arg1026_Lys1360delinsTer NM_015046.5:c.3075_3076insTGA:inframe_variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2013-11-01 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type|spasticity;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 +9 132329641 G T 132329641 132329641 - Haplotype 441280 RCV000002383 SCV000022541 38424 SETX NM_015046.5:c.1957C>A NP_055861.3:p.Gln653Lys NM_015046.5:c.1957C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2007-01-01 OMIM OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 17096168;20050888;20301317;20301333 germline GeneReviews:NBK1154;Genetic Alliance:Spinocerebellar+ataxia+autosomal+recessive+1/6771;Genetics Home Reference:ataxia-with-oculomotor-apraxia;MedGen:C1853761;OMIM:606002;Office of Rare Diseases:4949;Orphanet:64753 2007-01-01 +9 132329791 T C 132329791 132329791 - Haplotype 441280 RCV000002383 SCV000022541 17332 SETX NM_015046.5:c.1807A>G NP_055861.3:p.Asn603Asp NM_015046.5:c.1807A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2007-01-01 OMIM OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 17096168;20050888;20301317;20301333 germline GeneReviews:NBK1154;Genetic Alliance:Spinocerebellar+ataxia+autosomal+recessive+1/6771;Genetics Home Reference:ataxia-with-oculomotor-apraxia;MedGen:C1853761;OMIM:606002;Office of Rare Diseases:4949;Orphanet:64753 2007-01-01 9 132349370 C T 132349370 132349370 - Phase unknown 157525 RCV000144869 SCV000172140 167386 SETX NM_015046.5:c.59G>A NP_055861.3:p.Arg20His NM_015046.5:c.59G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2013-11-01 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 9 133255928 C G 133255928 133255928 - Haplotype 17738 RCV000019312 SCV000039601 38414 ABO NM_020469.2:c.803G>C NP_065202.2:p.Gly268Ala NM_020469.2:c.803G>C:missense variant association association 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-05-18 OMIM OMIM ABO blood group system;ABO BLOOD GROUP SYSTEM, CIS-AB PHENOTYPE 14170898;6775529;8456556 germline MedGen:C0000778;OMIM:110300.0001;OMIM:110300.0002;OMIM:110300.0003;OMIM:110300.0004;OMIM:110300.0005;OMIM:616093;SNOMED CT:63915006 2015-05-18 9 133256264 G A 133256264 133256264 - Haplotype 17738 RCV000019312 SCV000039601 32777 ABO NM_020469.2:c.467C>T NP_065202.2:p.Pro156Leu NM_020469.2:c.467C>T:missense variant association association 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-05-18 OMIM OMIM ABO blood group system;ABO BLOOD GROUP SYSTEM, CIS-AB PHENOTYPE 14170898;6775529;8456556 germline MedGen:C0000778;OMIM:110300.0001;OMIM:110300.0002;OMIM:110300.0003;OMIM:110300.0004;OMIM:110300.0005;OMIM:616093;SNOMED CT:63915006 2015-05-18 9 133436862 C G 133436862 133436862 + Haplotype 5813 RCV000006169 SCV000026351 20852 ADAMTS13 NM_139025.4:c.1342C>G NP_620594.1:p.Gln448Glu NM_139025.4:c.1342C>G:missense variant;NR_024514.2:n.993-2504C>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-09-03 OMIM OMIM Upshaw-Schulman syndrome;THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL 12181489 germline Genetic Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089;Genetics Home Reference:thrombotic-thrombocytopenic-purpura;MedGen:C1268935;OMIM:274150;Office of Rare Diseases:9430;SNOMED CT:373420004 2002-09-03 9 133437836 G A 133437836 133437836 + Haplotype 5813 RCV000006169 SCV000026351 38438 ADAMTS13 NM_139025.4:c.1523G>A NP_620594.1:p.Cys508Tyr NM_139025.4:c.1523G>A:missense variant;NR_024514.2:n.993-1530G>A:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-09-03 OMIM OMIM Upshaw-Schulman syndrome;THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL 12181489 germline Genetic Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089;Genetics Home Reference:thrombotic-thrombocytopenic-purpura;MedGen:C1268935;OMIM:274150;Office of Rare Diseases:9430;SNOMED CT:373420004 2002-09-03 -9 133636672 G A 133636672 133636672 + Haplotype 1752 RCV000001822 SCV000021978 16791 DBH NM_000787.3:c.301G>A NP_000778.3:p.Val101Met NM_000787.3:c.301G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-03-01 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C1857209;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 -9 133647854 G A 133647854 133647854 + Haplotype 1752 RCV000001822 SCV000021978 38418 DBH NM_000787.3:c.1033G>A NP_000778.3:p.Asp345Asn NM_000787.3:c.1033G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-03-01 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C1857209;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 +9 133636672 G A 133636672 133636672 + Haplotype 1752 RCV000001822 SCV000021978 16791 DBH NM_000787.3:c.301G>A NP_000778.3:p.Val101Met NM_000787.3:c.301G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-03-01 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C0342687;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 +9 133647854 G A 133647854 133647854 + Haplotype 1752 RCV000001822 SCV000021978 38418 DBH NM_000787.3:c.1033G>A NP_000778.3:p.Asp345Asn NM_000787.3:c.1033G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2002-03-01 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C0342687;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 10 43114496 G C 43114496 43114496 + Haplotype 13906 RCV000014920 SCV000035176 28945 RET NM_020975.4:c.1896G>C NP_066124.1:p.Glu632Asp NM_020975.4:c.1896G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1994-01-01 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 10 43114497 C G 43114497 43114497 + Haplotype 13906 RCV000014920 SCV000035176 38399 RET NM_020975.4:c.1897C>G NP_066124.1:p.Leu633Val NM_020975.4:c.1897C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1994-01-01 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 10 43114500 T C 43114500 43114500 + Haplotype 13906 RCV000014920 SCV000035176 28956 RET NM_020975.4:c.1900T>C NP_066124.1:p.Cys634Arg NM_020975.4:c.1900T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1994-01-01 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 @@ -273,50 +298,52 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 10 119030627 CG TA 119030627 119030628 + Haplotype 65392 RCV000055619 SCV000083844 76327 NANOS1 NM_199461.3:c.826_827delCGinsTA NP_955631.1:p.Arg276Tyr NM_199461.3:c.826_827delCGinsTA:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-03-01 OMIM OMIM Spermatogenic failure 12;SPERMATOGENIC FAILURE 12 23315541 germline MedGen:C3809427;OMIM:615413 2013-03-01 10 133526101 G C 133526101 133526101 + Haplotype 16887 RCV000018383 SCV000038665 136523 CYP2E1 NM_000773.3:c.-1295G>C NM_000773.3:c.-1295G>C:2KB upstream variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-04-20 OMIM OMIM CYP2E1*5B ALLELE;CYP2E1*5B ALLELE 10543395;1778977;19444287 germline OMIM:124040.0001 2016-04-20 10 133526341 C T 133526341 133526341 + Haplotype 16887 RCV000018383 SCV000038665 136524 CYP2E1 NM_000773.3:c.-1055C>T NM_000773.3:c.-1055C>T:2KB upstream variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-04-20 OMIM OMIM CYP2E1*5B ALLELE;CYP2E1*5B ALLELE 10543395;1778977;19444287 germline OMIM:124040.0001 2016-04-20 -11 5225609 T A 5225609 5225609 - Haplotype 15617 RCV000016884 SCV000037154 38409 HBB NM_000518.4:c.433A>T NP_000509.1:p.Lys145Ter NM_000518.4:c.433A>T:nonsense other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 -11 5225614 G A 5225614 5225614 - Haplotype 15337 RCV000016580 SCV000036849 38472 HBB NM_000518.4:c.428C>T NP_000509.1:p.Ala143Val NM_000518.4:c.428C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-01-01 OMIM OMIM HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (TRAVIS) 1634360;19257 germline OMIM:141900.0247 1992-01-01 -11 5225618 G C 5225618 5225618 - Haplotype 15617 RCV000016884 SCV000037154 30656 HBB NM_000518.4:c.424C>G NP_000509.1:p.Leu142Val NM_000518.4:c.424C>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 -11 5225675 A G 5225675 5225675 - Haplotype 15581 RCV000016848 SCV000037118 30619 HBB NM_000518.4:c.367T>C NP_000509.1:p.Phe123Leu NM_000518.4:c.367T>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 -11 5225678 C G 5225678 5225678 - Haplotype 15366 RCV000016617 SCV000036886 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN T (CAMBODIA) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0276 2016-07-20 -11 5225678 C G 5225678 5225678 - Haplotype 15496 RCV000016758 SCV000037028 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CLEVELAND;HEMOGLOBIN CLEVELAND 1177278;1244906;12709369;15108284;16370495;16540414;1787096;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0407 2016-07-20 -11 5225678 C G 5225678 5225678 - Haplotype 15591 RCV000016858 SCV000037128 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN D (AGRI);HEMOGLOBIN D (AGRI) 11570725;1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0502 2016-07-20 -11 5225678 C T 5225678 5225678 - Haplotype 15335 RCV000016577 SCV000036846 30331 HBB NM_000518.4:c.364G>A NP_000509.1:p.Glu122Lys NM_000518.4:c.364G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1999-04-01 OMIM OMIM Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN) 10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005 1999-04-01 -11 5225678 C T 5225678 5225678 - Haplotype 15596 RCV000016863 SCV000037133 30331 HBB NM_000518.4:c.364G>A NP_000509.1:p.Glu122Lys NM_000518.4:c.364G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN O (TIBESTI);HEMOGLOBIN O (TIBESTI) 1112610;11179419;11939508;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline OMIM:141900.0507 2016-07-20 -11 5225683 C T 5225683 5225683 - Haplotype 15165 RCV000016336 SCV000036604 38469 HBB NM_000518.4:c.359G>A NP_000509.1:p.Gly120Asp NM_000518.4:c.359G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN FANNIN-LUBBOCK 20942;7852084 germline OMIM:141900.0075 2017-02-27 -11 5225683 C T 5225683 5225683 - Haplotype 15262 RCV000016486 SCV000036754 38469 HBB NM_000518.4:c.359G>A NP_000509.1:p.Gly120Asp NM_000518.4:c.359G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MASUDA;HEMOGLOBIN MASUDA 2634673 germline OMIM:141900.0172 2016-07-20 -11 5225699 G T 5225699 5225699 - Haplotype 15262 RCV000016486 SCV000036754 30525 HBB NM_000518.4:c.343C>A NP_000509.1:p.Leu115Met NM_000518.4:c.343C>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MASUDA;HEMOGLOBIN MASUDA 2634673 germline OMIM:141900.0172 2016-07-20 -11 5225708 C G 5225708 5225708 - Haplotype 15165 RCV000016336 SCV000036604 30204 HBB NM_000518.4:c.334G>C NP_000509.1:p.Val112Leu NM_000518.4:c.334G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN FANNIN-LUBBOCK 20942;7852084 germline OMIM:141900.0075 2017-02-27 -11 5226597 C T 5226597 5226597 - Haplotype 15541 RCV000016807 SCV000037077 30280 HBB NM_000518.4:c.295G>A NP_000509.1:p.Val99Met NM_000518.4:c.295G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 -11 5226606 T C 5226606 5226606 - Haplotype 15098 RCV000016251 SCV000036519 30317 HBB NM_000518.4:c.286A>G NP_000509.1:p.Lys96Glu NM_000518.4:c.286A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 -11 5226612 A G 5226612 5226612 - Haplotype 15496 RCV000016758 SCV000037028 30336 HBB NM_000518.4:c.280T>C NP_000509.1:p.Cys94Arg NM_000518.4:c.280T>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CLEVELAND;HEMOGLOBIN CLEVELAND 1177278;1244906;12709369;15108284;16370495;16540414;1787096;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0407 2016-07-20 -11 5226614 T G 5226614 5226614 - Haplotype 15516 RCV000016780 SCV000037050 30326 HBB NM_000518.4:c.278A>C NP_000509.1:p.His93Pro NM_000518.4:c.278A>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN DUINO;HEMOGLOBIN DUINO 1511986 germline OMIM:141900.0427 2016-07-20 -11 5226621 C T 5226621 5226621 - Haplotype 15610 RCV000016877 SCV000037147 30130 HBB NM_000518.4:c.271G>A NP_000509.1:p.Glu91Lys NM_000518.4:c.271G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-05-01 OMIM OMIM HEMOGLOBIN S (CAMEROON);HEMOGLOBIN S (CAMEROON) 15182055 germline OMIM:141900.0521 2004-05-01 -11 5226633 C G 5226633 5226633 - Haplotype 15313 RCV000016553 SCV000036821 30650 HBB NM_000518.4:c.259G>C NP_000509.1:p.Ala87Pro NM_000518.4:c.259G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 -11 5226672 C T 5226672 5226672 - Haplotype 15127 RCV000016286 SCV000036554 30283 HBB NM_000518.4:c.220G>A NP_000509.1:p.Asp74Asn NM_000518.4:c.220G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN) 13943409;5069596;5490239;5928902 germline OMIM:141900.0039;OMIM:141900.0040 2017-02-27 -11 5226687 G A 5226687 5226687 - Haplotype 15612 RCV000016879 SCV000037149 30652 HBB NM_000518.4:c.205C>T NP_000509.1:p.Leu69Phe NM_000518.4:c.205C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN JAMAICA PLAIN;HEMOGLOBIN JAMAICA PLAIN 15470216;6166632 germline OMIM:141900.0523 2017-02-27 -11 5226695 T A 5226695 5226695 - Haplotype 15581 RCV000016848 SCV000037118 30250 HBB NM_000518.4:c.197A>T NP_000509.1:p.Lys66Met NM_000518.4:c.197A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 -11 5226716 G C 5226716 5226716 - Haplotype 15128 RCV000030905 SCV000036556 30437 HBB NM_000518.4:c.176C>G NP_000509.1:p.Pro59Arg NM_000518.4:c.176C>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (ZIGUINCHOR) 1225575;893143 germline OMIM:141900.0039;OMIM:141900.0040 2016-07-20 -11 5226723 C G 5226723 5226723 - Haplotype 15313 RCV000016553 SCV000036821 30227 HBB NM_000518.4:c.169G>C NP_000509.1:p.Gly57Arg NM_000518.4:c.169G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 -11 5226735 C T 5226735 5226735 - Haplotype 15497 RCV000016759 SCV000037029 30341 HBB NM_000518.4:c.157G>A NP_000509.1:p.Asp53Asn NM_000518.4:c.157G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 -11 5226738 G A 5226738 5226738 - Haplotype 15497 RCV000016759 SCV000037029 30536 HBB NM_000518.4:c.154C>T NP_000509.1:p.Pro52Ser NM_000518.4:c.154C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 -11 5226794 A T 5226794 5226794 - Haplotype 15541 RCV000016807 SCV000037077 30572 HBB NM_000518.4:c.98T>A NP_000509.1:p.Leu33Gln NM_000518.4:c.98T>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 -11 5226943 C T 5226943 5226943 - Haplotype 15366 RCV000016617 SCV000036886 30200 HBB NM_000518.4:c.79G>A NP_000509.1:p.Glu27Lys NM_000518.4:c.79G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN T (CAMBODIA) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0276 2016-07-20 -11 5226952 C T 5226952 5226952 - Haplotype 15334 RCV000016576 SCV000036845 38470 HBB NM_000518.4:c.70G>A NP_000509.1:p.Val24Ile NM_000518.4:c.70G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-06-01 OMIM OMIM HEMOGLOBIN S (ANTILLES);HEMOGLOBIN S (ANTILLES) 2189492;3467311;9166865 germline OMIM:141900.0244 1997-06-01 -11 5226988 C T 5226988 5226988 - Haplotype 15596 RCV000016863 SCV000037133 30228 HBB NM_000518.4:c.34G>A NP_000509.1:p.Val12Ile NM_000518.4:c.34G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN O (TIBESTI);HEMOGLOBIN O (TIBESTI) 1112610;11179419;11939508;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline OMIM:141900.0507 2016-07-20 -11 5226993 G T 5226993 5226993 - Haplotype 15591 RCV000016858 SCV000037128 30658 HBB NM_000518.4:c.29C>A NP_000509.1:p.Ser10Tyr NM_000518.4:c.29C>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN D (AGRI);HEMOGLOBIN D (AGRI) 11570725;1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0502 2016-07-20 -11 5227002 T A 5227002 5227002 - Haplotype 15127 RCV000016286 SCV000036554 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN) 13943409;5069596;5490239;5928902 germline OMIM:141900.0039;OMIM:141900.0040 2017-02-27 -11 5227002 T A 5227002 5227002 - Haplotype 15128 RCV000030905 SCV000036556 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (ZIGUINCHOR) 1225575;893143 germline OMIM:141900.0039;OMIM:141900.0040 2016-07-20 -11 5227002 T A 5227002 5227002 - Haplotype 15334 RCV000016576 SCV000036845 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-06-01 OMIM OMIM HEMOGLOBIN S (ANTILLES);HEMOGLOBIN S (ANTILLES) 2189492;3467311;9166865 germline OMIM:141900.0244 1997-06-01 -11 5227002 T A 5227002 5227002 - Haplotype 15335 RCV000016577 SCV000036846 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1999-04-01 OMIM OMIM Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN) 10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005 1999-04-01 -11 5227002 T A 5227002 5227002 - Haplotype 15336 RCV000016579 SCV000036848 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1988-10-01 OMIM OMIM HEMOGLOBIN S (PROVIDENCE);HEMOGLOBIN S (PROVIDENCE) 3191036 germline OMIM:141900.0246 1988-10-01 -11 5227002 T A 5227002 5227002 - Haplotype 15337 RCV000016580 SCV000036849 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-01-01 OMIM OMIM HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (TRAVIS) 1634360;19257 germline OMIM:141900.0247 1992-01-01 -11 5227002 T A 5227002 5227002 - Haplotype 15610 RCV000016877 SCV000037147 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-05-01 OMIM OMIM HEMOGLOBIN S (CAMEROON);HEMOGLOBIN S (CAMEROON) 15182055 germline OMIM:141900.0521 2004-05-01 -11 5227002 T A 5227002 5227002 - Haplotype 15612 RCV000016879 SCV000037149 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN JAMAICA PLAIN;HEMOGLOBIN JAMAICA PLAIN 15470216;6166632 germline OMIM:141900.0523 2017-02-27 -11 5227003 C T 5227003 5227003 - Haplotype 15098 RCV000016251 SCV000036519 30165 HBB NM_000518.4:c.19G>A NP_000509.1:p.Glu7Lys NM_000518.4:c.19G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 -11 5248393 G C 5248393 5248393 - Haplotype 15036 RCV000016180 SCV000036448 38468 HBG1 NM_000559.2:c.410C>G NP_000550.2:p.Ala137Gly NM_000559.2:c.410C>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-07-15 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (CHARLOTTE) 1714434 germline OMIM:142200.0032 2011-07-15 -11 5248394 C A 5248394 5248394 - Haplotype 15041 RCV000016185 SCV000036453 30080 HBG1 NM_000559.2:c.409G>T NP_000550.2:p.Ala137Ser NM_000559.2:c.409G>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-18 OMIM OMIM HEMOGLOBIN F (PORTO TORRES);HEMOGLOBIN F (PORTO TORRES) 15666429 germline OMIM:142200.0037 2016-08-18 -11 5249456 G A 5249456 5249456 - Haplotype 15036 RCV000016180 SCV000036448 30044 HBG1 NM_000559.2:c.227C>T NP_000550.2:p.Thr76Ile NM_000559.2:c.227C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-07-15 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (CHARLOTTE) 1714434 germline OMIM:142200.0032 2011-07-15 -11 5249456 G A 5249456 5249456 - Haplotype 15041 RCV000016185 SCV000036453 30044 HBG1 NM_000559.2:c.227C>T NP_000550.2:p.Thr76Ile NM_000559.2:c.227C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-18 OMIM OMIM HEMOGLOBIN F (PORTO TORRES);HEMOGLOBIN F (PORTO TORRES) 15666429 germline OMIM:142200.0037 2016-08-18 +11 2572089 G A 2572089 2572089 + Haplotype 444879 RCV000003296 SCV000023454 18157 KCNQ1 NM_000218.2:c.760G>A NP_000209.2:p.Val254Met NM_000218.2:c.760G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-03-01 OMIM OMIM Long QT syndrome 1;LONG QT SYNDROME 1 10973849;12820704;14678125;1475667;14756674;20301308;21810866;23788249;25356965;27854360;8528244;9386136 germline GeneReviews:NBK1129;Genetic Alliance:Long+QT+syndrome+1/4297;MedGen:C0035828;OMIM:192500;Office of Rare Diseases:3284;Orphanet:101016;Orphanet:768;SNOMED CT:20852007 2004-03-01 +11 2587690 G A 2587690 2587690 + Haplotype 444879 RCV000003296 SCV000023454 38428 KCNQ1 NM_181798.1:c.868G>A NP_000209.2:p.Val417Met NM_000218.2:c.1249G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-03-01 OMIM OMIM Long QT syndrome 1;LONG QT SYNDROME 1 10973849;12820704;14678125;1475667;14756674;20301308;21810866;23788249;25356965;27854360;8528244;9386136 germline GeneReviews:NBK1129;Genetic Alliance:Long+QT+syndrome+1/4297;MedGen:C0035828;OMIM:192500;Office of Rare Diseases:3284;Orphanet:101016;Orphanet:768;SNOMED CT:20852007 2004-03-01 +11 5225609 T A 5225609 5225609 - Haplotype 446749 RCV000016884 SCV000037154 38409 HBB NM_000518.4:c.433A>T NP_000509.1:p.Lys145Ter NM_000518.4:c.433A>T:nonsense other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 +11 5225614 G A 5225614 5225614 - Haplotype 446738 RCV000016580 SCV000036849 38472 HBB NM_000518.4:c.428C>T NP_000509.1:p.Ala143Val NM_000518.4:c.428C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-01-01 OMIM OMIM HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (TRAVIS) 1634360;19257 germline OMIM:141900.0247 1992-01-01 +11 5225618 G C 5225618 5225618 - Haplotype 446749 RCV000016884 SCV000037154 30656 HBB NM_000518.4:c.424C>G NP_000509.1:p.Leu142Val NM_000518.4:c.424C>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 +11 5225675 A G 5225675 5225675 - Haplotype 446744 RCV000016848 SCV000037118 30619 HBB NM_000518.4:c.367T>C NP_000509.1:p.Phe123Leu NM_000518.4:c.367T>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 +11 5225678 C G 5225678 5225678 - Haplotype 446739 RCV000016617 SCV000036886 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN T (CAMBODIA) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0276 2016-07-20 +11 5225678 C G 5225678 5225678 - Haplotype 446740 RCV000016758 SCV000037028 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CLEVELAND;HEMOGLOBIN CLEVELAND 1177278;1244906;12709369;15108284;16370495;16540414;1787096;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0407 2016-07-20 +11 5225678 C G 5225678 5225678 - Haplotype 446745 RCV000016858 SCV000037128 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN D (AGRI);HEMOGLOBIN D (AGRI) 11570725;1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0502 2016-07-20 +11 5225678 C T 5225678 5225678 - Haplotype 446736 RCV000016577 SCV000036846 30331 HBB NM_000518.4:c.364G>A NP_000509.1:p.Glu122Lys NM_000518.4:c.364G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1999-04-01 OMIM OMIM Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN) 10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005 1999-04-01 +11 5225678 C T 5225678 5225678 - Haplotype 446746 RCV000016863 SCV000037133 30331 HBB NM_000518.4:c.364G>A NP_000509.1:p.Glu122Lys NM_000518.4:c.364G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN O (TIBESTI);HEMOGLOBIN O (TIBESTI) 1112610;11179419;11939508;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline OMIM:141900.0507 2016-07-20 +11 5225683 C T 5225683 5225683 - Haplotype 446732 RCV000016336 SCV000036604 38469 HBB NM_000518.4:c.359G>A NP_000509.1:p.Gly120Asp NM_000518.4:c.359G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN FANNIN-LUBBOCK 20942;7852084 germline OMIM:141900.0075 2017-02-27 +11 5225683 C T 5225683 5225683 - Haplotype 446733 RCV000016486 SCV000036754 38469 HBB NM_000518.4:c.359G>A NP_000509.1:p.Gly120Asp NM_000518.4:c.359G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MASUDA;HEMOGLOBIN MASUDA 2634673 germline OMIM:141900.0172 2016-07-20 +11 5225699 G T 5225699 5225699 - Haplotype 446733 RCV000016486 SCV000036754 30525 HBB NM_000518.4:c.343C>A NP_000509.1:p.Leu115Met NM_000518.4:c.343C>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MASUDA;HEMOGLOBIN MASUDA 2634673 germline OMIM:141900.0172 2016-07-20 +11 5225708 C G 5225708 5225708 - Haplotype 446732 RCV000016336 SCV000036604 30204 HBB NM_000518.4:c.334G>C NP_000509.1:p.Val112Leu NM_000518.4:c.334G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN FANNIN-LUBBOCK 20942;7852084 germline OMIM:141900.0075 2017-02-27 +11 5226597 C T 5226597 5226597 - Haplotype 446743 RCV000016807 SCV000037077 30280 HBB NM_000518.4:c.295G>A NP_000509.1:p.Val99Met NM_000518.4:c.295G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 +11 5226606 T C 5226606 5226606 - Haplotype 446729 RCV000016251 SCV000036519 30317 HBB NM_000518.4:c.286A>G NP_000509.1:p.Lys96Glu NM_000518.4:c.286A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 +11 5226612 A G 5226612 5226612 - Haplotype 446740 RCV000016758 SCV000037028 30336 HBB NM_000518.4:c.280T>C NP_000509.1:p.Cys94Arg NM_000518.4:c.280T>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CLEVELAND;HEMOGLOBIN CLEVELAND 1177278;1244906;12709369;15108284;16370495;16540414;1787096;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0407 2016-07-20 +11 5226614 T G 5226614 5226614 - Haplotype 446742 RCV000016780 SCV000037050 30326 HBB NM_000518.4:c.278A>C NP_000509.1:p.His93Pro NM_000518.4:c.278A>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN DUINO;HEMOGLOBIN DUINO 1511986 germline OMIM:141900.0427 2016-07-20 +11 5226621 C T 5226621 5226621 - Haplotype 446747 RCV000016877 SCV000037147 30130 HBB NM_000518.4:c.271G>A NP_000509.1:p.Glu91Lys NM_000518.4:c.271G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-05-01 OMIM OMIM HEMOGLOBIN S (CAMEROON);HEMOGLOBIN S (CAMEROON) 15182055 germline OMIM:141900.0521 2004-05-01 +11 5226633 C G 5226633 5226633 - Haplotype 446734 RCV000016553 SCV000036821 30650 HBB NM_000518.4:c.259G>C NP_000509.1:p.Ala87Pro NM_000518.4:c.259G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 +11 5226672 C T 5226672 5226672 - Haplotype 446730 RCV000016286 SCV000036554 30283 HBB NM_000518.4:c.220G>A NP_000509.1:p.Asp74Asn NM_000518.4:c.220G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN) 13943409;5069596;5490239;5928902 germline OMIM:141900.0039;OMIM:141900.0040 2017-02-27 +11 5226687 G A 5226687 5226687 - Haplotype 446748 RCV000016879 SCV000037149 30652 HBB NM_000518.4:c.205C>T NP_000509.1:p.Leu69Phe NM_000518.4:c.205C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN JAMAICA PLAIN;HEMOGLOBIN JAMAICA PLAIN 15470216;6166632 germline OMIM:141900.0523 2017-02-27 +11 5226695 T A 5226695 5226695 - Haplotype 446744 RCV000016848 SCV000037118 30250 HBB NM_000518.4:c.197A>T NP_000509.1:p.Lys66Met NM_000518.4:c.197A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 +11 5226716 G C 5226716 5226716 - Haplotype 446731 RCV000030905 SCV000036556 30437 HBB NM_000518.4:c.176C>G NP_000509.1:p.Pro59Arg NM_000518.4:c.176C>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (ZIGUINCHOR) 1225575;893143 germline OMIM:141900.0039;OMIM:141900.0040 2016-07-20 +11 5226723 C G 5226723 5226723 - Haplotype 446734 RCV000016553 SCV000036821 30227 HBB NM_000518.4:c.169G>C NP_000509.1:p.Gly57Arg NM_000518.4:c.169G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 +11 5226735 C T 5226735 5226735 - Haplotype 446741 RCV000016759 SCV000037029 30341 HBB NM_000518.4:c.157G>A NP_000509.1:p.Asp53Asn NM_000518.4:c.157G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 +11 5226738 G A 5226738 5226738 - Haplotype 446741 RCV000016759 SCV000037029 30536 HBB NM_000518.4:c.154C>T NP_000509.1:p.Pro52Ser NM_000518.4:c.154C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 +11 5226794 A T 5226794 5226794 - Haplotype 446743 RCV000016807 SCV000037077 30572 HBB NM_000518.4:c.98T>A NP_000509.1:p.Leu33Gln NM_000518.4:c.98T>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 +11 5226943 C T 5226943 5226943 - Haplotype 446739 RCV000016617 SCV000036886 30200 HBB NM_000518.4:c.79G>A NP_000509.1:p.Glu27Lys NM_000518.4:c.79G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN T (CAMBODIA) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0276 2016-07-20 +11 5226952 C T 5226952 5226952 - Haplotype 446735 RCV000016576 SCV000036845 38470 HBB NM_000518.4:c.70G>A NP_000509.1:p.Val24Ile NM_000518.4:c.70G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-06-01 OMIM OMIM HEMOGLOBIN S (ANTILLES);HEMOGLOBIN S (ANTILLES) 2189492;3467311;9166865 germline OMIM:141900.0244 1997-06-01 +11 5226988 C T 5226988 5226988 - Haplotype 446746 RCV000016863 SCV000037133 30228 HBB NM_000518.4:c.34G>A NP_000509.1:p.Val12Ile NM_000518.4:c.34G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN O (TIBESTI);HEMOGLOBIN O (TIBESTI) 1112610;11179419;11939508;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline OMIM:141900.0507 2016-07-20 +11 5226993 G T 5226993 5226993 - Haplotype 446745 RCV000016858 SCV000037128 30658 HBB NM_000518.4:c.29C>A NP_000509.1:p.Ser10Tyr NM_000518.4:c.29C>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN D (AGRI);HEMOGLOBIN D (AGRI) 11570725;1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0502 2016-07-20 +11 5227002 T A 5227002 5227002 - Haplotype 446730 RCV000016286 SCV000036554 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN) 13943409;5069596;5490239;5928902 germline OMIM:141900.0039;OMIM:141900.0040 2017-02-27 +11 5227002 T A 5227002 5227002 - Haplotype 446731 RCV000030905 SCV000036556 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (ZIGUINCHOR) 1225575;893143 germline OMIM:141900.0039;OMIM:141900.0040 2016-07-20 +11 5227002 T A 5227002 5227002 - Haplotype 446735 RCV000016576 SCV000036845 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-06-01 OMIM OMIM HEMOGLOBIN S (ANTILLES);HEMOGLOBIN S (ANTILLES) 2189492;3467311;9166865 germline OMIM:141900.0244 1997-06-01 +11 5227002 T A 5227002 5227002 - Haplotype 446736 RCV000016577 SCV000036846 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1999-04-01 OMIM OMIM Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN) 10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005 1999-04-01 +11 5227002 T A 5227002 5227002 - Haplotype 446737 RCV000016579 SCV000036848 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1988-10-01 OMIM OMIM HEMOGLOBIN S (PROVIDENCE);HEMOGLOBIN S (PROVIDENCE) 3191036 germline OMIM:141900.0246 1988-10-01 +11 5227002 T A 5227002 5227002 - Haplotype 446738 RCV000016580 SCV000036849 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-01-01 OMIM OMIM HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (TRAVIS) 1634360;19257 germline OMIM:141900.0247 1992-01-01 +11 5227002 T A 5227002 5227002 - Haplotype 446747 RCV000016877 SCV000037147 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-05-01 OMIM OMIM HEMOGLOBIN S (CAMEROON);HEMOGLOBIN S (CAMEROON) 15182055 germline OMIM:141900.0521 2004-05-01 +11 5227002 T A 5227002 5227002 - Haplotype 446748 RCV000016879 SCV000037149 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-27 OMIM OMIM HEMOGLOBIN JAMAICA PLAIN;HEMOGLOBIN JAMAICA PLAIN 15470216;6166632 germline OMIM:141900.0523 2017-02-27 +11 5227003 C T 5227003 5227003 - Haplotype 446729 RCV000016251 SCV000036519 30165 HBB NM_000518.4:c.19G>A NP_000509.1:p.Glu7Lys NM_000518.4:c.19G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-20 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 +11 5248393 G C 5248393 5248393 - Haplotype 446751 RCV000016180 SCV000036448 38468 HBG1 NM_000559.2:c.410C>G NP_000550.2:p.Ala137Gly NM_000559.2:c.410C>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-07-15 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (CHARLOTTE) 1714434 germline OMIM:142200.0032 2011-07-15 +11 5248394 C A 5248394 5248394 - Haplotype 446752 RCV000016185 SCV000036453 30080 HBG1 NM_000559.2:c.409G>T NP_000550.2:p.Ala137Ser NM_000559.2:c.409G>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-18 OMIM OMIM HEMOGLOBIN F (PORTO TORRES);HEMOGLOBIN F (PORTO TORRES) 15666429 germline OMIM:142200.0037 2016-08-18 +11 5249456 G A 5249456 5249456 - Haplotype 446751 RCV000016180 SCV000036448 30044 HBG1 NM_000559.2:c.227C>T NP_000550.2:p.Thr76Ile NM_000559.2:c.227C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-07-15 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (CHARLOTTE) 1714434 germline OMIM:142200.0032 2011-07-15 +11 5249456 G A 5249456 5249456 - Haplotype 446752 RCV000016185 SCV000036453 30044 HBG1 NM_000559.2:c.227C>T NP_000550.2:p.Thr76Ile NM_000559.2:c.227C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-18 OMIM OMIM HEMOGLOBIN F (PORTO TORRES);HEMOGLOBIN F (PORTO TORRES) 15666429 germline OMIM:142200.0037 2016-08-18 11 36574823 C T 36574823 36574823 + Haplotype 13157 RCV000014043 SCV000034290 28196 RAG1 NM_000448.2:c.1519C>T NP_000439.1:p.Arg507Trp NM_000448.2:c.1519C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-05-08 OMIM OMIM Combined cellular and humoral immune defects with granulomas;COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS 18463379 germline Genetic Alliance:Combined+cellular+and+humoral+immune+defects+with+granulomas/8008;MedGen:C2673536;OMIM:233650 2008-05-08 11 36575514 G A 36575514 36575514 + Haplotype 13157 RCV000014043 SCV000034290 28188 RAG1 NM_000448.2:c.2210G>A NP_000439.1:p.Arg737His NM_000448.2:c.2210G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-05-08 OMIM OMIM Combined cellular and humoral immune defects with granulomas;COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS 18463379 germline Genetic Alliance:Combined+cellular+and+humoral+immune+defects+with+granulomas/8008;MedGen:C2673536;OMIM:233650 2008-05-08 11 44107972 T G 44107972 44107972 + Haplotype 218894 RCV000203245 SCV000258309 137950 EXT2 NM_000401.3:c.359T>G NP_997005.1:p.Met87Arg NM_207122.1:c.260T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-10-01 OMIM OMIM Seizures, scoliosis, and macrocephaly syndrome;SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME (1 family) 26246518 germline MedGen:C4225248;OMIM:616682 2015-10-01 @@ -326,14 +353,15 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 11 72225013 C CG 72225019 72225019 + Haplotype 235823 RCV000224773 SCV000281677 237478 INPPL1 NM_001567.3:c.35dupG NP_001558.3:p.Ala13Argfs NM_001567.3:c.35dupG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-01-08 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 unknown Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 11 72229558 G C 72229558 72229558 + Haplotype 235822 RCV000224420 SCV000281676 237479 INPPL1 NM_001567.3:c.753G>C NP_001558.3:p.Gln251His NM_001567.3:c.753G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-01-08 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 11 72229676 CAG C 72229677 72229678 + Haplotype 235825 RCV000224914 SCV000281680 237480 INPPL1 NM_001567.3:c.768_769delAG NP_001558.3:p.Glu258Alafs NM_001567.3:c.768_769delAG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-01-08 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 +11 72232260 G A 72232260 72232260 Distinct chromosomes 488055 RCV000577875 SCV000583573 481067 SH3PXD2B NM_001567.3:c.1636G>A NP_001558.3:p.Val546Ile NM_001567.3:c.1636G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Frank Ter Haar syndrome;Opsismodysplasia 1;20137777;29276006 unknown Genetic Alliance:Frank+Ter+Haar+Syndrome/2915;Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;MedGen:C1855305;OMIM:249420;OMIM:258480;Office of Rare Diseases:4098;Office of Rare Diseases:5138;Orphanet:137834;Orphanet:2746;SNOMED CT:254068007 2017-06-01 11 72232303 GTCACC G 72232311 72232315 + Haplotype 235823 RCV000224773 SCV000281677 237481 INPPL1 NM_001567.3:c.1687_1691delACCTC NP_001558.3:p.Thr563Glyfs NM_001567.3:c.1687_1691delACCTC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-01-08 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 unknown Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 11 72234616 G A 72234616 72234616 + Haplotype 235825 RCV000224914 SCV000281680 48075 INPPL1 NM_001567.3:c.2415+1G>A NM_001567.3:c.2415+1G>A:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-01-08 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 11 121166652 C T 121166652 121166652 + Haplotype 7013 RCV000007428 SCV000027628 22052 TECTA NM_005422.2:c.5458C>T NP_005413.2:p.Leu1820Phe NM_005422.2:c.5458C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-05-01 OMIM OMIM Deafness, autosomal dominant 12;DEAFNESS, AUTOSOMAL DOMINANT 12 20301607;9590290 germline Genetic Alliance:Deafness%2C+autosomal+dominant+12/8133;MedGen:C1832187;OMIM:601543;Orphanet:90635 1998-05-01 11 121166665 G A 121166665 121166665 + Haplotype 7013 RCV000007428 SCV000027628 38440 TECTA NM_005422.2:c.5471G>A NP_005413.2:p.Gly1824Asp NM_005422.2:c.5471G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-05-01 OMIM OMIM Deafness, autosomal dominant 12;DEAFNESS, AUTOSOMAL DOMINANT 12 20301607;9590290 germline Genetic Alliance:Deafness%2C+autosomal+dominant+12/8133;MedGen:C1832187;OMIM:601543;Orphanet:90635 1998-05-01 12 57500406 G A 57500406 57500406 + Haplotype 189364 RCV000169765 SCV000196708 187252 MARS NM_004990.3:c.1177G>A NP_004981.2:p.Ala393Thr NM_004990.3:c.1177G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-12-02 Institute of Human Genetics, Klinikum rechts der Isar Institute of Human Genetics, Klinikum rechts der Isar Pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis germline MedGen:C0034050;SNOMED CT:10501004 2014-12-02 -12 57500406 G A 57500406 57500406 + Haplotype 189364 RCV000173000 SCV000224019 187252 MARS NM_004990.3:c.1177G>A NP_004981.2:p.Ala393Thr NM_004990.3:c.1177G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-05-07 OMIM OMIM Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C3809651;OMIM:615486 2015-05-07 +12 57500406 G A 57500406 57500406 + Haplotype 189364 RCV000173000 SCV000224019 187252 MARS NM_004990.3:c.1177G>A NP_004981.2:p.Ala393Thr NM_004990.3:c.1177G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-05-07 OMIM OMIM Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C4225400;OMIM:615486 2015-05-07 12 57512300 C T 57512300 57512300 + Haplotype 189364 RCV000169765 SCV000196708 187253 MARS NM_004990.3:c.1700C>T NP_004981.2:p.Ser567Leu NM_004990.3:c.1700C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-12-02 Institute of Human Genetics, Klinikum rechts der Isar Institute of Human Genetics, Klinikum rechts der Isar Pulmonary alveolar proteinosis;Pulmonary alveolar proteinosis germline MedGen:C0034050;SNOMED CT:10501004 2014-12-02 -12 57512300 C T 57512300 57512300 + Haplotype 189364 RCV000173000 SCV000224019 187253 MARS NM_004990.3:c.1700C>T NP_004981.2:p.Ser567Leu NM_004990.3:c.1700C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-05-07 OMIM OMIM Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C3809651;OMIM:615486 2015-05-07 +12 57512300 C T 57512300 57512300 + Haplotype 189364 RCV000173000 SCV000224019 187253 MARS NM_004990.3:c.1700C>T NP_004981.2:p.Ser567Leu NM_004990.3:c.1700C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-05-07 OMIM OMIM Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C4225400;OMIM:615486 2015-05-07 12 80358880 A G 80358880 80358880 + Haplotype 229122 RCV000217831 SCV000272283 230419 OTOGL NM_173591.3:c.6220A>G NP_775862.3:p.Ile2074Val NM_173591.3:c.6220A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-01 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-01 12 80358881 T C 80358881 80358881 + Haplotype 229122 RCV000217831 SCV000272283 230420 OTOGL NM_173591.3:c.6221T>C NP_775862.3:p.Ile2074Thr NM_173591.3:c.6221T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-01 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-01 12 101757254 G A 101757254 101757254 - Haplotype 39094 RCV000032361 SCV000056008 47698 GNPTAB NM_024312.4:c.3392C>T NP_077288.2:p.Ser1131Phe NM_024312.4:c.3392C>T:missense variant Pathogenic pathologic 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-05-10 GeneReviews GeneReviews I cell disease;Mucolipidosis II 20301728 not provided GeneReviews:NBK1828;Genetic Alliance:Mucolipidosis+II/3706;Genetics Home Reference:mucolipidosis-ii-alpha-beta;MedGen:C2673377;OMIM:252500;Office of Rare Diseases:6749;Orphanet:576 2012-05-10 @@ -346,18 +374,26 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 12 102852922 C T 102852922 102852922 - Haplotype 402236 RCV000454199 SCV000538053 98655 PAH NM_000277.2:c.735G>A NP_000268.1:p.Val245= NM_000277.2:c.735G>A:synonymous variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-08-13 Knight Diagnostic Laboratories,Oregon Health and Sciences University Knight Diagnostic Laboratories,Oregon Health and Sciences University Phenylketonuria 20301677;21915151;24385074;24667081;25741868 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2015-08-13 12 102852934 GC G 102852935 102852935 - Haplotype 402236 RCV000454199 SCV000538053 108542 PAH NM_000277.2:c.722delG NP_000268.1:p.Arg241Profs NM_000277.2:c.722delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-08-13 Knight Diagnostic Laboratories,Oregon Health and Sciences University Knight Diagnostic Laboratories,Oregon Health and Sciences University Phenylketonuria 20301677;21915151;24385074;24667081;25741868 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2015-08-13 12 102878057 C A 102878057 102878057 - Haplotype 217885 RCV000201954 SCV000256881 214540 PAH NM_000277.2:c.353-507G>T NM_000277.2:c.353-507G>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-08-07 Mendelics Analise Genomica Mendelics Analise Genomica Phenylketonuria 20301677;21915151;24385074;24667081;2574153;9429153 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2014-08-07 -13 20189174 G T 20189174 20189174 - Haplotype 267367 RCV000258130 SCV000328260;SCV000599732 186856 GJB2 NM_004004.5:c.408C>A NP_003995.2:p.Tyr136Ter NM_004004.5:c.408C>A:nonsense Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2017-05-09 OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A;Deafness, autosomal recessive 1A 1;12560944;15633193;20301449;20301607;20497192;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2010-11-01;2017-05-09 +12 109783751 A T 109783751 109783751 - Haplotype 378057 RCV000435546 SCV000513422 472257 TRPV4 NM_021625.4:c.2486T>A NP_067638.3:p.Val829Glu NM_021625.4:c.2486T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-03-03 OMIM OMIM Avascular necrosis of femoral head, primary, 2;AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 (1 family) 27330106 germline MedGen:CN240839;OMIM:617383 2017-03-03 +12 109783752 CGCGG C 109783753 109783756 - Haplotype 378057 RCV000435546 SCV000513422 380146 TRPV4 NM_021625.4:c.2481_2484delCCGC NP_067638.3:p.Arg828Trpfs NM_021625.4:c.2481_2484delCCGC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-03-03 OMIM OMIM Avascular necrosis of femoral head, primary, 2;AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 (1 family) 27330106 germline MedGen:CN240839;OMIM:617383 2017-03-03 +13 20189174 G T 20189174 20189174 - Haplotype 267367 RCV000258130 SCV000599732 186856 GJB2 NM_004004.5:c.408C>A NP_003995.2:p.Tyr136Ter NM_004004.5:c.408C>A:nonsense Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-09 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1A 1;20301449;20301607;20497192 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2017-05-09 +13 20189174 G T 20189174 20189174 - Haplotype 446728 RCV000516165 SCV000328260 186856 GJB2 NM_004004.5:c.408C>A NP_003995.2:p.Tyr136Ter NM_004004.5:c.408C>A:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-11-01 OMIM OMIM Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A 1;12560944;15633193;20301449;20301607;20497192;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2010-11-01 13 20189241 T C 20189241 20189241 - Haplotype 177819 RCV000154452 SCV000204121 53906 GJB2 NM_004004.5:c.341A>G NP_003995.2:p.Glu114Gly NM_004004.5:c.341A>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-07-28 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 10607953;10983956;12746422;15070423;17041943;17666888;20083784;20201936;20668687;21298213;23826813;24033266;9529365 germline MedGen:CN169374 2015-07-28 -13 20189448 C T 20189448 20189448 - Haplotype 267367 RCV000258130 SCV000328260;SCV000599732 32072 GJB2 NM_004004.5:c.134G>A NP_003995.2:p.Gly45Glu NM_004004.5:c.134G>A:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2017-05-09 OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A;Deafness, autosomal recessive 1A 1;12560944;15633193;20301449;20301607;20497192;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2010-11-01;2017-05-09 +13 20189448 C T 20189448 20189448 - Haplotype 267367 RCV000258130 SCV000599732 32072 GJB2 NM_004004.5:c.134G>A NP_003995.2:p.Gly45Glu NM_004004.5:c.134G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-09 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Deafness, autosomal recessive 1A;Deafness, autosomal recessive 1A 1;20301449;20301607;20497192 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2017-05-09 +13 20189448 C T 20189448 20189448 - Haplotype 446728 RCV000516165 SCV000328260 32072 GJB2 NM_004004.5:c.134G>A NP_003995.2:p.Gly45Glu NM_004004.5:c.134G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-11-01 OMIM OMIM Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A 1;12560944;15633193;20301449;20301607;20497192;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2010-11-01 13 20189503 C T 20189503 20189503 - Haplotype 177819 RCV000154452 SCV000204121 44943 GJB2 NM_004004.5:c.79G>A NP_003995.2:p.Val27Ile NM_004004.5:c.79G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-07-28 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 10607953;10983956;12746422;15070423;17041943;17666888;20083784;20201936;20668687;21298213;23826813;24033266;9529365 germline MedGen:CN169374 2015-07-28 +13 23354972 G A 23354972 23354972 - Haplotype 424657 RCV000515975 SCV000574461 327819 SACS NM_014363.5:c.1640C>T NP_055178.3:p.Pro547Leu NM_014363.5:c.1640C>T:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-07 Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Hereditary spastic paraplegia 20301682;28832565 loss of function inherited GeneReviews:NBK1509;Genetic Alliance:Hereditary+spastic+paraplegia/3383;Genetic Testing Registry (GTR):GTR000500041;Genetic Testing Registry (GTR):GTR000500218;Genetic Testing Registry (GTR):GTR000500428;Genetic Testing Registry (GTR):GTR000508756;Genetic Testing Registry (GTR):GTR000525862;Genetic Testing Registry (GTR):GTR000525863;Genetic Testing Registry (GTR):GTR000528277;Genetic Testing Registry (GTR):GTR000529007;MedGen:C0037773;OMIM:PS303350;Office of Rare Diseases:6637;Orphanet:ORPHA685;SNOMED CT:39912006 2017-03-07 +13 23354978 C A 23354978 23354978 - Haplotype 424657 RCV000515975 SCV000574461 411584 SACS NM_014363.5:c.1634G>T NP_055178.3:p.Trp545Leu NM_014363.5:c.1634G>T:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-07 Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Hereditary spastic paraplegia 20301682;28832565 loss of function inherited GeneReviews:NBK1509;Genetic Alliance:Hereditary+spastic+paraplegia/3383;Genetic Testing Registry (GTR):GTR000500041;Genetic Testing Registry (GTR):GTR000500218;Genetic Testing Registry (GTR):GTR000500428;Genetic Testing Registry (GTR):GTR000508756;Genetic Testing Registry (GTR):GTR000525862;Genetic Testing Registry (GTR):GTR000525863;Genetic Testing Registry (GTR):GTR000528277;Genetic Testing Registry (GTR):GTR000529007;MedGen:C0037773;OMIM:PS303350;Office of Rare Diseases:6637;Orphanet:ORPHA685;SNOMED CT:39912006 2017-03-07 13 51941111 C T 51941111 51941111 - Haplotype 3863 RCV000004067 SCV000024233 38430 ATP7B NM_000053.3:c.3526G>A NP_000044.2:p.Gly1176Arg NM_000053.3:c.3526G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-05-01 OMIM OMIM Wilson disease;WILSON DISEASE 15845031;18506894;20301685;20482602;27854360 loss of function germline GeneReviews:NBK1512;Genetic Alliance:Wilson+disease/7506;Genetic Testing Registry (GTR):GTR000260623;Genetic Testing Registry (GTR):GTR000501125;Genetic Testing Registry (GTR):GTR000503091;Genetic Testing Registry (GTR):GTR000507952;Genetic Testing Registry (GTR):GTR000508735;Genetic Testing Registry (GTR):GTR000509712;Genetic Testing Registry (GTR):GTR000515523;Genetic Testing Registry (GTR):GTR000520457;Genetic Testing Registry (GTR):GTR000521900;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528632;Genetic Testing Registry (GTR):GTR000528928;Genetic Testing Registry (GTR):GTR000530035;Genetic Testing Registry (GTR):GTR000530097;Genetic Testing Registry (GTR):GTR000552345;Genetic Testing Registry (GTR):GTR000553937;Genetics Home Reference:wilson-disease;MedGen:C0019202;OMIM:277900;Office of Rare Diseases:7893;Orphanet:905;SNOMED CT:88518009 2005-05-01 13 51941194 A G 51941194 51941194 - Haplotype 3863 RCV000004067 SCV000024233 18902 ATP7B NM_000053.3:c.3443T>C NP_000044.2:p.Ile1148Thr NM_000053.3:c.3443T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-05-01 OMIM OMIM Wilson disease;WILSON DISEASE 15845031;18506894;20301685;20482602;27854360 loss of function germline GeneReviews:NBK1512;Genetic Alliance:Wilson+disease/7506;Genetic Testing Registry (GTR):GTR000260623;Genetic Testing Registry (GTR):GTR000501125;Genetic Testing Registry (GTR):GTR000503091;Genetic Testing Registry (GTR):GTR000507952;Genetic Testing Registry (GTR):GTR000508735;Genetic Testing Registry (GTR):GTR000509712;Genetic Testing Registry (GTR):GTR000515523;Genetic Testing Registry (GTR):GTR000520457;Genetic Testing Registry (GTR):GTR000521900;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528632;Genetic Testing Registry (GTR):GTR000528928;Genetic Testing Registry (GTR):GTR000530035;Genetic Testing Registry (GTR):GTR000530097;Genetic Testing Registry (GTR):GTR000552345;Genetic Testing Registry (GTR):GTR000553937;Genetics Home Reference:wilson-disease;MedGen:C0019202;OMIM:277900;Office of Rare Diseases:7893;Orphanet:905;SNOMED CT:88518009 2005-05-01 13 103049423 G A 103049423 103049423 - Haplotype 8241 RCV000008724 SCV000028933 38442 SLC10A2 NM_000452.2:c.785C>T NP_000443.1:p.Thr262Met NM_000452.2:c.785C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-04-15 OMIM OMIM Bile acid malabsorption, primary;BILE ACID MALABSORPTION, PRIMARY 9109432 germline Genetic Alliance:Bile+acid+malabsorption%2C+primary/7818;MedGen:C2750087;OMIM:613291 1997-04-15 13 103051290 A G 103051290 103051290 - Haplotype 8241 RCV000008724 SCV000028933 23280 SLC10A2 NM_000452.2:c.728T>C NP_000443.1:p.Leu243Pro NM_000452.2:c.728T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-04-15 OMIM OMIM Bile acid malabsorption, primary;BILE ACID MALABSORPTION, PRIMARY 9109432 germline Genetic Alliance:Bile+acid+malabsorption%2C+primary/7818;MedGen:C2750087;OMIM:613291 1997-04-15 -14 28767842 C G 28767842 28767842 + Phase unknown 189607 RCV000170068 SCV000222377 169055 FOXG1 NM_005249.4:c.563C>G NP_005240.3:p.Ala188Gly NM_005249.4:c.563C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-02-15 RettBASE RettBASE not provided;Not provided de novo MedGen:CN221809 2011-02-15 -14 28767923 TC CT 28767923 28767924 + Phase unknown 189607 RCV000170068 SCV000222377 187407 FOXG1 NM_005249.4:c.644_645delTCinsCT NP_005240.3:p.Phe215Ser NM_005249.4:c.644_645delTCinsCT:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-02-15 RettBASE RettBASE not provided;Not provided de novo MedGen:CN221809 2011-02-15 -14 31562125 G A 31562125 31562125 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 15046 NUBPL NM_025152.2:c.166G>A NP_079428.2:p.Gly56Arg NM_025152.2:c.166G>A:missense variant;NR_120408.1:n.221G>A:non-coding transcript variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2014-04-09 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-05-02;2014-04-09 -14 31850092 T C 31850092 31850092 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 59458 NUBPL NM_025152.2:c.815-27T>C NM_025152.2:c.815-27T>C:intron variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2014-04-09 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-05-02;2014-04-09 +14 23425798 G A 23425798 23425798 - Haplotype 487487 RCV000015167 SCV000035424 29150 MYH7 NM_000257.3:c.2183C>T NP_000248.2:p.Ala728Val NM_000257.3:c.2183C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2001-06-01 OMIM OMIM Familial hypertrophic cardiomyopathy 1;CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 11424919;20301559;20301725;21267010;23788249;25173338;25356965;27854360 germline GeneReviews:NBK1768;Genetic Alliance:Familial+hypertrophic+cardiomyopathy+1/8382;MedGen:C3495498;OMIM:192600 2001-06-01 +14 23427657 C T 23427657 23427657 - Haplotype 487487 RCV000015167 SCV000035424 29130 MYH7 NM_000257.3:c.1816G>A NP_000248.2:p.Val606Met NM_000257.3:c.1816G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2001-06-01 OMIM OMIM Familial hypertrophic cardiomyopathy 1;CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 11424919;20301559;20301725;21267010;23788249;25173338;25356965;27854360 germline GeneReviews:NBK1768;Genetic Alliance:Familial+hypertrophic+cardiomyopathy+1/8382;MedGen:C3495498;OMIM:192600 2001-06-01 +14 28767842 C G 28767842 28767842 + Phase unknown 189607 RCV000170068 SCV000222377 169055 FOXG1 NM_005249.4:c.563C>G NP_005240.3:p.Ala188Gly NM_005249.4:c.563C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-02-15 RettBASE RettBASE not provided;Not provided de novo MedGen:CN517202 2011-02-15 +14 28767923 TC CT 28767923 28767924 + Phase unknown 189607 RCV000170068 SCV000222377 187407 FOXG1 NM_005249.4:c.644_645delTCinsCT NP_005240.3:p.Phe215Ser NM_005249.4:c.644_645delTCinsCT:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-02-15 RettBASE RettBASE not provided;Not provided de novo MedGen:CN517202 2011-02-15 +14 31562125 G A 31562125 31562125 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 15046 NUBPL NM_025152.2:c.166G>A NP_079428.2:p.Gly56Arg NM_025152.2:c.166G>A:missense variant;NR_120408.1:n.221G>A:non-coding transcript variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2014-04-09 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-04-23;2014-04-09 +14 31850092 T C 31850092 31850092 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 59458 NUBPL NM_025152.2:c.815-27T>C NM_025152.2:c.815-27T>C:intron variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2014-04-09 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-04-23;2014-04-09 14 50911725 AGTAC A 50911726 50911729 - Haplotype 38368 RCV000020505 SCV000040956 46929 PYGL NM_002863.4:c.1969+1_1969+4delGTAC NM_002863.4:c.1969+1_1969+4delGTAC:intron variant Pathogenic pathologic 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-05-17 GeneReviews GeneReviews Glycogen storage disease, type VI;Glycogen Storage Disease Type VI 17705025;20301760 not provided GeneReviews:NBK5941;Genetic Alliance:Glycogen+Storage+Disease+Type+6/3126;MedGen:C0017925;OMIM:232700;Office of Rare Diseases:6529;Orphanet:369;SNOMED CT:237971004;SNOMED CT:29291001 2011-05-17 14 50911730 CTTTTT AAAAAG 50911730 50911735 - Haplotype 38368 RCV000020505 SCV000040956 46930 PYGL NM_002863.4:c.1964_1969invAAAAAG NP_002854.3:p.Glu655_Lys656del Pathogenic pathologic 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2011-05-17 GeneReviews GeneReviews Glycogen storage disease, type VI;Glycogen Storage Disease Type VI 17705025;20301760 not provided GeneReviews:NBK5941;Genetic Alliance:Glycogen+Storage+Disease+Type+6/3126;MedGen:C0017925;OMIM:232700;Office of Rare Diseases:6529;Orphanet:369;SNOMED CT:237971004;SNOMED CT:29291001 2011-05-17 14 75103841 C A 75103841 75103841 - Haplotype 242987 RCV000234965 SCV000292296 248590 NEK9 NM_033116.5:c.1731+1G>T NM_033116.5:c.1731+1G>T:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-11 OMIM OMIM Nevus comedonicus;NEVUS COMEDONICUS, SOMATIC 27153399 somatic MedGen:C0265987;OMIM:617025 2016-07-11 @@ -370,14 +406,16 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 14 94383008 GAGA G 94383009 94383011 - Haplotype 17972 RCV000019572 SCV000039869 321860 SERPINA1 NM_001127701.1:c.227_229delTCT NP_001121173.1:p.Phe76del NM_001127701.1:c.227_229delTCT:inframe_variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-15 OMIM OMIM PI M(NICHINAN);PI M(NICHINAN) 2309708;6162902 germline OMIM:107400.0017 2016-07-15 14 94383048 G T 94383048 94383048 - Haplotype 440501 RCV000508836 SCV000605936 434128 SERPINA1 NM_001127701.1:c.190C>A NP_001121173.1:p.Gln64Lys NM_001127701.1:c.190C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-11-13 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency;Alpha-1 Antitrypsin Deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2015-11-13 14 94383051 G A 94383051 94383051 - Haplotype 219354 RCV000205893 SCV000259189 33013 SERPINA1 NM_001127701.1:c.187C>T NP_001121173.1:p.Arg63Cys NM_001127701.1:c.187C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-07-23 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2015-07-23 -15 40471616 C G 40471616 40471616 + Haplotype 2338 RCV000002428 SCV000022586 17377 CHST14 NM_130468.3:c.403C>G NP_569735.1:p.Arg135Gly NM_130468.3:c.403C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-12-01 OMIM OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007;20004762 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 2009-12-01 -15 40471623 T A 40471623 40471623 + Haplotype 2338 RCV000002428 SCV000022586 38426 CHST14 NM_130468.3:c.410T>A NP_569735.1:p.Leu137Gln NM_130468.3:c.410T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-12-01 OMIM OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007;20004762 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 2009-12-01 +15 40471616 C G 40471616 40471616 + Haplotype 446172 RCV000002428 SCV000022586 439519 CHST14 NM_130468.3:c.403C>G NP_569735.1:p.Arg135Gly NM_130468.3:c.403C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-12-01 OMIM OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007;20004762 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 2009-12-01 +15 40471623 T A 40471623 40471623 + Haplotype 446172 RCV000002428 SCV000022586 439520 CHST14 NM_130468.3:c.410T>A NP_569735.1:p.Leu137Gln NM_130468.3:c.410T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-12-01 OMIM OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007;20004762 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 2009-12-01 +15 48744948 CGTT C 48744949 48744951 - Haplotype 446758 RCV000077752 SCV000109558 97524 CEP152 Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-05-01 OMIM OMIM Primary autosomal recessive microcephaly 9;MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 20301772;22775483 germline GeneReviews:NBK9587;GeneTests:279904;MedGen:C3553886;OMIM:614852;Orphanet:2512 2013-05-01 +15 48756099 A G 48756099 48756099 - Haplotype 446758 RCV000077752 SCV000109558 97321 CEP152 NM_001194998.1:c.3149T>C NP_001181927.1:p.Leu1050Pro NM_001194998.1:c.3149T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-05-01 OMIM OMIM Primary autosomal recessive microcephaly 9;MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 20301772;22775483 germline GeneReviews:NBK9587;GeneTests:279904;MedGen:C3553886;OMIM:614852;Orphanet:2512 2013-05-01 15 50490429 T G 50490429 50490429 + Haplotype 161994 RCV000149419 SCV000192010 171716 USP8 NM_005154.4:c.2138T>G NP_005145.3:p.Leu713Arg NM_001128610.2:c.2138T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-11-18 Institute of Human Genetics, Klinikum rechts der Isar Institute of Human Genetics, Klinikum rechts der Isar Pituitary dependent hypercortisolism;Pituitary dependent hypercortisolism 22720333 somatic GeneReviews:NBK97965;Genetic Alliance:Pituitary+dependent+hypercortisolism/9118;MedGen:C0221406;OMIM:219090;Orphanet:96253;SNOMED CT:190502001 2014-11-18 15 50490441 A G 50490441 50490441 + Haplotype 161994 RCV000149419 SCV000192010 171717 USP8 NM_005154.4:c.2150A>G NP_005145.3:p.Tyr717Cys NM_001128610.2:c.2150A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-11-18 Institute of Human Genetics, Klinikum rechts der Isar Institute of Human Genetics, Klinikum rechts der Isar Pituitary dependent hypercortisolism;Pituitary dependent hypercortisolism 22720333 somatic GeneReviews:NBK97965;Genetic Alliance:Pituitary+dependent+hypercortisolism/9118;MedGen:C0221406;OMIM:219090;Orphanet:96253;SNOMED CT:190502001 2014-11-18 15 50958492 G A 50958492 50958492 + Haplotype 224506 RCV000210065 SCV000265991 226246 AP4E1 NM_007347.4:c.1549G>A NP_031373.2:p.Val517Ile NM_007347.4:c.1549G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-03-16 OMIM OMIM Stuttering, familial persistent 1;STUTTERING, FAMILIAL PERSISTENT, 1 23239121;26544806 germline Gene:100049541;MedGen:C3489627;OMIM:184450 2016-03-16 15 50997380 G A 50997380 50997380 + Haplotype 224506 RCV000210065 SCV000265991 226245 AP4E1 NM_007347.4:c.2401G>A NP_031373.2:p.Glu801Lys NM_007347.4:c.2401G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-03-16 OMIM OMIM Stuttering, familial persistent 1;STUTTERING, FAMILIAL PERSISTENT, 1 23239121;26544806 germline Gene:100049541;MedGen:C3489627;OMIM:184450 2016-03-16 -15 72351207 C T 72351207 72351207 - Haplotype 3923 RCV000004129 SCV000024295 38431 HEXA NM_000520.5:c.598G>A NP_000511.2:p.Val200Met NM_000520.5:c.598G>A:missense variant;NR_134869.1:n.1099G>A:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1996-07-01 OMIM OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222;2976595;8198136;8659543 germline MedGen:C1848916 1996-07-01 -15 72351231 C G 72351231 72351231 - Haplotype 3923 RCV000004129 SCV000024295 18962 HEXA NM_000520.5:c.574G>C NP_000511.2:p.Val192Leu NM_000520.5:c.574G>C:missense variant;NR_134869.1:n.1075G>C:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1996-07-01 OMIM OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222;2976595;8198136;8659543 germline MedGen:C1848916 1996-07-01 +15 72351207 C T 72351207 72351207 - Haplotype 446267 RCV000004129 SCV000024295 38431 HEXA NM_000520.5:c.598G>A NP_000511.2:p.Val200Met NM_000520.5:c.598G>A:missense variant;NR_134869.1:n.1099G>A:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1996-07-01 OMIM OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222;2976595;8198136;8659543 germline MedGen:C1848916 1996-07-01 +15 72351231 C G 72351231 72351231 - Haplotype 446267 RCV000004129 SCV000024295 18962 HEXA NM_000520.5:c.574G>C NP_000511.2:p.Val192Leu NM_000520.5:c.574G>C:missense variant;NR_134869.1:n.1075G>C:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1996-07-01 OMIM OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222;2976595;8198136;8659543 germline MedGen:C1848916 1996-07-01 15 89323426 C G 89323426 89323426 - Phase unknown 157526 RCV000144870 SCV000172142 28546 POLG NM_002693.2:c.2243G>C NP_002684.1:p.Trp748Ser NM_002693.2:c.2243G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2013-11-01 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547;15824347;20301532;22189570;25025039;28812649 not applicable GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 15 89327006 C G 89327006 89327006 - Phase unknown 157526 RCV000144870 SCV000172142 28549 POLG NM_002693.2:c.1491G>C NP_002684.1:p.Gln497His NM_002693.2:c.1491G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2013-11-01 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547;15824347;20301532;22189570;25025039;28812649 not applicable GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 16 173510 C G 173510 173510 + Haplotype 375745 RCV000417222 SCV000503054 362631 HBA2 NM_000517.4:c.339C>G NP_000508.1:p.His113Gln NM_000517.4:c.339C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-12-29 GeneReviews GeneReviews alpha Thalassemia 20301608;25052315;8735302 germline GeneReviews:NBK1435;Genetic Alliance:Alpha-Thalassemia/333;MedGen:C0002312;OMIM:604131;Orphanet:846;SNOMED CT:68913001 2016-12-29 @@ -401,25 +439,27 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 16 15721421 C A 15721421 15721421 - Haplotype 14131 RCV000015192 SCV000035449 75290 MYH11 NM_001040113.1:c.4599+1G>T NM_001040113.1:c.4599+1G>T:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-03-01 OMIM OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 14722581;16444274;20301299;23788249;24882528;25173340;25356965;27854360 germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 2006-03-01 16 15726882 C A 15726882 15726882 - Haplotype 440783 RCV000015194 SCV000035451 29173 MYH11 NM_001040114.1:c.3845G>T NP_001035203.1:p.Arg1282Leu NM_001040113.1:c.3845G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2007-10-15 OMIM OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 17666408;20301299;23788249;24882528;25173340;25356965;27854360 germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 2007-10-15 16 15726915 A G 15726915 15726915 - Haplotype 440783 RCV000015194 SCV000035451 94510 MYH11 NM_001040113.1:c.3812T>C NP_001035202.1:p.Leu1271Pro NM_001040113.1:c.3812T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2007-10-15 OMIM OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 17666408;20301299;23788249;24882528;25173340;25356965;27854360 germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 2007-10-15 -16 30086309 C T 30086309 30086309 - Haplotype 188053 RCV000167863 SCV000218510 255673 TBX6 NM_004608.3:c.1227G>A NP_004599.2:p.Pro409= NM_004608.3:c.1227G>A:synonymous variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-22 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 25564734 germline Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 -16 30091481 T C 30091481 30091481 - Haplotype 188053 RCV000167863 SCV000218510 418555 TBX6 NM_004608.3:c.-48-240A>G NM_004608.3:c.-48-240A>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-22 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 25564734 germline Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 -16 30091839 C A 30091839 30091839 - Haplotype 188053 RCV000167863 SCV000218510 185945 TBX6 NM_004608.3:c.-49+34G>T NM_004608.3:c.-49+34G>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-22 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 25564734 germline Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 -16 47696408 T C 47696408 47696408 + Haplotype 13621 RCV000014591 SCV000034845 28660 PHKB NM_000293.2:c.2923T>C NP_000284.1:p.Tyr975His NM_000293.2:c.2923T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-07-01 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C1849812;OMIM:261750;Orphanet:79240 1997-07-01 -16 47696411 G T 47696411 47696411 + Haplotype 13621 RCV000014591 SCV000034845 38463 PHKB NM_000293.2:c.2926G>T NP_000284.1:p.Glu976Ter NM_000293.2:c.2926G>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-07-01 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C1849812;OMIM:261750;Orphanet:79240 1997-07-01 +16 30086309 C T 30086309 30086309 - Haplotype 188053 RCV000167863 SCV000218510 255673 TBX6 NM_004608.3:c.1227G>A NP_004599.2:p.Pro409= NM_004608.3:c.1227G>A:synonymous variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-22 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 20301771;25564734 germline GeneReviews:NBK8828;Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 +16 30091481 T C 30091481 30091481 - Haplotype 188053 RCV000167863 SCV000218510 418555 TBX6 NM_004608.3:c.-48-240A>G NM_004608.3:c.-48-240A>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-22 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 20301771;25564734 germline GeneReviews:NBK8828;Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 +16 30091839 C A 30091839 30091839 - Haplotype 188053 RCV000167863 SCV000218510 185945 TBX6 NM_004608.3:c.-49+34G>T NM_004608.3:c.-49+34G>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-22 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 20301771;25564734 germline GeneReviews:NBK8828;Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 +16 47696408 T C 47696408 47696408 + Haplotype 13621 RCV000014591 SCV000034845 28660 PHKB NM_000293.2:c.2923T>C NP_000284.1:p.Tyr975His NM_000293.2:c.2923T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-07-01 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C0543514;OMIM:261750;Orphanet:79240 1997-07-01 +16 47696411 G T 47696411 47696411 + Haplotype 13621 RCV000014591 SCV000034845 38463 PHKB NM_000293.2:c.2926G>T NP_000284.1:p.Glu976Ter NM_000293.2:c.2926G>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-07-01 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C0543514;OMIM:261750;Orphanet:79240 1997-07-01 16 56868355 C T 56868355 56868355 + Haplotype 8596 RCV000009127 SCV000029344 23635 SLC12A3 NM_000339.2:c.488C>T NP_000330.2:p.Thr163Met NM_000339.2:c.488C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-09-26 OMIM OMIM Familial hypokalemia-hypomagnesemia;GITELMAN SYNDROME 17000984;21343949 germline Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 2006-09-26 16 56894594 G A 56894594 56894594 + Haplotype 8596 RCV000009127 SCV000029344 38443 SLC12A3 NM_000339.2:c.2612G>A NP_000330.2:p.Arg871His NM_000339.2:c.2612G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2006-09-26 OMIM OMIM Familial hypokalemia-hypomagnesemia;GITELMAN SYNDROME 17000984;21343949 germline Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 2006-09-26 16 67942567 G A 67942567 67942567 - Haplotype 3667 RCV000003852 SCV000024017 38429 LCAT NM_000229.1:c.544C>T NP_000220.1:p.Arg182Cys NM_000229.1:c.544C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-02-01 OMIM OMIM Norum disease;LCAT DEFICIENCY 8432868 germline Genetic Alliance:Norum+disease/5271;MedGen:C0023195;OMIM:245900;Office of Rare Diseases:4011;Orphanet:650;Orphanet:79293 1993-02-01 16 67942939 C T 67942939 67942939 - Haplotype 3667 RCV000003852 SCV000024017 18706 LCAT NM_000229.1:c.349G>A NP_000220.1:p.Ala117Thr NM_000229.1:c.349G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-02-01 OMIM OMIM Norum disease;LCAT DEFICIENCY 8432868 germline Genetic Alliance:Norum+disease/5271;MedGen:C0023195;OMIM:245900;Office of Rare Diseases:4011;Orphanet:650;Orphanet:79293 1993-02-01 16 88720174 G A 88720174 88720174 - Haplotype 55809 RCV000049235 SCV000077488 70465 PIEZO1 NM_001142864.3:c.6059C>T NP_001136336.2:p.Ala2020Val NM_001142864.3:c.6059C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-05-09 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS 23479567;9718354 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 16 88727144 G A 88727144 88727144 - Haplotype 55809 RCV000049235 SCV000077488 70466 PIEZO1 NM_001142864.3:c.3350C>T NP_001136336.2:p.Ser1117Leu NM_001142864.3:c.3350C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-05-09 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS 23479567;9718354 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 -16 88733652 C T 88733652 88733652 - Haplotype 55813 RCV000049238 SCV000077491 70476 PIEZO1 NM_001142864.3:c.2423G>A NP_001136336.2:p.Arg808Gln NM_001142864.3:c.2423G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-07-02 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-07-02 -16 88733731 C T 88733731 88733731 - Haplotype 55813 RCV000049238 SCV000077491 70475 PIEZO1 NM_001142864.3:c.2344G>A NP_001136336.2:p.Gly782Ser NM_001142864.3:c.2344G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-07-02 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-07-02 -16 88734844 G C 88734844 88734844 - Haplotype 55813 RCV000049238 SCV000077491 70469 PIEZO1 NM_001142864.3:c.1848+31C>G NM_001142864.3:c.1848+31C>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-07-02 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-07-02 -17 8014699 G C 8014699 8014699 + Haplotype 9354 RCV000009948 SCV000030169 24393 GUCY2D NM_000180.3:c.2511G>C NP_000171.1:p.Glu837Asp NM_000180.3:c.2511G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-01 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01 -17 8014699 G C 8014699 8014699 + Haplotype 9356 RCV000009950 SCV000030171 24393 GUCY2D NM_000180.3:c.2511G>C NP_000171.1:p.Glu837Asp NM_000180.3:c.2511G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-08-01 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 9683616 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 1998-08-01 -17 8014700 C A 8014700 8014700 + Haplotype 9354 RCV000009948 SCV000030169 38445 GUCY2D NM_000180.3:c.2512C>A NP_000171.1:p.Arg838Ser NM_000180.3:c.2512C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-01 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01 -17 8014700 C T 8014700 8014700 + Haplotype 9356 RCV000009950 SCV000030171 24394 GUCY2D NM_000180.3:c.2512C>T NP_000171.1:p.Arg838Cys NM_000180.3:c.2512C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-08-01 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 9683616 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 1998-08-01 -17 8014704 C T 8014704 8014704 + Haplotype 9356 RCV000009950 SCV000030171 38391 GUCY2D NM_000180.3:c.2516C>T NP_000171.1:p.Thr839Met NM_000180.3:c.2516C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-08-01 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 9683616 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 1998-08-01 +16 88733652 C T 88733652 88733652 - Haplotype 55813 RCV000049238 SCV000077491 70476 PIEZO1 NM_001142864.3:c.2423G>A NP_001136336.2:p.Arg808Gln NM_001142864.3:c.2423G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-05-09 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 +16 88733731 C T 88733731 88733731 - Haplotype 55813 RCV000049238 SCV000077491 70475 PIEZO1 NM_001142864.3:c.2344G>A NP_001136336.2:p.Gly782Ser NM_001142864.3:c.2344G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-05-09 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 +16 88734844 G C 88734844 88734844 - Haplotype 55813 RCV000049238 SCV000077491 70469 PIEZO1 NM_001142864.3:c.1848+31C>G NM_001142864.3:c.1848+31C>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-05-09 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 +17 7220519 C T 7220519 7220519 + Haplotype 441528 RCV000001698 SCV000021854 16670 ACADVL NM_000018.3:c.194C>T NP_000009.1:p.Pro65Leu NM_000018.3:c.194C>T:missense variant;NM_001033859.2:c.139-85C>T:intron variant;NM_001270448.1:c.-35C>T:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-01 OMIM OMIM Very long chain acyl-CoA dehydrogenase deficiency;VLCAD DEFICIENCY 10790204;20301763 germline GeneReviews:NBK6816;Genetic Alliance:VLCAD+deficiency/7410;MedGen:C3887523;OMIM:201475;Office of Rare Diseases:5508;Orphanet:26793;SNOMED CT:237996001;SNOMED CT:237997005 2000-01-01 +17 7222068 A C 7222068 7222068 + Haplotype 441528 RCV000001698 SCV000021854 38417 ACADVL NM_000018.3:c.739A>C NP_000009.1:p.Lys247Gln NM_000018.3:c.739A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-01 OMIM OMIM Very long chain acyl-CoA dehydrogenase deficiency;VLCAD DEFICIENCY 10790204;20301763 germline GeneReviews:NBK6816;Genetic Alliance:VLCAD+deficiency/7410;MedGen:C3887523;OMIM:201475;Office of Rare Diseases:5508;Orphanet:26793;SNOMED CT:237996001;SNOMED CT:237997005 2000-01-01 +17 8014699 G C 8014699 8014699 + Haplotype 453243 RCV000009948 SCV000030169 24393 GUCY2D NM_000180.3:c.2511G>C NP_000171.1:p.Glu837Asp NM_000180.3:c.2511G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-01 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01 +17 8014699 G C 8014699 8014699 + Haplotype 453244 RCV000009950 SCV000030171 24393 GUCY2D NM_000180.3:c.2511G>C NP_000171.1:p.Glu837Asp NM_000180.3:c.2511G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-12-15 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10951519 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2017-12-15 +17 8014700 C A 8014700 8014700 + Haplotype 453243 RCV000009948 SCV000030169 38445 GUCY2D NM_000180.3:c.2512C>A NP_000171.1:p.Arg838Ser NM_000180.3:c.2512C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-01-01 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01 +17 8014700 C T 8014700 8014700 + Haplotype 453244 RCV000009950 SCV000030171 24394 GUCY2D NM_000180.3:c.2512C>T NP_000171.1:p.Arg838Cys NM_000180.3:c.2512C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-12-15 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10951519 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2017-12-15 +17 8014704 C T 8014704 8014704 + Haplotype 453244 RCV000009950 SCV000030171 38391 GUCY2D NM_000180.3:c.2516C>T NP_000171.1:p.Thr839Met NM_000180.3:c.2516C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-12-15 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10951519 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2017-12-15 17 17215294 G TC 17215294 17215294 - Haplotype 3377 RCV000003544 SCV000023702 243924 FLCN NM_144997.5:c.1323delCinsGA NP_659434.2:p.His442Thrfs NM_144997.5:c.1323delCinsGA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-09-01 OMIM OMIM Multiple fibrofolliculomas;BIRT-HOGG-DUBE SYNDROME 19320655;19562744;20301695;24319509;25394175 germline GeneReviews:NBK1522;Genetic Alliance:Multiple+fibrofolliculomas/8920;Genetics Home Reference:birt-hogg-dube-syndrome;MedGen:C0346010;OMIM:135150;Office of Rare Diseases:2322;Orphanet:122;SNOMED CT:110985001 2009-09-01 17 17215312 AAACTCTGTAAC A 17215313 17215323 - Haplotype 3377 RCV000003544 SCV000023702 18416 FLCN NM_144997.5:c.1301-7_1304delGTTACAGAGTT NM_144997.5:c.1301-7_1304delGTTACAGAGTT:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-09-01 OMIM OMIM Multiple fibrofolliculomas;BIRT-HOGG-DUBE SYNDROME 19320655;19562744;20301695;24319509;25394175 germline GeneReviews:NBK1522;Genetic Alliance:Multiple+fibrofolliculomas/8920;Genetics Home Reference:birt-hogg-dube-syndrome;MedGen:C0346010;OMIM:135150;Office of Rare Diseases:2322;Orphanet:122;SNOMED CT:110985001 2009-09-01 17 19657797 G A 19657797 19657797 + Haplotype 438264 RCV000504796 SCV000598618 260161 ALDH3A2 NM_000382.2:c.733G>A NP_000373.1:p.Asp245Asn NM_000382.2:c.733G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Rizzo Lab,University of Nebraska Medical Center Rizzo Lab,University of Nebraska Medical Center Sjögren-Larsson syndrome;Ichthyosis;Spasticity;Intellectual disability;Sjogren-Larsson syndrome 10577908 germline Genetic Alliance:Sjogren-Larsson+syndrome/6627;Genetics Home Reference:sjogren-larsson-syndrome;MedGen:C0037231;OMIM:270200;Office of Rare Diseases:7654;Orphanet:816;SNOMED CT:111303009 2017-06-01 @@ -427,8 +467,10 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 17 19661230 CT C 19661234 19661234 + Haplotype 438264 RCV000504796 SCV000598618 431887 ALDH3A2 NM_000382.2:c.906delT NP_000373.1:p.Phe302Leufs NM_000382.2:c.906delT:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Rizzo Lab,University of Nebraska Medical Center Rizzo Lab,University of Nebraska Medical Center Sjögren-Larsson syndrome;Ichthyosis;Spasticity;Intellectual disability;Sjogren-Larsson syndrome 10577908 germline Genetic Alliance:Sjogren-Larsson+syndrome/6627;Genetics Home Reference:sjogren-larsson-syndrome;MedGen:C0037231;OMIM:270200;Office of Rare Diseases:7654;Orphanet:816;SNOMED CT:111303009 2017-06-01 17 19661237 T G 19661237 19661237 + Haplotype 438264 RCV000504796 SCV000598618 431888 ALDH3A2 NM_000382.2:c.909T>G NP_000373.1:p.Gly303= NM_000382.2:c.909T>G:synonymous variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Rizzo Lab,University of Nebraska Medical Center Rizzo Lab,University of Nebraska Medical Center Sjögren-Larsson syndrome;Ichthyosis;Spasticity;Intellectual disability;Sjogren-Larsson syndrome 10577908 germline Genetic Alliance:Sjogren-Larsson+syndrome/6627;Genetics Home Reference:sjogren-larsson-syndrome;MedGen:C0037231;OMIM:270200;Office of Rare Diseases:7654;Orphanet:816;SNOMED CT:111303009 2017-06-01 17 31250916 TA T 31250917 31250917 + Haplotype 217112 RCV000200907 SCV000255592 213715 NF1 NM_001042492.2:c.4110+1798del NM_000267.3:c.4110+1798del:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 0000-00-00 Medical Genomics Laboratory,Department of Genetics UAB Medical Genomics Laboratory,Department of Genetics UAB Neurofibromatosis, type 1;Neurofibromatosis, type 1 15604628;17636453;20065170;20301288;20301471;24893135;26189818 loss of function unknown GeneReviews:NBK1109;Genetic Alliance:Neurofibromatosis+type+1/5174;Genetic Testing Registry (GTR):GTR000260605;Genetic Testing Registry (GTR):GTR000335545;Genetic Testing Registry (GTR):GTR000500115;Genetic Testing Registry (GTR):GTR000500672;Genetic Testing Registry (GTR):GTR000500881;Genetic Testing Registry (GTR):GTR000500970;Genetic Testing Registry (GTR):GTR000500971;Genetic Testing Registry (GTR):GTR000500972;Genetic Testing Registry (GTR):GTR000501087;Genetic Testing Registry (GTR):GTR000501088;Genetic Testing Registry (GTR):GTR000509686;Genetic Testing Registry (GTR):GTR000510677;Genetic Testing Registry (GTR):GTR000510679;Genetic Testing Registry (GTR):GTR000511186;Genetic Testing Registry (GTR):GTR000511188;Genetic Testing Registry (GTR):GTR000514608;Genetic Testing Registry (GTR):GTR000514913;Genetic Testing Registry (GTR):GTR000514981;Genetic Testing Registry (GTR):GTR000515566;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520393;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000521399;Genetic Testing Registry (GTR):GTR000521505;Genetic Testing Registry (GTR):GTR000521546;Genetic Testing Registry (GTR):GTR000522322;Genetic Testing Registry (GTR):GTR000528459;Genetic Testing Registry (GTR):GTR000528529;Genetic Testing Registry (GTR):GTR000528533;Genetic Testing Registry (GTR):GTR000528913;Genetic Testing Registry (GTR):GTR000528930;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000529068;Genetic Testing Registry (GTR):GTR000551630;Genetic Testing Registry (GTR):GTR000552183;Genetic Testing Registry (GTR):GTR000552305;Genetic Testing Registry (GTR):GTR000556576;MedGen:C0027831;OMIM:162200;OMIM:613113.0001;OMIM:613113.0002;OMIM:613113.0003;OMIM:613113.0004;OMIM:613113.0005;OMIM:613113.0006;OMIM:613113.0007;OMIM:613113.0008;OMIM:613113.0009;OMIM:613113.0012;OMIM:613113.0013;OMIM:613113.0014;OMIM:613113.0015;OMIM:613113.0016;OMIM:613113.0021;OMIM:613113.0022;OMIM:613113.0023;OMIM:613113.0024;OMIM:613113.0025;OMIM:613113.0026;OMIM:613113.0027;OMIM:613113.0029;OMIM:613113.0030;OMIM:613113.0031;OMIM:613113.0032;OMIM:613113.0037;OMIM:613113.0038;OMIM:613113.0040;OMIM:613113.0041;OMIM:613113.0042;OMIM:613113.0043;OMIM:613113.0044;OMIM:613113.0046;Office of Rare Diseases:7866;Orphanet:636;Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília:R34;SNOMED CT:92824003 0000-00-00 -17 43095875 T C 43095875 43095875 - Haplotype 236265 RCV000225499 SCV000282252 46245 BRCA1 NM_007294.3:c.641A>G NP_009225.1:p.Asp214Gly NM_007294.3:c.641A>G:missense variant;NR_027676.1:n.777A>G:non-coding transcript variant Benign benign 0 0 0 0 1 reviewed by expert panel reviewed by expert panel 2016-04-15 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;Genetics Home Reference:ovarian-cancer;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 -17 43095924 T G 43095924 43095924 - Haplotype 236265 RCV000225499 SCV000282252 46242 BRCA1 NM_007294.3:c.594-2A>C NM_007294.3:c.594-2A>C:splice acceptor variant Benign benign 0 0 0 0 1 reviewed by expert panel reviewed by expert panel 2016-04-15 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;Genetics Home Reference:ovarian-cancer;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 +17 43095875 T C 43095875 43095875 - Haplotype 236265 RCV000225499 SCV000282252 46245 BRCA1 NM_007294.3:c.641A>G NP_009225.1:p.Asp214Gly NM_007294.3:c.641A>G:missense variant;NR_027676.1:n.777A>G:non-coding transcript variant Benign benign 0 0 0 0 1 reviewed by expert panel reviewed by expert panel 2016-04-15 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 +17 43095924 T G 43095924 43095924 - Haplotype 236265 RCV000225499 SCV000282252 46242 BRCA1 NM_007294.3:c.594-2A>C NM_007294.3:c.594-2A>C:splice acceptor variant Benign benign 0 0 0 0 1 reviewed by expert panel reviewed by expert panel 2016-04-15 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 +17 43124094 C T 43124094 43124094 - Haplotype 487432 RCV000576499 SCV000677891 424868 BRCA1 NM_007294.3:c.3G>A NP_009225.1:p.Met1Ile NM_007294.3:c.3G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-05 Counsyl Counsyl Breast-ovarian cancer, familial 1 15604628;16267036;16941470;17392385;17508274;19305347;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27854360 loss of function unknown GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2017-04-05 +17 43124097 T C 43124097 43124097 - Haplotype 487432 RCV000576499 SCV000677891 480485 BRCA1 NM_007294.3:c.-1A>G Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-05 Counsyl Counsyl Breast-ovarian cancer, familial 1 15604628;16267036;16941470;17392385;17508274;19305347;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27854360 loss of function unknown GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2017-04-05 17 44911369 C T 44911369 44911369 - Haplotype 190352 RCV000192152 SCV000223016 77412 GFAP NM_002055.4:c.994G>A NP_002046.1:p.Glu332Lys NM_002055.4:c.994G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-08 GeneReviews GeneReviews Alexander's disease;Alexander's disease 18004641;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 17 44911375 G C 44911375 44911375 - Haplotype 190352 RCV000192152 SCV000223016 77410 GFAP NM_002055.4:c.988C>G NP_002046.1:p.Arg330Gly NM_002055.4:c.988C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-08 GeneReviews GeneReviews Alexander's disease;Alexander's disease 18004641;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 17 44913382 C G 44913382 44913382 - Haplotype 190336 RCV000192110 SCV000222969 77391 GFAP NM_002055.4:c.667G>C NP_002046.1:p.Glu223Gln NM_002055.4:c.667G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-08 GeneReviews GeneReviews Alexander's disease;Alexander's disease 14707518;15060693;19444543;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 @@ -437,6 +479,8 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 17 63941814 A G 63941814 63941814 - Haplotype 21158 RCV000020275 SCV000040630 34010 SCN4A NM_000334.4:c.4468T>C NP_000325.4:p.Phe1490Leu NM_000334.4:c.4468T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-01-28 GeneReviews GeneReviews Hyperkalemic Periodic Paralysis Type 1 10930446;20298421;20301669 germline GeneReviews:NBK1496;GeneTests:2133;Genetic Alliance:Hyperkalemic+Periodic+Paralysis+Type+1/8591;MedGen:CN074266;OMIM:170500;Orphanet:682 2016-01-28 17 75517064 T C 75517064 75517064 + Haplotype 2121 RCV000002203 SCV000022361 38422 TSEN54 NM_207346.2:c.277T>C NP_997229.2:p.Ser93Pro NM_207346.2:c.277T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-09-01 OMIM OMIM Pontocerebellar hypoplasia type 4;PONTOCEREBELLAR HYPOPLASIA, TYPE 4 18711368;20301773 germline GeneReviews:NBK9673;Genetic Alliance:Pontocerebellar+hypoplasia+type+4/5866;MedGen:C1856974;OMIM:225753;Office of Rare Diseases:343;Orphanet:166063 2008-09-01 17 75522000 G T 75522000 75522000 + Haplotype 2121 RCV000002203 SCV000022361 17159 TSEN54 NM_207346.2:c.919G>T NP_997229.2:p.Ala307Ser NM_207346.2:c.919G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-09-01 OMIM OMIM Pontocerebellar hypoplasia type 4;PONTOCEREBELLAR HYPOPLASIA, TYPE 4 18711368;20301773 germline GeneReviews:NBK9673;Genetic Alliance:Pontocerebellar+hypoplasia+type+4/5866;MedGen:C1856974;OMIM:225753;Office of Rare Diseases:343;Orphanet:166063 2008-09-01 +17 81717813 C T 81717813 81717813 + Haplotype 446176 RCV000516170 SCV000611120 439524 SLC25A10 NM_001270888.1:c.684C>T NP_001257817.1:p.Pro228= NM_001270888.1:c.684C>T:synonymous variant;NM_001270953.1:c.574C>T:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Computational Biology Unit,University of Bari Computational Biology Unit,University of Bari Mitochondrial complex I deficiency;Epileptic encephalopathy;Decreased activity of mitochondrial complex I;Infantile muscular hypotonia 29211846 not applicable;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;HP:HP:0008947;HP:HP:0011923;HP:HP:0200134;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 0000-00-00 +17 81719939 G A 81719939 81719939 + Haplotype 446176 RCV000516170 SCV000611120 439525 SLC25A10 NM_001270888.1:c.790-37G>A NM_001270888.1:c.790-37G>A:intron variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Computational Biology Unit,University of Bari Computational Biology Unit,University of Bari Mitochondrial complex I deficiency;Epileptic encephalopathy;Decreased activity of mitochondrial complex I;Infantile muscular hypotonia 29211846 not applicable;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;HP:HP:0008947;HP:HP:0011923;HP:HP:0200134;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 0000-00-00 18 3215158 CAC GAG 3215158 3215160 - Haplotype 229030 RCV000221703 SCV000272178 230906 MYOM1 NM_003803.3:c.64_66delGTGinsCTC NP_003794.3:p.Val22Leu NM_003803.3:c.64_66delGTGinsCTC:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-07-08 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-08 18 3215159 A C 3215159 3215159 - Haplotype 229030 RCV000221703 SCV000272178 230904 MYOM1 NM_003803.3:c.65T>G NP_003794.3:p.Val22Gly NM_003803.3:c.65T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-07-08 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-08 18 45865614 C G 45865614 45865614 - Haplotype 267449 RCV000496979 SCV000328418 262702 EPG5 NM_020964.2:c.6766+1G>C NM_020964.2:c.6766+1G>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-11 Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Absent corpus callosum cataract immunodeficiency;Vici syndrome 21965116;28615637;3344762 germline Genetic Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81;MedGen:C1855772;OMIM:242840;Office of Rare Diseases:448;Orphanet:1493 2016-08-11 @@ -481,34 +525,63 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 19 11107506 A G 11107506 11107506 + Haplotype 430769 RCV000495938 SCV000583762 245864 LDLR NM_000527.4:c.932A>G NP_000518.1:p.Lys311Arg NM_000527.4:c.932A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-30 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 19 11107513 C G 11107513 11107513 + Haplotype 430769 RCV000495938 SCV000583762 245873 LDLR NM_000527.4:c.939C>G NP_000518.1:p.Cys313Trp NM_000527.4:c.939C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-30 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 19 11113359 T C 11113359 11113359 + Haplotype 430765 RCV000495914 SCV000583747 246074 LDLR NM_000527.4:c.1268T>C NP_000518.1:p.Ile423Thr NM_000527.4:c.1268T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-30 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;28145427 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 -19 11116197 A C 11116197 11116197 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 18776 LDLR NM_000527.4:c.1690A>C NP_000518.1:p.Asn564His NM_000527.4:c.1690A>C:missense variant Pathogenic, other other;pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2017-03-30 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2012-05-04;2017-03-30 +19 11116197 A C 11116197 11116197 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 18776 LDLR NM_000527.4:c.1690A>C NP_000518.1:p.Asn564His NM_000527.4:c.1690A>C:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2017-03-30 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 1997-01-01;2017-03-30 19 11120225 A C 11120225 11120225 + Haplotype 430800 RCV000495898 SCV000583944 424334 LDLR NM_000527.4:c.1979A>C NP_000518.1:p.Gln660Pro NM_000527.4:c.1979A>C:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-30 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 19 11128055 G A 11128055 11128055 + Haplotype 430800 RCV000495898 SCV000583944 424344 LDLR NM_000527.4:c.2359G>A NP_000518.1:p.Val787Met NM_000527.4:c.2359G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-30 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 -19 11129515 CTCCTCGTCT C 11129520 11129528 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 71434 LDLR NM_000527.4:c.2397_2405delCGTCTTCCT NP_000518.1:p.Val800_Leu802del NM_000527.4:c.2397_2405delCGTCTTCCT:inframe_variant Pathogenic, other other;pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2017-03-30 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2012-05-04;2017-03-30 +19 11129515 CTCCTCGTCT C 11129520 11129528 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 71434 LDLR NM_000527.4:c.2397_2405delCGTCTTCCT NP_000518.1:p.Val800_Leu802del NM_000527.4:c.2397_2405delCGTCTTCCT:inframe_variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2017-03-30 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 1997-01-01;2017-03-30 19 18594338 A C 18594338 18594338 - Haplotype 5706 RCV000006060 SCV000026242 34280 CRLF1 NM_004750.4:c.1121T>G NP_004741.1:p.Leu374Arg NM_004750.4:c.1121T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2003-02-01 OMIM OMIM Cold-induced sweating syndrome 1;COLD-INDUCED SWEATING SYNDROME 1 12509788;21370513 germline GeneReviews:NBK52917;Genetic Alliance:Cold-induced+sweating+syndrome+1/8000;Genetic Alliance:Crisponi+Syndrome/2012;MedGen:C1848947;OMIM:272430;Orphanet:157820 2003-02-01 19 18599720 C T 18599720 18599720 - Haplotype 5706 RCV000006060 SCV000026242 20745 CRLF1 NM_004750.4:c.242G>A NP_004741.1:p.Arg81His NM_004750.4:c.242G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2003-02-01 OMIM OMIM Cold-induced sweating syndrome 1;COLD-INDUCED SWEATING SYNDROME 1 12509788;21370513 germline GeneReviews:NBK52917;Genetic Alliance:Cold-induced+sweating+syndrome+1/8000;Genetic Alliance:Crisponi+Syndrome/2012;MedGen:C1848947;OMIM:272430;Orphanet:157820 2003-02-01 19 35842429 T A 35842429 35842429 - Haplotype 6872 RCV000007275 SCV000027471 38439 NPHS1 NM_004646.3:c.2456A>T NP_004637.1:p.Asp819Val NM_004646.3:c.2456A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-02-01 OMIM OMIM Finnish congenital nephrotic syndrome;NEPHROTIC SYNDROME, TYPE 1 10652016 germline Genetic Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861;MedGen:C0403399;OMIM:256300;OMIM:602716.0001;OMIM:602716.0002;OMIM:602716.0003;OMIM:602716.0004;OMIM:602716.0005;OMIM:602716.0006;OMIM:602716.0007;OMIM:602716.0008;OMIM:602716.0009;OMIM:602716.0010;Office of Rare Diseases:1500;Orphanet:839;SNOMED CT:197601003 2000-02-01 19 35848142 C T 35848142 35848142 - Haplotype 6872 RCV000007275 SCV000027471 21911 NPHS1 NM_004646.3:c.1339G>A NP_004637.1:p.Glu447Lys NM_004646.3:c.1339G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-02-01 OMIM OMIM Finnish congenital nephrotic syndrome;NEPHROTIC SYNDROME, TYPE 1 10652016 germline Genetic Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861;MedGen:C0403399;OMIM:256300;OMIM:602716.0001;OMIM:602716.0002;OMIM:602716.0003;OMIM:602716.0004;OMIM:602716.0005;OMIM:602716.0006;OMIM:602716.0007;OMIM:602716.0008;OMIM:602716.0009;OMIM:602716.0010;Office of Rare Diseases:1500;Orphanet:839;SNOMED CT:197601003 2000-02-01 -19 38489352 AAG A 38489355 38489356 + Haplotype 29876 RCV000022757 SCV000044046 38831 RYR1 NM_000540.2:c.5726_5727delAG NP_000531.2:p.Glu1909Glyfs NM_000540.2:c.5726_5727delAG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-09-07 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2012-09-07 +19 38489352 AAG A 38489355 38489356 + Haplotype 29876 RCV000022757 SCV000044046 38831 RYR1 NM_000540.2:c.5726_5727delAG NP_000531.2:p.Glu1909Glyfs NM_000540.2:c.5726_5727delAG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-11-01 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 19 38504319 C T 38504319 38504319 + Haplotype 12985 RCV000013857 SCV000034104 28024 RYR1 NM_000540.2:c.8026C>T NP_000531.2:p.Arg2676Trp NM_000540.2:c.8026C>T:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-01-01 OMIM OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627;14870754;16163667;16917943;20301325;23788249;25356965;27854360 germline GeneReviews:NBK1146;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 2004-01-01 19 38505358 C G 38505358 38505358 + Haplotype 12985 RCV000013857 SCV000034104 38459 RYR1 NM_000540.2:c.8360C>G NP_000531.2:p.Thr2787Ser NM_000540.2:c.8360C>G:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-01-01 OMIM OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627;14870754;16163667;16917943;20301325;23788249;25356965;27854360 germline GeneReviews:NBK1146;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 2004-01-01 -19 38512253 T C 38512253 38512253 + Haplotype 29876 RCV000022757 SCV000044046 51078 RYR1 NM_000540.2:c.9242T>C NP_000531.2:p.Met3081Thr NM_000540.2:c.9242T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-09-07 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2012-09-07 +19 38512253 T C 38512253 38512253 + Haplotype 29876 RCV000022757 SCV000044046 51078 RYR1 NM_000540.2:c.9242T>C NP_000531.2:p.Met3081Thr NM_000540.2:c.9242T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-11-01 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 +19 38523211 C G 38523211 38523211 + Haplotype 65396 RCV000022758 SCV000044047 70540 RYR1 NM_000540.2:c.10348-6C>G NM_000540.2:c.10348-6C>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-11-01 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 18253926;20301467;20839240;22009146;23788249;27854218;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 +19 38580382 G A 38580382 38580382 + Haplotype 65396 RCV000022758 SCV000044047 38832 RYR1 NM_000540.2:c.14524G>A NP_000531.2:p.Val4842Met NM_000540.2:c.14524G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-11-01 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 18253926;20301467;20839240;22009146;23788249;27854218;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 19 41860817 G T 41860817 41860817 + Haplotype 6319 RCV000033188 SCV000057024 21358 RPS19 NM_001022.3:c.43G>T NP_001013.1:p.Val15Phe NM_001022.3:c.43G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2003-06-15 OMIM OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610;20301769 germline GeneReviews:NBK7047;Genetic Alliance:Diamond-Blackfan+anemia+1/8226;MedGen:C2676137;OMIM:105650;Orphanet:124 2003-06-15 19 41861204 C T 41861204 41861204 + Haplotype 6319 RCV000033188 SCV000057024 38387 RPS19 NM_001022.3:c.164C>T NP_001013.1:p.Thr55Met NM_001022.3:c.164C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2003-06-15 OMIM OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610;20301769 germline GeneReviews:NBK7047;Genetic Alliance:Diamond-Blackfan+anemia+1/8226;MedGen:C2676137;OMIM:105650;Orphanet:124 2003-06-15 +19 44907807 G A 44907807 44907807 + Haplotype 441264 RCV000019443 SCV000039733 32899 APOE NM_000041.3:c.91G>A NP_000032.1:p.Glu31Lys NM_000041.3:c.91G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-11-01 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA 1361196;1674745;22962670 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1992-11-01 +19 44907853 T C 44907853 44907853 + Haplotype 441268 RCV000019456 SCV000039746 32909 APOE NM_000041.3:c.137T>C NP_000032.1:p.Leu46Pro NM_000041.3:c.137T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-15 OMIM OMIM APOE4(-)-FREIBURG;APOE4(-)-FREIBURG 21500874 germline OMIM:107741.0023 2017-02-15 +19 44908601 C G 44908601 44908601 + Haplotype 441269 RCV000019458 SCV000039748 32911 APOE NM_000041.3:c.305C>G NP_000032.1:p.Pro102Arg NM_000041.3:c.305C>G:missense variant association association 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2018-01-10 OMIM OMIM APOE4 VARIANT;APOE4 VARIANT 18583979;21500874;2341812;3585172 germline OMIM:107741.0025;OMIM:107741.0028 2018-01-10 +19 44908645 G A 44908645 44908645 + Haplotype 441270 RCV000019459 SCV000039749 32912 APOE NM_000041.3:c.349G>A NP_000032.1:p.Ala117Thr NM_000041.3:c.349G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-07-01 OMIM OMIM APOE3 VARIANT;APOE3 VARIANT 18583979;6327682 germline OMIM:107741.0026 2008-07-01 +19 44908684 T C 44908684 44908684 + Haplotype 440870 RCV000019438 SCV000039727 32903 APOE NM_000041.3:c.388T>C NP_000032.1:p.Cys130Arg NM_000041.3:c.388T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-14 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT 1730728;21500874;22962670;25333069;2539388;6860421 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 2017-02-14 +19 44908684 T C 44908684 44908684 + Haplotype 441267 RCV000019455 SCV000039745 32903 APOE NM_000041.3:c.388T>C NP_000032.1:p.Cys130Arg NM_000041.3:c.388T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-05-01 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4 21500874;22962670;8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1993-05-01 +19 44908684 T C 44908684 44908684 + Haplotype 441268 RCV000019456 SCV000039746 32903 APOE NM_000041.3:c.388T>C NP_000032.1:p.Cys130Arg NM_000041.3:c.388T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-15 OMIM OMIM APOE4(-)-FREIBURG;APOE4(-)-FREIBURG 21500874 germline OMIM:107741.0023 2017-02-15 +19 44908684 T C 44908684 44908684 + Haplotype 441269 RCV000019458 SCV000039748 32903 APOE NM_000041.3:c.388T>C NP_000032.1:p.Cys130Arg NM_000041.3:c.388T>C:missense variant association association 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2018-01-10 OMIM OMIM APOE4 VARIANT;APOE4 VARIANT 18583979;21500874;2341812;3585172 germline OMIM:107741.0025;OMIM:107741.0028 2018-01-10 +19 44908730 G A 44908730 44908730 + Haplotype 441262 RCV000019439 SCV000039729 32895 APOE NM_000041.3:c.434G>A NP_000032.1:p.Gly145Asp NM_000041.3:c.434G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1984-04-01 OMIM OMIM Apolipoproteinemia E1;APOLIPOPROTEINEMIA E1 6323533 germline 1984-04-01 +19 44908774 C T 44908774 44908774 + Haplotype 440870 RCV000019438 SCV000039727 38488 APOE NM_000041.3:c.478C>T NP_000032.1:p.Arg160Cys NM_000041.3:c.478C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-14 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT 1730728;21500874;22962670;25333069;2539388;6860421 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 2017-02-14 +19 44908783 C T 44908783 44908783 + Haplotype 441264 RCV000019443 SCV000039733 32890 APOE NM_000041.3:c.487C>T NP_000032.1:p.Arg163Cys NM_000041.3:c.487C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-11-01 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA 1361196;1674745;22962670 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1992-11-01 +19 44908804 G C 44908804 44908804 + Haplotype 441270 RCV000019459 SCV000039749 38495 APOE NM_000041.3:c.508G>C NP_000032.1:p.Ala170Pro NM_000041.3:c.508G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-07-01 OMIM OMIM APOE3 VARIANT;APOE3 VARIANT 18583979;6327682 germline OMIM:107741.0026 2008-07-01 +19 44908822 C T 44908822 44908822 + Haplotype 441262 RCV000019439 SCV000039729 32887 APOE NM_000041.3:c.526C>T NP_000032.1:p.Arg176Cys NM_000041.3:c.526C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1984-04-01 OMIM OMIM Apolipoproteinemia E1;APOLIPOPROTEINEMIA E1 6323533 germline 1984-04-01 +19 44908822 C T 44908822 44908822 + Haplotype 441265 RCV000019452 SCV000039741 32887 APOE NM_000041.3:c.526C>T NP_000032.1:p.Arg176Cys NM_000041.3:c.526C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-21 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III 22962670;8664327 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 2017-02-21 +19 44908822 C T 44908822 44908822 + Haplotype 441266 RCV000019454 SCV000039744 32887 APOE NM_000041.3:c.526C>T NP_000032.1:p.Arg176Cys NM_000041.3:c.526C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-05-01 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2 22962670;8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1993-05-01 +19 44909021 G A 44909021 44909021 + Haplotype 441265 RCV000019452 SCV000039741 38490 APOE NM_000041.3:c.725G>A NP_000032.1:p.Arg242Gln NM_000041.3:c.725G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-02-21 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III 22962670;8664327 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 2017-02-21 +19 44909057 T A 44909057 44909057 + Haplotype 441266 RCV000019454 SCV000039744 38491 APOE NM_000041.3:c.761T>A NP_000032.1:p.Val254Glu NM_000041.3:c.761T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-05-01 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2 22962670;8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1993-05-01 +19 44909080 G A 44909080 44909080 + Haplotype 441263 RCV000019435 SCV000039725 32893 APOE NM_000041.3:c.784G>A NP_000032.1:p.Glu262Lys NM_000041.3:c.784G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1995-08-01 OMIM OMIM HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7;HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7 2470732;2738044;6480826;7586659 germline OMIM:107741.0007 1995-08-01 +19 44909083 G A 44909083 44909083 + Haplotype 441263 RCV000019435 SCV000039725 38487 APOE NM_000041.3:c.787G>A NP_000032.1:p.Glu263Lys NM_000041.3:c.787G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1995-08-01 OMIM OMIM HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7;HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7 2470732;2738044;6480826;7586659 germline OMIM:107741.0007 1995-08-01 +19 44909101 C G 44909101 44909101 + Haplotype 441267 RCV000019455 SCV000039745 38492 APOE NM_000041.3:c.805C>G NP_000032.1:p.Arg269Gly NM_000041.3:c.805C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-05-01 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4 21500874;22962670;8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1993-05-01 19 46755524 C A 46755524 46755524 + Phase unknown 224674 RCV000226653 SCV000265787 226485 FKRP NM_024301.4:c.74C>A NP_077277.1:p.Ser25Ter NM_024301.4:c.74C>A:nonsense Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-01 Center for Genetic Medicine Research,Children's National Medical Center Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;MedGen:C1846672;OMIM:606596.0004;OMIM:606596.0005;OMIM:606596.0006;OMIM:606596.0011;OMIM:606596.0012;OMIM:606596.0013;OMIM:606596.0014;OMIM:606596.0015;OMIM:606596.0016;OMIM:607155;Orphanet:34515 2015-12-01 19 46755524 CGT C 46755526 46755527 + Phase unknown 224674 RCV000226653 SCV000265787 226486 FKRP NM_024301.4:c.76_77delTG NP_077277.1:p.Trp26Alafs NM_024301.4:c.76_77delTG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-01 Center for Genetic Medicine Research,Children's National Medical Center Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;MedGen:C1846672;OMIM:606596.0004;OMIM:606596.0005;OMIM:606596.0006;OMIM:606596.0011;OMIM:606596.0012;OMIM:606596.0013;OMIM:606596.0014;OMIM:606596.0015;OMIM:606596.0016;OMIM:607155;Orphanet:34515 2015-12-01 19 46756276 C A 46756276 46756276 + Phase unknown 224674 RCV000226653 SCV000265787 19260 FKRP NM_024301.4:c.826C>A NP_077277.1:p.Leu276Ile NM_024301.4:c.826C>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-01 Center for Genetic Medicine Research,Children's National Medical Center Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;MedGen:C1846672;OMIM:606596.0004;OMIM:606596.0005;OMIM:606596.0006;OMIM:606596.0011;OMIM:606596.0012;OMIM:606596.0013;OMIM:606596.0014;OMIM:606596.0015;OMIM:606596.0016;OMIM:607155;Orphanet:34515 2015-12-01 -20 4699605 A G 4699605 4699605 + Haplotype 13399 RCV000014336 SCV000034585 28436 PRNP NM_000311.4:c.385A>G NP_000302.1:p.Met129Val NM_000311.4:c.385A>G:missense variant;NM_001271561.1:c.*74A>G:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-11-26 OMIM OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20298421;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004 2008-11-26 +19 48965326 C T 48965326 48965326 + Haplotype 441527 RCV000017941 SCV000038220 31516 FTL NM_000146.3:c.-182C>T NM_000146.3:c.-182C>T:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-02-19 OMIM OMIM Hyperferritinemia cataract syndrome;HYPERFERRITINEMIA WITH OR WITHOUT CATARACT 23421845;9226182 germline Genetic Alliance:Hyperferritinemia+cataract+syndrome/3553;Genetics Home Reference:hyperferritinemia-cataract-syndrome;MedGen:C1833213;OMIM:134790.0001;OMIM:134790.0002;OMIM:134790.0003;OMIM:134790.0004;OMIM:134790.0005;OMIM:134790.0006;OMIM:134790.0007;OMIM:134790.0008;OMIM:134790.0009;OMIM:134790.0011;OMIM:134790.0012;OMIM:134790.0017;OMIM:134790.0020;OMIM:600886;Office of Rare Diseases:2806;Orphanet:163 2013-02-19 +19 48965330 T G 48965330 48965330 + Haplotype 441527 RCV000017941 SCV000038220 260732 FTL NM_000146.3:c.-178T>G NM_000146.3:c.-178T>G:5 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-02-19 OMIM OMIM Hyperferritinemia cataract syndrome;HYPERFERRITINEMIA WITH OR WITHOUT CATARACT 23421845;9226182 germline Genetic Alliance:Hyperferritinemia+cataract+syndrome/3553;Genetics Home Reference:hyperferritinemia-cataract-syndrome;MedGen:C1833213;OMIM:134790.0001;OMIM:134790.0002;OMIM:134790.0003;OMIM:134790.0004;OMIM:134790.0005;OMIM:134790.0006;OMIM:134790.0007;OMIM:134790.0008;OMIM:134790.0009;OMIM:134790.0011;OMIM:134790.0012;OMIM:134790.0017;OMIM:134790.0020;OMIM:600886;Office of Rare Diseases:2806;Orphanet:163 2013-02-19 +19 49016626 A G 49016626 49016626 - Haplotype 441529 RCV000015495 SCV000035760 38465 LHB NM_000894.2:c.104T>C NP_000885.1:p.Ile35Thr NM_000894.2:c.104T>C:missense variant Benign benign 0 0 0 0 1 no assertion criteria provided no assertion criteria provided 2003-03-01 OMIM OMIM LUTEINIZING HORMONE POLYMORPHISM;LUTEINIZING HORMONE POLYMORPHISM 10199775;10323405;10468997;12620433;1727817;7714098;7904610;8784083 germline OMIM:152780.0002 2003-03-01 +19 49016648 A G 49016648 49016648 - Haplotype 441529 RCV000015495 SCV000035760 29453 LHB NM_000894.2:c.82T>C NP_000885.1:p.Trp28Arg NM_000894.2:c.82T>C:missense variant Benign benign 0 0 0 0 1 no assertion criteria provided no assertion criteria provided 2003-03-01 OMIM OMIM LUTEINIZING HORMONE POLYMORPHISM;LUTEINIZING HORMONE POLYMORPHISM 10199775;10323405;10468997;12620433;1727817;7714098;7904610;8784083 germline OMIM:152780.0002 2003-03-01 20 4699605 A G 4699605 4699605 + Haplotype 13399 RCV000014337 SCV000034586 28436 PRNP NM_000311.4:c.385A>G NP_000302.1:p.Met129Val NM_000311.4:c.385A>G:missense variant;NM_001271561.1:c.*74A>G:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-11-26 OMIM OMIM Fatal familial insomnia 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008 2008-11-26 -20 4699752 G A 4699752 4699752 + Haplotype 13399 RCV000014336 SCV000034585 28438 PRNP NM_000311.4:c.532G>A NP_000302.1:p.Asp178Asn NM_000311.4:c.532G>A:missense variant;NM_001271561.1:c.*221G>A:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-11-26 OMIM OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20298421;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004 2008-11-26 +20 4699605 A G 4699605 4699605 + Haplotype 453225 RCV000032588 SCV000034587 28436 PRNP NM_000311.4:c.385A>G NP_000302.1:p.Met129Val NM_000311.4:c.385A>G:missense variant;NM_001271561.1:c.*74A>G:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-01-05 OMIM OMIM Fatal familial insomnia;FATAL FAMILIAL INSOMNIA 1347910;1357594;14732629;15623717;15806397;16227536;20038778;20301407;7630420;7783865;8105681 germline GeneReviews:NBK1229;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008 2010-01-05 +20 4699605 A G 4699605 4699605 + Haplotype 453226 RCV000014336 SCV000034585 28436 PRNP NM_000311.4:c.385A>G NP_000302.1:p.Met129Val NM_000311.4:c.385A>G:missense variant;NM_001271561.1:c.*74A>G:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-11-26 OMIM OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20298421;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004 2008-11-26 20 4699752 G A 4699752 4699752 + Haplotype 13399 RCV000014337 SCV000034586 28438 PRNP NM_000311.4:c.532G>A NP_000302.1:p.Asp178Asn NM_000311.4:c.532G>A:missense variant;NM_001271561.1:c.*221G>A:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-11-26 OMIM OMIM Fatal familial insomnia 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008 2008-11-26 -20 10412791 C A 10412791 10412791 - Haplotype 5308 RCV000005632 SCV000025814 38435 MKKS NM_170784.2:c.724G>T NP_740754.1:p.Ala242Ser NM_170784.2:c.724G>T:missense variant;NR_072977.1:n.364-3988G>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-09-15 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 -20 10413265 G A 10413265 10413265 - Haplotype 5308 RCV000005632 SCV000025814 20347 MKKS NM_170784.2:c.250C>T NP_740754.1:p.His84Tyr NM_170784.2:c.250C>T:missense variant;NR_072977.1:n.364-4462C>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-09-15 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 +20 4699752 G A 4699752 4699752 + Haplotype 453225 RCV000032588 SCV000034587 28438 PRNP NM_000311.4:c.532G>A NP_000302.1:p.Asp178Asn NM_000311.4:c.532G>A:missense variant;NM_001271561.1:c.*221G>A:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-01-05 OMIM OMIM Fatal familial insomnia;FATAL FAMILIAL INSOMNIA 1347910;1357594;14732629;15623717;15806397;16227536;20038778;20301407;7630420;7783865;8105681 germline GeneReviews:NBK1229;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008 2010-01-05 +20 4699752 G A 4699752 4699752 + Haplotype 453226 RCV000014336 SCV000034585 28438 PRNP NM_000311.4:c.532G>A NP_000302.1:p.Asp178Asn NM_000311.4:c.532G>A:missense variant;NM_001271561.1:c.*221G>A:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2008-11-26 OMIM OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20298421;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004 2008-11-26 +20 10412791 C A 10412791 10412791 - Haplotype 448914 RCV000005632 SCV000025814 38435 MKKS NM_170784.2:c.724G>T NP_740754.1:p.Ala242Ser NM_170784.2:c.724G>T:missense variant;NR_072977.1:n.364-3988G>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-09-15 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 +20 10413265 G A 10413265 10413265 - Haplotype 448914 RCV000005632 SCV000025814 20347 MKKS NM_170784.2:c.250C>T NP_740754.1:p.His84Tyr NM_170784.2:c.250C>T:missense variant;NR_072977.1:n.364-4462C>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-09-15 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 20 41114115 A G 41114115 41114115 + Haplotype 16773 RCV000018261 SCV000038540 31812 TOP1 NM_003286.3:c.1598A>G NP_003277.1:p.Asp533Gly NM_003286.3:c.1598A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1991-01-11 OMIM OMIM DNA topoisomerase I, camptothecin-resistant;DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT 1849260 germline MedGen:C4016020 1991-01-11 20 44626502 G C 44626502 44626502 - Haplotype 1981 RCV000002058 SCV000022216 38420 ADA NM_000022.3:c.316C>G NP_001308979.1:p.Thr9= NM_000022.3:c.316C>G:missense variant;NM_001322050.1:c.27C>G:synonymous variant;NR_136160.1:n.467C>G:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-12-01 OMIM OMIM Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency;SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY 3304460;9361033 germline MedGen:C0392607 1997-12-01 20 44626528 T C 44626528 44626528 - Haplotype 1981 RCV000002058 SCV000022216 17020 ADA NM_000022.3:c.290A>G NP_000013.2:p.Tyr97Cys NM_000022.3:c.290A>G:missense variant;NR_136160.1:n.441A>G:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-12-01 OMIM OMIM Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency;SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY 3304460;9361033 germline MedGen:C0392607 1997-12-01 -20 63413478 G T 63413478 63413478 Haplotype 369808 RCV000408720 SCV000484644 390693 NM_172107.3:c.1735C>A NP_742105.1:p.Leu579Met NM_172107.3:c.1735C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-03-31 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 -20 63413479 C T 63413479 63413479 Haplotype 369808 RCV000408720 SCV000484644 390692 NM_172107.3:c.1734G>A NP_742105.1:p.Met578Ile NM_172107.3:c.1734G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-03-31 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 +20 63413478 G T 63413478 63413478 - Haplotype 369808 RCV000408720 SCV000484644 390693 KCNQ2 NM_172107.3:c.1735C>A NP_742105.1:p.Leu579Met NM_172107.3:c.1735C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-03-31 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 +20 63413478 GC TT 63413478 63413479 - Haplotype 369808 RCV000408720 SCV000484644 203721 KCNQ2 NM_172107.3:c.1734_1735delGCinsAA NP_742105.1:p.Met578_Leu579delinsIleMet NM_172107.3:c.1734_1735delGCinsAA:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-03-31 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 +20 63413479 C T 63413479 63413479 - Haplotype 369808 RCV000408720 SCV000484644 390692 KCNQ2 NM_172107.3:c.1734G>A NP_742105.1:p.Met578Ile NM_172107.3:c.1734G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-03-31 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 21 33579447 T G 33579447 33579447 - Haplotype 431417 RCV000496974 SCV000588191 424961 DONSON NM_017613.3:c.1466A>C NP_060083.1:p.Lys489Thr NM_017613.3:c.1466A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-08-04 OMIM OMIM MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES;MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 28191891 germline MedGen:CN373593;OMIM:611428.0001;OMIM:611428.0002;OMIM:611428.0003;OMIM:611428.0004;OMIM:611428.0005;OMIM:611428.0006;OMIM:611428.0007;OMIM:617604 2017-08-04 21 33583699 T C 33583699 33583699 - Haplotype 431417 RCV000496974 SCV000588191 424940 DONSON NM_017613.3:c.786-33A>G NM_017613.3:c.786-33A>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-08-04 OMIM OMIM MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES;MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 28191891 germline MedGen:CN373593;OMIM:611428.0001;OMIM:611428.0002;OMIM:611428.0003;OMIM:611428.0004;OMIM:611428.0005;OMIM:611428.0006;OMIM:611428.0007;OMIM:617604 2017-08-04 21 33588560 T G 33588560 33588560 - Haplotype 431417 RCV000496974 SCV000588191 424962 DONSON NM_017613.3:c.82A>C NP_060083.1:p.Ser28Arg NM_017613.3:c.82A>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-08-04 OMIM OMIM MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES;MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 28191891 germline MedGen:CN373593;OMIM:611428.0001;OMIM:611428.0002;OMIM:611428.0003;OMIM:611428.0004;OMIM:611428.0005;OMIM:611428.0006;OMIM:611428.0007;OMIM:617604 2017-08-04 @@ -521,8 +594,8 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 22 23767592 G T 23767592 23767592 - Haplotype 180222 RCV000157071 SCV000206796 178409 CHCHD10 NM_213720.2:c.43C>A NP_998885.1:p.Arg15Ser NM_213720.2:c.43C>A:missense variant;NR_125755.1:n.140-52C>A:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-01 OMIM OMIM Myopathy, isolated mitochondrial, autosomal dominant;MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (1 family) 25193783;26131548;9324076 germline GeneReviews:NBK304142;MedGen:C4015513;OMIM:616209;Orphanet:457050 2015-01-01 22 25229472 C A 25229472 25229472 + Haplotype 217348 RCV000203383 SCV000256031 214001 CRYBB2 NM_000496.2:c.343C>A NP_000487.1:p.Pro115Thr NM_000496.2:c.343C>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-09 Eye Genetics Research Group,Children's Medical Research Institute Eye Genetics Research Group,Children's Medical Research Institute Congenital cataract 26694549 de novo Human Phenotype Ontology:HP:0000519;Human Phenotype Ontology:HP:0001108;Human Phenotype Ontology:HP:0007679;Human Phenotype Ontology:HP:0007726;Human Phenotype Ontology:HP:0007788;MedGen:C1842324 2015-01-09 22 25229484 G A 25229484 25229484 + Haplotype 217348 RCV000203383 SCV000256031 214002 CRYBB2 NM_000496.2:c.355G>A NP_000487.1:p.Gly119Arg NM_000496.2:c.355G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-09 Eye Genetics Research Group,Children's Medical Research Institute Eye Genetics Research Group,Children's Medical Research Institute Congenital cataract 26694549 de novo Human Phenotype Ontology:HP:0000519;Human Phenotype Ontology:HP:0001108;Human Phenotype Ontology:HP:0007679;Human Phenotype Ontology:HP:0007726;Human Phenotype Ontology:HP:0007788;MedGen:C1842324 2015-01-09 -22 36265860 A G 36265860 36265860 + Haplotype 6080 RCV000006453 SCV000026636 21119 APOL1 NM_145343.2:c.1072A>G NP_663318.1:p.Ser358Gly NM_145343.2:c.1072A>G:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-10-25 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-10-25 -22 36265988 T G 36265988 36265988 + Haplotype 6080 RCV000006453 SCV000026636 76004 APOL1 NM_145343.2:c.1200T>G NP_663318.1:p.Ile400Met NM_145343.2:c.1200T>G:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-10-25 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-10-25 +22 36265860 A G 36265860 36265860 + Haplotype 6080 RCV000006453 SCV000026636 21119 APOL1 NM_145343.2:c.1072A>G NP_663318.1:p.Ser358Gly NM_145343.2:c.1072A>G:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-13 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-08-13 +22 36265988 T G 36265988 36265988 + Haplotype 6080 RCV000006453 SCV000026636 76004 APOL1 NM_145343.2:c.1200T>G NP_663318.1:p.Ile400Met NM_145343.2:c.1200T>G:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-13 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-08-13 22 40361619 G C 40361619 40361619 + Haplotype 208488 RCV000190501 SCV000245387 205025 ADSL NM_000026.3:c.994G>C NP_000017.1:p.Asp332His NM_000026.3:c.994G>C:missense variant;NR_134256.1:n.1053G>C:non-coding transcript variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2014-02-17 Mendelics Analise Genomica Mendelics Analise Genomica Adenylosuccinate lyase deficiency;Adenylosuccinate lyase deficiency 10090474;23519317 germline Genetic Alliance:Adenylosuccinase+Deficiency/230;MedGen:C0268126;OMIM:103050;Office of Rare Diseases:550;Orphanet:46;SNOMED CT:15285008 2014-02-17 22 40364965 G A 40364965 40364965 + Haplotype 208488 RCV000190501 SCV000245387 17501 ADSL NM_000026.3:c.1277G>A NP_000017.1:p.Arg426His NM_000026.3:c.1277G>A:missense variant;NM_001123378.1:c.1191+600G>A:intron variant;NR_134256.1:n.1367G>A:non-coding transcript variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided 2014-02-17 Mendelics Analise Genomica Mendelics Analise Genomica Adenylosuccinate lyase deficiency;Adenylosuccinate lyase deficiency 10090474;23519317 germline Genetic Alliance:Adenylosuccinase+Deficiency/230;MedGen:C0268126;OMIM:103050;Office of Rare Diseases:550;Orphanet:46;SNOMED CT:15285008 2014-02-17 22 42126611 C G 42126611 42126611 - Haplotype 16895 RCV000018391 SCV000038673 38485 CYP2D6 NM_000106.5:c.1457G>C NP_000097.3:p.Ser486Thr NM_000106.5:c.1457G>C:missense variant drug response drug response 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-05-18 OMIM OMIM Debrisoquine, ultrarapid metabolism of;DEBRISOQUINE, ULTRARAPID METABOLISM OF 7903454;7927337 germline MedGen:C1837157 2015-05-18 @@ -530,8 +603,8 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i X 13750693 TCTCAAACACTTGGG T 13750699 13750712 Haplotype 11542 RCV000012298 SCV000032532 76962 NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-07-01 OMIM OMIM Oral-facial-digital syndrome;OROFACIODIGITAL SYNDROME I 15221448;20301367 germline GeneReviews:NBK1188;Genetic Alliance:Orofaciodigital+syndromes/5428;MedGen:C1510460;OMIM:311200;Office of Rare Diseases:4121;Orphanet:2750;SNOMED CT:52868006 2004-07-01 X 22094005 T C 22094005 22094005 + Haplotype 10818 RCV000011565 SCV000031797 25857 PHEX NM_000444.5:c.755T>C NP_000435.3:p.Phe252Ser NM_000444.5:c.755T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-04-01 OMIM OMIM Familial X-linked hypophosphatemic vitamin D refractory rickets;HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 22319799;7550339;9106524 germline GeneReviews:NBK83985;Genetic Alliance:Familial+Hypophosphatemic+Rickets/2752;MedGen:C0733682;OMIM:307800;Office of Rare Diseases:6735;Orphanet:89936;SNOMED CT:82236004 1997-04-01 X 22094009 G A 22094009 22094009 + Haplotype 10818 RCV000011565 SCV000031797 38453 PHEX NM_000444.5:c.759G>A NP_000435.3:p.Met253Ile NM_000444.5:c.759G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1997-04-01 OMIM OMIM Familial X-linked hypophosphatemic vitamin D refractory rickets;HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 22319799;7550339;9106524 germline GeneReviews:NBK83985;Genetic Alliance:Familial+Hypophosphatemic+Rickets/2752;MedGen:C0733682;OMIM:307800;Office of Rare Diseases:6735;Orphanet:89936;SNOMED CT:82236004 1997-04-01 -X 101403846 G A 101403846 101403846 - Haplotype 10723 RCV000011470 SCV000031702 38452 GLA NM_000169.2:c.334C>T NP_000160.1:p.Arg112Cys NM_000169.2:c.334C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-01 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 -X 101403984 C G 101403984 101403984 - Haplotype 10723 RCV000011470 SCV000031702 25762 GLA NM_000169.2:c.196G>C NP_000160.1:p.Glu66Gln NM_000169.2:c.196G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-01 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 +X 101403846 G A 101403846 101403846 - Haplotype 10723 RCV000011470 SCV000031702 38452 GLA NM_000169.2:c.334C>T NP_000160.1:p.Arg112Cys NM_000169.2:c.334C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-01 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetic Testing Registry (GTR):GTR000558532;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 +X 101403984 C G 101403984 101403984 - Haplotype 10723 RCV000011470 SCV000031702 25762 GLA NM_000169.2:c.196G>C NP_000160.1:p.Glu66Gln NM_000169.2:c.196G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-01 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetic Testing Registry (GTR):GTR000558532;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 X 108580713 G T 108580713 108580713 + Haplotype 10464 RCV000011210 SCV000031437 35671 COL4A5 NM_033380.2:c.866G>T NP_203699.1:p.Gly289Val NM_000495.4:c.866G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1995-04-01 OMIM OMIM Alport syndrome, X-linked recessive;ALPORT SYNDROME, X-LINKED 20301386;22166944;7706490;9195222 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome/335;MedGen:C1567742;OMIM:301050;Orphanet:63;Orphanet:88917 1995-04-01 X 108686096 C T 108686096 108686096 + Haplotype 10464 RCV000011210 SCV000031437 38451 COL4A5 NM_033380.2:c.4282C>T NP_203699.1:p.Arg1428Cys NM_000495.4:c.4264C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1995-04-01 OMIM OMIM Alport syndrome, X-linked recessive;ALPORT SYNDROME, X-LINKED 20301386;22166944;7706490;9195222 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome/335;MedGen:C1567742;OMIM:301050;Orphanet:63;Orphanet:88917 1995-04-01 X 136656393 T A 136656393 136656393 + Haplotype 11158 RCV000011908 SCV000032141 26197 CD40LG NM_000074.2:c.384T>A NP_000065.1:p.Ser128Arg NM_000074.2:c.384T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1993-01-29 OMIM OMIM Immunodeficiency with hyper IgM type 1;IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 20301576;7678782 germline GeneReviews:NBK1402;Genetic Alliance:Immunodeficiency+with+hyper+IgM+type+1/3776;MedGen:C0398689;OMIM:308230;Office of Rare Diseases:73 1993-01-29 @@ -543,15 +616,7 @@ X 149483005 T A 149483005 149483005 - Haplotype 221203 RCV000204179 SCV000262516 X 154534390 G A 154534390 154534390 - Haplotype 10392 RCV000011127 SCV000031354 25430 G6PD NM_000402.4:c.682C>T NP_000393.4:p.Arg228Cys NM_001042351.2:c.592C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-08-01 OMIM OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664;4125296 germline MedGen:C4016535 1992-08-01 X 154534438 G A 154534438 154534438 - Haplotype 10392 RCV000011127 SCV000031354 38393 G6PD NM_000402.4:c.634C>T NP_000393.4:p.Arg212Trp NM_001042351.2:c.544C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-08-01 OMIM OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664;4125296 germline MedGen:C4016535 1992-08-01 X 154534440 T A 154534440 154534440 - Haplotype 10382 RCV000011109 SCV000031336 25421 G6PD NM_000402.4:c.632A>T NP_000393.4:p.Asp211Val NM_000402.4:c.632A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD SANTAMARIA;G6PD SANTAMARIA 1978554;1999409;6433630;8956035 germline OMIM:305900.0023 2017-05-24 -X 154535277 T C 154535277 154535277 - Haplotype 10361 RCV000011075 SCV000031301 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-03-31 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A- 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;Office of Rare Diseases:6520 2000-03-31 -X 154535277 T C 154535277 154535277 - Haplotype 10361 RCV000011076 SCV000031303 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD BETICA 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 -X 154535277 T C 154535277 154535277 - Haplotype 10361 RCV000011077 SCV000031304 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD CASTILLA 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 -X 154535277 T C 154535277 154535277 - Haplotype 10361 RCV000011078 SCV000031305 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD DISTRITO FEDERAL 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 -X 154535277 T C 154535277 154535277 - Haplotype 10361 RCV000011079 SCV000031306 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD TEPIC 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 +X 154535277 T C 154535277 154535277 - Haplotype 10361 RCV000011075 SCV000031301 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-03-31 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A- 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline Genetic Alliance:G6pd+a-/8448;Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;OMIM:305900.0002;OMIM:305900.0027;OMIM:305900.0028;Office of Rare Diseases:6520 2000-03-31 X 154535277 T C 154535277 154535277 - Haplotype 10382 RCV000011109 SCV000031336 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD SANTAMARIA;G6PD SANTAMARIA 1978554;1999409;6433630;8956035 germline OMIM:305900.0023 2017-05-24 X 154535336 G C 154535336 154535336 - Haplotype 10392 RCV000011127 SCV000031354 25431 G6PD NM_000402.4:c.407C>G NP_000393.4:p.Ser136Cys NM_001042351.2:c.317C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1992-08-01 OMIM OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664;4125296 germline MedGen:C4016535 1992-08-01 -X 154536002 C T 154536002 154536002 - Haplotype 10361 RCV000011075 SCV000031301 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-03-31 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A- 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;Office of Rare Diseases:6520 2000-03-31 -X 154536002 C T 154536002 154536002 - Haplotype 10361 RCV000011076 SCV000031303 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD BETICA 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 -X 154536002 C T 154536002 154536002 - Haplotype 10361 RCV000011077 SCV000031304 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD CASTILLA 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 -X 154536002 C T 154536002 154536002 - Haplotype 10361 RCV000011078 SCV000031305 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD DISTRITO FEDERAL 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 -X 154536002 C T 154536002 154536002 - Haplotype 10361 RCV000011079 SCV000031306 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2017-05-24 OMIM OMIM G6PD TEPIC 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline OMIM:305900.0002 2017-05-24 +X 154536002 C T 154536002 154536002 - Haplotype 10361 RCV000011075 SCV000031301 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2000-03-31 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A- 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline Genetic Alliance:G6pd+a-/8448;Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;OMIM:305900.0002;OMIM:305900.0027;OMIM:305900.0028;Office of Rare Diseases:6520 2000-03-31 diff --git a/output/b38/multi/clinvar_alleles.multi.b38.tsv.gz b/output/b38/multi/clinvar_alleles.multi.b38.tsv.gz index 0cb4acd..0c44ca4 100755 Binary files a/output/b38/multi/clinvar_alleles.multi.b38.tsv.gz and b/output/b38/multi/clinvar_alleles.multi.b38.tsv.gz differ diff --git a/output/b38/multi/clinvar_alleles.multi.b38.tsv.gz.tbi b/output/b38/multi/clinvar_alleles.multi.b38.tsv.gz.tbi index 305dcc9..6c36d9f 100755 Binary files a/output/b38/multi/clinvar_alleles.multi.b38.tsv.gz.tbi and b/output/b38/multi/clinvar_alleles.multi.b38.tsv.gz.tbi differ diff --git a/output/b38/multi/clinvar_alleles.multi.b38.vcf.gz b/output/b38/multi/clinvar_alleles.multi.b38.vcf.gz index 1f30706..d1accd8 100755 Binary files a/output/b38/multi/clinvar_alleles.multi.b38.vcf.gz and b/output/b38/multi/clinvar_alleles.multi.b38.vcf.gz differ diff --git a/output/b38/multi/clinvar_alleles.multi.b38.vcf.gz.tbi b/output/b38/multi/clinvar_alleles.multi.b38.vcf.gz.tbi index 9d33f6d..e019bdb 100755 Binary files a/output/b38/multi/clinvar_alleles.multi.b38.vcf.gz.tbi and b/output/b38/multi/clinvar_alleles.multi.b38.vcf.gz.tbi differ diff --git a/output/b38/multi/clinvar_alleles_example_750_rows.multi.b38.tsv b/output/b38/multi/clinvar_alleles_example_750_rows.multi.b38.tsv index a5c04b2..3e2bf73 100644 --- a/output/b38/multi/clinvar_alleles_example_750_rows.multi.b38.tsv +++ b/output/b38/multi/clinvar_alleles_example_750_rows.multi.b38.tsv @@ -1,7 +1,7 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_id symbol hgvs_c hgvs_p molecular_consequence clinical_significance clinical_significance_ordered pathogenic likely_pathogenic uncertain_significance likely_benign benign review_status review_status_ordered last_evaluated all_submitters submitters_ordered all_traits all_pmids inheritance_modes age_of_onset prevalence disease_mechanism origin xrefs dates_ordered gold_stars conflicted -1 7809893 C G 7809893 7809893 + Haplotype 224889 RCV000210468 SCV000266565 226735 PER3 NM_001289862.1:c.1243C>G NP_001276791.1:p.Pro415Ala NM_001289862.1:c.1243C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 23, 2017 OMIM OMIM Advanced sleep phase syndrome, familial, 3;ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (1 family) 26903630 germline MedGen:C4225169;OMIM:616882;Orphanet:164736 2016-10-17 1 0 +1 7809893 C G 7809893 7809893 + Haplotype 224889 RCV000210468 SCV000266565 226735 PER3 NM_001289862.1:c.1243C>G NP_001276791.1:p.Pro415Ala NM_001289862.1:c.1243C>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 23, 2017 OMIM OMIM Advanced sleep phase syndrome, familial, 3;ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (1 family) 26903630 germline MedGen:C4225169;OMIM:616882;Orphanet:164736 2016-10-17 0 0 1 7809900 A G 7809900 7809900 + Haplotype 224889 RCV000210468 SCV000266565 226734 PER3 NM_001289862.1:c.1250A>G NP_001276791.1:p.His417Arg NM_001289862.1:c.1250A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 23, 2017 OMIM OMIM Advanced sleep phase syndrome, familial, 3;ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (1 family) 26903630 germline MedGen:C4225169;OMIM:616882;Orphanet:164736 2016-10-17 0 0 -1 7984971 G A 7984971 7984971 + Haplotype 60700 RCV000007484 SCV000027684 22107 PARK7 NM_007262.4:c.487G>A NP_009193.2:p.Glu163Lys NM_007262.4:c.487G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 08, 2012 OMIM OMIM Parkinson disease 7;PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 16240358;20301402;23279440 germline GeneReviews:NBK1223;Genetic Alliance:Parkinson+disease+7/9090;MedGen:C1853445;OMIM:602533.0001;OMIM:602533.0002;OMIM:602533.0003;OMIM:602533.0004;OMIM:602533.0005;OMIM:602533.0006;OMIM:606324;Orphanet:2828 2012-10-08 0 0 +1 7984971 G A 7984971 7984971 + Haplotype 446717 RCV000007484 SCV000027684 22107 PARK7 NM_007262.4:c.487G>A NP_009193.2:p.Glu163Lys NM_007262.4:c.487G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 2005 OMIM OMIM Parkinson disease 7;PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 16240358;20301402;23279440 germline GeneReviews:NBK1223;Genetic Alliance:Parkinson+disease+7/9090;MedGen:C1853445;OMIM:602533.0001;OMIM:602533.0002;OMIM:602533.0003;OMIM:602533.0004;OMIM:602533.0005;OMIM:602533.0006;OMIM:606324;Orphanet:2828 2005-11-01 0 0 1 25301061 C G 25301061 25301061 + Haplotype 202166;208474 RCV000184007;RCV000190496 SCV000236501;SCV000245368 198596 RHD NM_016124.4:c.602C>G NP_057208.2:p.Thr201Arg NM_016124.4:c.602C>G:missense variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 0 0 1 25301552 T G 25301552 25301552 + Haplotype 202166;208474 RCV000184007;RCV000190496 SCV000236501;SCV000245368 198597 RHD NM_016124.4:c.667T>G NP_057208.2:p.Phe223Val NM_016124.4:c.667T>G:missense variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 0 0 1 25301582 G C 25301582 25301582 + Haplotype 208474 RCV000190496 SCV000245368 204995 RHD NM_016124.4:c.697G>C NP_057208.2:p.Glu233Gln NM_016124.4:c.697G>C:missense variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression;Weak RhD expression unknown MedGen:CN231363 0000-00-00 0 0 @@ -9,76 +9,84 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 25301629 C T 25301629 25301629 + Haplotype 202166;208474 RCV000184007;RCV000190496 SCV000236501;SCV000245368 198598 RHD NM_016124.4:c.744C>T NP_057208.2:p.Ser248= NM_016124.4:c.744C>T:synonymous variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 0 0 1 25306613 G A 25306613 25306613 + Haplotype 202166 RCV000184007 SCV000236501 198599 RHD NM_016124.4:c.957G>A NP_057208.2:p.Val319= NM_001127691.2:c.939+3154G>A:intron variant;NM_016124.4:c.957G>A:synonymous variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 0 0 1 25306681 T C 25306681 25306681 + Haplotype 202166 RCV000184007 SCV000236501 198600 RHD NM_001127691.2:c.939+3222T>C NP_057208.2:p.Ile342Thr NM_001127691.2:c.939+3222T>C:intron variant;NM_016124.4:c.1025T>C:missense variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 0 0 -1 25306719 G A 25306719 25306719 + Haplotype 202166 RCV000184007 SCV000236501 198601 RHD NM_001127691.2:c.939+3260G>A NP_057208.2:p.Gly355Ser NM_001127691.2:c.939+3260G>A:intron variant;NM_016124.4:c.1063G>A:missense variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 0 0 +1 25306719 G A 25306719 25306719 + Haplotype 202166 RCV000184007 SCV000236501 198601 RHD NM_001127691.2:c.939+3260G>A NP_057208.2:p.Gly355Ser NM_001127691.2:c.939+3260G>A:intron variant;NM_016124.4:c.1063G>A:missense variant risk factor not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided Sep 30, 2014 Colsan Colsan Weak RhD expression;Weak RhD expression 24579654 unknown MedGen:CN231363 0000-00-00 0 0 1 25375385 C T 25375385 25375385 + Haplotype 208474 RCV000190496 SCV000245368 204997 RHD - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Colsan Colsan Weak RhD expression;Weak RhD expression unknown MedGen:CN231363 0000-00-00 0 0 1 25420739 G C 25420739 25420739 - Haplotype 17709 RCV000019283 SCV000039571 32748 RHCE NM_020485.5:c.48G= NP_065231.3:p.Trp16= NM_020485.5:c.48G=:synonymous variant - benign 0 0 0 0 1 no assertion for the individual variant no assertion criteria provided Sep 01, 1993 OMIM OMIM RH C/c POLYMORPHISM;RH C/c POLYMORPHISM 8220426 germline OMIM:111700.0002 1993-09-01 0 0 -1 53210729 T G 53210729 53210729 + Haplotype 30118 RCV000023026 SCV000044317 39073 CPT2 NM_000098.2:c.1055T>G NP_000089.1:p.Phe352Cys NM_000098.2:c.1055T>G:missense variant Benign/Likely benign risk factor 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Feb 07, 2017 OMIM OMIM Encephalopathy, acute, infection-induced, 4, susceptibility to;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 15811315;18306170;20934285;21697855 germline Genetic Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308;MedGen:C3280160;OMIM:614212;Orphanet:263524 2011-08-01 2 0 +1 53210729 T G 53210729 53210729 + Haplotype 30118 RCV000023026 SCV000044317 39073 CPT2 NM_000098.2:c.1055T>G NP_000089.1:p.Phe352Cys NM_000098.2:c.1055T>G:missense variant Benign/Likely benign risk factor 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Aug 07, 2017 OMIM OMIM Encephalopathy, acute, infection-induced, 4, susceptibility to;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 15811315;18306170;20934285;21697855 germline Genetic Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308;MedGen:C3280160;OMIM:614212;Orphanet:263524 2011-08-01 2 0 1 53210776 G A 53210776 53210776 + Haplotype 30118 RCV000023026 SCV000044317 39074 CPT2 NM_000098.2:c.1102G>A NP_000089.1:p.Val368Ile NM_000098.2:c.1102G>A:missense variant Benign risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Encephalopathy, acute, infection-induced, 4, susceptibility to;ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4 15811315;18306170;20934285;21697855 germline Genetic Alliance:Encephalopathy%2C+acute%2C+infection-induced%2C+4%2C+susceptibility+to/8308;MedGen:C3280160;OMIM:614212;Orphanet:263524 2011-08-01 0 0 -1 53210911 CAG C 53210913 53210914 + Haplotype 60702 RCV000202553 SCV000153666 98339 CPT2 NM_000098.2:c.1239_1240delGA NP_000089.1:p.Lys414Thrfs NM_000098.2:c.1239_1240delGA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 30, 2017 GeneReviews GeneReviews Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency 10090476;20301431;25173338 germline GeneReviews:NBK1253;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 2014-05-15 2 0 -1 53211016 T C 53211016 53211016 + Haplotype 60702 RCV000202553 SCV000153666 23999 CPT2 NM_000098.2:c.1342T>C NP_000089.1:p.Phe448Leu NM_000098.2:c.1342T>C:missense variant Conflicting interpretations of pathogenicity, other pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 08, 2015 GeneReviews GeneReviews Carnitine palmitoyltransferase II deficiency;Carnitine palmitoyltransferase II deficiency 10090476;20301431;25173338 germline GeneReviews:NBK1253;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 2014-05-15 0 1 +1 53210911 CAG C 53210913 53210914 + Haplotype 60702 RCV000009520;RCV000202553 SCV000029738;SCV000153666 98339 CPT2 NM_000098.2:c.1239_1240delGA NP_000089.1:p.Lys414Thrfs NM_000098.2:c.1239_1240delGA:frameshift variant Pathogenic pathogenic 2 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 30, 2017 OMIM;GeneReviews OMIM;GeneReviews Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED;Carnitine palmitoyltransferase II deficiency 10090476;11477613;12410208;20301431;25173338 germline GeneReviews:NBK1253;MedGen:C1833508;OMIM:255110;Orphanet:157;Orphanet:228302;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 2002-11-01;2014-05-15 2 0 +1 53211016 T C 53211016 53211016 + Haplotype 60702 RCV000009520;RCV000202553 SCV000029738;SCV000153666 23999 CPT2 NM_000098.2:c.1342T>C NP_000089.1:p.Phe448Leu NM_000098.2:c.1342T>C:missense variant Conflicting interpretations of pathogenicity, other pathogenic 2 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Nov 18, 2016 OMIM;GeneReviews OMIM;GeneReviews Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced;CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED;Carnitine palmitoyltransferase II deficiency 10090476;11477613;12410208;20301431;25173338 germline GeneReviews:NBK1253;MedGen:C1833508;OMIM:255110;Orphanet:157;Orphanet:228302;MedGen:C0342790;Office of Rare Diseases:1121;SNOMED CT:238002005 2002-11-01;2014-05-15 1 1 1 54865405 C G 54865405 54865405 - Haplotype 4368 RCV000004616 SCV000024790 38433 DHCR24 NM_014762.3:c.918G>C NP_055577.1:p.Lys306Asn NM_014762.3:c.918G>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 01, 2001 OMIM OMIM Desmosterolosis;DESMOSTEROLOSIS 11519011 germline GeneTests:238860;Genetic Alliance:Desmosterolosis/2221;MedGen:C1865596;OMIM:602398;Office of Rare Diseases:10283;Orphanet:35107 2001-10-01 0 0 1 54865442 T G 54865442 54865442 - Haplotype 4368 RCV000004616 SCV000024790 19407 DHCR24 NM_014762.3:c.881A>C NP_055577.1:p.Asn294Thr NM_014762.3:c.881A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 01, 2001 OMIM OMIM Desmosterolosis;DESMOSTEROLOSIS 11519011 germline GeneTests:238860;Genetic Alliance:Desmosterolosis/2221;MedGen:C1865596;OMIM:602398;Office of Rare Diseases:10283;Orphanet:35107 2001-10-01 0 0 1 94001992 C G 94001992 94001992 - Haplotype 236131 RCV000408516 SCV000281924 22923 ABCA4 NM_000350.2:c.6148G>C NP_000341.2:p.Val2050Leu NM_000350.2:c.6148G>C:missense variant Conflicting interpretations of pathogenicity likely pathogenic 0 1 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Feb 17, 2017 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 1 1 -1 94005499 C T 94005499 94005499 - Haplotype 236068 RCV000408532 SCV000281790 105317 ABCA4 NM_000350.2:c.6089G>A NP_000341.2:p.Arg2030Gln NM_000350.2:c.6089G>A:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jun 02, 2017 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 0 0 +1 94005499 C T 94005499 94005499 - Haplotype 236068 RCV000408532 SCV000281790 105317 ABCA4 NM_000350.2:c.6089G>A NP_000341.2:p.Arg2030Gln NM_000350.2:c.6089G>A:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 02, 2017 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 2 0 1 94014622 G T 94014622 94014622 - Haplotype 236131 RCV000408516 SCV000281924 105260 ABCA4 NM_000350.2:c.5381C>A NP_000341.2:p.Ala1794Asp NM_000350.2:c.5381C>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Jan 01, 2016 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 0 0 1 94019625 A C 94019625 94019625 - Haplotype 236092 RCV000408474 SCV000281849 237656 ABCA4 NM_000350.2:c.5153T>G NP_000341.2:p.Val1718Gly NM_000350.2:c.5153T>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jan 01, 2016 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 0 0 -1 94027417 G A 94027417 94027417 - Haplotype 225694 RCV000211040 SCV000267675 227509 ABCA4 NM_000350.2:c.4539+2028C>T NM_000350.2:c.4539+2028C>T:intron variant Uncertain significance likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Jan 01, 2016 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Stargardt disease 1 26527198;28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 0000-00-00 0 0 +1 94027417 G A 94027417 94027417 - Haplotype 225694 RCV000211040 SCV000267675 227509 ABCA4 NM_000350.2:c.4539+2028C>T NM_000350.2:c.4539+2028C>T:intron variant Uncertain significance likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Jan 01, 2016 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Stargardt disease 1 26527198;28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 0000-00-00 1 0 1 94042800 T A 94042800 94042800 - Haplotype 236091 RCV000408579 SCV000281848 237681 ABCA4 NM_000350.2:c.3289A>T NP_000341.2:p.Arg1097Ter NM_000350.2:c.3289A>T:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jan 01, 2016 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 0 0 1 94043413 G A 94043413 94043413 - Haplotype 7901 RCV000008358;RCV000008359 SCV000028566;SCV000028567 22933 ABCA4 NM_000350.2:c.3113C>T NP_000341.2:p.Ala1038Val NM_000350.2:c.3113C>T:missense variant Pathogenic/Likely pathogenic pathogenic 2 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 21, 2017 OMIM OMIM Stargardt disease 1;STARGARDT DISEASE 1;Cone-rod dystrophy 3 10958761;10958763;12796258;16103129;28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827;Genetic Alliance:Cone-Rod+Dystrophy+3/1769;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1858806;OMIM:604116;Office of Rare Diseases:10653;Orphanet:1872 2005-10-01 2 0 -1 94051698 C G 94051698 94051698 - Haplotype 236091;236092 RCV000408579;RCV000408474 SCV000281848;SCV000281849 22918 ABCA4 NM_000350.2:c.2588G>C NP_000341.2:p.Gly863Ala NM_000350.2:c.2588G>C:missense variant Conflicting interpretations of pathogenicity pathogenic 2 0 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Mar 24, 2017 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 1 1 +1 94051698 C G 94051698 94051698 - Haplotype 236091;236092 RCV000408579;RCV000408474 SCV000281848;SCV000281849 22918 ABCA4 NM_000350.2:c.2588G>C NP_000341.2:p.Gly863Ala NM_000350.2:c.2588G>C:missense variant Conflicting interpretations of pathogenicity pathogenic 2 0 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Oct 19, 2017 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 1 1 1 94063250 A G 94063250 94063250 - Haplotype 7901 RCV000008358;RCV000008359 SCV000028566;SCV000028567 22940 ABCA4 NM_000350.2:c.1622T>C NP_000341.2:p.Leu541Pro NM_000350.2:c.1622T>C:missense variant Conflicting interpretations of pathogenicity pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 12, 2017 OMIM OMIM Stargardt disease 1;STARGARDT DISEASE 1;Cone-rod dystrophy 3 10958761;10958763;12796258;16103129;28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827;Genetic Alliance:Cone-Rod+Dystrophy+3/1769;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1858806;OMIM:604116;Office of Rare Diseases:10653;Orphanet:1872 2005-10-01 0 1 1 94111370 G A 94111370 94111370 - Haplotype 225694 RCV000211040 SCV000267675 227508 ABCA4 NM_000350.2:c.302+68C>T NM_000350.2:c.302+68C>T:intron variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter - Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Stargardt disease 1 26527198;28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 0000-00-00 0 0 1 94121045 T C 94121045 94121045 - Haplotype 236068 RCV000408532 SCV000281790 104999 ABCA4 NM_000350.2:c.1A>G NP_000341.2:p.Met1Val NM_000350.2:c.1A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 23, 2016 Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg Stargardt disease 1 28118664 germline Genetic Alliance:Stargardt+disease+1/9354;Genetics Home Reference:stargardt-macular-degeneration;MeSH:C535804;MedGen:C1855465;OMIM:248200;OMIM:601691.0026;Orphanet:827 2016-01-01 2 0 -1 115726998 T C 115726998 115726998 - Haplotype 228471 RCV000217394 SCV000271536 44436 CASQ2 NM_001232.3:c.731A>G NP_001223.2:p.His244Arg NM_001232.3:c.731A>G:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Jan 18, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-02-05 1 1 -1 115726999 G A 115726999 115726999 - Haplotype 228471 RCV000217394 SCV000271536 228262 CASQ2 NM_001232.3:c.730C>T NP_001223.2:p.His244Tyr NM_001232.3:c.730C>T:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Aug 10, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-02-05 1 1 -1 155235203 C G 155235203 155235203 - Haplotype 4297 RCV000004533;RCV000004534;RCV000004535;RCV000004536 SCV000024707;SCV000024708;SCV000024709;SCV000024710 38385 GBA NM_001005741.2:c.1497G>C NP_001005741.1:p.Val499= NM_001005741.2:c.1497G>C:synonymous variant Benign/Likely benign pathogenic 4 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Apr 04, 2016 OMIM OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 10685993;1437405;1594045;18197057;1899336;1972019;19888064;20301446;7857677;8118460;8929950 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:77261;SNOMED CT:5963005;Genetic Alliance:Gaucher+Disease+Perinatal+Lethal/3001;MedGen:C1842704;OMIM:608013 2000-03-01 2 0 +1 115726998 T C 115726998 115726998 - Haplotype 228471 RCV000217394 SCV000271536 44436 CASQ2 NM_001232.3:c.731A>G NP_001223.2:p.His244Arg NM_001232.3:c.731A>G:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Jul 28, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-02-05 1 1 +1 115726999 G A 115726999 115726999 - Haplotype 228471 RCV000217394 SCV000271536 228262 CASQ2 NM_001232.3:c.730C>T NP_001223.2:p.His244Tyr NM_001232.3:c.730C>T:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Jul 21, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-02-05 0 1 +1 155235203 C G 155235203 155235203 - Haplotype 4297 RCV000004533;RCV000004534;RCV000004535;RCV000004536 SCV000024707;SCV000024708;SCV000024709;SCV000024710 38385 GBA NM_001005741.2:c.1497G>C NP_001005741.1:p.Val499= NM_001005741.2:c.1497G>C:synonymous variant Benign/Likely benign pathogenic 4 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 21, 2017 OMIM OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 10685993;1437405;1594045;18197057;1899336;1972019;19888064;20301446;7857677;8118460;8929950 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:77261;SNOMED CT:5963005;Genetic Alliance:Gaucher+Disease+Perinatal+Lethal/3001;MedGen:C1842704;OMIM:608013 2000-03-01 2 0 1 155235217 C G 155235217 155235217 - Haplotype 4297 RCV000004533;RCV000004534;RCV000004535;RCV000004536 SCV000024707;SCV000024708;SCV000024709;SCV000024710 38384 GBA NM_001005741.2:c.1483G>C NP_001005741.1:p.Ala495Pro NM_001005741.2:c.1483G>C:missense variant Benign pathogenic 4 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jul 24, 2012 OMIM OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 10685993;1437405;1594045;18197057;1899336;1972019;19888064;20301446;7857677;8118460;8929950 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:77261;SNOMED CT:5963005;Genetic Alliance:Gaucher+Disease+Perinatal+Lethal/3001;MedGen:C1842704;OMIM:608013 2000-03-01 1 0 -1 155235252 A G 155235252 155235252 - Haplotype 4297 RCV000004533;RCV000004534;RCV000004535;RCV000004536 SCV000024707;SCV000024708;SCV000024709;SCV000024710 19327 GBA NM_001005741.2:c.1448T>C NP_001005741.1:p.Leu483Pro NM_001005741.2:c.1448T>C:missense variant Pathogenic, risk factor pathogenic 4 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Sep 23, 2016 OMIM OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 10685993;1437405;1594045;18197057;1899336;1972019;19888064;20301446;7857677;8118460;8929950 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:77261;SNOMED CT:5963005;Genetic Alliance:Gaucher+Disease+Perinatal+Lethal/3001;MedGen:C1842704;OMIM:608013 2000-03-01 2 0 -1 155235727 C G 155235727 155235727 - Haplotype 4334 RCV000004580;RCV000004581 SCV000024754;SCV000024755 19332 GBA NM_001005741.2:c.1342G>C NP_001005741.1:p.Asp448His NM_001005741.2:c.1342G>C:missense variant Pathogenic pathogenic 2 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Aug 29, 2016 OMIM OMIM Acute neuronopathic Gaucher's disease;GAUCHER DISEASE, TYPE II;Subacute neuronopathic Gaucher's disease 15690354;20301446 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:355;Orphanet:77261;SNOMED CT:5963005 2005-04-01 2 0 +1 155235252 A G 155235252 155235252 - Haplotype 4297 RCV000004533;RCV000004534;RCV000004535;RCV000004536 SCV000024707;SCV000024708;SCV000024709;SCV000024710 19327 GBA NM_001005741.2:c.1448T>C NP_001005741.1:p.Leu483Pro NM_001005741.2:c.1448T>C:missense variant Pathogenic, risk factor pathogenic 4 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 23, 2016 OMIM OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I;Acute neuronopathic Gaucher's disease;Subacute neuronopathic Gaucher's disease;Gaucher disease, perinatal lethal 10685993;1437405;1594045;18197057;1899336;1972019;19888064;20301446;7857677;8118460;8929950 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:77261;SNOMED CT:5963005;Genetic Alliance:Gaucher+Disease+Perinatal+Lethal/3001;MedGen:C1842704;OMIM:608013 2000-03-01 0 0 +1 155235727 C G 155235727 155235727 - Haplotype 4334 RCV000004580;RCV000004581 SCV000024754;SCV000024755 19332 GBA NM_001005741.2:c.1342G>C NP_001005741.1:p.Asp448His NM_001005741.2:c.1342G>C:missense variant Pathogenic/Likely pathogenic pathogenic 2 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Aug 29, 2016 OMIM OMIM Acute neuronopathic Gaucher's disease;GAUCHER DISEASE, TYPE II;Subacute neuronopathic Gaucher's disease 15690354;20301446 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:355;Orphanet:77261;SNOMED CT:5963005 2005-04-01 2 0 1 155236376 C T 155236376 155236376 - Haplotype 4299 RCV000004538 SCV000024712 38432 GBA NM_001005741.2:c.1093G>A NP_001005741.1:p.Glu365Lys NM_001005741.2:c.1093G>A:missense variant Conflicting interpretations of pathogenicity, risk factor pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 28, 2017 OMIM OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I 10079102;11903352;15146461;18197057;1864608;19888064;20301446 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009 2004-06-01 0 1 1 155237458 A C 155237458 155237458 - Haplotype 4334 RCV000004580;RCV000004581 SCV000024754;SCV000024755 19373 GBA NM_001005741.2:c.882T>G NP_001005741.1:p.His294Gln NM_001005741.2:c.882T>G:missense variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 01, 2005 OMIM OMIM Acute neuronopathic Gaucher's disease;GAUCHER DISEASE, TYPE II;Subacute neuronopathic Gaucher's disease 15690354;20301446 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+2/3003;MedGen:C0268250;OMIM:230900;OMIM:606463.0001;OMIM:606463.0002;OMIM:606463.0006;OMIM:606463.0008;OMIM:606463.0009;OMIM:606463.0013;OMIM:606463.0015;OMIM:606463.0017;OMIM:606463.0030;OMIM:606463.0031;OMIM:606463.0047;SNOMED CT:12246008;Genetic Alliance:Gaucher+Disease+Type+3/3004;MedGen:C0268251;OMIM:231000;OMIM:606463.0005;OMIM:606463.0007;OMIM:606463.0026;OMIM:606463.0035;OMIM:606463.0040;OMIM:606463.0043;Orphanet:355;Orphanet:77261;SNOMED CT:5963005 2005-04-01 0 0 1 155238570 C G 155238570 155238570 - Haplotype 4299 RCV000004538 SCV000024712 19338 GBA NM_001005741.2:c.535G>C NP_001005741.1:p.Asp179His NM_001005741.2:c.535G>C:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Feb 28, 2017 OMIM OMIM Gaucher's disease, type 1;GAUCHER DISEASE, TYPE I 10079102;11903352;15146461;18197057;1864608;19888064;20301446 germline GeneReviews:NBK1269;Genetic Alliance:Gaucher+Disease+Type+1/3002;MedGen:C1961835;OMIM:230800;Orphanet:355;Orphanet:77259;SNOMED CT:62201009 2004-06-01 1 0 1 156860959 C T 156860959 156860959 + Haplotype 12304 RCV000030667 SCV000033344 27343 NTRK1 NM_002529.3:c.25C>T NP_002520.2:p.Gln9Ter NM_001007792.1:c.123-3395C>T:intron variant;NM_001012331.1:c.25C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 05, 2008 OMIM OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344;11159935;20301726 germline GeneReviews:NBK1769;Genetic Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832;MedGen:C0020074;OMIM:256800;Office of Rare Diseases:3006;Orphanet:642;SNOMED CT:62985007 2001-02-01 0 0 -1 156879126 C T 156879126 156879126 + Haplotype 12304 RCV000030667 SCV000033344 38397 NTRK1 NM_002529.3:c.1810C>T NP_002520.2:p.His604Tyr NM_001007792.1:c.1702C>T:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344;11159935;20301726 germline GeneReviews:NBK1769;Genetic Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832;MedGen:C0020074;OMIM:256800;Office of Rare Diseases:3006;Orphanet:642;SNOMED CT:62985007 2001-02-01 0 1 -1 156879154 G T 156879154 156879154 + Haplotype 12304 RCV000030667 SCV000033344 27347 NTRK1 NM_002529.3:c.1838G>T NP_002520.2:p.Gly613Val NM_001007792.1:c.1730G>T:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jun 14, 2016 OMIM OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344;11159935;20301726 germline GeneReviews:NBK1769;Genetic Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832;MedGen:C0020074;OMIM:256800;Office of Rare Diseases:3006;Orphanet:642;SNOMED CT:62985007 2001-02-01 1 1 +1 156879126 C T 156879126 156879126 + Haplotype 12304 RCV000030667 SCV000033344 38397 NTRK1 NM_002529.3:c.1810C>T NP_002520.2:p.His604Tyr NM_001007792.1:c.1702C>T:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 08, 2017 OMIM OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344;11159935;20301726 germline GeneReviews:NBK1769;Genetic Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832;MedGen:C0020074;OMIM:256800;Office of Rare Diseases:3006;Orphanet:642;SNOMED CT:62985007 2001-02-01 0 1 +1 156879154 G T 156879154 156879154 + Haplotype 12304 RCV000030667 SCV000033344 27347 NTRK1 NM_002529.3:c.1838G>T NP_002520.2:p.Gly613Val NM_001007792.1:c.1730G>T:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Aug 08, 2017 OMIM OMIM Hereditary insensitivity to pain with anhidrosis;INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS 10330344;11159935;20301726 germline GeneReviews:NBK1769;Genetic Alliance:Insensitivity+to+pain%2C+congenital%2C+with+anhidrosis/3832;MedGen:C0020074;OMIM:256800;Office of Rare Diseases:3006;Orphanet:642;SNOMED CT:62985007 2001-02-01 1 1 1 161306427 G C 161306427 161306427 - Haplotype 14182 RCV000015246 SCV000035505 38403 MPZ NM_000530.7:c.486C>G NP_000521.2:p.Ile162Met NM_000530.7:c.486C>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 01, 2002 OMIM OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375;20301462;9222756 germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 2002-02-01 0 0 1 161306774 C T 161306774 161306774 - Haplotype 14180 RCV000015243 SCV000035502 38402 MPZ NM_000530.7:c.382G>A NP_000521.2:p.Asp128Asn NM_000530.7:c.382G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1997 OMIM OMIM Dejerine-sottas syndrome, sporadic;DEJERINE-SOTTAS SYNDROME, SPORADIC 9222756 germline MedGen:C4016265 1997-01-01 0 0 1 161306810 T G 161306810 161306810 - Haplotype 14180 RCV000015243 SCV000035502 38401 MPZ NM_000530.7:c.346A>C NP_000521.2:p.Asn116His NM_000530.7:c.346A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1997 OMIM OMIM Dejerine-sottas syndrome, sporadic;DEJERINE-SOTTAS SYNDROME, SPORADIC 9222756 germline MedGen:C4016265 1997-01-01 0 0 -1 161306815 A G 161306815 161306815 - Haplotype 14180 RCV000015243 SCV000035502 29219 MPZ NM_000530.7:c.341T>C NP_000521.2:p.Ile114Thr NM_000530.7:c.341T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1997 OMIM OMIM Dejerine-sottas syndrome, sporadic;DEJERINE-SOTTAS SYNDROME, SPORADIC 9222756 germline MedGen:C4016265 1997-01-01 0 0 +1 161306815 A G 161306815 161306815 - Haplotype 14180 RCV000015243 SCV000035502 29219 MPZ NM_000530.7:c.341T>C NP_000521.2:p.Ile114Thr NM_000530.7:c.341T>C:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 25, 2017 OMIM OMIM Dejerine-sottas syndrome, sporadic;DEJERINE-SOTTAS SYNDROME, SPORADIC 9222756 germline MedGen:C4016265 1997-01-01 0 0 1 161306819 C A 161306819 161306819 - Haplotype 208147 RCV000194363 SCV000243903 49442 MPZ NM_000530.7:c.337G>T NP_000521.2:p.Val113Phe NM_000530.7:c.337G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 26, 2015 GeneReviews GeneReviews Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type IB 20301384 germline GeneReviews:NBK1205;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+1B/1285;MedGen:C0270912;OMIM:118200;Office of Rare Diseases:1246;Orphanet:101082;SNOMED CT:42986003 2015-03-26 0 0 -1 161306882 C T 161306882 161306882 - Haplotype 14182 RCV000015246 SCV000035505 38404 MPZ NM_000530.7:c.274G>A NP_000521.2:p.Val92Met NM_000530.7:c.274G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 01, 2002 OMIM OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375;20301462;9222756 germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 2002-02-01 0 0 -1 161306890 A T 161306890 161306890 - Haplotype 14182 RCV000015246 SCV000035505 29221 MPZ NM_000530.7:c.266T>A NP_000521.2:p.Ile89Asn NM_000530.7:c.266T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 01, 2002 OMIM OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375;20301462;9222756 germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 2002-02-01 0 0 +1 161306882 C T 161306882 161306882 - Haplotype 14182 RCV000015246 SCV000035505 38404 MPZ NM_000530.7:c.274G>A NP_000521.2:p.Val92Met NM_000530.7:c.274G>A:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 21, 2017 OMIM OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375;20301462;9222756 germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 2002-02-01 0 0 +1 161306890 A T 161306890 161306890 - Haplotype 14182 RCV000015246 SCV000035505 29221 MPZ NM_000530.7:c.266T>A NP_000521.2:p.Ile89Asn NM_000530.7:c.266T>A:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 21, 2017 OMIM OMIM Charcot-Marie-Tooth disease type 2I;CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I 11835375;20301462;9222756 germline GeneReviews:NBK1285;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+2I/1300;MedGen:C1843251;OMIM:607677;Office of Rare Diseases:9197;Orphanet:99942 2002-02-01 0 0 1 161306915 G A 161306915 161306915 - Haplotype 208147 RCV000194363 SCV000243903 49438 MPZ NM_000530.7:c.241C>T NP_000521.2:p.His81Tyr NM_000530.7:c.241C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 26, 2015 GeneReviews GeneReviews Charcot-Marie-Tooth disease, demyelinating, type 1b;Charcot-Marie-Tooth disease, type IB 20301384 germline GeneReviews:NBK1205;Genetic Alliance:Charcot-Marie-Tooth+Disease+Type+1B/1285;MedGen:C0270912;OMIM:118200;Office of Rare Diseases:1246;Orphanet:101082;SNOMED CT:42986003 2015-03-26 0 0 1 161629903 T C 161629903 161629903 - Haplotype 36924 RCV000030607 SCV000053285 45587 FCGR3B NM_000570.4:c.194A>G NP_000561.3:p.Asn65Ser NM_000570.4:c.194A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 1989 OMIM OMIM Neutrophil-specific antigens na1/na2;NEUTROPHIL-SPECIFIC ANTIGENS NA1/NA2 2478590 germline MedGen:C4017227 1989-11-01 0 0 1 171107825 G A 171107825 171107825 + Haplotype 16318;217371 RCV000017711;RCV000201276;RCV000201278 SCV000037988;SCV000256060;SCV000256061 38476 FMO3 NM_006894.5:c.472G>A NP_008825.4:p.Glu158Lys NM_001002294.2:c.472G>A:missense variant Benign pathogenic;likely pathogenic 2 1 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 14, 2016 OMIM;GeneReviews OMIM;GeneReviews Trimethylaminuria, mild;TRIMETHYLAMINURIA, MILD;Trimethylaminuria 10485731;10896299;11809920;20301282;22126753;19321370 loss of function germline MedGen:C4016101;GeneReviews:NBK1103;Genetic Alliance:Trimethylaminuria/7223;Genetic Testing Registry (GTR):GTR000505067;Genetic Testing Registry (GTR):GTR000518973;Genetic Testing Registry (GTR):GTR000520120;MedGen:C0342739;OMIM:602079;Office of Rare Diseases:6447;SNOMED CT:237959005 1999-09-04;2015-10-01 2 0 1 171108154 T C 171108154 171108154 + Haplotype 217371 RCV000201278 SCV000256061 214011 FMO3 NM_006894.5:c.560T>C NP_008825.4:p.Val187Ala NM_001002294.2:c.560T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 01, 2015 GeneReviews GeneReviews Trimethylaminuria 19321370;20301282;22126753 loss of function germline GeneReviews:NBK1103;Genetic Alliance:Trimethylaminuria/7223;Genetic Testing Registry (GTR):GTR000505067;Genetic Testing Registry (GTR):GTR000518973;Genetic Testing Registry (GTR):GTR000520120;MedGen:C0342739;OMIM:602079;Office of Rare Diseases:6447;SNOMED CT:237959005 2015-10-01 0 0 -1 171114102 A G 171114102 171114102 + Haplotype 16318 RCV000017711;RCV000201276 SCV000037988;SCV000256060 31357 FMO3 NM_006894.5:c.923A>G NP_008825.4:p.Glu308Gly NM_001002294.2:c.923A>G:missense variant Benign pathogenic;likely pathogenic 1 1 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 14, 2016 OMIM;GeneReviews OMIM;GeneReviews Trimethylaminuria, mild;TRIMETHYLAMINURIA, MILD;Trimethylaminuria 10485731;10896299;11809920;20301282;22126753 loss of function germline MedGen:C4016101;GeneReviews:NBK1103;Genetic Alliance:Trimethylaminuria/7223;Genetic Testing Registry (GTR):GTR000505067;Genetic Testing Registry (GTR):GTR000518973;Genetic Testing Registry (GTR):GTR000520120;MedGen:C0342739;OMIM:602079;Office of Rare Diseases:6447;SNOMED CT:237959005 1999-09-04;2015-10-01 2 0 +1 171114102 A G 171114102 171114102 + Haplotype 16318 RCV000017711;RCV000201276 SCV000037988;SCV000256060 31357 FMO3 NM_006894.5:c.923A>G NP_008825.4:p.Glu308Gly NM_001002294.2:c.923A>G:missense variant Benign pathogenic;likely pathogenic 1 1 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM;GeneReviews OMIM;GeneReviews Trimethylaminuria, mild;TRIMETHYLAMINURIA, MILD;Trimethylaminuria 10485731;10896299;11809920;20301282;22126753 loss of function germline MedGen:C4016101;GeneReviews:NBK1103;Genetic Alliance:Trimethylaminuria/7223;Genetic Testing Registry (GTR):GTR000505067;Genetic Testing Registry (GTR):GTR000518973;Genetic Testing Registry (GTR):GTR000520120;MedGen:C0342739;OMIM:602079;Office of Rare Diseases:6447;SNOMED CT:237959005 1999-09-04;2015-10-01 0 0 1 179575915 C A 179575915 179575915 - Haplotype 225143 RCV000210779 SCV000266491 227036 NPHS2 NM_014625.3:c.-51G>T NM_014625.3:c.-51G>T:5 prime UTR variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 Human Genetics Disease in Children – Taif University,Taif University Human Genetics Disease in Children – Taif University,Taif University Nephrotic syndrome, idiopathic, steroid-resistant unknown Genetic Alliance:Nephrotic+syndrome%2C+idiopathic%2C+steroid-resistant/5149;MedGen:C1868672;OMIM:600995;Office of Rare Diseases:3946;Orphanet:656 2016-01-01 0 1 1 179575916 G C 179575916 179575916 - Haplotype 225143 RCV000210779 SCV000266491 227037 NPHS2 NM_014625.3:c.-52C>G NM_014625.3:c.-52C>G:5 prime UTR variant Likely benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 Human Genetics Disease in Children – Taif University,Taif University Human Genetics Disease in Children – Taif University,Taif University Nephrotic syndrome, idiopathic, steroid-resistant unknown Genetic Alliance:Nephrotic+syndrome%2C+idiopathic%2C+steroid-resistant/5149;MedGen:C1868672;OMIM:600995;Office of Rare Diseases:3946;Orphanet:656 2016-01-01 0 0 1 183574507 T C 183574507 183574507 - Haplotype 2240 RCV000002328 SCV000022486 38423 NCF2 NM_000433.3:c.481A>G NP_000424.2:p.Lys161Glu NM_000433.3:c.481A>G:missense variant;NM_001190789.1:c.366+3092A>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 24, 1997 OMIM OMIM Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II 22876374;9070911 germline GeneReviews:NBK99496;Genetic Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977;MedGen:C1856245;OMIM:233710;Orphanet:379 1997-02-24 0 0 1 183574509 T A 183574509 183574509 - Haplotype 2240 RCV000002328 SCV000022486 17279 NCF2 NM_000433.3:c.479A>T NP_000424.2:p.Asp160Val NM_000433.3:c.479A>T:missense variant;NM_001190789.1:c.366+3090A>T:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 24, 1997 OMIM OMIM Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2;GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II 22876374;9070911 germline GeneReviews:NBK99496;Genetic Alliance:Chronic+granulomatous+disease%2C+autosomal+recessive+cytochrome+b-positive%2C+type+II/7977;MedGen:C1856245;OMIM:233710;Orphanet:379 1997-02-24 0 0 +1 207454348 T C 207454348 207454348 + Haplotype 17065 RCV000018594 SCV000038877 472254 CR2 NM_001006658.2:c.-71T>C - risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 06, 2007 OMIM OMIM Systemic lupus erythematosus 9;SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 17360460 germline Genetics Home Reference:systemic-lupus-erythematosus;MedGen:C1970455;OMIM:120650.0001;OMIM:610927 2007-03-06 0 0 +1 207472977 G A 207472977 207472977 + Haplotype 17065 RCV000018594 SCV000038877 389365 CR2 NM_001006658.2:c.1776G>A NP_001006659.1:p.Leu592= NM_001006658.2:c.1776G>A:synonymous variant Benign risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 28, 2016 OMIM OMIM Systemic lupus erythematosus 9;SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 17360460 germline Genetics Home Reference:systemic-lupus-erythematosus;MedGen:C1970455;OMIM:120650.0001;OMIM:610927 2007-03-06 0 0 +1 207473117 G A 207473117 207473117 + Haplotype 17065 RCV000018594 SCV000038877 389363 CR2 NM_001006658.2:c.1916G>A NP_001006659.1:p.Ser639Asn NM_001006658.2:c.1916G>A:missense variant Benign risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 28, 2016 OMIM OMIM Systemic lupus erythematosus 9;SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 17360460 germline Genetics Home Reference:systemic-lupus-erythematosus;MedGen:C1970455;OMIM:120650.0001;OMIM:610927 2007-03-06 0 0 1 209706871 C CA 209706873 209706873 + Haplotype 8911 RCV000009466 SCV000029684 23950 HSD11B1 NM_181755.2:c.331+53_331+54insA NM_181755.2:c.331+53_331+54insA:intron variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 2007 OMIM OMIM Cortisone reductase deficiency 2;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 12858176;15827106;16091483;16817821;17062770 germline Genetic Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103;MedGen:C3553382;OMIM:614662;Orphanet:168588 2007-01-01 0 0 1 209706914 T G 209706914 209706914 + Haplotype 8911 RCV000009466 SCV000029684 76328 HSD11B1 NM_181755.2:c.332-29T>G NM_181755.2:c.332-29T>G:intron variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 2007 OMIM OMIM Cortisone reductase deficiency 2;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 12858176;15827106;16091483;16817821;17062770 germline Genetic Alliance:CORTISONE+REDUCTASE+DEFICIENCY+2/8103;MedGen:C3553382;OMIM:614662;Orphanet:168588 2007-01-01 0 0 -1 210919955 C G 210919955 210919955 - Haplotype 203434 RCV000185594 SCV000238503 181518 KCNH1 NM_172362.2:c.1147G>C NP_758872.1:p.Val383Leu NM_172362.2:c.1147G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 2015 OMIM OMIM Zimmermann-Laband syndrome 1;ZIMMERMANN-LABAND SYNDROME 1 18541964;25915598 germline Gene:353173;Genetic Alliance:Laband+syndrome/4062;MedGen:CN032818;OMIM:135500;Orphanet:3473 2015-06-01 0 0 -1 210920047 G T 210920047 210920047 - Haplotype 203434 RCV000185594 SCV000238503 181521 KCNH1 NM_002238.3:c.974C>A NP_758872.1:p.Ser352Tyr NM_172362.2:c.1055C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 01, 2015 OMIM OMIM Zimmermann-Laband syndrome 1;ZIMMERMANN-LABAND SYNDROME 1 18541964;25915598 germline Gene:353173;Genetic Alliance:Laband+syndrome/4062;MedGen:CN032818;OMIM:135500;Orphanet:3473 2015-06-01 0 0 -1 226982996 C T 226982996 226982996 + Haplotype 217876 RCV000201953 SCV000256872 214530 COQ8A NM_020247.4:c.1042C>T NP_064632.2:p.Arg348Ter NM_020247.4:c.1042C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jan 23, 2017 Mendelics Analise Genomica Mendelics Analise Genomica Coenzyme Q10 deficiency, primary, 4 18319072;20580948;28125198 germline GeneReviews:NBK410087;Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342;MedGen:C2677589;OMIM:612016;Orphanet:139485 2014-06-16 2 0 +1 210919955 C G 210919955 210919955 - Haplotype 203434 RCV000185594 SCV000238503 181518 KCNH1 NM_172362.2:c.1147G>C NP_758872.1:p.Val383Leu NM_172362.2:c.1147G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 01, 2015 OMIM OMIM Zimmermann-Laband syndrome 1;ZIMMERMANN-LABAND SYNDROME 1 18541964;25915598 germline Gene:353173;Genetic Alliance:Laband+syndrome/4062;MedGen:CN032818;OMIM:135500;Orphanet:3473 2015-06-01 0 0 +1 210920047 G T 210920047 210920047 - Haplotype 203434 RCV000185594 SCV000238503 181521 KCNH1 NM_002238.3:c.974C>A NP_758872.1:p.Ser352Tyr NM_172362.2:c.1055C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 2015 OMIM OMIM Zimmermann-Laband syndrome 1;ZIMMERMANN-LABAND SYNDROME 1 18541964;25915598 germline Gene:353173;Genetic Alliance:Laband+syndrome/4062;MedGen:CN032818;OMIM:135500;Orphanet:3473 2015-06-01 0 0 +1 226982996 C T 226982996 226982996 + Haplotype 217876 RCV000201953 SCV000256872 214530 COQ8A NM_020247.4:c.1042C>T NP_064632.2:p.Arg348Ter NM_020247.4:c.1042C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 2017 Mendelics Analise Genomica Mendelics Analise Genomica Coenzyme Q10 deficiency, primary, 4 18319072;20580948;28125198 germline GeneReviews:NBK410087;Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342;MedGen:C2677589;OMIM:612016;Orphanet:139485 2014-06-16 0 0 1 226985332 G A 226985332 226985332 + Haplotype 217876 RCV000201953 SCV000256872 18675 COQ8A NM_020247.4:c.1651G>A NP_064632.2:p.Glu551Lys NM_020247.4:c.1651G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Oct 11, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Coenzyme Q10 deficiency, primary, 4 18319072;20580948;28125198 germline GeneReviews:NBK410087;Genetic Alliance:Spinocerebellar+ataxia%2C+autosomal+recessive+9/9342;MedGen:C2677589;OMIM:612016;Orphanet:139485 2014-06-16 1 0 1 229432787 G A 229432787 229432787 - Haplotype 18293 RCV000019955 SCV000040253 38498 ACTA1 NM_001100.3:c.223C>T NP_001091.1:p.His75Tyr NM_001100.3:c.223C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 2009 OMIM OMIM Nemaline myopathy 3;NEMALINE MYOPATHY 3 19553116;20301465;22510848 germline GeneReviews:NBK1288;Genetic Alliance:Nemaline+myopathy+3/5125;MedGen:C1834336;OMIM:161800;Office of Rare Diseases:10111 2009-07-01 0 0 1 229432788 C A 229432788 229432788 - Haplotype 18293 RCV000019955 SCV000040253 33332 ACTA1 NM_001100.3:c.222G>T NP_001091.1:p.Glu74Asp NM_001100.3:c.222G>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 2009 OMIM OMIM Nemaline myopathy 3;NEMALINE MYOPATHY 3 19553116;20301465;22510848 germline GeneReviews:NBK1288;Genetic Alliance:Nemaline+myopathy+3/5125;MedGen:C1834336;OMIM:161800;Office of Rare Diseases:10111 2009-07-01 0 0 -2 47046329 A G 47046329 47046329 + Haplotype 190388 RCV000170526 SCV000223091 188215 TTC7A NM_020458.3:c.1817A>G NP_065191.2:p.Lys606Arg NM_001288953.1:c.1715A>G:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Oct 25, 2016 OMIM OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 germline MedGen:C0220744;OMIM:243150;OMIM:609332.0001;OMIM:609332.0002;OMIM:609332.0003;OMIM:609332.0004;OMIM:609332.0005;OMIM:609332.0006;OMIM:609332.0007;OMIM:609332.0008;OMIM:609332.0009;OMIM:609332.0010;OMIM:609332.0011;OMIM:609332.0012;OMIM:609332.0013;OMIM:609332.0014;OMIM:609332.0015;Office of Rare Diseases:3013;Orphanet:2300;Orphanet:436252;SNOMED CT:95472001 2013-09-01 1 0 -2 47050043 T C 47050043 47050043 + Haplotype 190388 RCV000170526 SCV000223091 188216 TTC7A NM_020458.3:c.2014T>C NP_065191.2:p.Ser672Pro NM_001288953.1:c.1912T>C:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 25, 2016 OMIM OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 germline MedGen:C0220744;OMIM:243150;OMIM:609332.0001;OMIM:609332.0002;OMIM:609332.0003;OMIM:609332.0004;OMIM:609332.0005;OMIM:609332.0006;OMIM:609332.0007;OMIM:609332.0008;OMIM:609332.0009;OMIM:609332.0010;OMIM:609332.0011;OMIM:609332.0012;OMIM:609332.0013;OMIM:609332.0014;OMIM:609332.0015;Office of Rare Diseases:3013;Orphanet:2300;Orphanet:436252;SNOMED CT:95472001 2013-09-01 0 0 +1 231421509 C G 231421509 231421509 - Haplotype 156155 RCV000144173 SCV000189250 165954 EGLN1 NM_022051.2:c.380G>C NP_071334.1:p.Cys127Ser NM_022051.2:c.380G>C:missense variant Benign, Affects affects 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Hemoglobin, high altitude adaptation;HEMOGLOBIN, HIGH ALTITUDE ADAPTATION 25129147 germline MedGen:C1836778;OMIM:609070 2014-09-01 0 0 +1 231421877 G C 231421877 231421877 - Haplotype 156155 RCV000144173 SCV000189250 227498 EGLN1 NM_022051.2:c.12C>G NP_071334.1:p.Asp4Glu NM_022051.2:c.12C>G:missense variant Benign/Likely benign affects 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Apr 12, 2017 OMIM OMIM Hemoglobin, high altitude adaptation;HEMOGLOBIN, HIGH ALTITUDE ADAPTATION 25129147 germline MedGen:C1836778;OMIM:609070 2014-09-01 2 0 +2 44942310 G A 44942310 44942310 + Haplotype 441532 RCV000006470 SCV000026653 21137 SIX3 NM_005413.3:c.206G>A NP_005404.1:p.Gly69Asp NM_005413.3:c.206G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 01, 2006 OMIM OMIM Holoprosencephaly 2;HOLOPROSENCEPHALY 2 17001667;20301702 germline GeneReviews:NBK1530;Genetic Alliance:Holoprosencephaly+2/8559;MedGen:C1834877;OMIM:157170;Orphanet:2162 2006-12-01 0 0 +2 47046329 A G 47046329 47046329 + Haplotype 190388 RCV000170526 SCV000223091 188215 TTC7A NM_020458.3:c.1817A>G NP_065191.2:p.Lys606Arg NM_001288953.1:c.1715A>G:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 24, 2017 OMIM OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 germline MedGen:C0220744;OMIM:243150;OMIM:609332.0001;OMIM:609332.0002;OMIM:609332.0003;OMIM:609332.0004;OMIM:609332.0005;OMIM:609332.0006;OMIM:609332.0007;OMIM:609332.0008;OMIM:609332.0009;OMIM:609332.0010;OMIM:609332.0011;OMIM:609332.0012;OMIM:609332.0013;OMIM:609332.0014;OMIM:609332.0015;Office of Rare Diseases:3013;Orphanet:2300;Orphanet:436252;SNOMED CT:95472001 2013-09-01 0 1 +2 47050043 T C 47050043 47050043 + Haplotype 190388 RCV000170526 SCV000223091 188216 TTC7A NM_020458.3:c.2014T>C NP_065191.2:p.Ser672Pro NM_001288953.1:c.1912T>C:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 24, 2017 OMIM OMIM Multiple gastrointestinal atresias;GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 23830146 germline MedGen:C0220744;OMIM:243150;OMIM:609332.0001;OMIM:609332.0002;OMIM:609332.0003;OMIM:609332.0004;OMIM:609332.0005;OMIM:609332.0006;OMIM:609332.0007;OMIM:609332.0008;OMIM:609332.0009;OMIM:609332.0010;OMIM:609332.0011;OMIM:609332.0012;OMIM:609332.0013;OMIM:609332.0014;OMIM:609332.0015;Office of Rare Diseases:3013;Orphanet:2300;Orphanet:436252;SNOMED CT:95472001 2013-09-01 0 1 2 74464919 C T 74464919 74464919 - Haplotype 375688 RCV000114957 SCV000148867 214379 MOGS NM_006302.2:c.329G>A NP_006293.2:p.Arg110His NM_006302.2:c.329G>A:missense variant Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 2015 OMIM OMIM Congenital disorder of glycosylation type 2B;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb 20301507;24716661 germline Genetic Alliance:CONGENITAL+DISORDER+OF+GLYCOSYLATION%2C+TYPE+IIb/8057;MedGen:C1853736;OMIM:606056;Office of Rare Diseases:10767;Orphanet:79330 2014-04-24 0 0 2 74465183 G T 74465183 74465183 - Haplotype 375688 RCV000114957 SCV000148867 132608 MOGS NM_006302.2:c.65C>A NP_006293.2:p.Ala22Glu NM_001146158.1:c.-59+131C>A:intron variant;NM_006302.2:c.65C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 24, 2014 OMIM OMIM Congenital disorder of glycosylation type 2B;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb 20301507;24716661 germline Genetic Alliance:CONGENITAL+DISORDER+OF+GLYCOSYLATION%2C+TYPE+IIb/8057;MedGen:C1853736;OMIM:606056;Office of Rare Diseases:10767;Orphanet:79330 2014-04-24 0 0 2 86217101 T C 86217101 86217101 - Distinct chromosomes 157528 RCV000144873 SCV000172145 167389 REEP1 NM_001164730.1:c.626A>G NP_001158202.1:p.Ter209Trp NM_001164730.1:c.626A>G:stop lost;NM_001164732.1:c.370A>G:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 2013 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type|spasticity;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 0 0 2 127654493 G A 127654493 127654493 - Haplotype 222901 RCV000208555 SCV000264322 224616 LIMS2 NM_001161404.1:c.275C>T NP_001154876.1:p.Pro92Leu NM_001161404.1:c.275C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 12, 2016 OMIM OMIM Muscular dystrophy, limb-girdle, type 2W;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W (1 family) 25589244 germline MedGen:C4225192;OMIM:616827 2016-08-12 0 0 2 127654507 G C 127654507 127654507 - Haplotype 222901 RCV000208555 SCV000264322 224615 LIMS2 NM_001136037.2:c.342C>G NP_001154876.1:p.Asn87Lys NM_001161404.1:c.261C>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 12, 2016 OMIM OMIM Muscular dystrophy, limb-girdle, type 2W;MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W (1 family) 25589244 germline MedGen:C4225192;OMIM:616827 2016-08-12 0 0 +2 166272746 C A 166272746 166272746 - Haplotype 441531 RCV000023304 SCV000044595 39316 SCN9A NM_002977.3:c.2971G>T NP_002968.1:p.Val991Leu NM_002977.3:c.2971G>T:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Aug 22, 2017 OMIM OMIM Small fiber neuropathy;NEUROPATHY, SMALL FIBER 21698661 germline GeneTests:320010;Genetics Home Reference:small-fiber-neuropathy;MedGen:C3276709;OMIM:133020 2012-01-01 1 1 +2 166277030 T G 166277030 166277030 - Haplotype 441531 RCV000023304 SCV000044595 39315 SCN9A NM_002977.3:c.2794A>C NP_002968.1:p.Met932Leu NM_002977.3:c.2794A>C:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Aug 22, 2017 OMIM OMIM Small fiber neuropathy;NEUROPATHY, SMALL FIBER 21698661 germline GeneTests:320010;Genetics Home Reference:small-fiber-neuropathy;MedGen:C3276709;OMIM:133020 2012-01-01 2 0 2 178530595 AC A 178530596 178530596 - Haplotype 178839 RCV000155611 SCV000205319 172806 TTN NM_133378.4:c.98315delG NP_001254479.2:p.Gly35340Valfs NM_001267550.2:c.106019delG:frameshift variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Sep 27, 2013 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Autosomal recessive centronuclear myopathy 22617344;23975875;24033266 germline Genetic Alliance:Autosomal+recessive+centronuclear+myopathy/7787;Genetics Home Reference:centronuclear-myopathy;MedGen:C0410204;OMIM:255200;Orphanet:169186;Orphanet:ORPHA169186;SNOMED CT:240081004 2013-09-27 0 0 2 178569735 ATGTT A 178569736 178569739 - Haplotype 178839 RCV000155611 SCV000205319 172708 TTN NM_001267550.2:c.76393_76396delAACA NP_001254479.2:p.Asn25465Terfs NM_001267550.2:c.76393_76396delAACA:frameshift variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Sep 27, 2013 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Autosomal recessive centronuclear myopathy 22617344;23975875;24033266 germline Genetic Alliance:Autosomal+recessive+centronuclear+myopathy/7787;Genetics Home Reference:centronuclear-myopathy;MedGen:C0410204;OMIM:255200;Orphanet:169186;Orphanet:ORPHA169186;SNOMED CT:240081004 2013-09-27 0 0 -2 178607565 T A 178607565 178607565 - Haplotype 179465 RCV000156254 SCV000205970 56237 TTN NM_001267550.2:c.53123A>T NP_597676.3:p.Lys8768Ile NM_001267550.2:c.53123A>T:missense variant Benign/Likely benign uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Jan 25, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-04 0 0 -2 178607566 T C 178607566 178607566 - Haplotype 179465 RCV000156254 SCV000205970 173874 TTN NM_001267550.2:c.53122A>G NP_001254479.2:p.Lys17708Glu NM_001267550.2:c.53122A>G:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Aug 31, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-04 0 1 -2 188997189 C T 188997189 188997189 + Haplotype 101229 RCV000087466 SCV000120353 106974 COL3A1 NM_000090.3:c.1786C>T NP_000081.1:p.Arg596Ter NM_000090.3:c.1786C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 19, 2017 Collagen Diagnostic Laboratory Collagen Diagnostic Laboratory Ehlers-Danlos syndrome, type 4;Ehlers-Danlos syndrome, type 4 20301667;23788249;24882528;25173340;25355838;25356965;27854360 germline GeneReviews:NBK1494;Genetic Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491;MedGen:C0268338;OMIM:130050;Orphanet:286;SNOMED CT:17025000 0000-00-00 0 0 +2 178607565 T A 178607565 178607565 - Haplotype 179465 RCV000156254 SCV000205970 56237 TTN NM_001267550.2:c.53123A>T NP_597676.3:p.Lys8768Ile NM_001267550.2:c.53123A>T:missense variant Benign/Likely benign uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Aug 08, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-04 0 0 +2 178607566 T C 178607566 178607566 - Haplotype 179465 RCV000156254 SCV000205970 173874 TTN NM_001267550.2:c.53122A>G NP_001254479.2:p.Lys17708Glu NM_001267550.2:c.53122A>G:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Aug 31, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-04 1 1 +2 188997189 C T 188997189 188997189 + Haplotype 101229 RCV000087466 SCV000120353 106974 COL3A1 NM_000090.3:c.1786C>T NP_000081.1:p.Arg596Ter NM_000090.3:c.1786C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 19, 2017 Collagen Diagnostic Laboratory Collagen Diagnostic Laboratory Ehlers-Danlos syndrome, type 4;Ehlers-Danlos syndrome, type 4 20301667;23788249;24882528;25173340;25355838;25356965;27854360 germline GeneReviews:NBK1494;Genetic Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491;MedGen:C0268338;OMIM:130050;Orphanet:286;SNOMED CT:17025000 0000-00-00 1 0 2 189010205 G A 189010205 189010205 + Haplotype 101229 RCV000087466 SCV000120353 106975 COL3A1 NM_000090.3:c.3851G>A NP_000081.1:p.Gly1284Glu NM_000090.3:c.3851G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided - Collagen Diagnostic Laboratory Collagen Diagnostic Laboratory Ehlers-Danlos syndrome, type 4;Ehlers-Danlos syndrome, type 4 20301667;23788249;24882528;25173340;25355838;25356965;27854360 germline GeneReviews:NBK1494;Genetic Alliance:Ehlers-Danlos+Syndrome+Vascular+Type/2491;MedGen:C0268338;OMIM:130050;Orphanet:286;SNOMED CT:17025000 0000-00-00 0 0 -2 200571795 CAG C 200571799 200571800 Haplotype 375673 RCV000417144 SCV000494729 362513 CLDN14 NM_152524.5:c.1453_1454delGA NP_689737.4:p.Glu485Lysfs NM_152524.5:c.1453_1454delGA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 30, 2016 Laboratory of Molecular Genetics,National Institutes of Health Laboratory of Molecular Genetics,National Institutes of Health Perrault Syndrome;Deafness;Primary ovarian insufficiency;Perrault Syndrome germline Illumina Clinical Services Laboratory,Illumina:37522;MedGen:CN239459 2016-08-30 0 0 +2 200571795 CAG C 200571799 200571800 Haplotype 375673 RCV000417144 SCV000494729 362513 CLDN14 NM_152524.5:c.1453_1454delGA NP_689737.4:p.Glu485Lysfs NM_152524.5:c.1453_1454delGA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 30, 2016 Laboratory of Molecular Genetics,National Institutes of Health Laboratory of Molecular Genetics,National Institutes of Health Perrault Syndrome;Deafness;Primary ovarian insufficiency;Perrault Syndrome germline Illumina Clinical Services Laboratory,Illumina:37522;MedGen:CN239459 2016-08-30 0 0 2 201709900 G A 201709900 201709900 - Haplotype 217879 RCV000201952 SCV000256875 214531 ALS2 NM_020919.3:c.4261C>T NP_065970.2:p.Arg1421Ter NM_020919.3:c.4261C>T:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 14, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Infantile-onset ascending hereditary spastic paralysis 12919135;18394004;20301421 loss of function germline GeneReviews:NBK1243;Genetic Alliance:Infantile-onset+ascending+hereditary+spastic+paralysis/3819;Genetic Testing Registry (GTR):GTR000249543;Genetic Testing Registry (GTR):GTR000514976;Genetic Testing Registry (GTR):GTR000528540;MedGen:C1846588;OMIM:607225;Office of Rare Diseases:4914;Orphanet:293168 2014-07-14 0 0 2 201723325 C G 201723325 201723325 - CompoundHeterozygote 42162 RCV000034989 SCV000058622 205072 ALS2 NM_020919.3:c.3624+5G>C NM_020919.3:c.3624+5G>C:intron variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 10, 2011 GeneReviews GeneReviews Amyotrophic lateral sclerosis type 2;ALS2-Related Disorders 20018642;20301421;20301623 not provided GeneReviews:NBK1243;Genetic Alliance:Amyotrophic+Lateral+Sclerosis+Type+2/404;MedGen:C1859807;OMIM:205100;OMIM:606352.0001;OMIM:606352.0011;OMIM:606352.0016;OMIM:606352.0017;Office of Rare Diseases:9470;Orphanet:300605 2011-02-10 0 0 2 201723388 AC A 201723389 201723389 - CompoundHeterozygote 42162 RCV000034989 SCV000058622 51328 ALS2 NM_020919.3:c.3565delG NP_065970.2:p.Val1189Trpfs NM_020919.3:c.3565delG:frameshift variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 10, 2011 GeneReviews GeneReviews Amyotrophic lateral sclerosis type 2;ALS2-Related Disorders 20018642;20301421;20301623 not provided GeneReviews:NBK1243;Genetic Alliance:Amyotrophic+Lateral+Sclerosis+Type+2/404;MedGen:C1859807;OMIM:205100;OMIM:606352.0001;OMIM:606352.0011;OMIM:606352.0016;OMIM:606352.0017;Office of Rare Diseases:9470;Orphanet:300605 2011-02-10 0 0 @@ -86,60 +94,70 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 2 201746653 G T 201746653 201746653 - Haplotype 217879 RCV000201952 SCV000256875 214532 ALS2 NM_020919.3:c.1911C>A NP_065970.2:p.Tyr637Ter NM_020919.3:c.1911C>A:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 14, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Infantile-onset ascending hereditary spastic paralysis 12919135;18394004;20301421 loss of function germline GeneReviews:NBK1243;Genetic Alliance:Infantile-onset+ascending+hereditary+spastic+paralysis/3819;Genetic Testing Registry (GTR):GTR000249543;Genetic Testing Registry (GTR):GTR000514976;Genetic Testing Registry (GTR):GTR000528540;MedGen:C1846588;OMIM:607225;Office of Rare Diseases:4914;Orphanet:293168 2014-07-14 0 0 2 201746738 T TCACTG 201746739 201746743 - CompoundHeterozygote 42138 RCV000034965 SCV000058589 51304 ALS2 NM_020919.3:c.1821_1825dupCAGTG NP_065970.2:p.Glu609Alafs NM_020919.3:c.1821_1825dupCAGTG:frameshift variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 10, 2011 GeneReviews GeneReviews Infantile-onset ascending hereditary spastic paralysis;ALS2-Related Disorders 18394004;20301421 loss of function not provided GeneReviews:NBK1243;Genetic Alliance:Infantile-onset+ascending+hereditary+spastic+paralysis/3819;Genetic Testing Registry (GTR):GTR000249543;Genetic Testing Registry (GTR):GTR000514976;Genetic Testing Registry (GTR):GTR000528540;MedGen:C1846588;OMIM:607225;Office of Rare Diseases:4914;Orphanet:293168 2011-02-10 0 0 2 227273090 G A 227273090 227273090 + Haplotype 397582 RCV000449541 SCV000537787 384474 COL4A3 NM_000091.4:c.1900G>A NP_000082.2:p.Gly634Arg NM_000091.4:c.1900G>A:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided - Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Alport syndrome, autosomal recessive 20301386;22166944 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome+Recessive+Type/337;MedGen:C1567744;OMIM:203780;Orphanet:63;Orphanet:88919 0000-00-00 0 0 -2 227273117 G A 227273117 227273117 + Haplotype 397582 RCV000449541 SCV000537787 285718 COL4A3 NM_000091.4:c.1927G>A NP_000082.2:p.Gly643Ser NM_000091.4:c.1927G>A:missense variant Uncertain significance likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Alport syndrome, autosomal recessive 20301386;22166944 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome+Recessive+Type/337;MedGen:C1567744;OMIM:203780;Orphanet:63;Orphanet:88919 0000-00-00 0 0 -2 232484156 G A 232484156 232484156 - Haplotype 235817 RCV000224367 SCV000281670 48091 ECEL1 NM_004826.3:c.1252C>T NP_004817.2:p.Arg418Cys NM_004826.3:c.1252C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 -2 232484156 G T 232484156 232484156 - Haplotype 235818 RCV000224716 SCV000281671 48089 ECEL1 NM_004826.3:c.1252C>A NP_004817.2:p.Arg418Ser NM_004826.3:c.1252C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 -2 232484469 T A 232484469 232484469 - Haplotype 235818 RCV000224716 SCV000281671 48090 ECEL1 NM_004826.3:c.1184+3A>T NM_004826.3:c.1184+3A>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 +2 227273117 G A 227273117 227273117 + Haplotype 397582 RCV000449541 SCV000537787 285718 COL4A3 NM_000091.4:c.1927G>A NP_000082.2:p.Gly643Ser NM_000091.4:c.1927G>A:missense variant Uncertain significance likely pathogenic 0 1 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 14, 2016 Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Alport syndrome, autosomal recessive 20301386;22166944 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome+Recessive+Type/337;MedGen:C1567744;OMIM:203780;Orphanet:63;Orphanet:88919 0000-00-00 1 0 +2 232484156 G A 232484156 232484156 - Haplotype 235817 RCV000224367 SCV000281670 48091 ECEL1 NM_004826.3:c.1252C>T NP_004817.2:p.Arg418Cys NM_004826.3:c.1252C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 +2 232484156 G T 232484156 232484156 - Haplotype 235818 RCV000224716 SCV000281671 48089 ECEL1 NM_004826.3:c.1252C>A NP_004817.2:p.Arg418Ser NM_004826.3:c.1252C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 +2 232484469 T A 232484469 232484469 - Haplotype 235818 RCV000224716 SCV000281671 48090 ECEL1 NM_004826.3:c.1184+3A>T NM_004826.3:c.1184+3A>T:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 2 232485078 T C 232485078 232485078 - Haplotype 235820 RCV000224404 SCV000281673 237475 ECEL1 NM_004826.3:c.869A>G NP_004817.2:p.Tyr290Cys NM_004826.3:c.869A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jan 08, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 2 232485253 CCCAT AGC 232485253 232485257 - Haplotype 235820 RCV000224404 SCV000281673 237476 ECEL1 NM_004826.3:c.797_801delATGGGinsGCT NP_004817.2:p.Asp266Glyfs NM_004826.3:c.797_801delATGGGinsGCT:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jan 08, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 2 232485937 G GT 232485938 232485938 - Haplotype 235821 RCV000224209 SCV000281675 48087 ECEL1 NM_004826.3:c.716dupA NP_004817.2:p.Tyr239Terfs NM_004826.3:c.716dupA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 1 0 -2 232486064 C T 232486064 232486064 - Haplotype 235817 RCV000224367 SCV000281670 48092 ECEL1 NM_004826.3:c.590G>A NP_004817.2:p.Gly197Asp NM_004826.3:c.590G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 -2 232486298 CTGGCGTCCAGGT C 232486299 232486310 - Haplotype 235821 RCV000224209 SCV000281675 48088 ECEL1 NM_004826.3:c.344_355delACCTGGACGCCA NP_004817.2:p.Asn115_Ala118del NM_004826.3:c.344_355delACCTGGACGCCA:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 +2 232486064 C T 232486064 232486064 - Haplotype 235817 RCV000224367 SCV000281670 48092 ECEL1 NM_004826.3:c.590G>A NP_004817.2:p.Gly197Asp NM_004826.3:c.590G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 +2 232486298 CTGGCGTCCAGGT C 232486299 232486310 - Haplotype 235821 RCV000224209 SCV000281675 48088 ECEL1 NM_004826.3:c.344_355delACCTGGACGCCA NP_004817.2:p.Asn115_Ala118del NM_004826.3:c.344_355delACCTGGACGCCA:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Arthrogryposis, distal, type 5d 23261301 inherited MedGen:C3554415;OMIM:615065;Orphanet:329457 2013-01-08 0 0 2 240869302 T TTCCTGGTTG 240869303 240869311 + Haplotype 204181 RCV000186388 SCV000239738 200465 AGXT NM_000030.2:c.299_307dupTCCTGGTTG NP_000021.1:p.Val102_Gly103insValLeuVal NM_000030.2:c.299_307dupTCCTGGTTG:inframe_variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 27, 2014 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 17460142;20301460;22547750 loss of function germline GeneReviews:NBK1283;Genetic Alliance:Primary+hyperoxaluria+type+1/5947;Genetic Testing Registry (GTR):GTR000118454;Genetic Testing Registry (GTR):GTR000507681;Genetic Testing Registry (GTR):GTR000514623;Genetic Testing Registry (GTR):GTR000515735;Genetic Testing Registry (GTR):GTR000515765;Genetic Testing Registry (GTR):GTR000521390;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 2014-11-27 0 0 2 240869312 G A 240869312 240869312 + Haplotype 204181 RCV000186388 SCV000239738 200466 AGXT NM_000030.2:c.308G>A NP_000021.1:p.Gly103Glu NM_000030.2:c.308G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 27, 2014 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 17460142;20301460;22547750 loss of function germline GeneReviews:NBK1283;Genetic Alliance:Primary+hyperoxaluria+type+1/5947;Genetic Testing Registry (GTR):GTR000118454;Genetic Testing Registry (GTR):GTR000507681;Genetic Testing Registry (GTR):GTR000514623;Genetic Testing Registry (GTR):GTR000515735;Genetic Testing Registry (GTR):GTR000515765;Genetic Testing Registry (GTR):GTR000521390;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 2014-11-27 0 0 2 240875986 G GA 240875987 240875988 + Haplotype 204202 RCV000186409 SCV000239759 200559 AGXT NM_000030.2:c.829_830insA NP_000021.1:p.Ala277Aspfs NM_000030.2:c.829_830insA:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 27, 2014 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 20301460;22547750 loss of function germline GeneReviews:NBK1283;Genetic Alliance:Primary+hyperoxaluria+type+1/5947;Genetic Testing Registry (GTR):GTR000118454;Genetic Testing Registry (GTR):GTR000507681;Genetic Testing Registry (GTR):GTR000514623;Genetic Testing Registry (GTR):GTR000515735;Genetic Testing Registry (GTR):GTR000515765;Genetic Testing Registry (GTR):GTR000521390;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 2014-11-27 0 0 2 240875988 C A 240875988 240875988 + Haplotype 204202 RCV000186409 SCV000239759 200560 AGXT NM_000030.2:c.830C>A NP_000021.1:p.Ala277Asp NM_000030.2:c.830C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 27, 2014 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type I;Primary hyperoxaluria, type I 20301460;22547750 loss of function germline GeneReviews:NBK1283;Genetic Alliance:Primary+hyperoxaluria+type+1/5947;Genetic Testing Registry (GTR):GTR000118454;Genetic Testing Registry (GTR):GTR000507681;Genetic Testing Registry (GTR):GTR000514623;Genetic Testing Registry (GTR):GTR000515735;Genetic Testing Registry (GTR):GTR000515765;Genetic Testing Registry (GTR):GTR000521390;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268164;OMIM:259900;Office of Rare Diseases:2835;Orphanet:416;Orphanet:93598;SNOMED CT:65520001 2014-11-27 0 0 3 15635477 GCGGCTG TCC 15635477 15635483 + Haplotype 38562 RCV000021886 SCV000042553 16934 BTD NM_000060.4:c.98_104delGCGGCTGinsTCC NP_000051.1:p.Cys33Phefs NM_000060.4:c.98_104delGCGGCTGinsTCC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Apr 19, 2017 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 14707518;15776412;20301497;22378278;22475884;9396567 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 2 0 -3 15635512 G A 15635512 15635512 + Haplotype 24975;38563 RCV000021890;RCV000021889 SCV000042558;SCV000042557 36313 BTD NM_000060.4:c.133G>A NP_000051.1:p.Gly45Arg NM_000060.4:c.133G>A:missense variant Conflicting interpretations of pathogenicity pathogenic 2 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jul 08, 2016 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency 10400129;15060693;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 1 1 +3 15635512 G A 15635512 15635512 + Haplotype 24975;38563 RCV000021890;RCV000021889 SCV000042558;SCV000042557 36313 BTD NM_000060.4:c.133G>A NP_000051.1:p.Gly45Arg NM_000060.4:c.133G>A:missense variant Conflicting interpretations of pathogenicity pathogenic 2 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Nov 03, 2017 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency 10400129;15060693;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 1 1 3 15635538 C A 15635538 15635538 + Haplotype 24977 RCV000021892 SCV000042560 36316 BTD NM_000060.4:c.159C>A NP_000051.1:p.His53Gln NM_000060.4:c.159C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 3 15635539 G T 15635539 15635539 + Haplotype 24977 RCV000021892 SCV000042560 36317 BTD NM_000060.4:c.160G>T NP_000051.1:p.Glu54Ter NM_000060.4:c.160G>T:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 -3 15635591 T C 15635591 15635591 + Haplotype 38562;38564 RCV000021886;RCV000021901 SCV000042553;SCV000042569 47043 BTD NM_000060.4:c.212T>C NP_000051.1:p.Leu71Pro NM_000060.4:c.212T>C:missense variant Conflicting interpretations of pathogenicity pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 09, 2016 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency 14707518;15776412;20301497;22378278;22475884;9396567;15060693 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 1 +3 15635591 T C 15635591 15635591 + Haplotype 38562;38564 RCV000021886;RCV000021901 SCV000042553;SCV000042569 47043 BTD NM_000060.4:c.212T>C NP_000051.1:p.Leu71Pro NM_000060.4:c.212T>C:missense variant Conflicting interpretations of pathogenicity pathogenic 2 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Nov 09, 2016 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency 14707518;15776412;20301497;22378278;22475884;9396567;15060693 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 1 1 3 15635614 C T 15635614 15635614 + Haplotype 38565;38566 RCV000021903;RCV000032009 SCV000042572;SCV000042573 16944 BTD NM_000060.4:c.235C>T NP_000051.1:p.Arg79Cys NM_000060.4:c.235C>T:missense variant Pathogenic pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided Sep 28, 2016 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency 10801053;15776412;16435182;20301497;22378278;22475884;10400129;9396567 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 1 0 -3 15635615 G A 15635615 15635615 + Haplotype 38564 RCV000021901 SCV000042569 46851 BTD NM_000060.4:c.236G>A NP_000051.1:p.Arg79His NM_000060.4:c.236G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 14707518;15060693;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 +3 15635615 G A 15635615 15635615 + Haplotype 38564 RCV000021901 SCV000042569 46851 BTD NM_000060.4:c.236G>A NP_000051.1:p.Arg79His NM_000060.4:c.236G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 14707518;15060693;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 3 15635662 C T 15635662 15635662 + Haplotype 24994 RCV000021912 SCV000042581 36332 BTD NM_000060.4:c.283C>T NP_000051.1:p.Gln95Ter NM_000060.4:c.283C>T:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 3 15644326 G A 15644326 15644326 + Haplotype 38566;38568 RCV000032009;RCV000021933 SCV000042573;SCV000042602 46845 BTD NM_000060.4:c.470G>A NP_000051.1:p.Arg157His NM_000060.4:c.470G>A:missense variant Pathogenic pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 25, 2016 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency 10400129;10801053;15776412;16435182;20301497;22378278;22475884;9396567 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 -3 15644367 G A 15644367 15644367 + Haplotype 25016 RCV000021936 SCV000022135;SCV000042605 36353 BTD NM_000060.4:c.511G>A NP_000051.1:p.Ala171Thr NM_000060.4:c.511G>A:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;no assertion criteria provided May 18, 2017 OMIM;ARUP Institute,ARUP Laboratories OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY;Biotinidase deficiency 10400129;15776412;20301497;21228398;22378278;22475884;7509806;9375914;9654207 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2011-01-12;2012-12-04 0 0 -3 15644497 A G 15644497 15644497 + Haplotype 25030 RCV000021952 SCV000042621 36367 BTD NM_000060.4:c.641A>G NP_000051.1:p.Asn214Ser NM_000060.4:c.641A>G:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Mar 18, 2016 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 1 1 -3 15644650 A T 15644650 15644650 + Haplotype 25042 RCV000021964 SCV000042634 36378 BTD NM_000060.4:c.794A>T NP_000051.1:p.His265Leu NM_000060.4:c.794A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 12359137;20083419;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 +3 15644367 G A 15644367 15644367 + Haplotype 25016 RCV000021936 SCV000022135;SCV000042605 36353 BTD NM_000060.4:c.511G>A NP_000051.1:p.Ala171Thr NM_000060.4:c.511G>A:missense variant Conflicting interpretations of pathogenicity pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;no assertion criteria provided May 18, 2017 OMIM;ARUP Institute,ARUP Laboratories OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY;Biotinidase deficiency 10400129;15776412;20301497;21228398;22378278;22475884;7509806;9375914;9654207 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2011-01-12;2012-12-04 0 1 +3 15644497 A G 15644497 15644497 + Haplotype 25030 RCV000021952 SCV000042621 36367 BTD NM_000060.4:c.641A>G NP_000051.1:p.Asn214Ser NM_000060.4:c.641A>G:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 01, 2017 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 1 +3 15644650 A T 15644650 15644650 + Haplotype 25042 RCV000021964 SCV000042634 36378 BTD NM_000060.4:c.794A>T NP_000051.1:p.His265Leu NM_000060.4:c.794A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 12359137;20083419;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 3 15644721 G C 15644721 15644721 + Haplotype 38563 RCV000021889 SCV000042557 46848 BTD NM_000060.4:c.865G>C NP_000051.1:p.Ala289Pro NM_000060.4:c.865G>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129;15060693;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 -3 15644789 T G 15644789 15644789 + Haplotype 25042 RCV000021964 SCV000042634 36379 BTD NM_000060.4:c.933T>G NP_000051.1:p.Ser311Arg NM_000060.4:c.933T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 12359137;20083419;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 -3 15645027 C T 15645027 15645027 + Haplotype 38571 RCV000021985 SCV000042655 46849 BTD NM_001281724.2:c.1177C>T NP_001268653.1:p.Pro393Ser NM_000060.4:c.1171C>T:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 22, 2017 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 11668630;15776412;20301497;22378278;22475884;9396567 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 -3 15645063 T G 15645063 15645063 + Haplotype 1904 RCV000001981 SCV000022139;SCV000042659 16943 BTD NM_000060.4:c.1207T>G NP_000051.1:p.Phe403Val NM_000060.4:c.1207T>G:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided Apr 29, 2016 OMIM;ARUP Institute,ARUP Laboratories OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY;Biotinidase deficiency 10400129;15776412;20301497;22378278;22475884 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 1999-07-01;2012-12-04 1 0 +3 15644789 T G 15644789 15644789 + Haplotype 25042 RCV000021964 SCV000042634 36379 BTD NM_000060.4:c.933T>G NP_000051.1:p.Ser311Arg NM_000060.4:c.933T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 12359137;20083419;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 +3 15645027 C T 15645027 15645027 + Haplotype 38571 RCV000021985 SCV000042655 46849 BTD NM_001281724.2:c.1177C>T NP_001268653.1:p.Pro393Ser NM_000060.4:c.1171C>T:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Apr 18, 2017 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 11668630;15776412;20301497;22378278;22475884;9396567 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 2 0 +3 15645063 T G 15645063 15645063 + Haplotype 1904 RCV000001981 SCV000022139;SCV000042659 16943 BTD NM_000060.4:c.1207T>G NP_000051.1:p.Phe403Val NM_000060.4:c.1207T>G:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;no assertion criteria provided Apr 29, 2016 OMIM;ARUP Institute,ARUP Laboratories OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY;Biotinidase deficiency 10400129;15776412;20301497;22378278;22475884 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 1999-07-01;2012-12-04 0 0 3 15645127 G C 15645127 15645127 + Haplotype 24975 RCV000021890 SCV000042558 36314 BTD NM_000060.4:c.1271G>C NP_000051.1:p.Cys424Ser NM_000060.4:c.1271G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10400129;15060693;15776412;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 -3 15645186 G C 15645186 15645186 + Haplotype 1904;24994;25016;25030;38568 RCV000001981;RCV000021912;RCV000021936;RCV000021952;RCV000021933 SCV000022139;SCV000042659;SCV000042581;SCV000022135;SCV000042605;SCV000042621;SCV000042602 16939 BTD NM_001281724.2:c.1336G>C NP_001268653.1:p.Asp446His NM_000060.4:c.1330G>C:missense variant Pathogenic/Likely pathogenic pathogenic 7 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 13, 2017 OMIM;ARUP Institute,ARUP Laboratories OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY 10400129;15776412;20301497;22378278;22475884;21228398;7509806;9375914;9654207;16435182;9396567 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 1999-07-01;2012-12-04;2011-01-12 2 0 -3 15645190 G T 15645190 15645190 + Haplotype 38571 RCV000021985 SCV000042655 36396 BTD NM_000060.4:c.1334G>T NP_000051.1:p.Gly445Val NM_000060.4:c.1334G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 11668630;15776412;20301497;22378278;22475884;9396567 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 +3 15645186 G C 15645186 15645186 + Haplotype 1904;24994;25016;25030;38568 RCV000001981;RCV000021912;RCV000021936;RCV000021952;RCV000021933 SCV000022139;SCV000042659;SCV000042581;SCV000022135;SCV000042605;SCV000042621;SCV000042602 16939 BTD NM_001281724.2:c.1336G>C NP_001268653.1:p.Asp446His NM_000060.4:c.1330G>C:missense variant Pathogenic/Likely pathogenic pathogenic 7 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 18, 2017 OMIM;ARUP Institute,ARUP Laboratories OMIM;ARUP Institute,ARUP Laboratories Biotinidase deficiency;BIOTINIDASE DEFICIENCY 10400129;15776412;20301497;22378278;22475884;21228398;7509806;9375914;9654207;16435182;9396567 germline;not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 1999-07-01;2012-12-04;2011-01-12 2 0 +3 15645190 G T 15645190 15645190 + Haplotype 38571 RCV000021985 SCV000042655 36396 BTD NM_000060.4:c.1334G>T NP_000051.1:p.Gly445Val NM_000060.4:c.1334G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 10, 2017 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 11668630;15776412;20301497;22378278;22475884;9396567 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 3 15645217 A C 15645217 15645217 + Haplotype 38565 RCV000021903 SCV000042572 36326 BTD NM_000060.4:c.1361A>C NP_000051.1:p.Tyr454Ser NM_000060.4:c.1361A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 ARUP Institute,ARUP Laboratories ARUP Institute,ARUP Laboratories Biotinidase deficiency;Biotinidase deficiency 10801053;15776412;16435182;20301497;22378278;22475884 not provided GeneReviews:NBK1322;Genetic Alliance:Biotinidase+Deficiency/846;MedGen:C0220754;OMIM:253260;OMIM:609019;Office of Rare Diseases:894;Orphanet:79241;SNOMED CT:8808004 2012-12-04 0 0 -3 33018510 G A 33018510 33018510 - Haplotype 208495 RCV000190508 SCV000245394 205010 GLB1 NM_000404.3:c.1285C>T NP_000395.2:p.Pro429Ser NM_000404.3:c.1285C>T:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided May 13, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Mucopolysaccharidosis, MPS-IV-B 24156116 germline GeneReviews:NBK164500;Genetic Alliance:Morquio+syndrome+B/4877;MedGen:C0086652;OMIM:253010;Orphanet:582;SNOMED CT:238044004 2016-05-13 0 0 +3 33018510 G A 33018510 33018510 - Haplotype 208495 RCV000190508 SCV000245394 205010 GLB1 NM_000404.3:c.1285C>T NP_000395.2:p.Pro429Ser NM_000404.3:c.1285C>T:missense variant Likely benign uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Jul 18, 2017 Mendelics Analise Genomica Mendelics Analise Genomica Mucopolysaccharidosis, MPS-IV-B 24156116 germline GeneReviews:NBK164500;Genetic Alliance:Morquio+syndrome+B/4877;MedGen:C0086652;OMIM:253010;Orphanet:582;SNOMED CT:238044004 2016-05-13 0 0 3 33024297 G T 33024297 33024297 - Haplotype 208495 RCV000190508 SCV000245394 205011 GLB1 NM_000404.3:c.1097C>A NP_000395.2:p.Pro366His NM_000404.3:c.1097C>A:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided May 13, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Mucopolysaccharidosis, MPS-IV-B 24156116 germline GeneReviews:NBK164500;Genetic Alliance:Morquio+syndrome+B/4877;MedGen:C0086652;OMIM:253010;Orphanet:582;SNOMED CT:238044004 2016-05-13 0 0 -3 38551513 G A 38551513 38551513 - Haplotype 440848 RCV000009965 SCV000030186 38446 SCN5A NM_198056.2:c.4859C>T NP_932173.1:p.Thr1620Met NM_000335.4:c.4856C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Apr 10, 2014 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10618304;19251209;20129283;20301690;21321465;21810866;23788249;25356965;27854360;9521325 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2000-01-04 0 0 +3 38551513 G A 38551513 38551513 - Haplotype 440848 RCV000009965 SCV000030186 38446 SCN5A NM_198056.2:c.4859C>T NP_932173.1:p.Thr1620Met NM_000335.4:c.4856C>T:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 28, 2017 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10618304;19251209;20129283;20301690;21321465;21810866;23788249;25356965;27854360;9521325 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2000-01-04 0 0 +3 38562456 G A 38562456 38562456 - Haplotype 440850 RCV000010010 SCV000030231 38448 SCN5A NM_198056.2:c.3922C>T NP_932173.1:p.Leu1308Phe NM_000335.4:c.3919C>T:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 31, 2017 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10532948;15851227;18599870;19841300;20129283;20301690;21810866;23788249;25356965;27854360 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2008-08-15 2 0 3 38566555 G A 38566555 38566555 - Haplotype 440848 RCV000009965 SCV000030186 24410 SCN5A NM_198056.2:c.3694C>T NP_932173.1:p.Arg1232Trp NM_000335.4:c.3691C>T:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Sep 03, 2015 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10618304;19251209;20129283;20301690;21321465;21810866;23788249;25356965;27854360;9521325 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2000-01-04 1 1 -3 38603929 T C 38603929 38603929 - Haplotype 440849 RCV000010000 SCV000030221 38447 SCN5A NM_198056.2:c.1673A>G NP_932173.1:p.His558Arg NM_000335.4:c.1673A>G:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 14, 2016 OMIM OMIM Progressive familial heart block type 1A;PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA 10807545;11463728;11997281;12569159;12639704;14760;18378609;23788249;23994779;27854360 germline Genetic Alliance:Progressive+familial+heart+block+type+1A/5978;Genetics Home Reference:progressive-familial-heart-block;MedGen:C1879286;OMIM:113900;OMIM:600163.0009;OMIM:600163.0017;OMIM:600163.0018;OMIM:600163.0031;Office of Rare Diseases:1093;Orphanet:871 2008-04-15 2 0 +3 38603929 T C 38603929 38603929 - Haplotype 440849 RCV000010000 SCV000030221 38447 SCN5A NM_198056.2:c.1673A>G NP_932173.1:p.His558Arg NM_000335.4:c.1673A>G:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Progressive familial heart block type 1A;PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA 10807545;11463728;11997281;12569159;12639704;14760;18378609;23788249;23994779;27854360 germline Genetic Alliance:Progressive+familial+heart+block+type+1A/5978;Genetics Home Reference:progressive-familial-heart-block;MedGen:C1879286;OMIM:113900;OMIM:600163.0009;OMIM:600163.0017;OMIM:600163.0018;OMIM:600163.0031;Office of Rare Diseases:1093;Orphanet:871 2008-04-15 0 0 3 38604067 G A 38604067 38604067 - Haplotype 440849 RCV000010000 SCV000030221 24437 SCN5A NM_198056.2:c.1535C>T NP_932173.1:p.Thr512Ile NM_198056.2:c.1535C>T:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Mar 27, 2016 OMIM OMIM Progressive familial heart block type 1A;PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA 10807545;11463728;11997281;12569159;12639704;14760;18378609;23788249;23994779;27854360 germline Genetic Alliance:Progressive+familial+heart+block+type+1A/5978;Genetics Home Reference:progressive-familial-heart-block;MedGen:C1879286;OMIM:113900;OMIM:600163.0009;OMIM:600163.0017;OMIM:600163.0018;OMIM:600163.0031;Office of Rare Diseases:1093;Orphanet:871 2008-04-15 1 1 +3 38613752 C T 38613752 38613752 - Haplotype 440850 RCV000010010 SCV000030231 24446 SCN5A NM_001099404.1:c.703+223G>A NP_932173.1:p.Val232Ile NM_000335.4:c.694G>A:missense variant;NM_001099404.1:c.703+223G>A:intron variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Apr 21, 2017 OMIM OMIM Brugada syndrome 1;BRUGADA SYNDROME 1 10532948;15851227;18599870;19841300;20129283;20301690;21810866;23788249;25356965;27854360 germline GeneReviews:NBK1517;MedGen:CN029323;OMIM:601144;Orphanet:130 2008-08-15 1 1 3 39265671 G A 39265671 39265671 - Haplotype 8152 RCV000008629;RCV000008630;RCV000023109 SCV000028837;SCV000028838;SCV000044400 36774 CX3CR1 NM_001171174.1:c.935C>T NP_001164645.1:p.Thr312Met NM_001171174.1:c.935C>T:missense variant - pathogenic;protective;risk factor 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 18, 2015 OMIM OMIM Human immunodeficiency virus type 1, rapid progression to AIDS;HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS;Coronary artery disease, resistance to;MACULAR DEGENERATION, AGE-RELATED, 12, SUSCEPTIBILITY TO 10731151;11264153;12697743;15208270;17909628;23716478 germline MedGen:C4016733;MedGen:C1832288;OMIM:601470.0001 2014-09-05;2015-05-18;2013-12-01 0 0 3 39265765 C T 39265765 39265765 - Haplotype 8152 RCV000008629;RCV000008630;RCV000023109 SCV000028837;SCV000028838;SCV000044400 23191 CX3CR1 NM_001171174.1:c.841G>A NP_001164645.1:p.Val281Ile NM_001171174.1:c.841G>A:missense variant - pathogenic;protective;risk factor 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 18, 2015 OMIM OMIM Human immunodeficiency virus type 1, rapid progression to AIDS;HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS;Coronary artery disease, resistance to;MACULAR DEGENERATION, AGE-RELATED, 12, SUSCEPTIBILITY TO 10731151;11264153;12697743;15208270;17909628;23716478 germline MedGen:C4016733;MedGen:C1832288;OMIM:601470.0001 2014-09-05;2015-05-18;2013-12-01 0 0 3 42691976 T C 42691976 42691976 + Haplotype 228777 RCV000213109 SCV000271889 229063 KLHL40 NM_152393.3:c.1849T>C NP_689606.2:p.Cys617Arg NM_152393.3:c.1849T>C:missense variant Benign uncertain significance 0 0 1 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 05, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-18 2 0 3 42691977 G A 42691977 42691977 + Haplotype 228777 RCV000213109 SCV000271889 229064 KLHL40 NM_152393.3:c.1850G>A NP_689606.2:p.Cys617Tyr NM_152393.3:c.1850G>A:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Dec 18, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-18 0 0 3 49123179 G A 49123179 49123179 - Haplotype 14535 RCV000015634 SCV000035899 38466 LAMB2 NM_002292.3:c.4177C>T NP_002283.3:p.Leu1393Phe NM_002292.3:c.4177C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 01, 2006 OMIM OMIM Nephrotic syndrome, type 5, with or without ocular abnormalities;NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES 16912710 germline Genetic Alliance:Nephrotic+syndrome%2C+type+5%2C+with+or+without+ocular+abnormalities/8989;MedGen:C3280113;OMIM:150325.0006;OMIM:150325.0007;OMIM:150325.0008;OMIM:150325.0009;OMIM:150325.0010;OMIM:150325.0011;OMIM:614199;Orphanet:306507 2006-09-01 0 0 -3 49123216 G T 49123216 49123216 - Haplotype 14535 RCV000015634 SCV000035899 29574 LAMB2 NM_002292.3:c.4140C>A NP_002283.3:p.Asn1380Lys NM_002292.3:c.4140C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 01, 2006 OMIM OMIM Nephrotic syndrome, type 5, with or without ocular abnormalities;NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES 16912710 germline Genetic Alliance:Nephrotic+syndrome%2C+type+5%2C+with+or+without+ocular+abnormalities/8989;MedGen:C3280113;OMIM:150325.0006;OMIM:150325.0007;OMIM:150325.0008;OMIM:150325.0009;OMIM:150325.0010;OMIM:150325.0011;OMIM:614199;Orphanet:306507 2006-09-01 0 0 -3 64157305 C T 64157305 64157305 - Haplotype 30731 RCV000023709 SCV000045000 39689 PRICKLE2 NM_198859.3:c.457G>A NP_942559.1:p.Val153Ile NM_198859.3:c.457G>A:missense variant Likely benign uncertain significance 0 0 1 0 0 criteria provided, single submitter no assertion criteria provided Sep 10, 2015 OMIM OMIM Epilepsy, progressive myoclonic 5;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 21276947;26942291;26942292;632821 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+5/8335;MedGen:CN226157;OMIM:613832;Orphanet:402082 2011-02-11 1 0 +3 49123216 G T 49123216 49123216 - Haplotype 14535 RCV000015634 SCV000035899 29574 LAMB2 NM_002292.3:c.4140C>A NP_002283.3:p.Asn1380Lys NM_002292.3:c.4140C>A:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Apr 25, 2017 OMIM OMIM Nephrotic syndrome, type 5, with or without ocular abnormalities;NEPHROTIC SYNDROME, TYPE 5, WITH OCULAR ABNORMALITIES 16912710 germline Genetic Alliance:Nephrotic+syndrome%2C+type+5%2C+with+or+without+ocular+abnormalities/8989;MedGen:C3280113;OMIM:150325.0006;OMIM:150325.0007;OMIM:150325.0008;OMIM:150325.0009;OMIM:150325.0010;OMIM:150325.0011;OMIM:614199;Orphanet:306507 2006-09-01 1 0 +3 52786965 A T 52786965 52786965 + Haplotype 14798 RCV000015921 SCV000036188 29837 ITIH1 NM_002215.3:c.1754A>T NP_002206.2:p.Glu585Val NM_002215.3:c.1754A>T:missense variant - benign 0 0 0 0 1 no assertion for the individual variant no assertion criteria provided Apr 01, 1995 OMIM OMIM INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM;INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM 7535743 germline OMIM:147270.0001;OMIM:147270.0002;OMIM:147270.0003 1995-04-01 0 0 +3 52786995 A G 52786995 52786995 + Haplotype 14798;14799 RCV000015921;RCV000015922 SCV000036188;SCV000036189 29838 ITIH1 NM_002215.3:c.1784A>G NP_002206.2:p.Gln595Arg NM_002215.3:c.1784A>G:missense variant - benign 0 0 0 0 2 no assertion for the individual variant no assertion criteria provided Apr 01, 1995 OMIM OMIM INTER-ALPHA-TRYPSIN INHIBITOR, HEAVY CHAIN 1 POLYMORPHISM 7535743 germline OMIM:147270.0001;OMIM:147270.0002;OMIM:147270.0003 1995-04-01 0 0 +3 64157305 C T 64157305 64157305 - Haplotype 30731 RCV000023709 SCV000045000 39689 PRICKLE2 NM_198859.3:c.457G>A NP_942559.1:p.Val153Ile NM_198859.3:c.457G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Oct 21, 2016 OMIM OMIM Epilepsy, progressive myoclonic 5;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 21276947;26942291;26942292;632821 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+5/8335;MedGen:CN226157;OMIM:613832;Orphanet:402082 2011-02-11 0 1 3 64157319 C T 64157319 64157319 - Haplotype 30731 RCV000023709 SCV000045000 39688 PRICKLE2 NM_198859.3:c.443G>A NP_942559.1:p.Arg148His NM_198859.3:c.443G>A:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Jan 20, 2015 OMIM OMIM Epilepsy, progressive myoclonic 5;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 21276947;26942291;26942292;632821 germline Genetic Alliance:Epilepsy%2C+progressive+myoclonic+5/8335;MedGen:CN226157;OMIM:613832;Orphanet:402082 2011-02-11 0 0 3 114339010 C T 114339010 114339010 - Haplotype 253111 RCV000239523 SCV000297909 247522 ZBTB20 NM_001164342.2:c.2221G>A NP_001157814.1:p.Gly741Arg NM_001164342.2:c.2221G>A:missense variant;NR_121662.1:n.883G>A:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 08, 2016 OMIM OMIM Primrose syndrome;PRIMROSE SYNDROME 27061120 germline Genetic Alliance:Primrose+syndrome/5964;MedGen:C0796121;OMIM:259050;Office of Rare Diseases:4488 2016-08-08 0 0 3 114339384 G A 114339384 114339384 - Haplotype 253111 RCV000239523 SCV000297909 247523 ZBTB20 NM_001164342.2:c.1847C>T NP_001157814.1:p.Ser616Phe NM_001164342.2:c.1847C>T:missense variant;NR_121662.1:n.509C>T:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 08, 2016 OMIM OMIM Primrose syndrome;PRIMROSE SYNDROME 27061120 germline Genetic Alliance:Primrose+syndrome/5964;MedGen:C0796121;OMIM:259050;Office of Rare Diseases:4488 2016-08-08 0 0 3 124735222 A G 124735222 124735222 + Haplotype 11906 RCV000012681 SCV000032916 26945 UMPS NM_000373.3:c.286A>G NP_000364.1:p.Arg96Gly NM_000373.3:c.286A>G:missense variant;NR_033434.1:n.263-2346A>G:intron variant;NR_033437.1:n.491A>G:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 1997 OMIM OMIM Orotic aciduria;OROTIC ACIDURIA 9042911 germline Genetic Alliance:Orotic+aciduria+hereditary/5431;MedGen:C0268128;OMIM:258900;OMIM:258920;Orphanet:30;SNOMED CT:47641009;SNOMED CT:90093009 1997-03-01 0 0 3 124743926 G C 124743926 124743926 + Haplotype 11906 RCV000012681 SCV000032916 38455 UMPS NM_000373.3:c.1285G>C NP_000364.1:p.Gly429Arg NM_000373.3:c.1285G>C:missense variant;NR_033434.1:n.1237G>C:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 1997 OMIM OMIM Orotic aciduria;OROTIC ACIDURIA 9042911 germline Genetic Alliance:Orotic+aciduria+hereditary/5431;MedGen:C0268128;OMIM:258900;OMIM:258920;Orphanet:30;SNOMED CT:47641009;SNOMED CT:90093009 1997-03-01 0 0 +3 179218304 A C 179218304 179218304 + Haplotype 222469 RCV000144511 SCV000189830 28698 PIK3CA NM_006218.3:c.1634A>C NP_006209.2:p.Glu545Ala NM_006218.3:c.1634A>C:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 31, 2016 OMIM OMIM Cowden syndrome 5;COWDEN SYNDROME 5 23246288 germline MedGen:C3554518;OMIM:615108;Orphanet:201 2013-01-10 0 0 +3 179218328 GT C 179218328 179218329 + Haplotype 222469 RCV000144511 SCV000189830 166223 PIK3CA NM_006218.3:c.1658_1659delGTinsC NP_006209.2:p.Ser553Thrfs NM_006218.3:c.1658_1659delGTinsC:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 10, 2013 OMIM OMIM Cowden syndrome 5;COWDEN SYNDROME 5 23246288 germline MedGen:C3554518;OMIM:615108;Orphanet:201 2013-01-10 0 0 3 193637313 T C 193637313 193637313 + Haplotype 5089 RCV000005394 SCV000025574 101627 OPA1 NM_015560.2:c.870+32T>C NM_015560.2:c.870+32T>C:intron variant Benign risk factor 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Feb 22, 2013 OMIM OMIM Glaucoma, normal tension, susceptibility to;GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO 11810296;12073024;17188046;19581274 germline Genetic Alliance:Glaucoma%2C+normal+tension%2C+susceptibility+to/8467;MedGen:C1847730;OMIM:606657 2010-02-01 1 0 -4 1002767 G C 1002767 1002767 + Haplotype 11911 RCV000012686 SCV000032921 26950 IDUA NM_000203.4:c.1225G>C NP_000194.2:p.Gly409Arg NM_000203.4:c.1225G>C:missense variant;NR_110313.1:n.1313G>C:non-coding transcript variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 08, 2016 OMIM OMIM Hurler syndrome;HURLER SYNDROME 20301341;8328452 germline GeneReviews:NBK1162;Genetic Alliance:Mucopolysaccharidosis+type+I/4912;MedGen:C0086795;OMIM:607014 1993-08-01 0 1 +4 1002767 G C 1002767 1002767 + Haplotype 11911 RCV000012686 SCV000032921 26950 IDUA NM_000203.4:c.1225G>C NP_000194.2:p.Gly409Arg NM_000203.4:c.1225G>C:missense variant;NR_110313.1:n.1313G>C:non-coding transcript variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Sep 08, 2016 OMIM OMIM Hurler syndrome;HURLER SYNDROME 20301341;8328452 germline GeneReviews:NBK1162;Genetic Alliance:Mucopolysaccharidosis+type+I/4912;MedGen:C0086795;OMIM:607014 1993-08-01 1 1 4 1004393 A T 1004393 1004393 + Haplotype 11911 RCV000012686 SCV000032921 38456 IDUA NM_000203.4:c.1962A>T NP_000194.2:p.Ter654Cys NM_000203.4:c.1962A>T:stop lost;NR_110313.1:n.2054A>T:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 01, 1993 OMIM OMIM Hurler syndrome;HURLER SYNDROME 20301341;8328452 germline GeneReviews:NBK1162;Genetic Alliance:Mucopolysaccharidosis+type+I/4912;MedGen:C0086795;OMIM:607014 1993-08-01 0 0 +4 1804384 T G 1804384 1804384 + Haplotype 441276 RCV000017763 SCV000038041 38477 FGFR3 NM_022965.3:c.931-440T>G NP_001156685.1:p.Leu379Arg NM_000142.4:c.1130T>G:missense variant;NM_022965.3:c.931-440T>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 01, 2006 OMIM OMIM Achondroplasia;ACHONDROPLASIA 16411219;20301331 gain of function germline GeneReviews:NBK1152;GeneTests:2789;Genetic Alliance:Achondroplasia/113;Genetic Testing Registry (GTR):GTR000017792;Genetic Testing Registry (GTR):GTR000193973;Genetic Testing Registry (GTR):GTR000226127;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000325183;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000332463;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000500431;Genetic Testing Registry (GTR):GTR000501373;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508972;Genetic Testing Registry (GTR):GTR000510685;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000523319;Genetic Testing Registry (GTR):GTR000529586;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000552209;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;Genetic Testing Registry (GTR):GTR000556521;MedGen:C0001080;OMIM:100800;Office of Rare Diseases:8173;Orphanet:15;SNOMED CT:86268005 2006-02-01 0 0 +4 1804392 G A 1804392 1804392 + Haplotype 441276 RCV000017763 SCV000038041 31366 FGFR3 NM_022965.3:c.931-432G>A NP_001156685.1:p.Gly382Arg NM_000142.4:c.1138G>A:missense variant;NM_022965.3:c.931-432G>A:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 26, 2017 OMIM OMIM Achondroplasia;ACHONDROPLASIA 16411219;20301331 gain of function germline GeneReviews:NBK1152;GeneTests:2789;Genetic Alliance:Achondroplasia/113;Genetic Testing Registry (GTR):GTR000017792;Genetic Testing Registry (GTR):GTR000193973;Genetic Testing Registry (GTR):GTR000226127;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000325183;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000332463;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000500431;Genetic Testing Registry (GTR):GTR000501373;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508972;Genetic Testing Registry (GTR):GTR000510685;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000523319;Genetic Testing Registry (GTR):GTR000529586;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000552209;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;Genetic Testing Registry (GTR):GTR000556521;MedGen:C0001080;OMIM:100800;Office of Rare Diseases:8173;Orphanet:15;SNOMED CT:86268005 2006-02-01 0 0 +4 1805396 A G 1805396 1805396 + Haplotype 441277 RCV000017771 SCV000038050 38478 FGFR3 NM_001163213.1:c.1460A>G NP_001156685.1:p.Gln487Arg NM_000142.4:c.1454A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 2009 OMIM OMIM Thanatophoric dysplasia type 1;THANATOPHORIC DYSPLASIA, TYPE I 19449430;20301540 gain of function germline GeneReviews:NBK1366;Genetic Alliance:Thanatophoric+dysplasia+type+1/7051;Genetic Testing Registry (GTR):GTR000226129;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000327813;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508990;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000530324;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;MedGen:C1868678;OMIM:187600;Office of Rare Diseases:9295;Orphanet:1860;Orphanet:2655 2009-06-01 0 0 +4 1805644 C A 1805644 1805644 + Haplotype 441277 RCV000017771 SCV000038050 31376 FGFR3 NM_001163213.1:c.1626C>A NP_001156685.1:p.Asn542Lys NM_000142.4:c.1620C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided May 16, 2017 OMIM OMIM Thanatophoric dysplasia type 1;THANATOPHORIC DYSPLASIA, TYPE I 19449430;20301540 gain of function germline GeneReviews:NBK1366;Genetic Alliance:Thanatophoric+dysplasia+type+1/7051;Genetic Testing Registry (GTR):GTR000226129;Genetic Testing Registry (GTR):GTR000320916;Genetic Testing Registry (GTR):GTR000327662;Genetic Testing Registry (GTR):GTR000327663;Genetic Testing Registry (GTR):GTR000327813;Genetic Testing Registry (GTR):GTR000333529;Genetic Testing Registry (GTR):GTR000508438;Genetic Testing Registry (GTR):GTR000508854;Genetic Testing Registry (GTR):GTR000508990;Genetic Testing Registry (GTR):GTR000510735;Genetic Testing Registry (GTR):GTR000512698;Genetic Testing Registry (GTR):GTR000514902;Genetic Testing Registry (GTR):GTR000515562;Genetic Testing Registry (GTR):GTR000518899;Genetic Testing Registry (GTR):GTR000522269;Genetic Testing Registry (GTR):GTR000522270;Genetic Testing Registry (GTR):GTR000522271;Genetic Testing Registry (GTR):GTR000522272;Genetic Testing Registry (GTR):GTR000530324;Genetic Testing Registry (GTR):GTR000552289;Genetic Testing Registry (GTR):GTR000553542;MedGen:C1868678;OMIM:187600;Office of Rare Diseases:9295;Orphanet:1860;Orphanet:2655 2009-06-01 2 0 4 70033186 G A 70033186 70033186 + Haplotype 14913 RCV000016048 SCV000036315 38467 HTN3 NM_000200.2:c.122G>A NP_000191.1:p.Arg41Gln NM_000200.2:c.122G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1994 OMIM OMIM HIS2*1/HIS2*2 POLYMORPHISM;HIS2*1/HIS2*2 POLYMORPHISM 7951254 germline OMIM:142702.0001 1994-01-01 0 0 4 70033205 T A 70033205 70033205 + Haplotype 14913 RCV000016048 SCV000036315 29952 HTN3 NM_000200.2:c.141T>A NP_000191.1:p.Tyr47Ter NM_000200.2:c.141T>A:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1994 OMIM OMIM HIS2*1/HIS2*2 POLYMORPHISM;HIS2*1/HIS2*2 POLYMORPHISM 7951254 germline OMIM:142702.0001 1994-01-01 0 0 4 102267916 C G 102267916 102267916 - Haplotype 218898 RCV000203237 SCV000258313 215658 SLC39A8 NM_022154.5:c.1004G>C NP_071437.3:p.Ser335Thr NM_022154.5:c.1004G>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 03, 2015 OMIM OMIM CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn 26637979 germline MedGen:C4225234;OMIM:608732.0001;OMIM:608732.0002;OMIM:608732.0003;OMIM:608732.0004;OMIM:616721 2015-12-03 0 0 @@ -149,78 +167,84 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 5 225434 G C 225434 225434 + Haplotype 190221 RCV000170440 SCV000222878 188048 SDHA NM_004168.3:c.328G>C NP_004159.2:p.Ala110Pro NM_001294332.1:c.313-449G>C:intron variant;NM_004168.3:c.328G>C:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 10, 2015 Mendelics Analise Genomica Mendelics Analise Genomica Mitochondrial complex II deficiency;Mitochondrial complex II deficiency 10746566;22972948 germline Genetic Alliance:Mitochondrial+complex+II+deficiency/4824;MedGen:C1855008;OMIM:252011;Office of Rare Diseases:5053;Orphanet:3208 2015-03-10 0 0 5 240474 A G 240474 240474 + Haplotype 190221 RCV000170440 SCV000222878 188049 SDHA NM_004168.3:c.1549A>G NP_004159.2:p.Lys517Glu NM_004168.3:c.1549A>G:missense variant Uncertain significance likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 10, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Mitochondrial complex II deficiency;Mitochondrial complex II deficiency 10746566;22972948 germline Genetic Alliance:Mitochondrial+complex+II+deficiency/4824;MedGen:C1855008;OMIM:252011;Office of Rare Diseases:5053;Orphanet:3208 2015-03-10 0 0 5 1266519 C T 1266519 1266519 - Haplotype 36946 RCV000030627 SCV000053305 45604 TERT NM_198253.2:c.2599G>A NP_937983.2:p.Val867Met NM_198253.2:c.2599G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 2011 OMIM OMIM Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;PULMONARY FIBROSIS, TELOMERE-RELATED, 1 21483807 germline MedGen:C3553617;OMIM:187270.0001;OMIM:187270.0002;OMIM:187270.0003;OMIM:187270.0004;OMIM:187270.0005;OMIM:187270.0008;OMIM:187270.0009;OMIM:187270.0010;OMIM:187270.0015;OMIM:187270.0016;OMIM:187270.0017;OMIM:614742;Orphanet:88 2011-03-01 0 0 -5 1272196 C T 1272196 1272196 - Haplotype 36946 RCV000030627 SCV000053305 45603 TERT NM_198253.2:c.2371G>A NP_937983.2:p.Val791Ile NM_198253.2:c.2371G>A:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 05, 2017 OMIM OMIM Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;PULMONARY FIBROSIS, TELOMERE-RELATED, 1 21483807 germline MedGen:C3553617;OMIM:187270.0001;OMIM:187270.0002;OMIM:187270.0003;OMIM:187270.0004;OMIM:187270.0005;OMIM:187270.0008;OMIM:187270.0009;OMIM:187270.0010;OMIM:187270.0015;OMIM:187270.0016;OMIM:187270.0017;OMIM:614742;Orphanet:88 2011-03-01 0 0 +5 1272196 C T 1272196 1272196 - Haplotype 36946 RCV000030627 SCV000053305 45603 TERT NM_198253.2:c.2371G>A NP_937983.2:p.Val791Ile NM_198253.2:c.2371G>A:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jul 18, 2017 OMIM OMIM Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1;PULMONARY FIBROSIS, TELOMERE-RELATED, 1 21483807 germline MedGen:C3553617;OMIM:187270.0001;OMIM:187270.0002;OMIM:187270.0003;OMIM:187270.0004;OMIM:187270.0005;OMIM:187270.0008;OMIM:187270.0009;OMIM:187270.0010;OMIM:187270.0015;OMIM:187270.0016;OMIM:187270.0017;OMIM:614742;Orphanet:88 2011-03-01 1 0 5 41853435 A T 41853435 41853435 - Haplotype 8165 RCV000008643 SCV000028852 38389 OXCT1 NM_000436.3:c.398T>A NP_000427.1:p.Val133Glu NM_000436.3:c.398T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1998 OMIM OMIM Succinyl-CoA acetoacetate transferase deficiency;SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY 9671268 germline Genetic Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918;MedGen:C0342792;OMIM:245050;Office of Rare Diseases:5057;Orphanet:832;SNOMED CT:238004006 1998-01-01 0 0 -5 41862656 G A 41862656 41862656 - Haplotype 8165 RCV000008643 SCV000028852 23204 OXCT1 NM_000436.3:c.173C>T NP_000427.1:p.Thr58Met NM_000436.3:c.173C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1998 OMIM OMIM Succinyl-CoA acetoacetate transferase deficiency;SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY 9671268 germline Genetic Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918;MedGen:C0342792;OMIM:245050;Office of Rare Diseases:5057;Orphanet:832;SNOMED CT:238004006 1998-01-01 0 0 -5 112707523 A C 112707523 112707523 + Haplotype 243004 RCV000234986 SCV000292335 244097 APC NM_001127511.2:c.-195A>C NM_001127511.2:c.-195A>C:5 prime UTR variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 12, 2016 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 0 0 -5 112707592 GA G 112707593 112707593 + Haplotype 243004 RCV000234986 SCV000292335 244084 APC NM_001127511.2:c.-125delA NM_001127511.2:c.-125delA:5 prime UTR variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 12, 2016 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 0 0 +5 41862656 G A 41862656 41862656 - Haplotype 8165 RCV000008643 SCV000028852 23204 OXCT1 NM_000436.3:c.173C>T NP_000427.1:p.Thr58Met NM_000436.3:c.173C>T:missense variant Benign pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jul 31, 2017 OMIM OMIM Succinyl-CoA acetoacetate transferase deficiency;SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY 9671268 germline Genetic Alliance:Succinyl-CoA+acetoacetate+transferase+deficiency/6918;MedGen:C0342792;OMIM:245050;Office of Rare Diseases:5057;Orphanet:832;SNOMED CT:238004006 1998-01-01 1 0 +5 112707523 A C 112707523 112707523 + Haplotype 243004 RCV000234986 SCV000292335 244097 APC NM_001127511.2:c.-195A>C NM_001127511.2:c.-195A>C:5 prime UTR variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 12, 2016 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;Genetic Testing Registry (GTR):GTR000558907;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 0 0 +5 112707592 GA G 112707593 112707593 + Haplotype 243004 RCV000234986 SCV000292335 244084 APC NM_001127511.2:c.-125delA NM_001127511.2:c.-125delA:5 prime UTR variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 12, 2016 OMIM OMIM Familial adenomatous polyposis 1;FAMILIAL ADENOMATOUS POLYPOSIS 1 OF PROXIMAL STOMACH 11598466;15604628;20301519;21368914;21813476;23788249;24310308;25356965;25452455;25645574;27087319;27854360 loss of function germline GeneReviews:NBK1345;Genetic Testing Registry (GTR):GTR000172265;Genetic Testing Registry (GTR):GTR000321103;Genetic Testing Registry (GTR):GTR000326160;Genetic Testing Registry (GTR):GTR000330056;Genetic Testing Registry (GTR):GTR000500363;Genetic Testing Registry (GTR):GTR000500599;Genetic Testing Registry (GTR):GTR000500894;Genetic Testing Registry (GTR):GTR000501393;Genetic Testing Registry (GTR):GTR000501394;Genetic Testing Registry (GTR):GTR000501794;Genetic Testing Registry (GTR):GTR000508954;Genetic Testing Registry (GTR):GTR000512300;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000515534;Genetic Testing Registry (GTR):GTR000515885;Genetic Testing Registry (GTR):GTR000515899;Genetic Testing Registry (GTR):GTR000520026;Genetic Testing Registry (GTR):GTR000520047;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520077;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520868;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521915;Genetic Testing Registry (GTR):GTR000522559;Genetic Testing Registry (GTR):GTR000527982;Genetic Testing Registry (GTR):GTR000527984;Genetic Testing Registry (GTR):GTR000528912;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000530028;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552290;Genetic Testing Registry (GTR):GTR000552303;Genetic Testing Registry (GTR):GTR000558907;MedGen:C2713442;OMIM:175100;OMIM:611731.0021;OMIM:611731.0028;OMIM:611731.0034;OMIM:611731.0035;OMIM:611731.0036;OMIM:611731.0038;OMIM:611731.0042;OMIM:611731.0043;OMIM:611731.0049 2016-07-12 0 0 5 136056754 C A 136056754 136056754 + Haplotype 7874 RCV000008323 SCV000028531 22913 TGFBI NM_000358.2:c.1637C>A NP_000349.1:p.Ala546Asp NM_000358.2:c.1637C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 2004 OMIM OMIM Lattice corneal dystrophy Type I;CORNEAL DYSTROPHY, LATTICE TYPE I 15111592;15531312 germline Genetic Alliance:Lattice+corneal+dystrophy+type+1/4117;Genetics Home Reference:lattice-corneal-dystrophy-type-i;MedGen:C1690006;OMIM:122200;Office of Rare Diseases:9678;Orphanet:98964;SNOMED CT:419197009 2004-11-01 0 0 5 136056769 C A 136056769 136056769 + Haplotype 7874 RCV000008323 SCV000028531 38388 TGFBI NM_000358.2:c.1652C>A NP_000349.1:p.Pro551Gln NM_000358.2:c.1652C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 2004 OMIM OMIM Lattice corneal dystrophy Type I;CORNEAL DYSTROPHY, LATTICE TYPE I 15111592;15531312 germline Genetic Alliance:Lattice+corneal+dystrophy+type+1/4117;Genetics Home Reference:lattice-corneal-dystrophy-type-i;MedGen:C1690006;OMIM:122200;Office of Rare Diseases:9678;Orphanet:98964;SNOMED CT:419197009 2004-11-01 0 0 +5 172350405 GC G 172350406 172350406 - Distinct chromosomes 488055 RCV000577875 SCV000583573 15228 SH3PXD2B NM_001017995.2:c.969delG NP_001017995.1:p.Arg324Glyfs NM_001017995.2:c.969delG:frameshift variant Pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided criteria provided, single submitter Jun 01, 2017 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Frank Ter Haar syndrome;Opsismodysplasia 1;20137777;29276006 unknown Genetic Alliance:Frank+Ter+Haar+Syndrome/2915;Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;MedGen:C1855305;OMIM:249420;OMIM:258480;Office of Rare Diseases:4098;Office of Rare Diseases:5138;Orphanet:137834;Orphanet:2746;SNOMED CT:254068007 2017-06-01 0 0 5 177515002 G T 177515002 177515002 - Haplotype 403734 RCV000465916 SCV000541081 390711 DDX41 NM_016222.3:c.712C>A NP_057306.2:p.Pro238Thr NM_016222.3:c.712C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter - Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Acute myeloid leukemia;Myelodysplasia 20963938;22138009;23970018;26944477 germline GeneReviews:NBK47457;Genetic Testing Registry (GTR):GTR000500636;Human Phenotype Ontology:HP:0002863;Human Phenotype Ontology:HP:0004832;Human Phenotype Ontology:HP:0006730;MeSH:D015470;MedGen:C0023467;MedGen:C1851971;OMIM:601626;Orphanet:519;SNOMED CT:17788007 0000-00-00 0 0 5 177515003 C A 177515003 177515003 - Haplotype 403734 RCV000465916 SCV000541081 390712 DDX41 NM_016222.3:c.711G>T NP_057306.2:p.Leu237Phe NM_016222.3:c.711G>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter - Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Acute myeloid leukemia;Myelodysplasia 20963938;22138009;23970018;26944477 germline GeneReviews:NBK47457;Genetic Testing Registry (GTR):GTR000500636;Human Phenotype Ontology:HP:0002863;Human Phenotype Ontology:HP:0004832;Human Phenotype Ontology:HP:0006730;MeSH:D015470;MedGen:C0023467;MedGen:C1851971;OMIM:601626;Orphanet:519;SNOMED CT:17788007 0000-00-00 0 0 6 10874380 A T 10874380 10874380 - Haplotype 375590 RCV000417072 SCV000494617 362401 GCM2 NM_004752.3:c.1136T>A NP_004743.1:p.Leu379Gln NM_004752.3:c.1136T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 10, 2017 OMIM OMIM Hyperparathyroidism 4;HYPERPARATHYROIDISM 4 27745835 germline MedGen:CN240514;OMIM:617343 2017-02-10 0 0 6 10874765 G C 10874765 10874765 - Haplotype 375590 RCV000417072 SCV000494617 362400 GCM2 NM_004752.3:c.751C>G NP_004743.1:p.Gln251Glu NM_004752.3:c.751C>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 10, 2017 OMIM OMIM Hyperparathyroidism 4;HYPERPARATHYROIDISM 4 27745835 germline MedGen:CN240514;OMIM:617343 2017-02-10 0 0 -6 18130687 T C 18130687 18130687 - Haplotype 12722 RCV000013559 SCV000033806 27764 TPMT NM_000367.4:c.719A>G NP_000358.1:p.Tyr240Cys NM_000367.4:c.719A>G:missense variant drug response, other drug response 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 21, 2015 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 0 0 -6 18138997 C T 18138997 18138997 - Haplotype 12722 RCV000013559 SCV000033806 27761 TPMT NM_000367.4:c.460G>A NP_000358.1:p.Ala154Thr NM_000367.4:c.460G>A:missense variant drug response, other drug response 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 11, 2015 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 0 0 +6 18130687 T C 18130687 18130687 - Haplotype 12722 RCV000013559 SCV000033806 27764 TPMT NM_000367.4:c.719A>G NP_000358.1:p.Tyr240Cys NM_000367.4:c.719A>G:missense variant drug response, other drug response 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 21, 2015 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;Genetic Testing Registry (GTR):GTR000558523;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 0 0 +6 18138997 C T 18138997 18138997 - Haplotype 12722 RCV000013559 SCV000033806 27761 TPMT NM_000367.4:c.460G>A NP_000358.1:p.Ala154Thr NM_000367.4:c.460G>A:missense variant drug response, other drug response 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 11, 2015 OMIM OMIM Thiopurine methyltransferase deficiency;THIOPURINES, POOR METABOLISM OF, 1 10208641;12880540;15819814;15967990;8561894;8644731;9177237;9336428;9931345;9931346 loss of function germline Genetic Alliance:Thiopurine+S+methyltranferase+deficiency/54;Genetic Testing Registry (GTR):GTR000299976;Genetic Testing Registry (GTR):GTR000502252;Genetic Testing Registry (GTR):GTR000509706;Genetic Testing Registry (GTR):GTR000520079;Genetic Testing Registry (GTR):GTR000522313;Genetic Testing Registry (GTR):GTR000522314;Genetic Testing Registry (GTR):GTR000525921;Genetic Testing Registry (GTR):GTR000553222;Genetic Testing Registry (GTR):GTR000558523;MedGen:C0342801;OMIM:187680.0001;OMIM:187680.0002;OMIM:187680.0003;OMIM:187680.0004;OMIM:187680.0005;OMIM:187680.0006;OMIM:187680.0007;OMIM:610460;Office of Rare Diseases:5173;Office of Rare Diseases:9153;PharmGKB:PA356;SNOMED CT:238012003 2005-06-28 0 0 6 32039807 T A 32039807 32039807 + Haplotype 31662 RCV000012947 SCV000033191 33507 CYP21A2 NM_000500.7:c.710T>A NP_000491.4:p.Ile237Asn NM_000500.7:c.710T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 01, 2005 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE 15623806;20301350;2249999;2845408 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2005-04-01 0 0 6 32039810 T A 32039810 32039810 + Haplotype 31662;65613 RCV000012947;RCV000055823 SCV000033191;SCV000086807 27212 CYP21A2 NM_000500.7:c.713T>A NP_000491.4:p.Val238Glu NM_000500.7:c.713T>A:missense variant - pathogenic;pathologic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 29, 2013 OMIM;GeneReviews OMIM;GeneReviews 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE;21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 15623806;20301350;2249999;2845408 germline;not provided GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2005-04-01;2013-08-29 0 0 6 32039816 T A 32039816 32039816 + Haplotype 31662;65613 RCV000012947;RCV000055823 SCV000033191;SCV000086807 40032 CYP21A2 NM_000500.7:c.719T>A NP_000491.4:p.Met240Lys NM_000500.7:c.719T>A:missense variant - pathogenic;pathologic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 29, 2013 OMIM;GeneReviews OMIM;GeneReviews 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SALT-WASTING TYPE;21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 15623806;20301350;2249999;2845408 germline;not provided GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2005-04-01;2013-08-29 0 0 6 32040110 G T 32040110 32040110 + Haplotype 12182 RCV000417198 SCV000033208 27190 CYP21A2 NM_000500.7:c.844G>T NP_000491.4:p.Val282Leu NM_000500.7:c.844G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 18, 2017 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY 11093272;12915679;20301350;7629224 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2003-08-01 0 0 6 32040182 G GT 32040189 32040189 + Haplotype 12182 RCV000417198 SCV000033208 76519 CYP21A2 NM_000500.7:c.923dupT NP_000491.4:p.Leu308Phefs NM_000500.7:c.923dupT:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 29, 2013 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY 11093272;12915679;20301350;7629224 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2003-08-01 0 0 -6 32040421 C T 32040421 32040421 + Haplotype 12182 RCV000417198 SCV000033208 27208 CYP21A2 NM_000500.7:c.955C>T NP_000491.4:p.Gln319Ter NM_000500.7:c.955C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Sep 03, 2015 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY 11093272;12915679;20301350;7629224 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2003-08-01 1 0 -6 32040535 C T 32040535 32040535 + Haplotype 12182 RCV000417198 SCV000033208 27191 CYP21A2 NM_000500.7:c.1069C>T NP_000491.4:p.Arg357Trp NM_000500.7:c.1069C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 29, 2013 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY 11093272;12915679;20301350;7629224 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2003-08-01 0 0 +6 32040421 C T 32040421 32040421 + Haplotype 12182 RCV000417198 SCV000033208 27208 CYP21A2 NM_000500.7:c.955C>T NP_000491.4:p.Gln319Ter NM_000500.7:c.955C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Sep 03, 2015 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY 11093272;12915679;20301350;7629224 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2003-08-01 2 0 +6 32040535 C T 32040535 32040535 + Haplotype 12182 RCV000417198 SCV000033208 27191 CYP21A2 NM_000500.7:c.1069C>T NP_000491.4:p.Arg357Trp NM_000500.7:c.1069C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jan 16, 2015 OMIM OMIM 21-hydroxylase deficiency;ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY 11093272;12915679;20301350;7629224 germline GeneReviews:NBK1171;Genetic Alliance:21-Hydroxylase+Deficiency/19;Genetics Home Reference:21-hydroxylase-deficiency;MedGen:C0852654;OMIM:201910;Office of Rare Diseases:5757 2003-08-01 1 0 6 39909922 G A 39909922 39909922 - Haplotype 208497 RCV000190510 SCV000245396 205013 MOCS1 NM_001075098.3:c.1015C>T NP_001068566.1:p.Arg339Trp NM_001075098.3:c.1015C>T:missense variant;NR_033233.1:n.1022C>T:non-coding transcript variant Uncertain significance likely benign 0 0 0 1 0 no assertion for the individual variant no assertion criteria provided Jul 31, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Molybdenum cofactor deficiency, complementation group A 21031595 germline Genetics Home Reference:molybdenum-cofactor-deficiency;MedGen:C1854988;OMIM:252150;Orphanet:833 2016-05-13 0 0 -6 39912909 C T 39912909 39912909 - Haplotype 208497 RCV000190510 SCV000245396 205014 MOCS1 NM_005943.5:c.853G>A NP_005934.2:p.Glu285Lys NM_001075098.3:c.853G>A:missense variant;NR_033233.1:n.860G>A:non-coding transcript variant Uncertain significance likely benign 0 0 0 1 0 no assertion for the individual variant no assertion criteria provided Jul 31, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Molybdenum cofactor deficiency, complementation group A 21031595 germline Genetics Home Reference:molybdenum-cofactor-deficiency;MedGen:C1854988;OMIM:252150;Orphanet:833 2016-05-13 0 0 +6 39912909 C T 39912909 39912909 - Haplotype 208497 RCV000190510 SCV000245396 205014 MOCS1 NM_005943.5:c.853G>A NP_005934.2:p.Glu285Lys NM_001075098.3:c.853G>A:missense variant;NR_033233.1:n.860G>A:non-coding transcript variant Uncertain significance likely benign 0 0 0 1 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 31, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Molybdenum cofactor deficiency, complementation group A 21031595 germline Genetics Home Reference:molybdenum-cofactor-deficiency;MedGen:C1854988;OMIM:252150;Orphanet:833 2016-05-13 2 0 6 49612504 C T 49612504 49612504 - Haplotype 13065 RCV000013940 SCV000034187 38460 RHAG NM_000324.2:c.838G>A NP_000315.2:p.Gly280Arg NM_000324.2:c.838G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1999 OMIM OMIM Rh-null hemolytic anemia, regulator type;RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE 9915949 germline MedGen:C4016364 1999-01-01 0 0 6 49612534 C T 49612534 49612534 - Haplotype 13065 RCV000013940 SCV000034187 28104 RHAG NM_000324.2:c.808G>A NP_000315.2:p.Val270Ile NM_000324.2:c.808G>A:missense variant Benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 18, 2016 OMIM OMIM Rh-null hemolytic anemia, regulator type;RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE 9915949 germline MedGen:C4016364 1999-01-01 0 0 -6 52424111 C A 52424111 52424111 + Haplotype 2067 RCV000002148 SCV000022306 17106 EFHC1 NM_018100.3:c.229C>A NP_060570.2:p.Pro77Thr NM_018100.3:c.229C>A:missense variant;NR_033327.1:n.444C>A:non-coding transcript variant Conflicting interpretations of pathogenicity risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 18, 2017 OMIM OMIM Myoclonic epilepsy, juvenile 1;MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1 12439895;15258581 germline 2004-08-01 0 1 -6 52452776 G A 52452776 52452776 + Haplotype 2067 RCV000002148 SCV000022306 38421 EFHC1 NM_018100.3:c.662G>A NP_060570.2:p.Arg221His NM_018100.3:c.662G>A:missense variant;NR_033327.1:n.877G>A:non-coding transcript variant Conflicting interpretations of pathogenicity risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 18, 2017 OMIM OMIM Myoclonic epilepsy, juvenile 1;MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1 12439895;15258581 germline 2004-08-01 0 1 +6 52424111 C A 52424111 52424111 + Haplotype 2067 RCV000002148 SCV000022306 17106 EFHC1 NM_018100.3:c.229C>A NP_060570.2:p.Pro77Thr NM_018100.3:c.229C>A:missense variant;NR_033327.1:n.444C>A:non-coding transcript variant Conflicting interpretations of pathogenicity risk factor 0 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jul 24, 2017 OMIM OMIM Myoclonic epilepsy, juvenile 1;MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1 12439895;15258581 germline 2004-08-01 1 1 +6 52452776 G A 52452776 52452776 + Haplotype 2067 RCV000002148 SCV000022306 38421 EFHC1 NM_018100.3:c.662G>A NP_060570.2:p.Arg221His NM_018100.3:c.662G>A:missense variant;NR_033327.1:n.877G>A:non-coding transcript variant Conflicting interpretations of pathogenicity risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 24, 2017 OMIM OMIM Myoclonic epilepsy, juvenile 1;MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1 12439895;15258581 germline 2004-08-01 0 1 6 129280071 A C 129280071 129280071 + Haplotype 190218 RCV000170437 SCV000222875 188050 LAMA2 NM_000426.3:c.2461A>C NP_000417.2:p.Thr821Pro NM_000426.3:c.2461A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 08, 2015 Mendelics Analise Genomica Mendelics Analise Genomica Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468;21078917;22420014;22675738 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 2015-04-08 0 0 -6 129502696 T C 129502696 129502696 + Haplotype 190218 RCV000170437 SCV000222875 188051 LAMA2 NM_000426.3:c.8282T>C NP_000417.2:p.Ile2761Thr NM_000426.3:c.8282T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 08, 2015 Mendelics Analise Genomica Mendelics Analise Genomica Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468;21078917;22420014;22675738 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 2015-04-08 0 0 +6 129502696 T C 129502696 129502696 + Haplotype 190218 RCV000170437 SCV000222875 188051 LAMA2 NM_000426.3:c.8282T>C NP_000417.2:p.Ile2761Thr NM_000426.3:c.8282T>C:missense variant Likely benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 14, 2017 Mendelics Analise Genomica Mendelics Analise Genomica Merosin deficient congenital muscular dystrophy;Merosin deficient congenital muscular dystrophy 20301468;21078917;22420014;22675738 germline GeneReviews:NBK1291;Genetic Alliance:Muscular+dystrophy+congenital%2C+merosin+negative/4985;MedGen:C1263858;OMIM:607855;Office of Rare Diseases:3843;Orphanet:258;SNOMED CT:111503008 2015-04-08 0 0 +6 146399690 GGAA G 146399691 146399693 + Haplotype 453266 RCV000030784 SCV000053445 45814 GRM1 NM_001278064.1:c.2652_2654delGAA NP_001264993.1:p.Asn885del - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 25, 2012 OMIM OMIM Spinocerebellar ataxia, autosomal recessive 13;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 22901947 germline MedGen:C3553816;OMIM:614831;Orphanet:324262 2012-09-07 0 0 +6 146399701 T C 146399701 146399701 + Haplotype 453266 RCV000030784 SCV000053445 434131 GRM1 NM_001278064.1:c.2660+2T>C NM_001278064.1:c.2660+2T>C:splice donor variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 25, 2012 OMIM OMIM Spinocerebellar ataxia, autosomal recessive 13;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 22901947 germline MedGen:C3553816;OMIM:614831;Orphanet:324262 2012-09-07 0 0 6 152376443 C T 152376443 152376443 - Haplotype 92124 RCV000077790 SCV000109616 97550 SYNE1 NM_033071.3:c.9283G>A NP_149062.1:p.Ala3095Thr NM_182961.3:c.9262G>A:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Dec 01, 2013 OMIM OMIM Intellectual functioning disability;VARIANT OF UNKNOWN SIGNIFICANCE 21956720;24123876 germline MedGen:C0025362;SNOMED CT:228156007;SNOMED CT:91138005 2013-12-01 0 0 -6 152463486 T C 152463486 152463486 - Haplotype 92124 RCV000077790 SCV000109616 97551 SYNE1 NM_033071.3:c.1985A>G NP_149062.1:p.Gln662Arg NM_182961.3:c.1964A>G:missense variant Benign/Likely benign uncertain significance 0 0 1 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 07, 2017 OMIM OMIM Intellectual functioning disability;VARIANT OF UNKNOWN SIGNIFICANCE 21956720;24123876 germline MedGen:C0025362;SNOMED CT:228156007;SNOMED CT:91138005 2013-12-01 2 0 +6 152463486 T C 152463486 152463486 - Haplotype 92124 RCV000077790 SCV000109616 97551 SYNE1 NM_033071.3:c.1985A>G NP_149062.1:p.Gln662Arg NM_182961.3:c.1964A>G:missense variant Benign/Likely benign uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Jul 07, 2017 OMIM OMIM Intellectual functioning disability;VARIANT OF UNKNOWN SIGNIFICANCE 21956720;24123876 germline MedGen:C0025362;SNOMED CT:228156007;SNOMED CT:91138005 2013-12-01 0 0 7 87443683 G C 87443683 87443683 - Haplotype 217883 RCV000201938 SCV000256879 214536 ABCB4 NM_018849.2:c.1210C>G NP_061337.1:p.Pro404Ala NM_018849.2:c.1210C>G:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 25, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Progressive familial intrahepatic cholestasis 3 17726488;9419367 germline Genetic Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351;Genetics Home Reference:progressive-familial-intrahepatic-cholestasis;MedGen:C1865643;OMIM:602347;Office of Rare Diseases:1289;Orphanet:79305 2014-07-25 0 0 7 87453049 C T 87453049 87453049 - Haplotype 217883 RCV000201938 SCV000256879 214537 ABCB4 NM_018849.2:c.431G>A NP_061337.1:p.Arg144Gln NM_018849.2:c.431G>A:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 25, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Progressive familial intrahepatic cholestasis 3 17726488;9419367 germline Genetic Alliance:Cholestasis%2C+Progressive+Familial+Intrahepatic+3/1351;Genetics Home Reference:progressive-familial-intrahepatic-cholestasis;MedGen:C1865643;OMIM:602347;Office of Rare Diseases:1289;Orphanet:79305 2014-07-25 0 0 -7 107695963 A C 107695963 107695963 + Haplotype 4816 RCV000005085 SCV000025261 38434 SLC26A4 NM_000441.1:c.1468A>C NP_000432.1:p.Ile490Leu NM_000441.1:c.1468A>C:missense variant Likely benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 2015 OMIM OMIM Enlarged vestibular aqueduct syndrome;DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 18310264;20301607;20301640;9500541 germline GeneReviews:NBK1467;Genetic Alliance:Enlarged+Vestibular+Aqueduct+Syndrome/2542;Genetic Testing Registry (GTR):GTR000500213;MedGen:C1863752;OMIM:600791;OMIM:601093.0001;OMIM:601093.0002;OMIM:602208.0008;OMIM:602208.0009;OMIM:605646.0004;OMIM:605646.0009;OMIM:605646.0010;OMIM:605646.0011;OMIM:605646.0012;OMIM:605646.0013;OMIM:605646.0014;OMIM:605646.0015;OMIM:605646.0027;OMIM:605646.0028;OMIM:605646.0029;OMIM:605646.0030;OMIM:605646.0031;Office of Rare Diseases:8651;Orphanet:90636 2008-07-01 0 0 +7 107695963 A C 107695963 107695963 + Haplotype 4816 RCV000005085 SCV000025261 38434 SLC26A4 NM_000441.1:c.1468A>C NP_000432.1:p.Ile490Leu NM_000441.1:c.1468A>C:missense variant Likely benign pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jul 01, 2015 OMIM OMIM Enlarged vestibular aqueduct syndrome;DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 18310264;20301607;20301640;9500541 germline GeneReviews:NBK1467;Genetic Alliance:Enlarged+Vestibular+Aqueduct+Syndrome/2542;Genetic Testing Registry (GTR):GTR000500213;MedGen:C1863752;OMIM:600791;OMIM:601093.0001;OMIM:601093.0002;OMIM:602208.0008;OMIM:602208.0009;OMIM:605646.0004;OMIM:605646.0009;OMIM:605646.0010;OMIM:605646.0011;OMIM:605646.0012;OMIM:605646.0013;OMIM:605646.0014;OMIM:605646.0015;OMIM:605646.0027;OMIM:605646.0028;OMIM:605646.0029;OMIM:605646.0030;OMIM:605646.0031;Office of Rare Diseases:8651;Orphanet:90636 2008-07-01 1 0 7 107695984 G A 107695984 107695984 + Haplotype 4816 RCV000005085 SCV000025261 19855 SLC26A4 NM_000441.1:c.1489G>A NP_000432.1:p.Gly497Ser NM_000441.1:c.1489G>A:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 30, 2017 OMIM OMIM Enlarged vestibular aqueduct syndrome;DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT 18310264;20301607;20301640;9500541 germline GeneReviews:NBK1467;Genetic Alliance:Enlarged+Vestibular+Aqueduct+Syndrome/2542;Genetic Testing Registry (GTR):GTR000500213;MedGen:C1863752;OMIM:600791;OMIM:601093.0001;OMIM:601093.0002;OMIM:602208.0008;OMIM:602208.0009;OMIM:605646.0004;OMIM:605646.0009;OMIM:605646.0010;OMIM:605646.0011;OMIM:605646.0012;OMIM:605646.0013;OMIM:605646.0014;OMIM:605646.0015;OMIM:605646.0027;OMIM:605646.0028;OMIM:605646.0029;OMIM:605646.0030;OMIM:605646.0031;Office of Rare Diseases:8651;Orphanet:90636 2008-07-01 2 0 -7 117530975 G A 117530975 117530975 + Haplotype 209047 RCV000190992 SCV000245925 22148 CFTR NM_000492.3:c.350G>A NP_000483.3:p.Arg117His NM_000492.3:c.350G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 practice guideline reviewed by expert panel May 22, 2017 CFTR2 CFTR2 Cystic fibrosis;Cystic fibrosis 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;23974870;24014130;25431289;25981758 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 0000-00-00 4 0 -7 117540305 C A 117540305 117540305 + Haplotype 40200 RCV000007589 SCV000027790 22208 CFTR NM_000492.3:c.1075C>A NP_000483.3:p.Gln359Lys NM_000492.3:c.1075C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1993 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 0 0 -7 117540309 C A 117540309 117540309 + Haplotype 40200 RCV000007589 SCV000027790 38441 CFTR NM_000492.3:c.1079C>A NP_000483.3:p.Thr360Lys NM_000492.3:c.1079C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1993 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 0 0 -7 117603609 C T 117603609 117603609 + Haplotype 7239 RCV000007661 SCV000027862 22244 CFTR NM_000492.3:c.2735C>T NP_000483.3:p.Ser912Leu NM_000492.3:c.2735C>T:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Feb 01, 2017 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 2 0 -7 117642451 G T 117642451 117642451 + Haplotype 7239 RCV000007661 SCV000027862 22278 CFTR NM_000492.3:c.3731G>T NP_000483.3:p.Gly1244Val NM_000492.3:c.3731G>T:missense variant not provided pathogenic 1 0 0 0 0 no assertion provided no assertion criteria provided Feb 01, 2013 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 0 0 +7 117530975 G A 117530975 117530975 + Haplotype 209047 RCV000190992 SCV000245925 22148 CFTR NM_000492.3:c.350G>A NP_000483.3:p.Arg117His NM_000492.3:c.350G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 practice guideline reviewed by expert panel Oct 31, 2017 CFTR2 CFTR2 Cystic fibrosis;Cystic fibrosis 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;23974870;24014130;25431289;25981758 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 0000-00-00 4 0 +7 117540305 C A 117540305 117540305 + Haplotype 40200 RCV000007589 SCV000027790 22208 CFTR NM_000492.3:c.1075C>A NP_000483.3:p.Gln359Lys NM_000492.3:c.1075C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1993 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 0 0 +7 117540309 C A 117540309 117540309 + Haplotype 40200 RCV000007589 SCV000027790 38441 CFTR NM_000492.3:c.1079C>A NP_000483.3:p.Thr360Lys NM_000492.3:c.1079C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1993 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;7679367 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 1993-01-01 0 0 +7 117603609 C T 117603609 117603609 + Haplotype 7239 RCV000007661 SCV000027862 22244 CFTR NM_000492.3:c.2735C>T NP_000483.3:p.Ser912Leu NM_000492.3:c.2735C>T:missense variant Benign/Likely benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 03, 2017 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 2 0 +7 117642451 G T 117642451 117642451 + Haplotype 7239 RCV000007661 SCV000027862 22278 CFTR NM_000492.3:c.3731G>T NP_000483.3:p.Gly1244Val NM_000492.3:c.3731G>T:missense variant not provided pathogenic 1 0 0 0 0 no assertion provided no assertion criteria provided May 01, 2005 OMIM OMIM Cystic fibrosis;CYSTIC FIBROSIS 11280952;12394352;15744523;15789152;17761616;19888064;19914443;19914445;20301428;20605539;20675678;21422883;21938795;22475884;24014130;25431289;25981758;8528204 More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function germline GeneReviews:NBK1250;Genetic Alliance:Cystic+Fibrosis/2071;Genetic Testing Registry (GTR):GTR000004176;Genetic Testing Registry (GTR):GTR000005248;Genetic Testing Registry (GTR):GTR000025280;Genetic Testing Registry (GTR):GTR000028916;Genetic Testing Registry (GTR):GTR000074114;Genetic Testing Registry (GTR):GTR000194834;Genetic Testing Registry (GTR):GTR000209428;Genetic Testing Registry (GTR):GTR000226639;Genetic Testing Registry (GTR):GTR000277984;Genetic Testing Registry (GTR):GTR000288561;Genetic Testing Registry (GTR):GTR000320929;Genetic Testing Registry (GTR):GTR000324499;Genetic Testing Registry (GTR):GTR000328569;Genetic Testing Registry (GTR):GTR000330969;Genetic Testing Registry (GTR):GTR000332363;Genetic Testing Registry (GTR):GTR000501120;Genetic Testing Registry (GTR):GTR000501211;Genetic Testing Registry (GTR):GTR000501918;Genetic Testing Registry (GTR):GTR000501920;Genetic Testing Registry (GTR):GTR000501921;Genetic Testing Registry (GTR):GTR000502992;Genetic Testing Registry (GTR):GTR000505699;Genetic Testing Registry (GTR):GTR000506511;Genetic Testing Registry (GTR):GTR000507003;Genetic Testing Registry (GTR):GTR000507006;Genetic Testing Registry (GTR):GTR000507010;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507950;Genetic Testing Registry (GTR):GTR000508782;Genetic Testing Registry (GTR):GTR000508810;Genetic Testing Registry (GTR):GTR000508811;Genetic Testing Registry (GTR):GTR000508812;Genetic Testing Registry (GTR):GTR000508889;Genetic Testing Registry (GTR):GTR000508890;Genetic Testing Registry (GTR):GTR000508893;Genetic Testing Registry (GTR):GTR000508894;Genetic Testing Registry (GTR):GTR000514611;Genetic Testing Registry (GTR):GTR000515757;Genetic Testing Registry (GTR):GTR000515758;Genetic Testing Registry (GTR):GTR000520059;Genetic Testing Registry (GTR):GTR000521501;Genetic Testing Registry (GTR):GTR000521905;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528606;Genetic Testing Registry (GTR):GTR000529460;Genetic Testing Registry (GTR):GTR000530118;Genetic Testing Registry (GTR):GTR000553017;Genetic Testing Registry (GTR):GTR000556535;Genetic Testing Registry (GTR):GTR000556536;Genetic Testing Registry (GTR):GTR000558875;Genetic Testing Registry (GTR):GTR000558928;MedGen:C0010674;OMIM:219700;Office of Rare Diseases:6233;Orphanet:586;SNOMED CT:190905008 2005-05-01 0 0 8 1771262 C T 1771262 1771262 + Haplotype 217887 RCV000201947 SCV000256883 214538 CLN8 NM_018941.3:c.208C>T NP_061764.2:p.Arg70Cys NM_018941.3:c.208C>T:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 18, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 8 16570191;20301601 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 2014-08-18 0 0 -8 1780498 C G 1780498 1780498 + Haplotype 217887 RCV000201947 SCV000256883 106601 CLN8 NM_018941.3:c.792C>G NP_061764.2:p.Asn264Lys NM_018941.3:c.792C>G:missense variant Pathogenic likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 18, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 8 16570191;20301601 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 2014-08-18 0 0 +8 1780498 C G 1780498 1780498 + Haplotype 217887 RCV000201947 SCV000256883 106601 CLN8 NM_018941.3:c.792C>G NP_061764.2:p.Asn264Lys NM_018941.3:c.792C>G:missense variant Pathogenic likely pathogenic 0 1 0 0 0 no assertion criteria provided no assertion criteria provided Aug 18, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Ceroid lipofuscinosis neuronal 8 16570191;20301601 germline GeneReviews:NBK1428;MedGen:C1838570;OMIM:600143;Office of Rare Diseases:4010;Orphanet:168491;Orphanet:228354;Orphanet:79264 2014-08-18 0 0 8 31064934 A T 31064934 31064934 + Haplotype 5453 RCV000005786 SCV000025968 20492 WRN NM_000553.5:c.375A>T NP_000544.2:p.Lys125Asn NM_000553.5:c.375A>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 2006 OMIM OMIM Werner syndrome;WERNER SYNDROME 16673358;20301687;22258520 germline GeneReviews:NBK1514;Genetic Alliance:Werner%27s+syndrome/7471;Genetics Home Reference:werner-syndrome;MedGen:C0043119;OMIM:277700;Office of Rare Diseases:7885;Orphanet:902;SNOMED CT:51626007 2006-06-01 0 0 8 31064962 A G 31064962 31064962 + Haplotype 5453 RCV000005786 SCV000025968 38386 WRN NM_000553.5:c.403A>G NP_000544.2:p.Lys135Glu NM_000553.5:c.403A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 2006 OMIM OMIM Werner syndrome;WERNER SYNDROME 16673358;20301687;22258520 germline GeneReviews:NBK1514;Genetic Alliance:Werner%27s+syndrome/7471;Genetics Home Reference:werner-syndrome;MedGen:C0043119;OMIM:277700;Office of Rare Diseases:7885;Orphanet:902;SNOMED CT:51626007 2006-06-01 0 0 8 38414166 G C 38414166 38414166 - Haplotype 16292 RCV000030930 SCV000037962 38475 FGFR1 NM_023110.2:c.2172C>G NP_075598.2:p.Asn724Lys NM_023110.2:c.2172C>G:missense variant - risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 18, 2006 OMIM OMIM Kallmann syndrome 2;HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO 16606836;20301509 loss of function germline Endocrinology Clinic, Seth G.S. Medical College:FGFR1sn_4;GeneReviews:NBK1334;Genetic Alliance:Kallmann+syndrome+2/3947;Genetic Testing Registry (GTR):GTR000508944;Genetic Testing Registry (GTR):GTR000511562;Genetic Testing Registry (GTR):GTR000511608;Genetic Testing Registry (GTR):GTR000511609;Genetic Testing Registry (GTR):GTR000511610;Genetic Testing Registry (GTR):GTR000511611;Genetic Testing Registry (GTR):GTR000511612;Genetic Testing Registry (GTR):GTR000511613;Genetic Testing Registry (GTR):GTR000512869;Genetic Testing Registry (GTR):GTR000556729;Genetic Testing Registry (GTR):GTR000556731;Genetic Testing Registry (GTR):GTR000558347;MedGen:C1563720;OMIM:136350.0004;OMIM:136350.0013;OMIM:136350.0014;OMIM:136350.0015;OMIM:136350.0016;OMIM:136350.0020;OMIM:136350.0023;OMIM:136350.0024;OMIM:136350.0025;OMIM:147950;Office of Rare Diseases:3070;Orphanet:478 2006-04-18 0 0 8 38414173 G T 38414173 38414173 - Haplotype 16292 RCV000030930 SCV000037962 31331 FGFR1 NM_023110.2:c.2165C>A NP_075598.2:p.Pro722His NM_023110.2:c.2165C>A:missense variant - risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 18, 2006 OMIM OMIM Kallmann syndrome 2;HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO 16606836;20301509 loss of function germline Endocrinology Clinic, Seth G.S. Medical College:FGFR1sn_4;GeneReviews:NBK1334;Genetic Alliance:Kallmann+syndrome+2/3947;Genetic Testing Registry (GTR):GTR000508944;Genetic Testing Registry (GTR):GTR000511562;Genetic Testing Registry (GTR):GTR000511608;Genetic Testing Registry (GTR):GTR000511609;Genetic Testing Registry (GTR):GTR000511610;Genetic Testing Registry (GTR):GTR000511611;Genetic Testing Registry (GTR):GTR000511612;Genetic Testing Registry (GTR):GTR000511613;Genetic Testing Registry (GTR):GTR000512869;Genetic Testing Registry (GTR):GTR000556729;Genetic Testing Registry (GTR):GTR000556731;Genetic Testing Registry (GTR):GTR000558347;MedGen:C1563720;OMIM:136350.0004;OMIM:136350.0013;OMIM:136350.0014;OMIM:136350.0015;OMIM:136350.0016;OMIM:136350.0020;OMIM:136350.0023;OMIM:136350.0024;OMIM:136350.0025;OMIM:147950;Office of Rare Diseases:3070;Orphanet:478 2006-04-18 0 0 -8 142912850 A G 142912850 142912850 - Haplotype 16876;16877 RCV000018372;RCV000018373 SCV000038654;SCV000038655 31916 CYP11B2 NM_000498.3:c.1157T>C NP_000489.3:p.Val386Ala NM_000498.3:c.1157T>C:missense variant Benign pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Corticosterone methyloxidase type 2 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY;Corticosterone methyloxidase type 1 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY 1346492;1594605;3262827;4121586;830445;838841;9814506 loss of function germline Genetic Alliance:Corticosterone+methyloxidase+type+2+deficiency/8102;Genetic Testing Registry (GTR):GTR000500407;Genetics Home Reference:corticosterone-methyloxidase-deficiency;MedGen:C3463917;OMIM:610600;Orphanet:427;Genetic Alliance:Corticosterone+methyloxidase+type+1+deficiency/8101;Genetic Testing Registry (GTR):GTR000507687;MedGen:CN074214;OMIM:203400;Office of Rare Diseases:5660 1992-06-01;1998-11-01 0 0 +8 142912850 A G 142912850 142912850 - Haplotype 16876;16877 RCV000018372;RCV000018373 SCV000038654;SCV000038655 31916 CYP11B2 NM_000498.3:c.1157T>C NP_000489.3:p.Val386Ala NM_000498.3:c.1157T>C:missense variant Benign pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 14, 2016 OMIM OMIM Corticosterone methyloxidase type 2 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY;Corticosterone methyloxidase type 1 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY 1346492;1594605;3262827;4121586;830445;838841;9814506 loss of function germline Genetic Alliance:Corticosterone+methyloxidase+type+2+deficiency/8102;Genetic Testing Registry (GTR):GTR000500407;Genetics Home Reference:corticosterone-methyloxidase-deficiency;MedGen:C3463917;OMIM:610600;Orphanet:427;Genetic Alliance:Corticosterone+methyloxidase+type+1+deficiency/8101;Genetic Testing Registry (GTR):GTR000507687;MedGen:CN074214;OMIM:203400;Office of Rare Diseases:5660 1992-06-01;1998-11-01 1 0 8 142915047 T G 142915047 142915047 - Haplotype 16877 RCV000018373 SCV000038655 38484 CYP11B2 NM_000498.3:c.594A>C NP_000489.3:p.Glu198Asp NM_000498.3:c.594A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 1998 OMIM OMIM Corticosterone methyloxidase type 1 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY 9814506 loss of function germline Genetic Alliance:Corticosterone+methyloxidase+type+1+deficiency/8101;Genetic Testing Registry (GTR):GTR000500407;Genetic Testing Registry (GTR):GTR000507687;Genetics Home Reference:corticosterone-methyloxidase-deficiency;MedGen:CN074214;OMIM:203400;Office of Rare Diseases:5660;Orphanet:427 1998-11-01 0 0 8 142915100 G A 142915100 142915100 - Haplotype 16876 RCV000018372 SCV000038654 31915 CYP11B2 NM_000498.3:c.541C>T NP_000489.3:p.Arg181Trp NM_000498.3:c.541C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 1992 OMIM OMIM Corticosterone methyloxidase type 2 deficiency;CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY 1346492;1594605;3262827;4121586;830445;838841 loss of function germline Genetic Alliance:Corticosterone+methyloxidase+type+2+deficiency/8102;Genetic Testing Registry (GTR):GTR000500407;Genetics Home Reference:corticosterone-methyloxidase-deficiency;MedGen:C3463917;OMIM:610600;Orphanet:427 1992-06-01 0 0 9 2115860 G C 2115860 2115860 + Haplotype 374221 RCV000415335 SCV000493071 361134 SMARCA2 NM_003070.4:c.3495G>C NP_003061.3:p.Gln1165His NM_003070.4:c.3495G>C:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided - Laboratory of Molecular Genetics,CHU RENNES Laboratory of Molecular Genetics,CHU RENNES Nicolaides-Baraitser syndrome;Nicolaides Baraitser syndrome 26468571 de novo GeneReviews:NBK321516;Genetic Alliance:Nicolaides+Baraitser+syndrome/5221;Genetics Home Reference:nicolaides-baraitser-syndrome;MedGen:C1303073;OMIM:601358;Orphanet:3051;SNOMED CT:401046009 0000-00-00 0 0 9 2123873 G A 2123873 2123873 + Haplotype 374221 RCV000415335 SCV000493071 361135 SMARCA2 NM_003070.4:c.3917G>A NP_003061.3:p.Arg1306Lys NM_003070.4:c.3917G>A:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided - Laboratory of Molecular Genetics,CHU RENNES Laboratory of Molecular Genetics,CHU RENNES Nicolaides-Baraitser syndrome;Nicolaides Baraitser syndrome 26468571 de novo GeneReviews:NBK321516;Genetic Alliance:Nicolaides+Baraitser+syndrome/5221;Genetics Home Reference:nicolaides-baraitser-syndrome;MedGen:C1303073;OMIM:601358;Orphanet:3051;SNOMED CT:401046009 0000-00-00 0 0 -9 34646575 CCAGT C 34646586 34646589 + Haplotype 140570 RCV000128642 SCV000148002 36445 GALT NM_000155.3:c.-67-52_-67-49delGTCA NM_000155.3:c.-119_-116del:2KB upstream variant;NM_000155.3:c.-67-52_-67-49delGTCA:intron variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided May 05, 2017 GeneReviews GeneReviews Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 10408771;10424825;10649501;11216901;11286503;11754113;15633893;15841485;16838075;19224951;2011574;20301691;22475884;25473725 germline GeneReviews:NBK1518;Genetic Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206;MedGen:C0268151;OMIM:230400;Office of Rare Diseases:2424;Orphanet:352;Orphanet:79239;SNOMED CT:124354006 2014-04-03 1 1 -9 34648421 C T 34648421 34648421 + Haplotype 3620 RCV000003804 SCV000023969 18659 GALT NM_000155.3:c.652C>T NP_000146.2:p.Leu218= NM_000155.3:c.652C>T:synonymous variant Benign/Likely benign, other benign 0 0 0 0 1 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 14, 2016 OMIM OMIM GALT POLYMORPHISM (LOS ANGELES, D1);GALT POLYMORPHISM (LOS ANGELES, D1) 10408771;10424825;19224951;2011574;4759900;8522334;9012409 germline OMIM:606999.0012 2009-05-01 2 0 -9 34649445 A G 34649445 34649445 + Haplotype 140570;3620 RCV000128642;RCV000003804 SCV000148002;SCV000023969 18652 GALT NM_000155.3:c.940A>G NP_000146.2:p.Asn314Asp NM_000155.3:c.940A>G:missense variant Conflicting interpretations of pathogenicity, other pathogenic;benign 1 0 0 0 1 criteria provided, conflicting interpretations no assertion criteria provided Jun 09, 2017 GeneReviews;OMIM GeneReviews;OMIM Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;GALT POLYMORPHISM (LOS ANGELES, D1) 10408771;10424825;10649501;11216901;11286503;11754113;15633893;15841485;16838075;19224951;2011574;20301691;22475884;25473725;4759900;8522334;9012409 germline GeneReviews:NBK1518;Genetic Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206;MedGen:C0268151;OMIM:230400;Office of Rare Diseases:2424;Orphanet:352;Orphanet:79239;SNOMED CT:124354006;OMIM:606999.0012 2014-04-03;2009-05-01 1 1 +9 34646575 CCAGT C 34646586 34646589 + Haplotype 140570 RCV000128642 SCV000148002 36445 GALT NM_000155.3:c.-67-52_-67-49delGTCA NM_000155.3:c.-119_-116del:2KB upstream variant;NM_000155.3:c.-67-52_-67-49delGTCA:intron variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Nov 09, 2017 GeneReviews GeneReviews Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 10408771;10424825;10649501;11216901;11286503;11754113;15633893;15841485;16838075;19224951;2011574;20301691;22475884;25473725 germline GeneReviews:NBK1518;Genetic Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206;MedGen:C0268151;OMIM:230400;Office of Rare Diseases:2424;Orphanet:352;Orphanet:79239;SNOMED CT:124354006 2014-04-03 1 1 +9 34648421 C T 34648421 34648421 + Haplotype 3620 RCV000003804 SCV000023969 18659 GALT NM_000155.3:c.652C>T NP_000146.2:p.Leu218= NM_000155.3:c.652C>T:synonymous variant Benign/Likely benign, other benign 0 0 0 0 1 criteria provided, multiple submitters, no conflicts no assertion criteria provided May 08, 2017 OMIM OMIM GALT POLYMORPHISM (LOS ANGELES, D1);GALT POLYMORPHISM (LOS ANGELES, D1) 10408771;10424825;19224951;2011574;4759900;8522334;9012409 germline OMIM:606999.0012 2009-05-01 2 0 +9 34649445 A G 34649445 34649445 + Haplotype 140570;3620 RCV000128642;RCV000003804 SCV000148002;SCV000023969 18652 GALT NM_000155.3:c.940A>G NP_000146.2:p.Asn314Asp NM_000155.3:c.940A>G:missense variant Conflicting interpretations of pathogenicity, other pathogenic;benign 1 0 0 0 1 criteria provided, conflicting interpretations no assertion criteria provided Jul 26, 2017 GeneReviews;OMIM GeneReviews;OMIM Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase;GALT POLYMORPHISM (LOS ANGELES, D1) 10408771;10424825;10649501;11216901;11286503;11754113;15633893;15841485;16838075;19224951;2011574;20301691;22475884;25473725;4759900;8522334;9012409 germline GeneReviews:NBK1518;Genetic Alliance:Deficiency+of+UTP-hexose-1-phosphate+uridylyltransferase/8206;MedGen:C0268151;OMIM:230400;Office of Rare Diseases:2424;Orphanet:352;Orphanet:79239;SNOMED CT:124354006;OMIM:606999.0012 2014-04-03;2009-05-01 1 1 9 37424830 TCC T 37424832 37424833 + Haplotype 204246 RCV000186453 SCV000239808 200618 GRHPR NM_012203.1:c.84-13_84-12delCC NM_012203.1:c.84-13_84-12delCC:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 27, 2014 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type II;Primary hyperoxaluria, type II 14635115;20301742 loss of function germline GeneReviews:NBK2692;Genetic Alliance:Primary+hyperoxaluria+type+2/5948;Genetic Testing Registry (GTR):GTR000118462;Genetic Testing Registry (GTR):GTR000507682;Genetic Testing Registry (GTR):GTR000522211;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268165;OMIM:260000;Office of Rare Diseases:2836;Orphanet:416;Orphanet:93599;SNOMED CT:40951006 2014-11-27 0 0 9 37424836 TCCCC T 37424837 37424840 + Haplotype 204246 RCV000186453 SCV000239808 200619 GRHPR NM_012203.1:c.84-8_84-5delCCCC NM_012203.1:c.84-8_84-5delCCCC:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 27, 2014 Clinical Biochemistry Laboratory,Health Services Laboratory Clinical Biochemistry Laboratory,Health Services Laboratory Primary hyperoxaluria, type II;Primary hyperoxaluria, type II 14635115;20301742 loss of function germline GeneReviews:NBK2692;Genetic Alliance:Primary+hyperoxaluria+type+2/5948;Genetic Testing Registry (GTR):GTR000118462;Genetic Testing Registry (GTR):GTR000507682;Genetic Testing Registry (GTR):GTR000522211;Genetic Testing Registry (GTR):GTR000528276;MedGen:C0268165;OMIM:260000;Office of Rare Diseases:2836;Orphanet:416;Orphanet:93599;SNOMED CT:40951006 2014-11-27 0 0 -9 98578034 T C 98578034 98578034 - Haplotype 3331 RCV000003495 SCV000023653 18370 GABBR2 NM_005458.7:c.360A>G NP_005449.5:p.Ala120= NM_005458.7:c.360A>G:synonymous variant - risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 09, 2010 OMIM OMIM Tobacco addiction, susceptibility to;NICOTINE DEPENDENCE, SUSCEPTIBILITY TO 15759211 germline Genetic Alliance:Tobacco+addiction%2C+susceptibility+to/9410;MedGen:C1861063;OMIM:188890;OMIM:607340.0001;OMIM:607340.0002 2010-06-09 0 0 +9 98578034 T C 98578034 98578034 - Haplotype 3331 RCV000003495 SCV000023653 18370 GABBR2 NM_005458.7:c.360A>G NP_005449.5:p.Ala120= NM_005458.7:c.360A>G:synonymous variant - risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 2005 OMIM OMIM Tobacco addiction, susceptibility to;NICOTINE DEPENDENCE, SUSCEPTIBILITY TO 15759211 germline Genetic Alliance:Tobacco+addiction%2C+susceptibility+to/9410;MedGen:C1861063;OMIM:188890;OMIM:607340.0001;OMIM:607340.0002 2005-05-01 0 0 9 124500574 G A 124500574 124500574 - Haplotype 12809 RCV000013657;RCV000022775 SCV000033904;SCV000044064 38458 NR5A1 NM_004959.4:c.386C>T NP_004950.2:p.Pro129Leu NM_004959.4:c.386C>T:missense variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 08, 2010 OMIM OMIM Premature ovarian failure 7;PREMATURE OVARIAN FAILURE 7;Spermatogenic failure 8 19246354;20887963 germline Genetic Alliance:Premature+ovarian+failure+7/9153;MedGen:C2751825;OMIM:612964;Genetic Alliance:Spermatogenic+failure+8/9327;MedGen:C3151406;OMIM:613957 2010-10-08 0 0 9 124500592 C G 124500592 124500592 - Haplotype 12809 RCV000013657;RCV000022775 SCV000033904;SCV000044064 27848 NR5A1 NM_004959.4:c.368G>C NP_004950.2:p.Gly123Ala NM_004959.4:c.368G>C:missense variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 08, 2010 OMIM OMIM Premature ovarian failure 7;PREMATURE OVARIAN FAILURE 7;Spermatogenic failure 8 19246354;20887963 germline Genetic Alliance:Premature+ovarian+failure+7/9153;MedGen:C2751825;OMIM:612964;Genetic Alliance:Spermatogenic+failure+8/9327;MedGen:C3151406;OMIM:613957 2010-10-08 0 0 -9 132327789 G A 132327789 132327789 - Phase unknown 157525 RCV000144869 SCV000172140 167387 SETX NM_015046.5:c.3809C>T NP_055861.3:p.Pro1270Leu NM_015046.5:c.3809C>T:missense variant Likely benign uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 0 0 +9 132327718 G A 132327718 132327718 - Haplotype 441281 RCV000002384 SCV000022542 38425 SETX NM_015046.5:c.3880C>T NP_055861.3:p.Arg1294Cys NM_015046.5:c.3880C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 23, 2006 OMIM OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 16717225;20050888;20301317;20301333 germline GeneReviews:NBK1154;Genetic Alliance:Spinocerebellar+ataxia+autosomal+recessive+1/6771;Genetics Home Reference:ataxia-with-oculomotor-apraxia;MedGen:C1853761;OMIM:606002;Office of Rare Diseases:4949;Orphanet:64753 2006-05-23 0 0 +9 132327789 G A 132327789 132327789 - Phase unknown 157525 RCV000144869 SCV000172140 167387 SETX NM_015046.5:c.3809C>T NP_055861.3:p.Pro1270Leu NM_015046.5:c.3809C>T:missense variant Likely benign uncertain significance 0 0 1 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Nov 09, 2016 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 2 0 9 132328521 C CTCA 132328522 132328523 Distinct chromosomes 157528 RCV000144873 SCV000172145 167390 REEP1 NM_015046.5:c.3075_3076insTGA NP_055861.3:p.Arg1026_Lys1360delinsTer NM_015046.5:c.3075_3076insTGA:inframe_variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 2013 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type|spasticity;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 0 0 -9 132349370 C T 132349370 132349370 - Phase unknown 157525 RCV000144869 SCV000172140 167386 SETX NM_015046.5:c.59G>A NP_055861.3:p.Arg20His NM_015046.5:c.59G>A:missense variant Benign/Likely benign uncertain significance 0 0 1 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Oct 06, 2016 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 2 0 +9 132329641 G T 132329641 132329641 - Haplotype 441280 RCV000002383 SCV000022541 38424 SETX NM_015046.5:c.1957C>A NP_055861.3:p.Gln653Lys NM_015046.5:c.1957C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 2007 OMIM OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 17096168;20050888;20301317;20301333 germline GeneReviews:NBK1154;Genetic Alliance:Spinocerebellar+ataxia+autosomal+recessive+1/6771;Genetics Home Reference:ataxia-with-oculomotor-apraxia;MedGen:C1853761;OMIM:606002;Office of Rare Diseases:4949;Orphanet:64753 2007-01-01 0 0 +9 132329791 T C 132329791 132329791 - Haplotype 441280 RCV000002383 SCV000022541 17332 SETX NM_015046.5:c.1807A>G NP_055861.3:p.Asn603Asp NM_015046.5:c.1807A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 2007 OMIM OMIM Spinocerebellar ataxia autosomal recessive 1;SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 17096168;20050888;20301317;20301333 germline GeneReviews:NBK1154;Genetic Alliance:Spinocerebellar+ataxia+autosomal+recessive+1/6771;Genetics Home Reference:ataxia-with-oculomotor-apraxia;MedGen:C1853761;OMIM:606002;Office of Rare Diseases:4949;Orphanet:64753 2007-01-01 0 0 +9 132349370 C T 132349370 132349370 - Phase unknown 157525 RCV000144869 SCV000172140 167386 SETX NM_015046.5:c.59G>A NP_055861.3:p.Arg20His NM_015046.5:c.59G>A:missense variant Benign/Likely benign uncertain significance 0 0 1 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 31, 2017 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 20301532;25025039 tested-inconclusive GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 2 0 9 133255928 C G 133255928 133255928 - Haplotype 17738 RCV000019312 SCV000039601 38414 ABO NM_020469.2:c.803G>C NP_065202.2:p.Gly268Ala NM_020469.2:c.803G>C:missense variant - association 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 18, 2015 OMIM OMIM ABO blood group system;ABO BLOOD GROUP SYSTEM, CIS-AB PHENOTYPE 14170898;6775529;8456556 germline MedGen:C0000778;OMIM:110300.0001;OMIM:110300.0002;OMIM:110300.0003;OMIM:110300.0004;OMIM:110300.0005;OMIM:616093;SNOMED CT:63915006 2015-05-18 0 0 9 133256264 G A 133256264 133256264 - Haplotype 17738 RCV000019312 SCV000039601 32777 ABO NM_020469.2:c.467C>T NP_065202.2:p.Pro156Leu NM_020469.2:c.467C>T:missense variant - association 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 18, 2015 OMIM OMIM ABO blood group system;ABO BLOOD GROUP SYSTEM, CIS-AB PHENOTYPE 14170898;6775529;8456556 germline MedGen:C0000778;OMIM:110300.0001;OMIM:110300.0002;OMIM:110300.0003;OMIM:110300.0004;OMIM:110300.0005;OMIM:616093;SNOMED CT:63915006 2015-05-18 0 0 -9 133436862 C G 133436862 133436862 + Haplotype 5813 RCV000006169 SCV000026351 20852 ADAMTS13 NM_139025.4:c.1342C>G NP_620594.1:p.Gln448Glu NM_139025.4:c.1342C>G:missense variant;NR_024514.2:n.993-2504C>G:intron variant Benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Upshaw-Schulman syndrome;THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL 12181489 germline Genetic Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089;Genetics Home Reference:thrombotic-thrombocytopenic-purpura;MedGen:C1268935;OMIM:274150;Office of Rare Diseases:9430;SNOMED CT:373420004 2002-09-03 0 0 -9 133437836 G A 133437836 133437836 + Haplotype 5813 RCV000006169 SCV000026351 38438 ADAMTS13 NM_139025.4:c.1523G>A NP_620594.1:p.Cys508Tyr NM_139025.4:c.1523G>A:missense variant;NR_024514.2:n.993-1530G>A:intron variant not provided pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 03, 2002 OMIM OMIM Upshaw-Schulman syndrome;THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL 12181489 germline Genetic Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089;Genetics Home Reference:thrombotic-thrombocytopenic-purpura;MedGen:C1268935;OMIM:274150;Office of Rare Diseases:9430;SNOMED CT:373420004 2002-09-03 0 0 -9 133636672 G A 133636672 133636672 + Haplotype 1752 RCV000001822 SCV000021978 16791 DBH NM_000787.3:c.301G>A NP_000778.3:p.Val101Met NM_000787.3:c.301G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 29, 2015 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C1857209;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 0 0 -9 133647854 G A 133647854 133647854 + Haplotype 1752 RCV000001822 SCV000021978 38418 DBH NM_000787.3:c.1033G>A NP_000778.3:p.Asp345Asn NM_000787.3:c.1033G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 29, 2015 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C1857209;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 0 0 +9 133436862 C G 133436862 133436862 + Haplotype 5813 RCV000006169 SCV000026351 20852 ADAMTS13 NM_139025.4:c.1342C>G NP_620594.1:p.Gln448Glu NM_139025.4:c.1342C>G:missense variant;NR_024514.2:n.993-2504C>G:intron variant Benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 14, 2016 OMIM OMIM Upshaw-Schulman syndrome;THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL 12181489 germline Genetic Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089;Genetics Home Reference:thrombotic-thrombocytopenic-purpura;MedGen:C1268935;OMIM:274150;Office of Rare Diseases:9430;SNOMED CT:373420004 2002-09-03 2 0 +9 133437836 G A 133437836 133437836 + Haplotype 5813 RCV000006169 SCV000026351 38438 ADAMTS13 NM_139025.4:c.1523G>A NP_620594.1:p.Cys508Tyr NM_139025.4:c.1523G>A:missense variant;NR_024514.2:n.993-1530G>A:intron variant not provided pathogenic 1 0 0 0 0 no assertion provided no assertion criteria provided Sep 03, 2002 OMIM OMIM Upshaw-Schulman syndrome;THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL 12181489 germline Genetic Alliance:Thrombotic+thrombocytopenic+purpura%2C+congenital/7089;Genetics Home Reference:thrombotic-thrombocytopenic-purpura;MedGen:C1268935;OMIM:274150;Office of Rare Diseases:9430;SNOMED CT:373420004 2002-09-03 0 0 +9 133636672 G A 133636672 133636672 + Haplotype 1752 RCV000001822 SCV000021978 16791 DBH NM_000787.3:c.301G>A NP_000778.3:p.Val101Met NM_000787.3:c.301G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 29, 2015 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C0342687;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 0 0 +9 133647854 G A 133647854 133647854 + Haplotype 1752 RCV000001822 SCV000021978 38418 DBH NM_000787.3:c.1033G>A NP_000778.3:p.Asp345Asn NM_000787.3:c.1033G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 29, 2015 OMIM OMIM Dopamine beta hydroxylase deficiency;DOPAMINE BETA-HYDROXYLASE DEFICIENCY 11857564;20301647 germline GeneReviews:NBK1474;Genetic Alliance:Dopamine+Beta+Hydroxylase+Deficiency/2316;MedGen:C0342687;OMIM:223360;Office of Rare Diseases:1903;Orphanet:230 2002-03-01 0 0 10 43114496 G C 43114496 43114496 + Haplotype 13906 RCV000014920 SCV000035176 28945 RET NM_020975.4:c.1896G>C NP_066124.1:p.Glu632Asp NM_020975.4:c.1896G>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1994 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 0 0 -10 43114497 C G 43114497 43114497 + Haplotype 13906 RCV000014920 SCV000035176 38399 RET NM_020975.4:c.1897C>G NP_066124.1:p.Leu633Val NM_020975.4:c.1897C>G:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Sep 13, 2016 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 2 0 -10 43114500 T C 43114500 43114500 + Haplotype 13906 RCV000014920 SCV000035176 28956 RET NM_020975.4:c.1900T>C NP_066124.1:p.Cys634Arg NM_020975.4:c.1900T>C:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 29, 2017 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 2 0 -10 43119548 G A 43119548 43119548 + Haplotype 13945 RCV000014972 SCV000035228 28984 RET NM_020975.4:c.2410G>A NP_066124.1:p.Val804Met NM_020975.4:c.2410G>A:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 13, 2017 OMIM OMIM Multiple endocrine neoplasia, type 2b;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 11739416;11788682;19469690;20301434;21863057;23788249;24893135;25356965;27854360;8797874;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958;MeSH:D018814;MedGen:C0025269;OMIM:162300;OMIM:164761.0013;OMIM:164761.0043;Orphanet:653;SNOMED CT:6153000;SNOMED CT:61530001 2002-01-01 0 0 -10 43120184 C G 43120184 43120184 + Haplotype 13945 RCV000014972 SCV000035228 36303 RET NM_020975.4:c.2711C>G NP_066124.1:p.Ser904Cys NM_020975.4:c.2711C>G:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 04, 2012 OMIM OMIM Multiple endocrine neoplasia, type 2b;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 11739416;11788682;19469690;20301434;21863057;23788249;24893135;25356965;27854360;8797874;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958;MeSH:D018814;MedGen:C0025269;OMIM:162300;OMIM:164761.0013;OMIM:164761.0043;Orphanet:653;SNOMED CT:6153000;SNOMED CT:61530001 2002-01-01 0 0 +10 43114497 C G 43114497 43114497 + Haplotype 13906 RCV000014920 SCV000035176 38399 RET NM_020975.4:c.1897C>G NP_066124.1:p.Leu633Val NM_020975.4:c.1897C>G:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 13, 2016 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 0 0 +10 43114500 T C 43114500 43114500 + Haplotype 13906 RCV000014920 SCV000035176 28956 RET NM_020975.4:c.1900T>C NP_066124.1:p.Cys634Arg NM_020975.4:c.1900T>C:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Sep 28, 2017 OMIM OMIM Multiple endocrine neoplasia, type 2a;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA 11739416;19469690;20301434;21863057;23788249;24893135;25356965;25394175;27854360;3078962;7907913;8099202;8103403;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia+type+2A/4956;MeSH:D018813;MedGen:C0025268;OMIM:164761.0001;OMIM:164761.0002;OMIM:164761.0003;OMIM:164761.0004;OMIM:164761.0005;OMIM:164761.0006;OMIM:164761.0007;OMIM:164761.0008;OMIM:164761.0009;OMIM:164761.0010;OMIM:164761.0011;OMIM:164761.0012;OMIM:164761.0024;OMIM:164761.0025;OMIM:164761.0033;OMIM:164761.0040;OMIM:164761.0047;OMIM:164761.0049;OMIM:171400;Orphanet:653;SNOMED CT:61808009 1994-01-01 2 0 +10 43119548 G A 43119548 43119548 + Haplotype 13945 RCV000014972 SCV000035228 28984 RET NM_020975.4:c.2410G>A NP_066124.1:p.Val804Met NM_020975.4:c.2410G>A:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 27, 2017 OMIM OMIM Multiple endocrine neoplasia, type 2b;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 11739416;11788682;19469690;20301434;21863057;23788249;24893135;25356965;27854360;8797874;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958;MeSH:D018814;MedGen:C0025269;OMIM:162300;OMIM:164761.0013;OMIM:164761.0043;Orphanet:653;SNOMED CT:6153000;SNOMED CT:61530001 2002-01-01 0 0 +10 43120184 C G 43120184 43120184 + Haplotype 13945 RCV000014972 SCV000035228 36303 RET NM_020975.4:c.2711C>G NP_066124.1:p.Ser904Cys NM_020975.4:c.2711C>G:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Dec 04, 2012 OMIM OMIM Multiple endocrine neoplasia, type 2b;MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB 11739416;11788682;19469690;20301434;21863057;23788249;24893135;25356965;27854360;8797874;8918855 germline GeneReviews:NBK1257;Genetic Alliance:Multiple+endocrine+neoplasia%2C+type+2B/4958;MeSH:D018814;MedGen:C0025269;OMIM:162300;OMIM:164761.0013;OMIM:164761.0043;Orphanet:653;SNOMED CT:6153000;SNOMED CT:61530001 2002-01-01 0 0 10 62813491 C A 62813491 62813491 - Haplotype 16751 RCV000018235 SCV000038514 38481 EGR2 NM_000399.4:c.1147G>T NP_000390.2:p.Asp383Tyr NM_000399.4:c.1147G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 18, 2012 OMIM OMIM Neuropathy, congenital hypomyelinating, autosomal dominant;NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT 9537424 germline MedGen:CN069993 1998-04-01 0 0 10 62813492 A C 62813492 62813492 - Haplotype 16751 RCV000018235 SCV000038514 31790 EGR2 NM_000399.4:c.1146T>G NP_000390.2:p.Ser382Arg NM_000399.4:c.1146T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 18, 2012 OMIM OMIM Neuropathy, congenital hypomyelinating, autosomal dominant;NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT 9537424 germline MedGen:CN069993 1998-04-01 0 0 10 70884002 C T 70884002 70884002 - Haplotype 180130 RCV000156929 SCV000206650 178310 PCBD1 NM_000281.3:c.263G>A NP_000272.1:p.Arg88Gln NM_000281.3:c.263G>A:missense variant;NM_001323004.1:c.216+1150G>A:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 01, 2014 OMIM OMIM Hyperphenylalaninemia, BH4-deficient, D;HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 24848070;9760199 germline Genetic Alliance:Hyperphenylalaninemia+with+primapterinuria/3595;MedGen:C1849700;OMIM:264070;Orphanet:238583 2014-10-01 0 0 @@ -228,45 +252,47 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 10 94313343 T C 94313343 94313343 + Haplotype 266012 RCV000256386 SCV000323171 260792 PLCE1 NM_016341.3:c.6093T>C NP_057425.3:p.Thr2031= NM_016341.3:c.6093T>C:synonymous variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided - Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Nephrotic syndrome, type 3 germline Genetic Alliance:Nephrotic+syndrome%2C+type+3/8988;MedGen:C1853124;OMIM:610725;Orphanet:656 0000-00-00 0 0 10 94324971 G A 94324971 94324971 + Haplotype 266012 RCV000256386 SCV000323171 260793 PLCE1 NM_016341.3:c.6800G>A NP_057425.3:p.Arg2267Gln NM_016341.3:c.6800G>A:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant no assertion criteria provided - Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare Nephrotic syndrome, type 3 germline Genetic Alliance:Nephrotic+syndrome%2C+type+3/8988;MedGen:C1853124;OMIM:610725;Orphanet:656 0000-00-00 0 0 10 94942290 C T 94942290 94942290 + Haplotype 177709 RCV000154312 SCV000203973 23448 CYP2C9 NM_000771.3:c.430C>T NP_000762.2:p.Arg144Cys NM_000771.3:c.430C>T:missense variant drug response drug response 0 0 0 0 0 reviewed by expert panel no assertion criteria provided Aug 28, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Warfarin response;Warfarin Metabolism 18281915;18281922;24251364;26186657 germline Genetic Alliance:Warfarin+response/9469;MedGen:CN078029;OMIM:122700;OMIM:122720.0001;OMIM:122720.0005;OMIM:608547.0002;OMIM:608547.0003;OMIM:608547.0004;OMIM:608547.0005;OMIM:608547.0007;PharmGKB:PA451906 2006-11-20 3 0 -10 94981296 A C 94981296 94981296 + Haplotype 163021 RCV000150378 SCV000197513 23447 CYP2C9 NM_000771.3:c.1075A>C NP_000762.2:p.Ile359Leu NM_000771.3:c.1075A>C:missense variant drug response drug response 0 0 0 0 0 reviewed by expert panel no assertion criteria provided Jul 10, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Warfarin response;Warfarin Metabolism 18281915;18281922;24251364;26186657 germline Genetic Alliance:Warfarin+response/9469;MedGen:CN078029;OMIM:122700;OMIM:122720.0001;OMIM:122720.0005;OMIM:608547.0002;OMIM:608547.0003;OMIM:608547.0004;OMIM:608547.0005;OMIM:608547.0007;PharmGKB:PA451906 2006-11-20 3 0 +10 94981296 A C 94981296 94981296 + Haplotype 163021 RCV000150378 SCV000197513 23447 CYP2C9 NM_000771.3:c.1075A>C NP_000762.2:p.Ile359Leu NM_000771.3:c.1075A>C:missense variant drug response drug response 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 10, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Warfarin response;Warfarin Metabolism 18281915;18281922;24251364;26186657 germline Genetic Alliance:Warfarin+response/9469;MedGen:CN078029;OMIM:122700;OMIM:122720.0001;OMIM:122720.0005;OMIM:608547.0002;OMIM:608547.0003;OMIM:608547.0004;OMIM:608547.0005;OMIM:608547.0007;PharmGKB:PA451906 2006-11-20 0 0 10 119030538 G A 119030538 119030538 + Haplotype 65392 RCV000055619 SCV000083844 76326 NANOS1 NM_199461.3:c.737G>A NP_955631.1:p.Arg246His NM_199461.3:c.737G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 2013 OMIM OMIM Spermatogenic failure 12;SPERMATOGENIC FAILURE 12 23315541 germline MedGen:C3809427;OMIM:615413 2013-03-01 0 0 10 119030627 CG TA 119030627 119030628 + Haplotype 65392 RCV000055619 SCV000083844 76327 NANOS1 NM_199461.3:c.826_827delCGinsTA NP_955631.1:p.Arg276Tyr NM_199461.3:c.826_827delCGinsTA:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 2013 OMIM OMIM Spermatogenic failure 12;SPERMATOGENIC FAILURE 12 23315541 germline MedGen:C3809427;OMIM:615413 2013-03-01 0 0 10 133526101 G C 133526101 133526101 + Haplotype 16887 RCV000018383 SCV000038665 136523 CYP2E1 NM_000773.3:c.-1295G>C NM_000773.3:c.-1295G>C:2KB upstream variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 20, 2016 OMIM OMIM CYP2E1*5B ALLELE;CYP2E1*5B ALLELE 10543395;1778977;19444287 germline OMIM:124040.0001 2016-04-20 0 0 10 133526341 C T 133526341 133526341 + Haplotype 16887 RCV000018383 SCV000038665 136524 CYP2E1 NM_000773.3:c.-1055C>T NM_000773.3:c.-1055C>T:2KB upstream variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 20, 2016 OMIM OMIM CYP2E1*5B ALLELE;CYP2E1*5B ALLELE 10543395;1778977;19444287 germline OMIM:124040.0001 2016-04-20 0 0 -11 5225609 T A 5225609 5225609 - Haplotype 15617 RCV000016884 SCV000037154 38409 HBB NM_000518.4:c.433A>T NP_000509.1:p.Lys145Ter NM_000518.4:c.433A>T:nonsense - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 0 0 -11 5225614 G A 5225614 5225614 - Haplotype 15337 RCV000016580 SCV000036849 38472 HBB NM_000518.4:c.428C>T NP_000509.1:p.Ala143Val NM_000518.4:c.428C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1992 OMIM OMIM HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (TRAVIS) 1634360;19257 germline OMIM:141900.0247 1992-01-01 0 0 -11 5225618 G C 5225618 5225618 - Haplotype 15617 RCV000016884 SCV000037154 30656 HBB NM_000518.4:c.424C>G NP_000509.1:p.Leu142Val NM_000518.4:c.424C>G:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 0 0 -11 5225675 A G 5225675 5225675 - Haplotype 15581 RCV000016848 SCV000037118 30619 HBB NM_000518.4:c.367T>C NP_000509.1:p.Phe123Leu NM_000518.4:c.367T>C:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 0 0 -11 5225678 C G 5225678 5225678 - Haplotype 15366;15496;15591 RCV000016617;RCV000016758;RCV000016858 SCV000036886;SCV000037028;SCV000037128 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant Conflicting interpretations of pathogenicity, other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 26, 2017 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN CLEVELAND;HEMOGLOBIN D (AGRI) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136;1787096;11570725 germline OMIM:141900.0276;OMIM:141900.0407;OMIM:141900.0502 2016-07-20 0 1 -11 5225678 C T 5225678 5225678 - Haplotype 15335;15596 RCV000016577;RCV000016863 SCV000036846;SCV000037133 30331 HBB NM_000518.4:c.364G>A NP_000509.1:p.Glu122Lys NM_000518.4:c.364G>A:missense variant Pathogenic, other pathogenic;other 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 26, 2017 OMIM OMIM Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN);HEMOGLOBIN O (TIBESTI) 10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244;11939508 germline MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005;OMIM:141900.0507 1999-04-01;2016-07-20 2 0 -11 5225683 C T 5225683 5225683 - Haplotype 15165;15262 RCV000016336;RCV000016486 SCV000036604;SCV000036754 38469 HBB NM_000518.4:c.359G>A NP_000509.1:p.Gly120Asp NM_000518.4:c.359G>A:missense variant Likely benign other 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 26, 2017 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN MASUDA 20942;7852084;2634673 germline OMIM:141900.0075;OMIM:141900.0172 2017-02-27;2016-07-20 1 0 -11 5225699 G T 5225699 5225699 - Haplotype 15262 RCV000016486 SCV000036754 30525 HBB NM_000518.4:c.343C>A NP_000509.1:p.Leu115Met NM_000518.4:c.343C>A:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN MASUDA;HEMOGLOBIN MASUDA 2634673 germline OMIM:141900.0172 2016-07-20 0 0 -11 5225708 C G 5225708 5225708 - Haplotype 15165 RCV000016336 SCV000036604 30204 HBB NM_000518.4:c.334G>C NP_000509.1:p.Val112Leu NM_000518.4:c.334G>C:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN FANNIN-LUBBOCK 20942;7852084 germline OMIM:141900.0075 2017-02-27 0 0 -11 5226597 C T 5226597 5226597 - Haplotype 15541 RCV000016807 SCV000037077 30280 HBB NM_000518.4:c.295G>A NP_000509.1:p.Val99Met NM_000518.4:c.295G>A:missense variant Pathogenic other 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Apr 24, 2017 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 1 0 -11 5226606 T C 5226606 5226606 - Haplotype 15098 RCV000016251 SCV000036519 30317 HBB NM_000518.4:c.286A>G NP_000509.1:p.Lys96Glu NM_000518.4:c.286A>G:missense variant Likely benign, other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 10, 2017 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 0 0 -11 5226612 A G 5226612 5226612 - Haplotype 15496 RCV000016758 SCV000037028 30336 HBB NM_000518.4:c.280T>C NP_000509.1:p.Cys94Arg NM_000518.4:c.280T>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN CLEVELAND;HEMOGLOBIN CLEVELAND 1177278;1244906;12709369;15108284;16370495;16540414;1787096;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0407 2016-07-20 0 0 -11 5226614 T G 5226614 5226614 - Haplotype 15516 RCV000016780 SCV000037050 30326 HBB NM_000518.4:c.278A>C NP_000509.1:p.His93Pro NM_000518.4:c.278A>C:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN DUINO;HEMOGLOBIN DUINO 1511986 germline OMIM:141900.0427 2016-07-20 0 0 -11 5226621 C T 5226621 5226621 - Haplotype 15610 RCV000016877 SCV000037147 30130 HBB NM_000518.4:c.271G>A NP_000509.1:p.Glu91Lys NM_000518.4:c.271G>A:missense variant other pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN S (CAMEROON);HEMOGLOBIN S (CAMEROON) 15182055 germline OMIM:141900.0521 2004-05-01 0 0 -11 5226633 C G 5226633 5226633 - Haplotype 15313 RCV000016553 SCV000036821 30650 HBB NM_000518.4:c.259G>C NP_000509.1:p.Ala87Pro NM_000518.4:c.259G>C:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 0 0 -11 5226672 C T 5226672 5226672 - Haplotype 15127 RCV000016286 SCV000036554 30283 HBB NM_000518.4:c.220G>A NP_000509.1:p.Asp74Asn NM_000518.4:c.220G>A:missense variant Likely benign, other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 23, 2017 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN) 13943409;5069596;5490239;5928902 germline OMIM:141900.0039;OMIM:141900.0040 2017-02-27 0 0 -11 5226687 G A 5226687 5226687 - Haplotype 15612 RCV000016879 SCV000037149 30652 HBB NM_000518.4:c.205C>T NP_000509.1:p.Leu69Phe NM_000518.4:c.205C>T:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN JAMAICA PLAIN;HEMOGLOBIN JAMAICA PLAIN 15470216;6166632 germline OMIM:141900.0523 2017-02-27 0 0 -11 5226695 T A 5226695 5226695 - Haplotype 15581 RCV000016848 SCV000037118 30250 HBB NM_000518.4:c.197A>T NP_000509.1:p.Lys66Met NM_000518.4:c.197A>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 0 0 -11 5226716 G C 5226716 5226716 - Haplotype 15128 RCV000030905 SCV000036556 30437 HBB NM_000518.4:c.176C>G NP_000509.1:p.Pro59Arg NM_000518.4:c.176C>G:missense variant Pathogenic other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (ZIGUINCHOR) 1225575;893143 germline OMIM:141900.0039;OMIM:141900.0040 2016-07-20 0 0 -11 5226723 C G 5226723 5226723 - Haplotype 15313 RCV000016553 SCV000036821 30227 HBB NM_000518.4:c.169G>C NP_000509.1:p.Gly57Arg NM_000518.4:c.169G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 0 0 -11 5226735 C T 5226735 5226735 - Haplotype 15497 RCV000016759 SCV000037029 30341 HBB NM_000518.4:c.157G>A NP_000509.1:p.Asp53Asn NM_000518.4:c.157G>A:missense variant Conflicting interpretations of pathogenicity other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 27, 2017 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 0 1 -11 5226738 G A 5226738 5226738 - Haplotype 15497 RCV000016759 SCV000037029 30536 HBB NM_000518.4:c.154C>T NP_000509.1:p.Pro52Ser NM_000518.4:c.154C>T:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 0 0 -11 5226794 A T 5226794 5226794 - Haplotype 15541 RCV000016807 SCV000037077 30572 HBB NM_000518.4:c.98T>A NP_000509.1:p.Leu33Gln NM_000518.4:c.98T>A:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 0 0 -11 5226943 C T 5226943 5226943 - Haplotype 15366 RCV000016617 SCV000036886 30200 HBB NM_000518.4:c.79G>A NP_000509.1:p.Glu27Lys NM_000518.4:c.79G>A:missense variant Pathogenic, other, protective other 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 16, 2017 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN T (CAMBODIA) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0276 2016-07-20 2 0 -11 5226952 C T 5226952 5226952 - Haplotype 15334 RCV000016576 SCV000036845 38470 HBB NM_000518.4:c.70G>A NP_000509.1:p.Val24Ile NM_000518.4:c.70G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 1997 OMIM OMIM HEMOGLOBIN S (ANTILLES);HEMOGLOBIN S (ANTILLES) 2189492;3467311;9166865 germline OMIM:141900.0244 1997-06-01 0 0 -11 5226988 C T 5226988 5226988 - Haplotype 15596 RCV000016863 SCV000037133 30228 HBB NM_000518.4:c.34G>A NP_000509.1:p.Val12Ile NM_000518.4:c.34G>A:missense variant Uncertain significance, other other 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Nov 12, 2016 OMIM OMIM HEMOGLOBIN O (TIBESTI);HEMOGLOBIN O (TIBESTI) 1112610;11179419;11939508;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline OMIM:141900.0507 2016-07-20 1 0 -11 5226993 G T 5226993 5226993 - Haplotype 15591 RCV000016858 SCV000037128 30658 HBB NM_000518.4:c.29C>A NP_000509.1:p.Ser10Tyr NM_000518.4:c.29C>A:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN D (AGRI);HEMOGLOBIN D (AGRI) 11570725;1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0502 2016-07-20 0 0 -11 5227002 T A 5227002 5227002 - Haplotype 15127;15128;15334;15335;15336;15337;15610;15612 RCV000016286;RCV000030905;RCV000016576;RCV000016577;RCV000016579;RCV000016580;RCV000016877;RCV000016879 SCV000036554;SCV000036556;SCV000036845;SCV000036846;SCV000036848;SCV000036849;SCV000037147;SCV000037149 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic, other, protective other;pathogenic 5 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 26, 2017 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN);HEMOGLOBIN C (ZIGUINCHOR);HEMOGLOBIN S (ANTILLES);Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN);HEMOGLOBIN S (PROVIDENCE);HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (CAMEROON);HEMOGLOBIN JAMAICA PLAIN 13943409;5069596;5490239;5928902;1225575;893143;2189492;3467311;9166865;10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244;3191036;1634360;19257;15182055;15470216;6166632 germline OMIM:141900.0039;OMIM:141900.0040;OMIM:141900.0244;MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005;OMIM:141900.0246;OMIM:141900.0247;OMIM:141900.0521;OMIM:141900.0523 2017-02-27;2016-07-20;1997-06-01;1999-04-01;1988-10-01;1992-01-01;2004-05-01 2 0 -11 5227003 C T 5227003 5227003 - Haplotype 15098 RCV000016251 SCV000036519 30165 HBB NM_000518.4:c.19G>A NP_000509.1:p.Glu7Lys NM_000518.4:c.19G>A:missense variant Pathogenic, protective other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 27, 2017 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 0 0 -11 5248393 G C 5248393 5248393 - Haplotype 15036 RCV000016180 SCV000036448 38468 HBG1 NM_000559.2:c.410C>G NP_000550.2:p.Ala137Gly NM_000559.2:c.410C>G:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 15, 2011 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (CHARLOTTE) 1714434 germline OMIM:142200.0032 2011-07-15 0 0 -11 5248394 C A 5248394 5248394 - Haplotype 15041 RCV000016185 SCV000036453 30080 HBG1 NM_000559.2:c.409G>T NP_000550.2:p.Ala137Ser NM_000559.2:c.409G>T:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 18, 2016 OMIM OMIM HEMOGLOBIN F (PORTO TORRES);HEMOGLOBIN F (PORTO TORRES) 15666429 germline OMIM:142200.0037 2016-08-18 0 0 -11 5249456 G A 5249456 5249456 - Haplotype 15036;15041 RCV000016180;RCV000016185 SCV000036448;SCV000036453 30044 HBG1 NM_000559.2:c.227C>T NP_000550.2:p.Thr76Ile NM_000559.2:c.227C>T:missense variant Benign, other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 18, 2016 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (PORTO TORRES) 1714434;15666429 germline OMIM:142200.0032;OMIM:142200.0037 2011-07-15;2016-08-18 0 0 +11 2572089 G A 2572089 2572089 + Haplotype 444879 RCV000003296 SCV000023454 18157 KCNQ1 NM_000218.2:c.760G>A NP_000209.2:p.Val254Met NM_000218.2:c.760G>A:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 29, 2017 OMIM OMIM Long QT syndrome 1;LONG QT SYNDROME 1 10973849;12820704;14678125;1475667;14756674;20301308;21810866;23788249;25356965;27854360;8528244;9386136 germline GeneReviews:NBK1129;Genetic Alliance:Long+QT+syndrome+1/4297;MedGen:C0035828;OMIM:192500;Office of Rare Diseases:3284;Orphanet:101016;Orphanet:768;SNOMED CT:20852007 2004-03-01 0 0 +11 2587690 G A 2587690 2587690 + Haplotype 444879 RCV000003296 SCV000023454 38428 KCNQ1 NM_181798.1:c.868G>A NP_000209.2:p.Val417Met NM_000218.2:c.1249G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 2004 OMIM OMIM Long QT syndrome 1;LONG QT SYNDROME 1 10973849;12820704;14678125;1475667;14756674;20301308;21810866;23788249;25356965;27854360;8528244;9386136 germline GeneReviews:NBK1129;Genetic Alliance:Long+QT+syndrome+1/4297;MedGen:C0035828;OMIM:192500;Office of Rare Diseases:3284;Orphanet:101016;Orphanet:768;SNOMED CT:20852007 2004-03-01 0 0 +11 5225609 T A 5225609 5225609 - Haplotype 446749 RCV000016884 SCV000037154 38409 HBB NM_000518.4:c.433A>T NP_000509.1:p.Lys145Ter NM_000518.4:c.433A>T:nonsense - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 0 0 +11 5225614 G A 5225614 5225614 - Haplotype 446738 RCV000016580 SCV000036849 38472 HBB NM_000518.4:c.428C>T NP_000509.1:p.Ala143Val NM_000518.4:c.428C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 1992 OMIM OMIM HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (TRAVIS) 1634360;19257 germline OMIM:141900.0247 1992-01-01 0 0 +11 5225618 G C 5225618 5225618 - Haplotype 446749 RCV000016884 SCV000037154 30656 HBB NM_000518.4:c.424C>G NP_000509.1:p.Leu142Val NM_000518.4:c.424C>G:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN KOCHI;HEMOGLOBIN KOCHI 15768550 germline OMIM:141900.0532 2016-07-20 0 0 +11 5225675 A G 5225675 5225675 - Haplotype 446744 RCV000016848 SCV000037118 30619 HBB NM_000518.4:c.367T>C NP_000509.1:p.Phe123Leu NM_000518.4:c.367T>C:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 0 0 +11 5225678 C G 5225678 5225678 - Haplotype 446739;446740;446745 RCV000016617;RCV000016758;RCV000016858 SCV000036886;SCV000037028;SCV000037128 30191 HBB NM_000518.4:c.364G>C NP_000509.1:p.Glu122Gln NM_000518.4:c.364G>C:missense variant Conflicting interpretations of pathogenicity, other other 0 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jun 26, 2017 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN CLEVELAND;HEMOGLOBIN D (AGRI) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136;1787096;11570725 germline OMIM:141900.0276;OMIM:141900.0407;OMIM:141900.0502 2016-07-20 1 1 +11 5225678 C T 5225678 5225678 - Haplotype 446736;446746 RCV000016577;RCV000016863 SCV000036846;SCV000037133 30331 HBB NM_000518.4:c.364G>A NP_000509.1:p.Glu122Lys NM_000518.4:c.364G>A:missense variant Pathogenic, other pathogenic;other 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 26, 2017 OMIM OMIM Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN);HEMOGLOBIN O (TIBESTI) 10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244;11939508 germline MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005;OMIM:141900.0507 1999-04-01;2016-07-20 0 0 +11 5225683 C T 5225683 5225683 - Haplotype 446732;446733 RCV000016336;RCV000016486 SCV000036604;SCV000036754 38469 HBB NM_000518.4:c.359G>A NP_000509.1:p.Gly120Asp NM_000518.4:c.359G>A:missense variant Likely benign other 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 26, 2017 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN MASUDA 20942;7852084;2634673 germline OMIM:141900.0075;OMIM:141900.0172 2017-02-27;2016-07-20 1 0 +11 5225699 G T 5225699 5225699 - Haplotype 446733 RCV000016486 SCV000036754 30525 HBB NM_000518.4:c.343C>A NP_000509.1:p.Leu115Met NM_000518.4:c.343C>A:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN MASUDA;HEMOGLOBIN MASUDA 2634673 germline OMIM:141900.0172 2016-07-20 0 0 +11 5225708 C G 5225708 5225708 - Haplotype 446732 RCV000016336 SCV000036604 30204 HBB NM_000518.4:c.334G>C NP_000509.1:p.Val112Leu NM_000518.4:c.334G>C:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN FANNIN-LUBBOCK;HEMOGLOBIN FANNIN-LUBBOCK 20942;7852084 germline OMIM:141900.0075 2017-02-27 0 0 +11 5226597 C T 5226597 5226597 - Haplotype 446743 RCV000016807 SCV000037077 30280 HBB NM_000518.4:c.295G>A NP_000509.1:p.Val99Met NM_000518.4:c.295G>A:missense variant Pathogenic other 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Apr 24, 2017 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 1 0 +11 5226606 T C 5226606 5226606 - Haplotype 446729 RCV000016251 SCV000036519 30317 HBB NM_000518.4:c.286A>G NP_000509.1:p.Lys96Glu NM_000518.4:c.286A>G:missense variant Likely benign, other other 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 10, 2017 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 2 0 +11 5226612 A G 5226612 5226612 - Haplotype 446740 RCV000016758 SCV000037028 30336 HBB NM_000518.4:c.280T>C NP_000509.1:p.Cys94Arg NM_000518.4:c.280T>C:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN CLEVELAND;HEMOGLOBIN CLEVELAND 1177278;1244906;12709369;15108284;16370495;16540414;1787096;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0407 2016-07-20 0 0 +11 5226614 T G 5226614 5226614 - Haplotype 446742 RCV000016780 SCV000037050 30326 HBB NM_000518.4:c.278A>C NP_000509.1:p.His93Pro NM_000518.4:c.278A>C:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN DUINO;HEMOGLOBIN DUINO 1511986 germline OMIM:141900.0427 2016-07-20 0 0 +11 5226621 C T 5226621 5226621 - Haplotype 446747 RCV000016877 SCV000037147 30130 HBB NM_000518.4:c.271G>A NP_000509.1:p.Glu91Lys NM_000518.4:c.271G>A:missense variant other pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN S (CAMEROON);HEMOGLOBIN S (CAMEROON) 15182055 germline OMIM:141900.0521 2004-05-01 0 0 +11 5226633 C G 5226633 5226633 - Haplotype 446734 RCV000016553 SCV000036821 30650 HBB NM_000518.4:c.259G>C NP_000509.1:p.Ala87Pro NM_000518.4:c.259G>C:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 0 0 +11 5226672 C T 5226672 5226672 - Haplotype 446730 RCV000016286 SCV000036554 30283 HBB NM_000518.4:c.220G>A NP_000509.1:p.Asp74Asn NM_000518.4:c.220G>A:missense variant Likely benign, other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 23, 2017 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN) 13943409;5069596;5490239;5928902 germline OMIM:141900.0039;OMIM:141900.0040 2017-02-27 0 0 +11 5226687 G A 5226687 5226687 - Haplotype 446748 RCV000016879 SCV000037149 30652 HBB NM_000518.4:c.205C>T NP_000509.1:p.Leu69Phe NM_000518.4:c.205C>T:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN JAMAICA PLAIN;HEMOGLOBIN JAMAICA PLAIN 15470216;6166632 germline OMIM:141900.0523 2017-02-27 0 0 +11 5226695 T A 5226695 5226695 - Haplotype 446744 RCV000016848 SCV000037118 30250 HBB NM_000518.4:c.197A>T NP_000509.1:p.Lys66Met NM_000518.4:c.197A>T:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN CASABLANCA;HEMOGLOBIN CASABLANCA 10870883 germline OMIM:141900.0493 2016-07-20 0 0 +11 5226716 G C 5226716 5226716 - Haplotype 446731 RCV000030905 SCV000036556 30437 HBB NM_000518.4:c.176C>G NP_000509.1:p.Pro59Arg NM_000518.4:c.176C>G:missense variant Pathogenic other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (ZIGUINCHOR) 1225575;893143 germline OMIM:141900.0039;OMIM:141900.0040 2016-07-20 0 0 +11 5226723 C G 5226723 5226723 - Haplotype 446734 RCV000016553 SCV000036821 30227 HBB NM_000518.4:c.169G>C NP_000509.1:p.Gly57Arg NM_000518.4:c.169G>C:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 27, 2017 OMIM OMIM HEMOGLOBIN POISSY;HEMOGLOBIN POISSY 3841063 germline OMIM:141900.0223 2016-07-20 0 0 +11 5226735 C T 5226735 5226735 - Haplotype 446741 RCV000016759 SCV000037029 30341 HBB NM_000518.4:c.157G>A NP_000509.1:p.Asp53Asn NM_000518.4:c.157G>A:missense variant Conflicting interpretations of pathogenicity other 0 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jun 27, 2017 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 1 1 +11 5226738 G A 5226738 5226738 - Haplotype 446741 RCV000016759 SCV000037029 30536 HBB NM_000518.4:c.154C>T NP_000509.1:p.Pro52Ser NM_000518.4:c.154C>T:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN GRENOBLE;HEMOGLOBIN GRENOBLE 10335988;15008267;16178917;18932067;2079433;5097135;640855 germline OMIM:141900.0408 2016-07-20 0 0 +11 5226794 A T 5226794 5226794 - Haplotype 446743 RCV000016807 SCV000037077 30572 HBB NM_000518.4:c.98T>A NP_000509.1:p.Leu33Gln NM_000518.4:c.98T>A:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN MEDICINE LAKE;HEMOGLOBIN MEDICINE LAKE 7860732 germline OMIM:141900.0452 2016-07-20 0 0 +11 5226943 C T 5226943 5226943 - Haplotype 446739 RCV000016617 SCV000036886 30200 HBB NM_000518.4:c.79G>A NP_000509.1:p.Glu27Lys NM_000518.4:c.79G>A:missense variant Pathogenic, other, protective other 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Aug 23, 2017 OMIM OMIM HEMOGLOBIN T (CAMBODIA);HEMOGLOBIN T (CAMBODIA) 1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0276 2016-07-20 2 0 +11 5226952 C T 5226952 5226952 - Haplotype 446735 RCV000016576 SCV000036845 38470 HBB NM_000518.4:c.70G>A NP_000509.1:p.Val24Ile NM_000518.4:c.70G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 01, 1997 OMIM OMIM HEMOGLOBIN S (ANTILLES);HEMOGLOBIN S (ANTILLES) 2189492;3467311;9166865 germline OMIM:141900.0244 1997-06-01 0 0 +11 5226988 C T 5226988 5226988 - Haplotype 446746 RCV000016863 SCV000037133 30228 HBB NM_000518.4:c.34G>A NP_000509.1:p.Val12Ile NM_000518.4:c.34G>A:missense variant Uncertain significance, other other 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Nov 12, 2016 OMIM OMIM HEMOGLOBIN O (TIBESTI);HEMOGLOBIN O (TIBESTI) 1112610;11179419;11939508;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244 germline OMIM:141900.0507 2016-07-20 1 0 +11 5226993 G T 5226993 5226993 - Haplotype 446745 RCV000016858 SCV000037128 30658 HBB NM_000518.4:c.29C>A NP_000509.1:p.Ser10Tyr NM_000518.4:c.29C>A:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN D (AGRI);HEMOGLOBIN D (AGRI) 11570725;1177278;1244906;12709369;15108284;16370495;16540414;19440680;19460936;20437613;20704537;20838957;21119755;2930724;4613830;640855;893136 germline OMIM:141900.0502 2016-07-20 0 0 +11 5227002 T A 5227002 5227002 - Haplotype 446730;446731;446735;446736;446737;446738;446747;446748 RCV000016286;RCV000030905;RCV000016576;RCV000016577;RCV000016579;RCV000016580;RCV000016877;RCV000016879 SCV000036554;SCV000036556;SCV000036845;SCV000036846;SCV000036848;SCV000036849;SCV000037147;SCV000037149 30372 HBB NM_000518.4:c.20A>T NP_000509.1:p.Glu7Val NM_000518.4:c.20A>T:missense variant Pathogenic, other, protective other;pathogenic 5 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Dec 11, 2017 OMIM OMIM HEMOGLOBIN ZIGUINCHOR;HEMOGLOBIN C (GEORGETOWN);HEMOGLOBIN C (ZIGUINCHOR);HEMOGLOBIN S (ANTILLES);Sickle cell-Hemoglobin O Arab disease;HEMOGLOBIN S (OMAN);HEMOGLOBIN S (PROVIDENCE);HEMOGLOBIN S (TRAVIS);HEMOGLOBIN S (CAMEROON);HEMOGLOBIN JAMAICA PLAIN 13943409;5069596;5490239;5928902;1225575;893143;2189492;3467311;9166865;10203101;1112610;11179419;14282052;15108284;15502081;15543018;15710580;15710581;1732017;18254282;19783722;20704537;20854120;25052315;2930724;3859465;5481775;5915974;6716421;8195007;893136;9049622;9834244;3191036;1634360;19257;15182055;15470216;6166632 germline OMIM:141900.0039;OMIM:141900.0040;OMIM:141900.0244;MedGen:C1264000;OMIM:141900.0245;SNOMED CT:127048005;OMIM:141900.0246;OMIM:141900.0247;OMIM:141900.0521;OMIM:141900.0523 2017-02-27;2016-07-20;1997-06-01;1999-04-01;1988-10-01;1992-01-01;2004-05-01 2 0 +11 5227003 C T 5227003 5227003 - Haplotype 446729 RCV000016251 SCV000036519 30165 HBB NM_000518.4:c.19G>A NP_000509.1:p.Glu7Lys NM_000518.4:c.19G>A:missense variant Pathogenic, protective other 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 27, 2017 OMIM OMIM HEMOGLOBIN ARLINGTON PARK;HEMOGLOBIN ARLINGTON PARK 893139 germline OMIM:141900.0010 2016-07-20 2 0 +11 5248393 G C 5248393 5248393 - Haplotype 446751 RCV000016180 SCV000036448 38468 HBG1 NM_000559.2:c.410C>G NP_000550.2:p.Ala137Gly NM_000559.2:c.410C>G:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 15, 2011 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (CHARLOTTE) 1714434 germline OMIM:142200.0032 2011-07-15 0 0 +11 5248394 C A 5248394 5248394 - Haplotype 446752 RCV000016185 SCV000036453 30080 HBG1 NM_000559.2:c.409G>T NP_000550.2:p.Ala137Ser NM_000559.2:c.409G>T:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 18, 2016 OMIM OMIM HEMOGLOBIN F (PORTO TORRES);HEMOGLOBIN F (PORTO TORRES) 15666429 germline OMIM:142200.0037 2016-08-18 0 0 +11 5249456 G A 5249456 5249456 - Haplotype 446751;446752 RCV000016180;RCV000016185 SCV000036448;SCV000036453 30044 HBG1 NM_000559.2:c.227C>T NP_000550.2:p.Thr76Ile NM_000559.2:c.227C>T:missense variant Benign, other other 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Aug 18, 2016 OMIM OMIM HEMOGLOBIN F (CHARLOTTE);HEMOGLOBIN F (PORTO TORRES) 1714434;15666429 germline OMIM:142200.0032;OMIM:142200.0037 2011-07-15;2016-08-18 1 0 11 36574823 C T 36574823 36574823 + Haplotype 13157 RCV000014043 SCV000034290 28196 RAG1 NM_000448.2:c.1519C>T NP_000439.1:p.Arg507Trp NM_000448.2:c.1519C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 08, 2008 OMIM OMIM Combined cellular and humoral immune defects with granulomas;COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS 18463379 germline Genetic Alliance:Combined+cellular+and+humoral+immune+defects+with+granulomas/8008;MedGen:C2673536;OMIM:233650 2008-05-08 0 0 -11 36575514 G A 36575514 36575514 + Haplotype 13157 RCV000014043 SCV000034290 28188 RAG1 NM_000448.2:c.2210G>A NP_000439.1:p.Arg737His NM_000448.2:c.2210G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 08, 2008 OMIM OMIM Combined cellular and humoral immune defects with granulomas;COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS 18463379 germline Genetic Alliance:Combined+cellular+and+humoral+immune+defects+with+granulomas/8008;MedGen:C2673536;OMIM:233650 2008-05-08 0 0 +11 36575514 G A 36575514 36575514 + Haplotype 13157 RCV000014043 SCV000034290 28188 RAG1 NM_000448.2:c.2210G>A NP_000439.1:p.Arg737His NM_000448.2:c.2210G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided May 08, 2008 OMIM OMIM Combined cellular and humoral immune defects with granulomas;COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS 18463379 germline Genetic Alliance:Combined+cellular+and+humoral+immune+defects+with+granulomas/8008;MedGen:C2673536;OMIM:233650 2008-05-08 0 0 11 44107972 T G 44107972 44107972 + Haplotype 218894 RCV000203245 SCV000258309 137950 EXT2 NM_000401.3:c.359T>G NP_997005.1:p.Met87Arg NM_207122.1:c.260T>G:missense variant Likely benign pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Seizures, scoliosis, and macrocephaly syndrome;SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME (1 family) 26246518 germline MedGen:C4225248;OMIM:616682 2015-10-01 0 0 11 44107995 C T 44107995 44107995 + Haplotype 218894 RCV000203245 SCV000258309 215653 EXT2 NM_000401.3:c.382C>T NP_997005.1:p.Arg95Cys NM_207122.1:c.283C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 01, 2015 OMIM OMIM Seizures, scoliosis, and macrocephaly syndrome;SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME (1 family) 26246518 germline MedGen:C4225248;OMIM:616682 2015-10-01 0 0 11 66346080 G A 66346080 66346080 - Haplotype 51008 RCV000043695 SCV000071708 65678 B4GAT1 NM_006876.2:c.1217C>T NP_006867.1:p.Ala406Val NM_006876.2:c.1217C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 2013 OMIM OMIM Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 23359570 germline MedGen:C3809042;OMIM:615287;Orphanet:899 2013-05-01 0 0 @@ -274,13 +300,14 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 11 72225013 C CG 72225019 72225019 + Haplotype 235823 RCV000224773 SCV000281677 237478 INPPL1 NM_001567.3:c.35dupG NP_001558.3:p.Ala13Argfs NM_001567.3:c.35dupG:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 08, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 unknown Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 0 0 11 72229558 G C 72229558 72229558 + Haplotype 235822 RCV000224420 SCV000281676 237479 INPPL1 NM_001567.3:c.753G>C NP_001558.3:p.Gln251His NM_001567.3:c.753G>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 08, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 0 0 11 72229676 CAG C 72229677 72229678 + Haplotype 235825 RCV000224914 SCV000281680 237480 INPPL1 NM_001567.3:c.768_769delAG NP_001558.3:p.Glu258Alafs NM_001567.3:c.768_769delAG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 08, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 0 0 +11 72232260 G A 72232260 72232260 Distinct chromosomes 488055 RCV000577875 SCV000583573 481067 SH3PXD2B NM_001567.3:c.1636G>A NP_001558.3:p.Val546Ile NM_001567.3:c.1636G>A:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Jun 01, 2017 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Frank Ter Haar syndrome;Opsismodysplasia 1;20137777;29276006 unknown Genetic Alliance:Frank+Ter+Haar+Syndrome/2915;Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;MedGen:C1855305;OMIM:249420;OMIM:258480;Office of Rare Diseases:4098;Office of Rare Diseases:5138;Orphanet:137834;Orphanet:2746;SNOMED CT:254068007 2017-06-01 0 0 11 72232303 GTCACC G 72232311 72232315 + Haplotype 235823 RCV000224773 SCV000281677 237481 INPPL1 NM_001567.3:c.1687_1691delACCTC NP_001558.3:p.Thr563Glyfs NM_001567.3:c.1687_1691delACCTC:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 08, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 unknown Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 0 0 11 72234616 G A 72234616 72234616 + Haplotype 235825 RCV000224914 SCV000281680 48075 INPPL1 NM_001567.3:c.2415+1G>A NM_001567.3:c.2415+1G>A:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 04, 2013 University of Washington Center for Mendelian Genomics, University of Washington University of Washington Center for Mendelian Genomics, University of Washington Opsismodysplasia 23273567 inherited Genetic Alliance:Opsismodysplasia/5372;MedGen:C0432219;OMIM:258480;Office of Rare Diseases:4098;Orphanet:2746;SNOMED CT:254068007 2013-01-08 0 0 11 121166652 C T 121166652 121166652 + Haplotype 7013 RCV000007428 SCV000027628 22052 TECTA NM_005422.2:c.5458C>T NP_005413.2:p.Leu1820Phe NM_005422.2:c.5458C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 1998 OMIM OMIM Deafness, autosomal dominant 12;DEAFNESS, AUTOSOMAL DOMINANT 12 20301607;9590290 germline Genetic Alliance:Deafness%2C+autosomal+dominant+12/8133;MedGen:C1832187;OMIM:601543;Orphanet:90635 1998-05-01 0 0 11 121166665 G A 121166665 121166665 + Haplotype 7013 RCV000007428 SCV000027628 38440 TECTA NM_005422.2:c.5471G>A NP_005413.2:p.Gly1824Asp NM_005422.2:c.5471G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 1998 OMIM OMIM Deafness, autosomal dominant 12;DEAFNESS, AUTOSOMAL DOMINANT 12 20301607;9590290 germline Genetic Alliance:Deafness%2C+autosomal+dominant+12/8133;MedGen:C1832187;OMIM:601543;Orphanet:90635 1998-05-01 0 0 -12 57500406 G A 57500406 57500406 + Haplotype 189364 RCV000169765;RCV000173000 SCV000196708;SCV000224019 187252 MARS NM_004990.3:c.1177G>A NP_004981.2:p.Ala393Thr NM_004990.3:c.1177G>A:missense variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 07, 2015 Institute of Human Genetics, Klinikum rechts der Isar;OMIM Institute of Human Genetics, Klinikum rechts der Isar;OMIM Pulmonary alveolar proteinosis;Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C0034050;SNOMED CT:10501004;MedGen:C3809651;OMIM:615486 2014-12-02;2015-05-07 0 0 -12 57512300 C T 57512300 57512300 + Haplotype 189364 RCV000169765;RCV000173000 SCV000196708;SCV000224019 187253 MARS NM_004990.3:c.1700C>T NP_004981.2:p.Ser567Leu NM_004990.3:c.1700C>T:missense variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 07, 2015 Institute of Human Genetics, Klinikum rechts der Isar;OMIM Institute of Human Genetics, Klinikum rechts der Isar;OMIM Pulmonary alveolar proteinosis;Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C0034050;SNOMED CT:10501004;MedGen:C3809651;OMIM:615486 2014-12-02;2015-05-07 0 0 -12 80358880 A G 80358880 80358880 + Haplotype 229122 RCV000217831 SCV000272283 230419 OTOGL NM_173591.3:c.6220A>G NP_775862.3:p.Ile2074Val NM_173591.3:c.6220A>G:missense variant Benign uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Dec 01, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-01 0 0 +12 57500406 G A 57500406 57500406 + Haplotype 189364 RCV000169765;RCV000173000 SCV000196708;SCV000224019 187252 MARS NM_004990.3:c.1177G>A NP_004981.2:p.Ala393Thr NM_004990.3:c.1177G>A:missense variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 07, 2015 Institute of Human Genetics, Klinikum rechts der Isar;OMIM Institute of Human Genetics, Klinikum rechts der Isar;OMIM Pulmonary alveolar proteinosis;Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C0034050;SNOMED CT:10501004;MedGen:C4225400;OMIM:615486 2014-12-02;2015-05-07 0 0 +12 57512300 C T 57512300 57512300 + Haplotype 189364 RCV000169765;RCV000173000 SCV000196708;SCV000224019 187253 MARS NM_004990.3:c.1700C>T NP_004981.2:p.Ser567Leu NM_004990.3:c.1700C>T:missense variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 07, 2015 Institute of Human Genetics, Klinikum rechts der Isar;OMIM Institute of Human Genetics, Klinikum rechts der Isar;OMIM Pulmonary alveolar proteinosis;Interstitial lung and liver disease;INTERSTITIAL LUNG AND LIVER DISEASE 25913036 germline MedGen:C0034050;SNOMED CT:10501004;MedGen:C4225400;OMIM:615486 2014-12-02;2015-05-07 0 0 +12 80358880 A G 80358880 80358880 + Haplotype 229122 RCV000217831 SCV000272283 230419 OTOGL NM_173591.3:c.6220A>G NP_775862.3:p.Ile2074Val NM_173591.3:c.6220A>G:missense variant Benign uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 01, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-01 1 0 12 80358881 T C 80358881 80358881 + Haplotype 229122 RCV000217831 SCV000272283 230420 OTOGL NM_173591.3:c.6221T>C NP_775862.3:p.Ile2074Thr NM_173591.3:c.6221T>C:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Dec 01, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-12-01 0 0 12 101757254 G A 101757254 101757254 - Haplotype 39094 RCV000032361 SCV000056008 47698 GNPTAB NM_024312.4:c.3392C>T NP_077288.2:p.Ser1131Phe NM_024312.4:c.3392C>T:missense variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 10, 2012 GeneReviews GeneReviews I cell disease;Mucolipidosis II 20301728 not provided GeneReviews:NBK1828;Genetic Alliance:Mucolipidosis+II/3706;Genetics Home Reference:mucolipidosis-ii-alpha-beta;MedGen:C2673377;OMIM:252500;Office of Rare Diseases:6749;Orphanet:576 2012-05-10 0 0 12 101757256 A AG 101757257 101757258 - Haplotype 39094 RCV000032361 SCV000056008 47699 GNPTAB NM_024312.4:c.3388_3389insC NP_077288.2:p.Val1130Alafs NM_024312.4:c.3388_3389insC:frameshift variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 10, 2012 GeneReviews GeneReviews I cell disease;Mucolipidosis II 20301728 not provided GeneReviews:NBK1828;Genetic Alliance:Mucolipidosis+II/3706;Genetics Home Reference:mucolipidosis-ii-alpha-beta;MedGen:C2673377;OMIM:252500;Office of Rare Diseases:6749;Orphanet:576 2012-05-10 0 0 @@ -288,42 +315,54 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 12 101761696 T C 101761696 101761696 - Haplotype 39093 RCV000032360 SCV000056007 47697 GNPTAB NM_024312.4:c.2783A>G NP_077288.2:p.Lys928Arg NM_024312.4:c.2783A>G:missense variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 10, 2012 GeneReviews GeneReviews I cell disease;Mucolipidosis II 20301728 not provided GeneReviews:NBK1828;Genetic Alliance:Mucolipidosis+II/3706;Genetics Home Reference:mucolipidosis-ii-alpha-beta;MedGen:C2673377;OMIM:252500;Office of Rare Diseases:6749;Orphanet:576 2012-05-10 0 0 12 101780579 T G 101780579 101780579 - Haplotype 39095 RCV000032362 SCV000056009 47700 GNPTAB NM_024312.4:c.614A>C NP_077288.2:p.Gln205Pro NM_024312.4:c.614A>C:missense variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 10, 2012 GeneReviews GeneReviews I cell disease;Mucolipidosis II 20301728 not provided GeneReviews:NBK1828;Genetic Alliance:Mucolipidosis+II/3706;Genetics Home Reference:mucolipidosis-ii-alpha-beta;MedGen:C2673377;OMIM:252500;Office of Rare Diseases:6749;Orphanet:576 2012-05-10 0 0 12 101786038 A T 101786038 101786038 - Haplotype 39095 RCV000032362 SCV000056009 47701 GNPTAB NM_024312.4:c.545T>A NP_077288.2:p.Val182Asp NM_024312.4:c.545T>A:missense variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 10, 2012 GeneReviews GeneReviews I cell disease;Mucolipidosis II 20301728 not provided GeneReviews:NBK1828;Genetic Alliance:Mucolipidosis+II/3706;Genetics Home Reference:mucolipidosis-ii-alpha-beta;MedGen:C2673377;OMIM:252500;Office of Rare Diseases:6749;Orphanet:576 2012-05-10 0 0 -12 102852903 G A 102852903 102852903 - Haplotype 217885 RCV000201954 SCV000256881 15623 PAH NM_000277.2:c.754C>T NP_000268.1:p.Arg252Trp NM_000277.2:c.754C>T:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 26, 2016 Mendelics Analise Genomica Mendelics Analise Genomica Phenylketonuria 20301677;21915151;24385074;24667081;2574153;9429153 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2014-08-07 0 0 +12 102852903 G A 102852903 102852903 - Haplotype 217885 RCV000201954 SCV000256881 15623 PAH NM_000277.2:c.754C>T NP_000268.1:p.Arg252Trp NM_000277.2:c.754C>T:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Aug 07, 2017 Mendelics Analise Genomica Mendelics Analise Genomica Phenylketonuria 20301677;21915151;24385074;24667081;2574153;9429153 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2014-08-07 2 0 12 102852922 C T 102852922 102852922 - Haplotype 402236 RCV000454199 SCV000538053 98655 PAH NM_000277.2:c.735G>A NP_000268.1:p.Val245= NM_000277.2:c.735G>A:synonymous variant Benign likely pathogenic 0 1 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 Knight Diagnostic Laboratories,Oregon Health and Sciences University Knight Diagnostic Laboratories,Oregon Health and Sciences University Phenylketonuria 20301677;21915151;24385074;24667081;25741868 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2015-08-13 2 0 12 102852934 GC G 102852935 102852935 - Haplotype 402236 RCV000454199 SCV000538053 108542 PAH NM_000277.2:c.722delG NP_000268.1:p.Arg241Profs NM_000277.2:c.722delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Aug 13, 2015 Knight Diagnostic Laboratories,Oregon Health and Sciences University Knight Diagnostic Laboratories,Oregon Health and Sciences University Phenylketonuria 20301677;21915151;24385074;24667081;25741868 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2015-08-13 0 0 12 102878057 C A 102878057 102878057 - Haplotype 217885 RCV000201954 SCV000256881 214540 PAH NM_000277.2:c.353-507G>T NM_000277.2:c.353-507G>T:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 07, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Phenylketonuria 20301677;21915151;24385074;24667081;2574153;9429153 loss of function germline GeneReviews:NBK1504;Genetic Alliance:Phenylketonuria/5714;Genetic Testing Registry (GTR):GTR000260641;Genetic Testing Registry (GTR):GTR000330994;Genetic Testing Registry (GTR):GTR000505064;Genetic Testing Registry (GTR):GTR000505124;Genetic Testing Registry (GTR):GTR000506557;Genetic Testing Registry (GTR):GTR000507953;Genetic Testing Registry (GTR):GTR000509046;Genetic Testing Registry (GTR):GTR000522527;MedGen:C0031485;OMIM:261600;Office of Rare Diseases:7383;Orphanet:716;SNOMED CT:154735006 2014-08-07 0 0 -13 20189174 G T 20189174 20189174 - Haplotype 267367 RCV000258130 SCV000328260;SCV000599732 186856 GJB2 NM_004004.5:c.408C>A NP_003995.2:p.Tyr136Ter NM_004004.5:c.408C>A:nonsense Likely pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter May 09, 2017 OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A;Deafness, autosomal recessive 1A 1;12560944;15633193;20301449;20301607;20497192;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2010-11-01;2017-05-09 0 0 +12 109783751 A T 109783751 109783751 - Haplotype 378057 RCV000435546 SCV000513422 472257 TRPV4 NM_021625.4:c.2486T>A NP_067638.3:p.Val829Glu NM_021625.4:c.2486T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 03, 2017 OMIM OMIM Avascular necrosis of femoral head, primary, 2;AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 (1 family) 27330106 germline MedGen:CN240839;OMIM:617383 2017-03-03 0 0 +12 109783752 CGCGG C 109783753 109783756 - Haplotype 378057 RCV000435546 SCV000513422 380146 TRPV4 NM_021625.4:c.2481_2484delCCGC NP_067638.3:p.Arg828Trpfs NM_021625.4:c.2481_2484delCCGC:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 03, 2017 OMIM OMIM Avascular necrosis of femoral head, primary, 2;AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 (1 family) 27330106 germline MedGen:CN240839;OMIM:617383 2017-03-03 0 0 +13 20189174 G T 20189174 20189174 - Haplotype 267367;446728 RCV000258130;RCV000516165 SCV000599732;SCV000328260 186856 GJB2 NM_004004.5:c.408C>A NP_003995.2:p.Tyr136Ter NM_004004.5:c.408C>A:nonsense Likely pathogenic pathogenic 2 0 0 0 0 no assertion for the individual variant criteria provided, single submitter;no assertion criteria provided May 09, 2017 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;OMIM Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;OMIM Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A 1;20301449;20301607;20497192;12560944;15633193;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2017-05-09;2010-11-01 0 0 13 20189241 T C 20189241 20189241 - Haplotype 177819 RCV000154452 SCV000204121 53906 GJB2 NM_004004.5:c.341A>G NP_003995.2:p.Glu114Gly NM_004004.5:c.341A>G:missense variant Conflicting interpretations of pathogenicity likely benign 0 0 0 1 0 criteria provided, conflicting interpretations criteria provided, single submitter May 09, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 10607953;10983956;12746422;15070423;17041943;17666888;20083784;20201936;20668687;21298213;23826813;24033266;9529365 germline MedGen:CN169374 2015-07-28 1 1 -13 20189448 C T 20189448 20189448 - Haplotype 267367 RCV000258130 SCV000328260;SCV000599732 32072 GJB2 NM_004004.5:c.134G>A NP_003995.2:p.Gly45Glu NM_004004.5:c.134G>A:missense variant Pathogenic/Likely pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter May 09, 2017 OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A;Deafness, autosomal recessive 1A 1;12560944;15633193;20301449;20301607;20497192;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2010-11-01;2017-05-09 0 0 +13 20189448 C T 20189448 20189448 - Haplotype 267367;446728 RCV000258130;RCV000516165 SCV000599732;SCV000328260 32072 GJB2 NM_004004.5:c.134G>A NP_003995.2:p.Gly45Glu NM_004004.5:c.134G>A:missense variant Pathogenic/Likely pathogenic pathogenic 2 0 0 0 0 criteria provided, single submitter criteria provided, single submitter;no assertion criteria provided May 09, 2017 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;OMIM Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;OMIM Deafness, autosomal recessive 1A;DEAFNESS, AUTOSOMAL RECESSIVE 1A 1;20301449;20301607;20497192;12560944;15633193;24785414 germline GeneReviews:NBK1272;Genetic Alliance:Deafness%2C+autosomal+recessive+1A/8159;MedGen:C2673759;OMIM:220290;Office of Rare Diseases:1697;Orphanet:90636 2017-05-09;2010-11-01 1 0 13 20189503 C T 20189503 20189503 - Haplotype 177819 RCV000154452 SCV000204121 44943 GJB2 NM_004004.5:c.79G>A NP_003995.2:p.Val27Ile NM_004004.5:c.79G>A:missense variant Conflicting interpretations of pathogenicity likely benign 0 0 0 1 0 no assertion for the individual variant criteria provided, single submitter May 09, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 10607953;10983956;12746422;15070423;17041943;17666888;20083784;20201936;20668687;21298213;23826813;24033266;9529365 germline MedGen:CN169374 2015-07-28 0 1 +13 23354972 G A 23354972 23354972 - Haplotype 424657 RCV000515975 SCV000574461 327819 SACS NM_014363.5:c.1640C>T NP_055178.3:p.Pro547Leu NM_014363.5:c.1640C>T:missense variant Uncertain significance likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Mar 07, 2017 Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Hereditary spastic paraplegia 20301682;28832565 loss of function inherited GeneReviews:NBK1509;Genetic Alliance:Hereditary+spastic+paraplegia/3383;Genetic Testing Registry (GTR):GTR000500041;Genetic Testing Registry (GTR):GTR000500218;Genetic Testing Registry (GTR):GTR000500428;Genetic Testing Registry (GTR):GTR000508756;Genetic Testing Registry (GTR):GTR000525862;Genetic Testing Registry (GTR):GTR000525863;Genetic Testing Registry (GTR):GTR000528277;Genetic Testing Registry (GTR):GTR000529007;MedGen:C0037773;OMIM:PS303350;Office of Rare Diseases:6637;Orphanet:ORPHA685;SNOMED CT:39912006 2017-03-07 1 0 +13 23354978 C A 23354978 23354978 - Haplotype 424657 RCV000515975 SCV000574461 411584 SACS NM_014363.5:c.1634G>T NP_055178.3:p.Trp545Leu NM_014363.5:c.1634G>T:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Mar 07, 2017 Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde Hereditary spastic paraplegia 20301682;28832565 loss of function inherited GeneReviews:NBK1509;Genetic Alliance:Hereditary+spastic+paraplegia/3383;Genetic Testing Registry (GTR):GTR000500041;Genetic Testing Registry (GTR):GTR000500218;Genetic Testing Registry (GTR):GTR000500428;Genetic Testing Registry (GTR):GTR000508756;Genetic Testing Registry (GTR):GTR000525862;Genetic Testing Registry (GTR):GTR000525863;Genetic Testing Registry (GTR):GTR000528277;Genetic Testing Registry (GTR):GTR000529007;MedGen:C0037773;OMIM:PS303350;Office of Rare Diseases:6637;Orphanet:ORPHA685;SNOMED CT:39912006 2017-03-07 0 0 13 51941111 C T 51941111 51941111 - Haplotype 3863 RCV000004067 SCV000024233 38430 ATP7B NM_000053.3:c.3526G>A NP_000044.2:p.Gly1176Arg NM_000053.3:c.3526G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 2005 OMIM OMIM Wilson disease;WILSON DISEASE 15845031;18506894;20301685;20482602;27854360 loss of function germline GeneReviews:NBK1512;Genetic Alliance:Wilson+disease/7506;Genetic Testing Registry (GTR):GTR000260623;Genetic Testing Registry (GTR):GTR000501125;Genetic Testing Registry (GTR):GTR000503091;Genetic Testing Registry (GTR):GTR000507952;Genetic Testing Registry (GTR):GTR000508735;Genetic Testing Registry (GTR):GTR000509712;Genetic Testing Registry (GTR):GTR000515523;Genetic Testing Registry (GTR):GTR000520457;Genetic Testing Registry (GTR):GTR000521900;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528632;Genetic Testing Registry (GTR):GTR000528928;Genetic Testing Registry (GTR):GTR000530035;Genetic Testing Registry (GTR):GTR000530097;Genetic Testing Registry (GTR):GTR000552345;Genetic Testing Registry (GTR):GTR000553937;Genetics Home Reference:wilson-disease;MedGen:C0019202;OMIM:277900;Office of Rare Diseases:7893;Orphanet:905;SNOMED CT:88518009 2005-05-01 0 0 13 51941194 A G 51941194 51941194 - Haplotype 3863 RCV000004067 SCV000024233 18902 ATP7B NM_000053.3:c.3443T>C NP_000044.2:p.Ile1148Thr NM_000053.3:c.3443T>C:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Sep 10, 2014 OMIM OMIM Wilson disease;WILSON DISEASE 15845031;18506894;20301685;20482602;27854360 loss of function germline GeneReviews:NBK1512;Genetic Alliance:Wilson+disease/7506;Genetic Testing Registry (GTR):GTR000260623;Genetic Testing Registry (GTR):GTR000501125;Genetic Testing Registry (GTR):GTR000503091;Genetic Testing Registry (GTR):GTR000507952;Genetic Testing Registry (GTR):GTR000508735;Genetic Testing Registry (GTR):GTR000509712;Genetic Testing Registry (GTR):GTR000515523;Genetic Testing Registry (GTR):GTR000520457;Genetic Testing Registry (GTR):GTR000521900;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528632;Genetic Testing Registry (GTR):GTR000528928;Genetic Testing Registry (GTR):GTR000530035;Genetic Testing Registry (GTR):GTR000530097;Genetic Testing Registry (GTR):GTR000552345;Genetic Testing Registry (GTR):GTR000553937;Genetics Home Reference:wilson-disease;MedGen:C0019202;OMIM:277900;Office of Rare Diseases:7893;Orphanet:905;SNOMED CT:88518009 2005-05-01 1 0 13 103049423 G A 103049423 103049423 - Haplotype 8241 RCV000008724 SCV000028933 38442 SLC10A2 NM_000452.2:c.785C>T NP_000443.1:p.Thr262Met NM_000452.2:c.785C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 15, 1997 OMIM OMIM Bile acid malabsorption, primary;BILE ACID MALABSORPTION, PRIMARY 9109432 germline Genetic Alliance:Bile+acid+malabsorption%2C+primary/7818;MedGen:C2750087;OMIM:613291 1997-04-15 0 0 13 103051290 A G 103051290 103051290 - Haplotype 8241 RCV000008724 SCV000028933 23280 SLC10A2 NM_000452.2:c.728T>C NP_000443.1:p.Leu243Pro NM_000452.2:c.728T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 15, 1997 OMIM OMIM Bile acid malabsorption, primary;BILE ACID MALABSORPTION, PRIMARY 9109432 germline Genetic Alliance:Bile+acid+malabsorption%2C+primary/7818;MedGen:C2750087;OMIM:613291 1997-04-15 0 0 -14 28767842 C G 28767842 28767842 + Phase unknown 189607 RCV000170068 SCV000222377 169055 FOXG1 NM_005249.4:c.563C>G NP_005240.3:p.Ala188Gly NM_005249.4:c.563C>G:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Feb 08, 2013 RettBASE RettBASE not provided;Not provided de novo MedGen:CN221809 2011-02-15 1 0 -14 28767923 TC CT 28767923 28767924 + Phase unknown 189607 RCV000170068 SCV000222377 187407 FOXG1 NM_005249.4:c.644_645delTCinsCT NP_005240.3:p.Phe215Ser NM_005249.4:c.644_645delTCinsCT:missense variant Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 08, 2013 RettBASE RettBASE not provided;Not provided de novo MedGen:CN221809 2011-02-15 0 0 -14 31562125 G A 31562125 31562125 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 15046 NUBPL NM_025152.2:c.166G>A NP_079428.2:p.Gly56Arg NM_025152.2:c.166G>A:missense variant;NR_120408.1:n.221G>A:non-coding transcript variant Uncertain significance pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Feb 22, 2017 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-05-02;2014-04-09 1 0 -14 31850092 T C 31850092 31850092 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 59458 NUBPL NM_025152.2:c.815-27T>C NM_025152.2:c.815-27T>C:intron variant Conflicting interpretations of pathogenicity pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter Feb 09, 2017 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-05-02;2014-04-09 0 1 +14 23425798 G A 23425798 23425798 - Haplotype 487487 RCV000015167 SCV000035424 29150 MYH7 NM_000257.3:c.2183C>T NP_000248.2:p.Ala728Val NM_000257.3:c.2183C>T:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 27, 2017 OMIM OMIM Familial hypertrophic cardiomyopathy 1;CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 11424919;20301559;20301725;21267010;23788249;25173338;25356965;27854360 germline GeneReviews:NBK1768;Genetic Alliance:Familial+hypertrophic+cardiomyopathy+1/8382;MedGen:C3495498;OMIM:192600 2001-06-01 2 0 +14 23427657 C T 23427657 23427657 - Haplotype 487487 RCV000015167 SCV000035424 29130 MYH7 NM_000257.3:c.1816G>A NP_000248.2:p.Val606Met NM_000257.3:c.1816G>A:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 13, 2017 OMIM OMIM Familial hypertrophic cardiomyopathy 1;CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1 11424919;20301559;20301725;21267010;23788249;25173338;25356965;27854360 germline GeneReviews:NBK1768;Genetic Alliance:Familial+hypertrophic+cardiomyopathy+1/8382;MedGen:C3495498;OMIM:192600 2001-06-01 2 0 +14 28767842 C G 28767842 28767842 + Phase unknown 189607 RCV000170068 SCV000222377 169055 FOXG1 NM_005249.4:c.563C>G NP_005240.3:p.Ala188Gly NM_005249.4:c.563C>G:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Feb 08, 2013 RettBASE RettBASE not provided;Not provided de novo MedGen:CN517202 2011-02-15 1 0 +14 28767923 TC CT 28767923 28767924 + Phase unknown 189607 RCV000170068 SCV000222377 187407 FOXG1 NM_005249.4:c.644_645delTCinsCT NP_005240.3:p.Phe215Ser NM_005249.4:c.644_645delTCinsCT:missense variant Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 08, 2013 RettBASE RettBASE not provided;Not provided de novo MedGen:CN517202 2011-02-15 0 0 +14 31562125 G A 31562125 31562125 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 15046 NUBPL NM_025152.2:c.166G>A NP_079428.2:p.Gly56Arg NM_025152.2:c.166G>A:missense variant;NR_120408.1:n.221G>A:non-coding transcript variant Uncertain significance pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Feb 22, 2017 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-04-23;2014-04-09 1 0 +14 31850092 T C 31850092 31850092 + Haplotype 7 RCV000000017 SCV000020160;SCV000245520 59458 NUBPL NM_025152.2:c.815-27T>C NM_025152.2:c.815-27T>C:intron variant Conflicting interpretations of pathogenicity pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter Aug 14, 2017 OMIM;Baylor Miraca Genetics Laboratories OMIM;Baylor Miraca Genetics Laboratories Mitochondrial complex I deficiency;MITOCHONDRIAL COMPLEX I DEFICIENCY;Mitochondrial complex I deficiency 20818383;22072591;23553477;24088041;26633545 germline;maternal;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 2013-04-23;2014-04-09 0 1 14 50911725 AGTAC A 50911726 50911729 - Haplotype 38368 RCV000020505 SCV000040956 46929 PYGL NM_002863.4:c.1969+1_1969+4delGTAC NM_002863.4:c.1969+1_1969+4delGTAC:intron variant - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 17, 2011 GeneReviews GeneReviews Glycogen storage disease, type VI;Glycogen Storage Disease Type VI 17705025;20301760 not provided GeneReviews:NBK5941;Genetic Alliance:Glycogen+Storage+Disease+Type+6/3126;MedGen:C0017925;OMIM:232700;Office of Rare Diseases:6529;Orphanet:369;SNOMED CT:237971004;SNOMED CT:29291001 2011-05-17 0 0 14 50911730 CTTTTT AAAAAG 50911730 50911735 - Haplotype 38368 RCV000020505 SCV000040956 46930 PYGL NM_002863.4:c.1964_1969invAAAAAG NP_002854.3:p.Glu655_Lys656del - pathologic 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 17, 2011 GeneReviews GeneReviews Glycogen storage disease, type VI;Glycogen Storage Disease Type VI 17705025;20301760 not provided GeneReviews:NBK5941;Genetic Alliance:Glycogen+Storage+Disease+Type+6/3126;MedGen:C0017925;OMIM:232700;Office of Rare Diseases:6529;Orphanet:369;SNOMED CT:237971004;SNOMED CT:29291001 2011-05-17 0 0 14 75103841 C A 75103841 75103841 - Haplotype 242987 RCV000234965 SCV000292296 248590 NEK9 NM_033116.5:c.1731+1G>T NM_033116.5:c.1731+1G>T:splice donor variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 11, 2016 OMIM OMIM Nevus comedonicus;NEVUS COMEDONICUS, SOMATIC 27153399 somatic MedGen:C0265987;OMIM:617025 2016-07-11 0 0 14 75103858 C A 75103858 75103858 - Haplotype 242987 RCV000234965 SCV000292296 244069 NEK9 NM_033116.5:c.1715G>T NP_149107.4:p.Gly572Val NM_033116.5:c.1715G>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 11, 2016 OMIM OMIM Nevus comedonicus;NEVUS COMEDONICUS, SOMATIC 27153399 somatic MedGen:C0265987;OMIM:617025 2016-07-11 0 0 -14 94380925 T A 94380925 94380925 - Haplotype 440500;440501 RCV000508742;RCV000508836 SCV000605935;SCV000605936 33008 SERPINA1 NM_001127701.1:c.863A>T NP_001121173.1:p.Glu288Val NM_001127701.1:c.863A>T:missense variant Pathogenic, other pathogenic 2 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Feb 24, 2017 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency;Alpha-1 Antitrypsin Deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2016-07-12;2015-11-13 0 0 +14 94380925 T A 94380925 94380925 - Haplotype 440500;440501 RCV000508742;RCV000508836 SCV000605935;SCV000605936 33008 SERPINA1 NM_001127701.1:c.863A>T NP_001121173.1:p.Glu288Val NM_001127701.1:c.863A>T:missense variant Pathogenic, other pathogenic 2 0 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 23, 2017 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency;Alpha-1 Antitrypsin Deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2016-07-12;2015-11-13 2 0 14 94381049 G A 94381049 94381049 - Haplotype 219354 RCV000205893 SCV000259189 33000 SERPINA1 NM_001127707.1:c.739C>T NP_001121179.1:p.Arg247Cys NM_001127701.1:c.739C>T:missense variant Conflicting interpretations of pathogenicity, other pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Jul 15, 2016 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2015-07-23 1 1 14 94382636 T C 94382636 94382636 - Haplotype 440500 RCV000508742 SCV000605935 434125 SERPINA1 NM_001127701.1:c.602A>G NP_001121173.1:p.Asp201Gly NM_001127701.1:c.602A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jul 12, 2016 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency;Alpha-1 Antitrypsin Deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2016-07-12 0 0 -14 94382724 C T 94382724 94382724 - Haplotype 17972 RCV000019572 SCV000039869 33011 SERPINA1 NM_001127701.1:c.514G>A NP_001121173.1:p.Gly172Arg NM_001127701.1:c.514G>A:missense variant Uncertain significance other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 15, 2016 OMIM OMIM PI M(NICHINAN);PI M(NICHINAN) 2309708;6162902 germline OMIM:107400.0017 2016-07-15 0 0 +14 94382724 C T 94382724 94382724 - Haplotype 17972 RCV000019572 SCV000039869 33011 SERPINA1 NM_001127701.1:c.514G>A NP_001121173.1:p.Gly172Arg NM_001127701.1:c.514G>A:missense variant Uncertain significance other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 15, 2016 OMIM OMIM PI M(NICHINAN);PI M(NICHINAN) 2309708;6162902 germline OMIM:107400.0017 2016-07-15 0 0 14 94383008 GAGA G 94383009 94383011 - Haplotype 17972 RCV000019572 SCV000039869 321860 SERPINA1 NM_001127701.1:c.227_229delTCT NP_001121173.1:p.Phe76del NM_001127701.1:c.227_229delTCT:inframe_variant Pathogenic, other other 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jul 15, 2016 OMIM OMIM PI M(NICHINAN);PI M(NICHINAN) 2309708;6162902 germline OMIM:107400.0017 2016-07-15 2 0 14 94383048 G T 94383048 94383048 - Haplotype 440501 RCV000508836 SCV000605936 434128 SERPINA1 NM_001127701.1:c.190C>A NP_001121173.1:p.Gln64Lys NM_001127701.1:c.190C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Nov 13, 2015 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency;Alpha-1 Antitrypsin Deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2015-11-13 0 0 14 94383051 G A 94383051 94383051 - Haplotype 219354 RCV000205893 SCV000259189 33013 SERPINA1 NM_001127701.1:c.187C>T NP_001121173.1:p.Arg63Cys NM_001127701.1:c.187C>T:missense variant Conflicting interpretations of pathogenicity, other pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Oct 11, 2016 HerediLab, Inc. HerediLab, Inc. Alpha-1-antitrypsin deficiency 15685488;20301692;24121147 germline GeneReviews:NBK1519;Genetic Alliance:Alpha+1-Antitrypsin+Deficiency/325;MedGen:C0221757;OMIM:613490;Office of Rare Diseases:5784;Orphanet:60;SNOMED CT:30188007 2015-07-23 1 1 +15 40471616 C G 40471616 40471616 + Haplotype 446172 RCV000002428 SCV000022586 439519 CHST14 NM_130468.3:c.403C>G NP_569735.1:p.Arg135Gly NM_130468.3:c.403C>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 01, 2009 OMIM OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007;20004762 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 2009-12-01 0 0 +15 40471623 T A 40471623 40471623 + Haplotype 446172 RCV000002428 SCV000022586 439520 CHST14 NM_130468.3:c.410T>A NP_569735.1:p.Leu137Gln NM_130468.3:c.410T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 01, 2009 OMIM OMIM Ehlers-Danlos syndrome, musculocontractural type;EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 11666007;20004762 germline Genetic Alliance:Adducted+Thumb+and+Clubfoot+Syndrome/216;Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C1866294;OMIM:601776;Orphanet:2953 2009-12-01 0 0 +15 48744948 CGTT C 48744949 48744951 - Haplotype 446758 RCV000077752 SCV000109558 97524 CEP152 - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 2013 OMIM OMIM Primary autosomal recessive microcephaly 9;MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 20301772;22775483 germline GeneReviews:NBK9587;GeneTests:279904;MedGen:C3553886;OMIM:614852;Orphanet:2512 2013-05-01 0 0 +15 48756099 A G 48756099 48756099 - Haplotype 446758 RCV000077752 SCV000109558 97321 CEP152 NM_001194998.1:c.3149T>C NP_001181927.1:p.Leu1050Pro NM_001194998.1:c.3149T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 2013 OMIM OMIM Primary autosomal recessive microcephaly 9;MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE 20301772;22775483 germline GeneReviews:NBK9587;GeneTests:279904;MedGen:C3553886;OMIM:614852;Orphanet:2512 2013-05-01 0 0 15 50490429 T G 50490429 50490429 + Haplotype 161994 RCV000149419 SCV000192010 171716 USP8 NM_005154.4:c.2138T>G NP_005145.3:p.Leu713Arg NM_001128610.2:c.2138T>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 18, 2014 Institute of Human Genetics, Klinikum rechts der Isar Institute of Human Genetics, Klinikum rechts der Isar Pituitary dependent hypercortisolism;Pituitary dependent hypercortisolism 22720333 somatic GeneReviews:NBK97965;Genetic Alliance:Pituitary+dependent+hypercortisolism/9118;MedGen:C0221406;OMIM:219090;Orphanet:96253;SNOMED CT:190502001 2014-11-18 0 0 15 50490441 A G 50490441 50490441 + Haplotype 161994 RCV000149419 SCV000192010 171717 USP8 NM_005154.4:c.2150A>G NP_005145.3:p.Tyr717Cys NM_001128610.2:c.2150A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 18, 2014 Institute of Human Genetics, Klinikum rechts der Isar Institute of Human Genetics, Klinikum rechts der Isar Pituitary dependent hypercortisolism;Pituitary dependent hypercortisolism 22720333 somatic GeneReviews:NBK97965;Genetic Alliance:Pituitary+dependent+hypercortisolism/9118;MedGen:C0221406;OMIM:219090;Orphanet:96253;SNOMED CT:190502001 2014-11-18 0 0 15 50958492 G A 50958492 50958492 + Haplotype 224506 RCV000210065 SCV000265991 226246 AP4E1 NM_007347.4:c.1549G>A NP_031373.2:p.Val517Ile NM_007347.4:c.1549G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 16, 2016 OMIM OMIM Stuttering, familial persistent 1;STUTTERING, FAMILIAL PERSISTENT, 1 23239121;26544806 germline Gene:100049541;MedGen:C3489627;OMIM:184450 2016-03-16 0 0 15 50997380 G A 50997380 50997380 + Haplotype 224506 RCV000210065 SCV000265991 226245 AP4E1 NM_007347.4:c.2401G>A NP_031373.2:p.Glu801Lys NM_007347.4:c.2401G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 16, 2016 OMIM OMIM Stuttering, familial persistent 1;STUTTERING, FAMILIAL PERSISTENT, 1 23239121;26544806 germline Gene:100049541;MedGen:C3489627;OMIM:184450 2016-03-16 0 0 -15 89323426 C G 89323426 89323426 - Phase unknown 157526 RCV000144870 SCV000172142 28546 POLG NM_002693.2:c.2243G>C NP_002684.1:p.Trp748Ser NM_002693.2:c.2243G>C:missense variant Pathogenic uncertain significance 0 0 1 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Apr 07, 2017 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547;15824347;20301532;22189570;25025039;28812649 not applicable GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 2 0 -15 89327006 C G 89327006 89327006 - Phase unknown 157526 RCV000144870 SCV000172142 28549 POLG NM_002693.2:c.1491G>C NP_002684.1:p.Gln497His NM_002693.2:c.1491G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 criteria provided, conflicting interpretations no assertion criteria provided Mar 11, 2016 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547;15824347;20301532;22189570;25025039;28812649 not applicable GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 1 1 +15 72351207 C T 72351207 72351207 - Haplotype 446267 RCV000004129 SCV000024295 38431 HEXA NM_000520.5:c.598G>A NP_000511.2:p.Val200Met NM_000520.5:c.598G>A:missense variant;NR_134869.1:n.1099G>A:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 1996 OMIM OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222;2976595;8198136;8659543 germline MedGen:C1848916 1996-07-01 0 0 +15 72351231 C G 72351231 72351231 - Haplotype 446267 RCV000004129 SCV000024295 18962 HEXA NM_000520.5:c.574G>C NP_000511.2:p.Val192Leu NM_000520.5:c.574G>C:missense variant;NR_134869.1:n.1075G>C:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 1996 OMIM OMIM Tay-Sachs disease, B1 variant;TAY-SACHS DISEASE, B1 VARIANT 1415222;2976595;8198136;8659543 germline MedGen:C1848916 1996-07-01 0 0 +15 89323426 C G 89323426 89323426 - Phase unknown 157526 RCV000144870 SCV000172142 28546 POLG NM_002693.2:c.2243G>C NP_002684.1:p.Trp748Ser NM_002693.2:c.2243G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jul 14, 2017 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547;15824347;20301532;22189570;25025039;28812649 not applicable GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 1 1 +15 89327006 C G 89327006 89327006 - Phase unknown 157526 RCV000144870 SCV000172142 28549 POLG NM_002693.2:c.1491G>C NP_002684.1:p.Gln497His NM_002693.2:c.1491G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance 0 0 1 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jul 21, 2017 Section of Medical Genetics, Telemark Hospital Section of Medical Genetics, Telemark Hospital Charcot-Marie-Tooth disease;axonal type;Charcot-Marie-Tooth disease 15477547;15824347;20301532;22189570;25025039;28812649 not applicable GeneReviews:NBK1358;Genetic Alliance:Charcot-Marie-Tooth+Disease/1276;Genetics Home Reference:charcot-marie-tooth-disease;MedGen:C0007959;OMIM:PS118220;Office of Rare Diseases:6034;SNOMED CT:50548001 2013-11-01 1 1 16 173510 C G 173510 173510 + Haplotype 375745 RCV000417222 SCV000503054 362631 HBA2 NM_000517.4:c.339C>G NP_000508.1:p.His113Gln NM_000517.4:c.339C>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 29, 2016 GeneReviews GeneReviews alpha Thalassemia 20301608;25052315;8735302 germline GeneReviews:NBK1435;Genetic Alliance:Alpha-Thalassemia/333;MedGen:C0002312;OMIM:604131;Orphanet:846;SNOMED CT:68913001 2016-12-29 0 0 16 173510 CCTCCCCGCCGAG C 173511 173522 + Haplotype 375745 RCV000417222 SCV000503054 362632 HBA2 NM_000517.4:c.340_351delCTCCCCGCCGAG NP_000508.1:p.Leu114_Glu117del - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 29, 2016 GeneReviews GeneReviews alpha Thalassemia 20301608;25052315;8735302 germline GeneReviews:NBK1435;Genetic Alliance:Alpha-Thalassemia/333;MedGen:C0002312;OMIM:604131;Orphanet:846;SNOMED CT:68913001 2016-12-29 0 0 -16 177068 A G 177068 177068 + Haplotype 15762 RCV000017073 SCV000037345 30800 HBA1 NM_000558.4:c.235A>G NP_000549.1:p.Asn79Asp NM_000558.4:c.235A>G:missense variant other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN J (SINGAPORE);HEMOGLOBIN J (SINGAPORE) 5085670 germline OMIM:141800.0075 2016-07-20 0 0 +16 177068 A G 177068 177068 + Haplotype 15762 RCV000017073 SCV000037345 30800 HBA1 NM_000558.4:c.235A>G NP_000549.1:p.Asn79Asp NM_000558.4:c.235A>G:missense variant other other 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN J (SINGAPORE);HEMOGLOBIN J (SINGAPORE) 5085670 germline OMIM:141800.0075 2016-07-20 0 0 16 177072 C G 177072 177072 + Haplotype 15762 RCV000017073 SCV000037345 38474 HBA1 NM_000558.4:c.239C>G NP_000549.1:p.Ala80Gly NM_000558.4:c.239C>G:missense variant - other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 20, 2016 OMIM OMIM HEMOGLOBIN J (SINGAPORE);HEMOGLOBIN J (SINGAPORE) 5085670 germline OMIM:141800.0075 2016-07-20 0 0 16 1204325 G A 1204325 1204325 + Haplotype 2704 RCV000002823 SCV000022981 17743 CACNA1H NM_021098.2:c.2318G>A NP_066921.2:p.Gly773Asp NM_021098.2:c.2318G>A:missense variant - risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 11, 2005 OMIM OMIM Epilepsy, childhood absence 6;EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 12891677;15888660 germline Genetic Alliance:Epilepsy%2C+childhood+absence+6/8325;MedGen:C2749872;OMIM:611942;Orphanet:64280 2005-05-11 0 0 16 1204369 C T 1204369 1204369 + Haplotype 2704 RCV000002823 SCV000022981 38427 CACNA1H NM_021098.2:c.2362C>T NP_066921.2:p.Arg788Cys NM_021098.2:c.2362C>T:missense variant Benign risk factor 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jul 03, 2013 OMIM OMIM Epilepsy, childhood absence 6;EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 12891677;15888660 germline Genetic Alliance:Epilepsy%2C+childhood+absence+6/8325;MedGen:C2749872;OMIM:611942;Orphanet:64280 2005-05-11 1 0 @@ -335,31 +374,33 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 16 2084582 AGTGGCCTCCGGC A 2084583 2084594 + Haplotype 65324 RCV000055548 SCV000083772 76257 TSC2 NM_000548.4:c.4361_4372delGTGGCCTCCGGC NP_000539.2:p.Ser1454_Pro1458delinsThr NM_000548.4:c.4361_4372delGTGGCCTCCGGC:inframe_variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Tuberous sclerosis database (TSC2) Tuberous sclerosis database (TSC2) Tuberous sclerosis syndrome;TSC 11468687;20301399;23519317;23788249;27854360 germline GeneReviews:NBK1220;MedGen:C0041341;OMIM:191100;OMIM:PS191100;SNOMED CT:7199000 0000-00-00 0 0 16 2085278 TACGACACCC T 2085281 2085289 Haplotype 65183 RCV000055400 SCV000083621 76115 NM_000548.4:c.4621_4629delGACACCCAC NP_000539.2:p.Asp1541_His1543del NM_000548.4:c.4621_4629delGACACCCAC:inframe_variant - not provided 0 0 0 0 0 no assertion for the individual variant no assertion provided - Tuberous sclerosis database (TSC2) Tuberous sclerosis database (TSC2) Tuberous sclerosis syndrome;TSC 20301399;23519317;23788249;27854360 germline GeneReviews:NBK1220;MedGen:C0041341;OMIM:191100;OMIM:PS191100;SNOMED CT:7199000 0000-00-00 0 0 16 3243405 C T 3243405 3243405 - Haplotype 2555 RCV000002664 SCV000022822 17578 MEFV NM_000243.2:c.2082G>A NP_000234.1:p.Met694Ile NM_000243.2:c.2082G>A:missense variant;NM_001198536.1:c.*286G>A:3 prime UTR variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 06, 2017 OMIM OMIM Familial mediterranean fever, autosomal dominant;FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT 10024914;10090880;10364520;10612841;10787449;10980540;11484206;11938447;12401847;12929299;12955725;15942916;16255051;17331080;18097735;19967574;20041150;20301405;20534143;9668175 germline GeneReviews:NBK1227;Genetic Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401;MedGen:C1851347;OMIM:134610;Orphanet:342 2000-04-01 2 0 -16 3254626 C G 3254626 3254626 - Haplotype 2555 RCV000002664 SCV000022822 17581 MEFV NM_000243.2:c.442G>C NP_000234.1:p.Glu148Gln NM_000243.2:c.442G>C:missense variant;NM_001198536.1:c.277+1685G>C:intron variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Apr 30, 2017 OMIM OMIM Familial mediterranean fever, autosomal dominant;FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT 10024914;10090880;10364520;10612841;10787449;10980540;11484206;11938447;12401847;12929299;12955725;15942916;16255051;17331080;18097735;19967574;20041150;20301405;20534143;9668175 germline GeneReviews:NBK1227;Genetic Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401;MedGen:C1851347;OMIM:134610;Orphanet:342 2000-04-01 1 1 +16 3254626 C G 3254626 3254626 - Haplotype 2555 RCV000002664 SCV000022822 17581 MEFV NM_000243.2:c.442G>C NP_000234.1:p.Glu148Gln NM_000243.2:c.442G>C:missense variant;NM_001198536.1:c.277+1685G>C:intron variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 29, 2017 OMIM OMIM Familial mediterranean fever, autosomal dominant;FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT 10024914;10090880;10364520;10612841;10787449;10980540;11484206;11938447;12401847;12929299;12955725;15942916;16255051;17331080;18097735;19967574;20041150;20301405;20534143;9668175 germline GeneReviews:NBK1227;Genetic Alliance:Familial+mediterranean+fever%2C+autosomal+dominant/8401;MedGen:C1851347;OMIM:134610;Orphanet:342 2000-04-01 0 1 16 14593355 A AT 14593356 14593356 - Phase unknown 180663 RCV000162315 SCV000206799 178829 PARN NM_002582.3:c.863dupA NP_002573.1:p.Asn288Lysfs NM_002582.3:c.863dupA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided May 13, 2015 Bone Marrow Failure laboratory,Queen Mary University London Bone Marrow Failure laboratory,Queen Mary University London Dyskeratosis congenita;Dyskeratosis congenita 20301779 germline GeneReviews:NBK22301;Genetic Alliance:Dyskeratosis+congenita/9566;MedGen:C0265965;OMIM:PS127550;SNOMED CT:74911008 2015-02-04 0 0 -16 14608273 ATACT A 14608274 14608277 - Phase unknown 180663 RCV000162315 SCV000206799 178830 PARN NM_002582.3:c.659+4_659+7delAGTA NM_002582.3:c.659+4_659+7delAGTA:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 12, 2015 Bone Marrow Failure laboratory,Queen Mary University London Bone Marrow Failure laboratory,Queen Mary University London Dyskeratosis congenita;Dyskeratosis congenita 20301779 germline GeneReviews:NBK22301;Genetic Alliance:Dyskeratosis+congenita/9566;MedGen:C0265965;OMIM:PS127550;SNOMED CT:74911008 2015-02-04 0 0 +16 14608273 ATACT A 14608274 14608277 - Phase unknown 180663 RCV000162315 SCV000206799 178830 PARN NM_002582.3:c.659+4_659+7delAGTA NM_002582.3:c.659+4_659+7delAGTA:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided May 12, 2015 Bone Marrow Failure laboratory,Queen Mary University London Bone Marrow Failure laboratory,Queen Mary University London Dyskeratosis congenita;Dyskeratosis congenita 20301779 germline GeneReviews:NBK22301;Genetic Alliance:Dyskeratosis+congenita/9566;MedGen:C0265965;OMIM:PS127550;SNOMED CT:74911008 2015-02-04 0 0 16 15718337 C T 15718337 15718337 - Haplotype 14131 RCV000015192 SCV000035449 29170 MYH11 NM_001040113.1:c.5294G>A NP_001035202.1:p.Arg1765Gln NM_001040113.1:c.5294G>A:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 03, 2016 OMIM OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 14722581;16444274;20301299;23788249;24882528;25173340;25356965;27854360 germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 2006-03-01 0 1 16 15721421 C A 15721421 15721421 - Haplotype 14131 RCV000015192 SCV000035449 75290 MYH11 NM_001040113.1:c.4599+1G>T NM_001040113.1:c.4599+1G>T:splice donor variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 01, 2006 OMIM OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 14722581;16444274;20301299;23788249;24882528;25173340;25356965;27854360 germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 2006-03-01 0 0 16 15726882 C A 15726882 15726882 - Haplotype 440783 RCV000015194 SCV000035451 29173 MYH11 NM_001040114.1:c.3845G>T NP_001035203.1:p.Arg1282Leu NM_001040113.1:c.3845G>T:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Oct 29, 2013 OMIM OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 17666408;20301299;23788249;24882528;25173340;25356965;27854360 germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 2007-10-15 1 0 16 15726915 A G 15726915 15726915 - Haplotype 440783 RCV000015194 SCV000035451 94510 MYH11 NM_001040113.1:c.3812T>C NP_001035202.1:p.Leu1271Pro NM_001040113.1:c.3812T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 28, 2015 OMIM OMIM Aortic aneurysm, familial thoracic 4;AORTIC ANEURYSM, FAMILIAL THORACIC 4 17666408;20301299;23788249;24882528;25173340;25356965;27854360 germline Genetic Alliance:Aortic+Aneurysm%2C+Familial+Thoracic+4/532;Genetic Testing Registry (GTR):GTR000330980;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:C1851504;OMIM:132900;Office of Rare Diseases:9876 2007-10-15 0 0 -16 30086309 C T 30086309 30086309 - Haplotype 188053 RCV000167863 SCV000218510 255673 TBX6 NM_004608.3:c.1227G>A NP_004599.2:p.Pro409= NM_004608.3:c.1227G>A:synonymous variant Benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 28, 2016 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 25564734 germline Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 2 0 -16 30091481 T C 30091481 30091481 - Haplotype 188053 RCV000167863 SCV000218510 418555 TBX6 NM_004608.3:c.-48-240A>G NM_004608.3:c.-48-240A>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 22, 2015 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 25564734 germline Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 0 0 -16 30091839 C A 30091839 30091839 - Haplotype 188053 RCV000167863 SCV000218510 185945 TBX6 NM_004608.3:c.-49+34G>T NM_004608.3:c.-49+34G>T:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 22, 2015 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 25564734 germline Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 0 0 -16 47696408 T C 47696408 47696408 + Haplotype 13621 RCV000014591 SCV000034845 28660 PHKB NM_000293.2:c.2923T>C NP_000284.1:p.Tyr975His NM_000293.2:c.2923T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 1997 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C1849812;OMIM:261750;Orphanet:79240 1997-07-01 0 0 -16 47696411 G T 47696411 47696411 + Haplotype 13621 RCV000014591 SCV000034845 38463 PHKB NM_000293.2:c.2926G>T NP_000284.1:p.Glu976Ter NM_000293.2:c.2926G>T:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 1997 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C1849812;OMIM:261750;Orphanet:79240 1997-07-01 0 0 +16 30086309 C T 30086309 30086309 - Haplotype 188053 RCV000167863 SCV000218510 255673 TBX6 NM_004608.3:c.1227G>A NP_004599.2:p.Pro409= NM_004608.3:c.1227G>A:synonymous variant Benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 28, 2016 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 20301771;25564734 germline GeneReviews:NBK8828;Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 2 0 +16 30091481 T C 30091481 30091481 - Haplotype 188053 RCV000167863 SCV000218510 418555 TBX6 NM_004608.3:c.-48-240A>G NM_004608.3:c.-48-240A>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 22, 2015 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 20301771;25564734 germline GeneReviews:NBK8828;Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 0 0 +16 30091839 C A 30091839 30091839 - Haplotype 188053 RCV000167863 SCV000218510 185945 TBX6 NM_004608.3:c.-49+34G>T NM_004608.3:c.-49+34G>T:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 22, 2015 OMIM OMIM Spondylocostal dysostosis 5;SPONDYLOCOSTAL DYSOSTOSIS 5 20301771;25564734 germline GeneReviews:NBK8828;Genetics Home Reference:spondylocostal-dysostosis;MedGen:C1852521;OMIM:122600 2015-01-22 0 0 +16 47696408 T C 47696408 47696408 + Haplotype 13621 RCV000014591 SCV000034845 28660 PHKB NM_000293.2:c.2923T>C NP_000284.1:p.Tyr975His NM_000293.2:c.2923T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 1997 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C0543514;OMIM:261750;Orphanet:79240 1997-07-01 0 0 +16 47696411 G T 47696411 47696411 + Haplotype 13621 RCV000014591 SCV000034845 38463 PHKB NM_000293.2:c.2926G>T NP_000284.1:p.Glu976Ter NM_000293.2:c.2926G>T:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 1997 OMIM OMIM Glycogen storage disease IXb;GLYCOGEN STORAGE DISEASE IXb 21634085;9215682 germline GeneReviews:NBK55061;Genetic Alliance:Glycogen+storage+disease+IXb/8483;MedGen:C0543514;OMIM:261750;Orphanet:79240 1997-07-01 0 0 16 56868355 C T 56868355 56868355 + Haplotype 8596 RCV000009127 SCV000029344 23635 SLC12A3 NM_000339.2:c.488C>T NP_000330.2:p.Thr163Met NM_000339.2:c.488C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 26, 2006 OMIM OMIM Familial hypokalemia-hypomagnesemia;GITELMAN SYNDROME 17000984;21343949 germline Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 2006-09-26 0 0 16 56894594 G A 56894594 56894594 + Haplotype 8596 RCV000009127 SCV000029344 38443 SLC12A3 NM_000339.2:c.2612G>A NP_000330.2:p.Arg871His NM_000339.2:c.2612G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 26, 2006 OMIM OMIM Familial hypokalemia-hypomagnesemia;GITELMAN SYNDROME 17000984;21343949 germline Genetic Alliance:Familial+hypokalemia-hypomagnesemia/8399;MedGen:C0268450;OMIM:263800;Orphanet:358;SNOMED CT:3188003 2006-09-26 0 0 16 67942567 G A 67942567 67942567 - Haplotype 3667 RCV000003852 SCV000024017 38429 LCAT NM_000229.1:c.544C>T NP_000220.1:p.Arg182Cys NM_000229.1:c.544C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 01, 1993 OMIM OMIM Norum disease;LCAT DEFICIENCY 8432868 germline Genetic Alliance:Norum+disease/5271;MedGen:C0023195;OMIM:245900;Office of Rare Diseases:4011;Orphanet:650;Orphanet:79293 1993-02-01 0 0 16 67942939 C T 67942939 67942939 - Haplotype 3667 RCV000003852 SCV000024017 18706 LCAT NM_000229.1:c.349G>A NP_000220.1:p.Ala117Thr NM_000229.1:c.349G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 01, 1993 OMIM OMIM Norum disease;LCAT DEFICIENCY 8432868 germline Genetic Alliance:Norum+disease/5271;MedGen:C0023195;OMIM:245900;Office of Rare Diseases:4011;Orphanet:650;Orphanet:79293 1993-02-01 0 0 16 88720174 G A 88720174 88720174 - Haplotype 55809 RCV000049235 SCV000077488 70465 PIEZO1 NM_001142864.3:c.6059C>T NP_001136336.2:p.Ala2020Val NM_001142864.3:c.6059C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 09, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS 23479567;9718354 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 0 0 16 88727144 G A 88727144 88727144 - Haplotype 55809 RCV000049235 SCV000077488 70466 PIEZO1 NM_001142864.3:c.3350C>T NP_001136336.2:p.Ser1117Leu NM_001142864.3:c.3350C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 09, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS 23479567;9718354 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 0 0 -16 88733652 C T 88733652 88733652 - Haplotype 55813 RCV000049238 SCV000077491 70476 PIEZO1 NM_001142864.3:c.2423G>A NP_001136336.2:p.Arg808Gln NM_001142864.3:c.2423G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 02, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-07-02 0 0 -16 88733731 C T 88733731 88733731 - Haplotype 55813 RCV000049238 SCV000077491 70475 PIEZO1 NM_001142864.3:c.2344G>A NP_001136336.2:p.Gly782Ser NM_001142864.3:c.2344G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 02, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-07-02 0 0 -16 88734844 G C 88734844 88734844 - Haplotype 55813 RCV000049238 SCV000077491 70469 PIEZO1 NM_001142864.3:c.1848+31C>G NM_001142864.3:c.1848+31C>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 02, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-07-02 0 0 -17 8014699 G C 8014699 8014699 + Haplotype 9354;9356 RCV000009948;RCV000009950 SCV000030169;SCV000030171 24393 GUCY2D NM_000180.3:c.2511G>C NP_000171.1:p.Glu837Asp NM_000180.3:c.2511G>C:missense variant not provided pathogenic 2 0 0 0 0 no assertion provided no assertion criteria provided Jan 01, 2000 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177;9683616 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01;1998-08-01 0 0 -17 8014700 C A 8014700 8014700 + Haplotype 9354 RCV000009948 SCV000030169 38445 GUCY2D NM_000180.3:c.2512C>A NP_000171.1:p.Arg838Ser NM_000180.3:c.2512C>A:missense variant not provided pathogenic 1 0 0 0 0 no assertion provided no assertion criteria provided Jan 01, 2000 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01 0 0 -17 8014700 C T 8014700 8014700 + Haplotype 9356 RCV000009950 SCV000030171 24394 GUCY2D NM_000180.3:c.2512C>T NP_000171.1:p.Arg838Cys NM_000180.3:c.2512C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 01, 2003 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 9683616 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 1998-08-01 0 0 -17 8014704 C T 8014704 8014704 + Haplotype 9356 RCV000009950 SCV000030171 38391 GUCY2D NM_000180.3:c.2516C>T NP_000171.1:p.Thr839Met NM_000180.3:c.2516C>T:missense variant not provided pathogenic 1 0 0 0 0 no assertion provided no assertion criteria provided Aug 01, 1998 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 9683616 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 1998-08-01 0 0 +16 88733652 C T 88733652 88733652 - Haplotype 55813 RCV000049238 SCV000077491 70476 PIEZO1 NM_001142864.3:c.2423G>A NP_001136336.2:p.Arg808Gln NM_001142864.3:c.2423G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 09, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 0 0 +16 88733731 C T 88733731 88733731 - Haplotype 55813 RCV000049238 SCV000077491 70475 PIEZO1 NM_001142864.3:c.2344G>A NP_001136336.2:p.Gly782Ser NM_001142864.3:c.2344G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 09, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 0 0 +16 88734844 G C 88734844 88734844 - Haplotype 55813 RCV000049238 SCV000077491 70469 PIEZO1 NM_001142864.3:c.1848+31C>G NM_001142864.3:c.1848+31C>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 09, 2013 OMIM OMIM Xerocytosis;DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH PSEUDOHYPERKALEMIA AND PERINATAL EDEMA 11001917;23479567;9827909 germline Gene:10774;Genetic Alliance:Dehydrated+Hereditary+Stomatocytosis+Pseudohyperkalemia+and+Peri;Genetic Alliance:Stomatocytosis+II/6894;MedGen:C0272051;OMIM:177720;OMIM:194380;OMIM:611184.0003;OMIM:611184.0005;OMIM:611184.0008;Orphanet:3202;SNOMED CT:87994004 2013-05-09 0 0 +17 7220519 C T 7220519 7220519 + Haplotype 441528 RCV000001698 SCV000021854 16670 ACADVL NM_000018.3:c.194C>T NP_000009.1:p.Pro65Leu NM_000018.3:c.194C>T:missense variant;NM_001033859.2:c.139-85C>T:intron variant;NM_001270448.1:c.-35C>T:5 prime UTR variant Benign/Likely benign pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Aug 04, 2017 OMIM OMIM Very long chain acyl-CoA dehydrogenase deficiency;VLCAD DEFICIENCY 10790204;20301763 germline GeneReviews:NBK6816;Genetic Alliance:VLCAD+deficiency/7410;MedGen:C3887523;OMIM:201475;Office of Rare Diseases:5508;Orphanet:26793;SNOMED CT:237996001;SNOMED CT:237997005 2000-01-01 2 0 +17 7222068 A C 7222068 7222068 + Haplotype 441528 RCV000001698 SCV000021854 38417 ACADVL NM_000018.3:c.739A>C NP_000009.1:p.Lys247Gln NM_000018.3:c.739A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 2000 OMIM OMIM Very long chain acyl-CoA dehydrogenase deficiency;VLCAD DEFICIENCY 10790204;20301763 germline GeneReviews:NBK6816;Genetic Alliance:VLCAD+deficiency/7410;MedGen:C3887523;OMIM:201475;Office of Rare Diseases:5508;Orphanet:26793;SNOMED CT:237996001;SNOMED CT:237997005 2000-01-01 0 0 +17 8014699 G C 8014699 8014699 + Haplotype 453243;453244 RCV000009948;RCV000009950 SCV000030169;SCV000030171 24393 GUCY2D NM_000180.3:c.2511G>C NP_000171.1:p.Glu837Asp NM_000180.3:c.2511G>C:missense variant not provided pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 15, 2017 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177;10951519 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01;2017-12-15 0 0 +17 8014700 C A 8014700 8014700 + Haplotype 453243 RCV000009948 SCV000030169 38445 GUCY2D NM_000180.3:c.2512C>A NP_000171.1:p.Arg838Ser NM_000180.3:c.2512C>A:missense variant not provided pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 01, 2000 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10647719;11565546;9097965;9618177 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2000-01-01 0 0 +17 8014700 C T 8014700 8014700 + Haplotype 453244 RCV000009950 SCV000030171 24394 GUCY2D NM_000180.3:c.2512C>T NP_000171.1:p.Arg838Cys NM_000180.3:c.2512C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 15, 2017 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10951519 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2017-12-15 0 0 +17 8014704 C T 8014704 8014704 + Haplotype 453244 RCV000009950 SCV000030171 38391 GUCY2D NM_000180.3:c.2516C>T NP_000171.1:p.Thr839Met NM_000180.3:c.2516C>T:missense variant not provided pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 15, 2017 OMIM OMIM Cone-rod dystrophy 6;CONE-ROD DYSTROPHY 6 10951519 germline Genetic Alliance:Cone-Rod+Dystrophy+6/1771;Genetics Home Reference:cone-rod-dystrophy;MedGen:C1866293;OMIM:601777;Office of Rare Diseases:10117;Office of Rare Diseases:10656;Orphanet:1872 2017-12-15 0 0 17 17215294 G TC 17215294 17215294 - Haplotype 3377 RCV000003544 SCV000023702 243924 FLCN NM_144997.5:c.1323delCinsGA NP_659434.2:p.His442Thrfs NM_144997.5:c.1323delCinsGA:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 01, 2009 OMIM OMIM Multiple fibrofolliculomas;BIRT-HOGG-DUBE SYNDROME 19320655;19562744;20301695;24319509;25394175 germline GeneReviews:NBK1522;Genetic Alliance:Multiple+fibrofolliculomas/8920;Genetics Home Reference:birt-hogg-dube-syndrome;MedGen:C0346010;OMIM:135150;Office of Rare Diseases:2322;Orphanet:122;SNOMED CT:110985001 2009-09-01 0 0 17 17215312 AAACTCTGTAAC A 17215313 17215323 - Haplotype 3377 RCV000003544 SCV000023702 18416 FLCN NM_144997.5:c.1301-7_1304delGTTACAGAGTT NM_144997.5:c.1301-7_1304delGTTACAGAGTT:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 01, 2009 OMIM OMIM Multiple fibrofolliculomas;BIRT-HOGG-DUBE SYNDROME 19320655;19562744;20301695;24319509;25394175 germline GeneReviews:NBK1522;Genetic Alliance:Multiple+fibrofolliculomas/8920;Genetics Home Reference:birt-hogg-dube-syndrome;MedGen:C0346010;OMIM:135150;Office of Rare Diseases:2322;Orphanet:122;SNOMED CT:110985001 2009-09-01 0 0 17 19657797 G A 19657797 19657797 + Haplotype 438264 RCV000504796 SCV000598618 260161 ALDH3A2 NM_000382.2:c.733G>A NP_000373.1:p.Asp245Asn NM_000382.2:c.733G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jun 01, 2017 Rizzo Lab,University of Nebraska Medical Center Rizzo Lab,University of Nebraska Medical Center Sjögren-Larsson syndrome;Ichthyosis;Spasticity;Intellectual disability;Sjogren-Larsson syndrome 10577908 germline Genetic Alliance:Sjogren-Larsson+syndrome/6627;Genetics Home Reference:sjogren-larsson-syndrome;MedGen:C0037231;OMIM:270200;Office of Rare Diseases:7654;Orphanet:816;SNOMED CT:111303009 2017-06-01 0 0 @@ -367,18 +408,22 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 17 19661230 CT C 19661234 19661234 + Haplotype 438264 RCV000504796 SCV000598618 431887 ALDH3A2 NM_000382.2:c.906delT NP_000373.1:p.Phe302Leufs NM_000382.2:c.906delT:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jun 01, 2017 Rizzo Lab,University of Nebraska Medical Center Rizzo Lab,University of Nebraska Medical Center Sjögren-Larsson syndrome;Ichthyosis;Spasticity;Intellectual disability;Sjogren-Larsson syndrome 10577908 germline Genetic Alliance:Sjogren-Larsson+syndrome/6627;Genetics Home Reference:sjogren-larsson-syndrome;MedGen:C0037231;OMIM:270200;Office of Rare Diseases:7654;Orphanet:816;SNOMED CT:111303009 2017-06-01 0 0 17 19661237 T G 19661237 19661237 + Haplotype 438264 RCV000504796 SCV000598618 431888 ALDH3A2 NM_000382.2:c.909T>G NP_000373.1:p.Gly303= NM_000382.2:c.909T>G:synonymous variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Jun 01, 2017 Rizzo Lab,University of Nebraska Medical Center Rizzo Lab,University of Nebraska Medical Center Sjögren-Larsson syndrome;Ichthyosis;Spasticity;Intellectual disability;Sjogren-Larsson syndrome 10577908 germline Genetic Alliance:Sjogren-Larsson+syndrome/6627;Genetics Home Reference:sjogren-larsson-syndrome;MedGen:C0037231;OMIM:270200;Office of Rare Diseases:7654;Orphanet:816;SNOMED CT:111303009 2017-06-01 0 0 17 31250916 TA T 31250917 31250917 + Haplotype 217112 RCV000200907 SCV000255592 213715 NF1 NM_001042492.2:c.4110+1798del NM_000267.3:c.4110+1798del:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided - Medical Genomics Laboratory,Department of Genetics UAB Medical Genomics Laboratory,Department of Genetics UAB Neurofibromatosis, type 1;Neurofibromatosis, type 1 15604628;17636453;20065170;20301288;20301471;24893135;26189818 loss of function unknown GeneReviews:NBK1109;Genetic Alliance:Neurofibromatosis+type+1/5174;Genetic Testing Registry (GTR):GTR000260605;Genetic Testing Registry (GTR):GTR000335545;Genetic Testing Registry (GTR):GTR000500115;Genetic Testing Registry (GTR):GTR000500672;Genetic Testing Registry (GTR):GTR000500881;Genetic Testing Registry (GTR):GTR000500970;Genetic Testing Registry (GTR):GTR000500971;Genetic Testing Registry (GTR):GTR000500972;Genetic Testing Registry (GTR):GTR000501087;Genetic Testing Registry (GTR):GTR000501088;Genetic Testing Registry (GTR):GTR000509686;Genetic Testing Registry (GTR):GTR000510677;Genetic Testing Registry (GTR):GTR000510679;Genetic Testing Registry (GTR):GTR000511186;Genetic Testing Registry (GTR):GTR000511188;Genetic Testing Registry (GTR):GTR000514608;Genetic Testing Registry (GTR):GTR000514913;Genetic Testing Registry (GTR):GTR000514981;Genetic Testing Registry (GTR):GTR000515566;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520393;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000521399;Genetic Testing Registry (GTR):GTR000521505;Genetic Testing Registry (GTR):GTR000521546;Genetic Testing Registry (GTR):GTR000522322;Genetic Testing Registry (GTR):GTR000528459;Genetic Testing Registry (GTR):GTR000528529;Genetic Testing Registry (GTR):GTR000528533;Genetic Testing Registry (GTR):GTR000528913;Genetic Testing Registry (GTR):GTR000528930;Genetic Testing Registry (GTR):GTR000529017;Genetic Testing Registry (GTR):GTR000529068;Genetic Testing Registry (GTR):GTR000551630;Genetic Testing Registry (GTR):GTR000552183;Genetic Testing Registry (GTR):GTR000552305;Genetic Testing Registry (GTR):GTR000556576;MedGen:C0027831;OMIM:162200;OMIM:613113.0001;OMIM:613113.0002;OMIM:613113.0003;OMIM:613113.0004;OMIM:613113.0005;OMIM:613113.0006;OMIM:613113.0007;OMIM:613113.0008;OMIM:613113.0009;OMIM:613113.0012;OMIM:613113.0013;OMIM:613113.0014;OMIM:613113.0015;OMIM:613113.0016;OMIM:613113.0021;OMIM:613113.0022;OMIM:613113.0023;OMIM:613113.0024;OMIM:613113.0025;OMIM:613113.0026;OMIM:613113.0027;OMIM:613113.0029;OMIM:613113.0030;OMIM:613113.0031;OMIM:613113.0032;OMIM:613113.0037;OMIM:613113.0038;OMIM:613113.0040;OMIM:613113.0041;OMIM:613113.0042;OMIM:613113.0043;OMIM:613113.0044;OMIM:613113.0046;Office of Rare Diseases:7866;Orphanet:636;Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília:R34;SNOMED CT:92824003 0000-00-00 0 0 -17 43095875 T C 43095875 43095875 - Haplotype 236265 RCV000225499 SCV000282252 46245 BRCA1 NM_007294.3:c.641A>G NP_009225.1:p.Asp214Gly NM_007294.3:c.641A>G:missense variant;NR_027676.1:n.777A>G:non-coding transcript variant Benign benign 0 0 0 0 1 no assertion for the individual variant reviewed by expert panel Jun 29, 2017 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;Genetics Home Reference:ovarian-cancer;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 0 0 -17 43095924 T G 43095924 43095924 - Haplotype 236265 RCV000225499 SCV000282252 46242 BRCA1 NM_007294.3:c.594-2A>C NM_007294.3:c.594-2A>C:splice acceptor variant Benign benign 0 0 0 0 1 reviewed by expert panel reviewed by expert panel Jun 29, 2017 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;Genetics Home Reference:ovarian-cancer;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 3 0 +17 43095875 T C 43095875 43095875 - Haplotype 236265 RCV000225499 SCV000282252 46245 BRCA1 NM_007294.3:c.641A>G NP_009225.1:p.Asp214Gly NM_007294.3:c.641A>G:missense variant;NR_027676.1:n.777A>G:non-coding transcript variant Benign benign 0 0 0 0 1 reviewed by expert panel reviewed by expert panel Jul 19, 2017 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 3 0 +17 43095924 T G 43095924 43095924 - Haplotype 236265 RCV000225499 SCV000282252 46242 BRCA1 NM_007294.3:c.594-2A>C NM_007294.3:c.594-2A>C:splice acceptor variant Benign benign 0 0 0 0 1 no assertion for the individual variant reviewed by expert panel Jul 19, 2017 Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Breast-ovarian cancer, familial 1 1;10;15604628;17392385;17508274;17924331;19305347;20;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27008870;27854360;3;548;70 loss of function germline GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2016-04-15 0 0 +17 43124094 C T 43124094 43124094 - Haplotype 487432 RCV000576499 SCV000677891 424868 BRCA1 NM_007294.3:c.3G>A NP_009225.1:p.Met1Ile NM_007294.3:c.3G>A:missense variant Uncertain significance likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Apr 05, 2017 Counsyl Counsyl Breast-ovarian cancer, familial 1 15604628;16267036;16941470;17392385;17508274;19305347;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27854360 loss of function unknown GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2017-04-05 0 0 +17 43124097 T C 43124097 43124097 - Haplotype 487432 RCV000576499 SCV000677891 480485 BRCA1 NM_007294.3:c.-1A>G - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Apr 05, 2017 Counsyl Counsyl Breast-ovarian cancer, familial 1 15604628;16267036;16941470;17392385;17508274;19305347;20065170;20301425;23188549;23788249;23918944;24366376;24366402;24432435;24493721;25356965;25394175;27854360 loss of function unknown GeneReviews:NBK1247;Genetic Alliance:Breast-ovarian+cancer%2C+familial+1/7865;Genetic Testing Registry (GTR):GTR000017876;Genetic Testing Registry (GTR):GTR000021517;Genetic Testing Registry (GTR):GTR000320777;Genetic Testing Registry (GTR):GTR000325409;Genetic Testing Registry (GTR):GTR000330054;Genetic Testing Registry (GTR):GTR000501196;Genetic Testing Registry (GTR):GTR000501743;Genetic Testing Registry (GTR):GTR000501746;Genetic Testing Registry (GTR):GTR000501817;Genetic Testing Registry (GTR):GTR000505644;Genetic Testing Registry (GTR):GTR000507653;Genetic Testing Registry (GTR):GTR000507764;Genetic Testing Registry (GTR):GTR000507864;Genetic Testing Registry (GTR):GTR000507913;Genetic Testing Registry (GTR):GTR000507930;Genetic Testing Registry (GTR):GTR000509001;Genetic Testing Registry (GTR):GTR000509002;Genetic Testing Registry (GTR):GTR000509348;Genetic Testing Registry (GTR):GTR000509349;Genetic Testing Registry (GTR):GTR000509363;Genetic Testing Registry (GTR):GTR000509450;Genetic Testing Registry (GTR):GTR000509451;Genetic Testing Registry (GTR):GTR000509692;Genetic Testing Registry (GTR):GTR000509980;Genetic Testing Registry (GTR):GTR000509982;Genetic Testing Registry (GTR):GTR000509983;Genetic Testing Registry (GTR):GTR000512320;Genetic Testing Registry (GTR):GTR000512644;Genetic Testing Registry (GTR):GTR000512645;Genetic Testing Registry (GTR):GTR000512816;Genetic Testing Registry (GTR):GTR000514601;Genetic Testing Registry (GTR):GTR000519030;Genetic Testing Registry (GTR):GTR000520069;Genetic Testing Registry (GTR):GTR000520071;Genetic Testing Registry (GTR):GTR000520072;Genetic Testing Registry (GTR):GTR000520394;Genetic Testing Registry (GTR):GTR000520410;Genetic Testing Registry (GTR):GTR000520865;Genetic Testing Registry (GTR):GTR000520866;Genetic Testing Registry (GTR):GTR000520867;Genetic Testing Registry (GTR):GTR000520869;Genetic Testing Registry (GTR):GTR000520870;Genetic Testing Registry (GTR):GTR000520871;Genetic Testing Registry (GTR):GTR000520872;Genetic Testing Registry (GTR):GTR000521908;Genetic Testing Registry (GTR):GTR000522159;Genetic Testing Registry (GTR):GTR000522160;Genetic Testing Registry (GTR):GTR000522161;Genetic Testing Registry (GTR):GTR000522162;Genetic Testing Registry (GTR):GTR000522243;Genetic Testing Registry (GTR):GTR000527942;Genetic Testing Registry (GTR):GTR000528915;Genetic Testing Registry (GTR):GTR000528916;Genetic Testing Registry (GTR):GTR000530120;Genetic Testing Registry (GTR):GTR000530202;Genetic Testing Registry (GTR):GTR000531275;Genetic Testing Registry (GTR):GTR000551440;Genetic Testing Registry (GTR):GTR000552245;Genetic Testing Registry (GTR):GTR000552304;MedGen:C2676676;OMIM:113705.0001;OMIM:113705.0002;OMIM:113705.0003;OMIM:113705.0004;OMIM:113705.0005;OMIM:113705.0006;OMIM:113705.0007;OMIM:113705.0008;OMIM:113705.0009;OMIM:113705.0010;OMIM:113705.0012;OMIM:113705.0013;OMIM:113705.0014;OMIM:113705.0015;OMIM:113705.0016;OMIM:113705.0017;OMIM:113705.0018;OMIM:113705.0019;OMIM:113705.0020;OMIM:113705.0021;OMIM:113705.0023;OMIM:113705.0024;OMIM:113705.0025;OMIM:113705.0026;OMIM:113705.0027;OMIM:113705.0028;OMIM:113705.0029;OMIM:113705.0030;OMIM:113705.0031;OMIM:113705.0032;OMIM:113705.0033;OMIM:113705.0034;OMIM:113705.0035;OMIM:113705.0036;OMIM:113705.0037;OMIM:602667.0001;OMIM:604370;Orphanet:145 2017-04-05 0 0 17 44911369 C T 44911369 44911369 - Haplotype 190352 RCV000192152 SCV000223016 77412 GFAP NM_002055.4:c.994G>A NP_002046.1:p.Glu332Lys NM_002055.4:c.994G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 08, 2015 GeneReviews GeneReviews Alexander's disease;Alexander's disease 18004641;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 0 0 -17 44911375 G C 44911375 44911375 - Haplotype 190352 RCV000192152 SCV000223016 77410 GFAP NM_002055.4:c.988C>G NP_002046.1:p.Arg330Gly NM_002055.4:c.988C>G:missense variant not provided pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 08, 2015 GeneReviews GeneReviews Alexander's disease;Alexander's disease 18004641;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 0 0 -17 44913382 C G 44913382 44913382 - Haplotype 190336 RCV000192110 SCV000222969 77391 GFAP NM_002055.4:c.667G>C NP_002046.1:p.Glu223Gln NM_002055.4:c.667G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 08, 2015 GeneReviews GeneReviews Alexander's disease;Alexander's disease 14707518;15060693;19444543;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 0 0 +17 44911375 G C 44911375 44911375 - Haplotype 190352 RCV000192152 SCV000223016 77410 GFAP NM_002055.4:c.988C>G NP_002046.1:p.Arg330Gly NM_002055.4:c.988C>G:missense variant not provided pathogenic 1 0 0 0 0 no assertion provided no assertion criteria provided Jan 08, 2015 GeneReviews GeneReviews Alexander's disease;Alexander's disease 18004641;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 0 0 +17 44913382 C G 44913382 44913382 - Haplotype 190336 RCV000192110 SCV000222969 77391 GFAP NM_002055.4:c.667G>C NP_002046.1:p.Glu223Gln NM_002055.4:c.667G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 08, 2015 GeneReviews GeneReviews Alexander's disease;Alexander's disease 14707518;15060693;19444543;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 0 0 17 44915251 C T 44915251 44915251 - Haplotype 190336 RCV000192110 SCV000222969 31209 GFAP NM_002055.4:c.236G>A NP_002046.1:p.Arg79His NM_002055.4:c.236G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Nov 08, 2016 GeneReviews GeneReviews Alexander's disease;Alexander's disease 14707518;15060693;19444543;20301351;21533827 germline GeneReviews:NBK1172;Genetic Alliance:Alexander+Disease/302;MedGen:C0270726;OMIM:203450;Orphanet:58;SNOMED CT:81854007 2015-01-08 1 0 17 63941803 C T 63941803 63941803 - Haplotype 21158 RCV000020275 SCV000040630 34011 SCN4A NM_000334.4:c.4479G>A NP_000325.4:p.Met1493Ile NM_000334.4:c.4479G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 28, 2016 GeneReviews GeneReviews Hyperkalemic Periodic Paralysis Type 1 10930446;20298421;20301669 germline GeneReviews:NBK1496;GeneTests:2133;Genetic Alliance:Hyperkalemic+Periodic+Paralysis+Type+1/8591;MedGen:CN074266;OMIM:170500;Orphanet:682 2016-01-28 0 0 17 63941814 A G 63941814 63941814 - Haplotype 21158 RCV000020275 SCV000040630 34010 SCN4A NM_000334.4:c.4468T>C NP_000325.4:p.Phe1490Leu NM_000334.4:c.4468T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 28, 2016 GeneReviews GeneReviews Hyperkalemic Periodic Paralysis Type 1 10930446;20298421;20301669 germline GeneReviews:NBK1496;GeneTests:2133;Genetic Alliance:Hyperkalemic+Periodic+Paralysis+Type+1/8591;MedGen:CN074266;OMIM:170500;Orphanet:682 2016-01-28 0 0 17 75517064 T C 75517064 75517064 + Haplotype 2121 RCV000002203 SCV000022361 38422 TSEN54 NM_207346.2:c.277T>C NP_997229.2:p.Ser93Pro NM_207346.2:c.277T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Sep 08, 2009 OMIM OMIM Pontocerebellar hypoplasia type 4;PONTOCEREBELLAR HYPOPLASIA, TYPE 4 18711368;20301773 germline GeneReviews:NBK9673;Genetic Alliance:Pontocerebellar+hypoplasia+type+4/5866;MedGen:C1856974;OMIM:225753;Office of Rare Diseases:343;Orphanet:166063 2008-09-01 0 0 -17 75522000 G T 75522000 75522000 + Haplotype 2121 RCV000002203 SCV000022361 17159 TSEN54 NM_207346.2:c.919G>T NP_997229.2:p.Ala307Ser NM_207346.2:c.919G>T:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided May 18, 2017 OMIM OMIM Pontocerebellar hypoplasia type 4;PONTOCEREBELLAR HYPOPLASIA, TYPE 4 18711368;20301773 germline GeneReviews:NBK9673;Genetic Alliance:Pontocerebellar+hypoplasia+type+4/5866;MedGen:C1856974;OMIM:225753;Office of Rare Diseases:343;Orphanet:166063 2008-09-01 2 0 +17 75522000 G T 75522000 75522000 + Haplotype 2121 RCV000002203 SCV000022361 17159 TSEN54 NM_207346.2:c.919G>T NP_997229.2:p.Ala307Ser NM_207346.2:c.919G>T:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Nov 01, 2017 OMIM OMIM Pontocerebellar hypoplasia type 4;PONTOCEREBELLAR HYPOPLASIA, TYPE 4 18711368;20301773 germline GeneReviews:NBK9673;Genetic Alliance:Pontocerebellar+hypoplasia+type+4/5866;MedGen:C1856974;OMIM:225753;Office of Rare Diseases:343;Orphanet:166063 2008-09-01 2 0 +17 81717813 C T 81717813 81717813 + Haplotype 446176 RCV000516170 SCV000611120 439524 SLC25A10 NM_001270888.1:c.684C>T NP_001257817.1:p.Pro228= NM_001270888.1:c.684C>T:synonymous variant;NM_001270953.1:c.574C>T:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter - Computational Biology Unit,University of Bari Computational Biology Unit,University of Bari Mitochondrial complex I deficiency;Epileptic encephalopathy;Decreased activity of mitochondrial complex I;Infantile muscular hypotonia 29211846 not applicable;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;HP:HP:0008947;HP:HP:0011923;HP:HP:0200134;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 0000-00-00 0 0 +17 81719939 G A 81719939 81719939 + Haplotype 446176 RCV000516170 SCV000611120 439525 SLC25A10 NM_001270888.1:c.790-37G>A NM_001270888.1:c.790-37G>A:intron variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter - Computational Biology Unit,University of Bari Computational Biology Unit,University of Bari Mitochondrial complex I deficiency;Epileptic encephalopathy;Decreased activity of mitochondrial complex I;Infantile muscular hypotonia 29211846 not applicable;paternal Genetic Alliance:Mitochondrial+complex+I+deficiency/4823;HP:HP:0008947;HP:HP:0011923;HP:HP:0200134;MedGen:C1838979;OMIM:252010;Office of Rare Diseases:3908;Orphanet:2609 0000-00-00 0 0 18 3215158 CAC GAG 3215158 3215160 - Haplotype 229030 RCV000221703 SCV000272178 230906 MYOM1 NM_003803.3:c.64_66delGTGinsCTC NP_003794.3:p.Val22Leu NM_003803.3:c.64_66delGTGinsCTC:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Jul 08, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-08 0 0 -18 3215159 A C 3215159 3215159 - Haplotype 229030 RCV000221703 SCV000272178 230904 MYOM1 NM_003803.3:c.65T>G NP_003794.3:p.Val22Gly NM_003803.3:c.65T>G:missense variant - uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Jul 08, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-08 0 0 +18 3215159 A C 3215159 3215159 - Haplotype 229030 RCV000221703 SCV000272178 230904 MYOM1 NM_003803.3:c.65T>G NP_003794.3:p.Val22Gly NM_003803.3:c.65T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion for the individual variant criteria provided, single submitter Mar 26, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-08 0 0 18 45865614 C G 45865614 45865614 - Haplotype 267449 RCV000496979 SCV000328418 262702 EPG5 NM_020964.2:c.6766+1G>C NM_020964.2:c.6766+1G>C:splice donor variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 11, 2016 Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Absent corpus callosum cataract immunodeficiency;Vici syndrome 21965116;28615637;3344762 germline Genetic Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81;MedGen:C1855772;OMIM:242840;Office of Rare Diseases:448;Orphanet:1493 2016-08-11 0 0 18 45879089 CA C 45879090 45879090 - Haplotype 267444 RCV000496982 SCV000328413 262703 EPG5 NM_020964.2:c.5792delT NP_066015.2:p.Leu1931Trpfs NM_020964.2:c.5792delT:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 11, 2016 Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Absent corpus callosum cataract immunodeficiency;Vici syndrome 21965116;28615637;3344762 germline Genetic Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81;MedGen:C1855772;OMIM:242840;Office of Rare Diseases:448;Orphanet:1493 2016-08-11 0 0 18 45908057 C T 45908057 45908057 - Haplotype 267445 RCV000496976 SCV000328414 262704 EPG5 NM_020964.2:c.4230G>A NP_066015.2:p.Trp1410Ter NM_020964.2:c.4230G>A:nonsense - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 11, 2016 Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences Absent corpus callosum cataract immunodeficiency;Vici syndrome 21965116;28615637;3344762 germline Genetic Alliance:Absent+Corpus+Callosum+Cataract+Immunodeficiency/81;MedGen:C1855772;OMIM:242840;Office of Rare Diseases:448;Orphanet:1493 2016-08-11 0 0 @@ -409,66 +454,88 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 19 7163092 C A 7163092 7163092 - Haplotype 377381 RCV000496605 SCV000503034 364263 INSR NM_000208.3:c.1969G>T NP_000199.2:p.Val657Phe NM_000208.3:c.1969G>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 02, 2014 Medical Research Institute,Tokyo Medical and Dental University Medical Research Institute,Tokyo Medical and Dental University Leprechaunism syndrome 28765322 germline Genetic Alliance:Leprechaunism+syndrome/8731;Genetics Home Reference:donohue-syndrome;MedGen:C0265344;OMIM:246200;Orphanet:508;SNOMED CT:111307005 2014-06-02 0 0 19 7170555 T C 7170555 7170555 - Haplotype 377384 RCV000496626 SCV000503037 364264 INSR NM_000208.3:c.1465A>G NP_000199.2:p.Asn489Asp NM_000208.3:c.1465A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 02, 2014 Medical Research Institute,Tokyo Medical and Dental University Medical Research Institute,Tokyo Medical and Dental University Insulin-resistant diabetes mellitus AND acanthosis nigricans 28765322 germline Genetic Alliance:Insulin-resistant+diabetes+mellitus+AND+acanthosis+nigricans/8675;Genetics Home Reference:type-a-insulin-resistance-syndrome;MedGen:C0271690;OMIM:610549;Orphanet:2297;SNOMED CT:9859006 2014-06-02 0 0 19 7184524 G A 7184524 7184524 - Haplotype 377383 RCV000496343 SCV000503036 364265 INSR NM_000208.3:c.766C>T NP_000199.2:p.Arg256Cys NM_000208.3:c.766C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 02, 2014 Medical Research Institute,Tokyo Medical and Dental University Medical Research Institute,Tokyo Medical and Dental University Pineal hyperplasia AND diabetes mellitus syndrome 28765322 germline Genetic Alliance:Pineal+hyperplasia+AND+diabetes+mellitus+syndrome/9115;Genetics Home Reference:rabson-mendenhall-syndrome;MedGen:C0271695;OMIM:262190;Orphanet:769;SNOMED CT:33559001 2014-06-02 0 0 -19 10380510 C T 10380510 10380510 - Haplotype 440728 RCV000508928 SCV000606721 434354 TYK2 NM_003331.4:c.-316G>A Uncertain significance risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 +19 10380510 C T 10380510 10380510 - Haplotype 440728 RCV000508928 SCV000606721 434354 TYK2 NM_003331.4:c.-316G>A Uncertain significance risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 19 10380511 C T 10380511 10380511 - Haplotype 440728 RCV000508928 SCV000606721 434355 TYK2 NM_003331.4:c.-317G>A Uncertain significance risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 19 10380572 T C 10380572 10380572 - Haplotype 440728 RCV000508928 SCV000606721 342540 TYK2 NM_003331.4:c.-378A>G NM_003331.4:c.-378A>G:5 prime UTR variant Uncertain significance risk factor 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 14, 2016 Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 1 0 -19 10380676 T G 10380676 10380676 - Haplotype 440728 RCV000508928 SCV000606721 434356 TYK2 NM_003331.4:c.-482A>C Uncertain significance risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 -19 10381501 A T 10381501 10381501 - Haplotype 440728 RCV000508928 SCV000606721 434357 TYK2 NM_003331.4:c.-1307T>A Uncertain significance risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 +19 10380676 T G 10380676 10380676 - Haplotype 440728 RCV000508928 SCV000606721 434356 TYK2 NM_003331.4:c.-482A>C Uncertain significance risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 +19 10381501 A T 10381501 10381501 - Haplotype 440728 RCV000508928 SCV000606721 434357 TYK2 NM_003331.4:c.-1307T>A Uncertain significance risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 19 10381502 C T 10381502 10381502 - Haplotype 440728 RCV000508928 SCV000606721 434358 TYK2 NM_003331.4:c.-1308G>A Uncertain significance risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided - Division of Host Defense,Kyushu University Division of Host Defense,Kyushu University Virus-induced diabetes;Virus-induced diabetes 26288847 inherited 0000-00-00 0 0 19 11105552 T TGTGATG 11105555 11105560 + Haplotype 250923 RCV000238362 SCV000294356 245688 LDLR NM_000527.4:c.649_654dupGATGGT NP_000518.1:p.Gly218_Gly219insAspGly NM_000527.4:c.649_654dupGATGGT:inframe_variant;NM_001195800.1:c.314-1837_314-1832dup:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Mar 25, 2016 LDLR-LOVD, British Heart Foundation LDLR-LOVD, British Heart Foundation Familial hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;27854360;7649546 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2016-03-25 0 0 19 11105561 GGCCCC G 11105563 11105567 + Haplotype 250923 RCV000238362 SCV000294356 245692 LDLR NM_000527.4:c.657_661delCCCCG NP_000518.1:p.Pro220Leufs NM_000527.4:c.657_661delCCCCG:frameshift variant;NM_001195800.1:c.314-1829_314-1825delCCCCG:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Mar 25, 2016 LDLR-LOVD, British Heart Foundation LDLR-LOVD, British Heart Foundation Familial hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;27854360;7649546 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2016-03-25 0 0 -19 11107403 G A 11107403 11107403 + Haplotype 430765 RCV000495914 SCV000583747 181238 LDLR NM_000527.4:c.829G>A NP_000518.1:p.Glu277Lys NM_000527.4:c.829G>A:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Mar 30, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;28145427 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 1 1 +19 11107403 G A 11107403 11107403 + Haplotype 430765 RCV000495914 SCV000583747 181238 LDLR NM_000527.4:c.829G>A NP_000518.1:p.Glu277Lys NM_000527.4:c.829G>A:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Apr 24, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;28145427 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 1 1 19 11107506 A G 11107506 11107506 + Haplotype 430769 RCV000495938 SCV000583762 245864 LDLR NM_000527.4:c.932A>G NP_000518.1:p.Lys311Arg NM_000527.4:c.932A>G:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Mar 30, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 1 1 19 11107513 C G 11107513 11107513 + Haplotype 430769 RCV000495938 SCV000583762 245873 LDLR NM_000527.4:c.939C>G NP_000518.1:p.Cys313Trp NM_000527.4:c.939C>G:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter Mar 30, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 0 0 19 11113359 T C 11113359 11113359 + Haplotype 430765 RCV000495914 SCV000583747 246074 LDLR NM_000527.4:c.1268T>C NP_000518.1:p.Ile423Thr NM_000527.4:c.1268T>C:missense variant Pathogenic/Likely pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 30, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;28145427 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 2 0 -19 11116197 A C 11116197 11116197 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 18776 LDLR NM_000527.4:c.1690A>C NP_000518.1:p.Asn564His NM_000527.4:c.1690A>C:missense variant Conflicting interpretations of pathogenicity other;pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter Mar 30, 2017 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2012-05-04;2017-03-30 0 1 -19 11120225 A C 11120225 11120225 + Haplotype 430800 RCV000495898 SCV000583944 424334 LDLR NM_000527.4:c.1979A>C NP_000518.1:p.Gln660Pro NM_000527.4:c.1979A>C:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Mar 30, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 1 0 +19 11116197 A C 11116197 11116197 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 18776 LDLR NM_000527.4:c.1690A>C NP_000518.1:p.Asn564His NM_000527.4:c.1690A>C:missense variant Conflicting interpretations of pathogenicity pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter Mar 30, 2017 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 1997-01-01;2017-03-30 0 1 +19 11120225 A C 11120225 11120225 + Haplotype 430800 RCV000495898 SCV000583944 424334 LDLR NM_000527.4:c.1979A>C NP_000518.1:p.Gln660Pro NM_000527.4:c.1979A>C:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Mar 30, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 0 0 19 11128055 G A 11128055 11128055 + Haplotype 430800 RCV000495898 SCV000583944 424344 LDLR NM_000527.4:c.2359G>A NP_000518.1:p.Val787Met NM_000527.4:c.2359G>A:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Mar 30, 2017 U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2017-03-30 0 0 -19 11129515 CTCCTCGTCT C 11129520 11129528 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 71434 LDLR NM_000527.4:c.2397_2405delCGTCTTCCT NP_000518.1:p.Val800_Leu802del NM_000527.4:c.2397_2405delCGTCTTCCT:inframe_variant Pathogenic/Likely pathogenic other;pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter Mar 30, 2017 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 2012-05-04;2017-03-30 0 0 -19 18594338 A C 18594338 18594338 - Haplotype 5706 RCV000006060 SCV000026242 34280 CRLF1 NM_004750.4:c.1121T>G NP_004741.1:p.Leu374Arg NM_004750.4:c.1121T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 03, 2011 OMIM OMIM Cold-induced sweating syndrome 1;COLD-INDUCED SWEATING SYNDROME 1 12509788;21370513 germline GeneReviews:NBK52917;Genetic Alliance:Cold-induced+sweating+syndrome+1/8000;Genetic Alliance:Crisponi+Syndrome/2012;MedGen:C1848947;OMIM:272430;Orphanet:157820 2003-02-01 0 0 +19 11129515 CTCCTCGTCT C 11129520 11129528 + Haplotype 3737 RCV000003935 SCV000024100;SCV000583862 71434 LDLR NM_000527.4:c.2397_2405delCGTCTTCCT NP_000518.1:p.Val800_Leu802del NM_000527.4:c.2397_2405delCGTCTTCCT:inframe_variant Pathogenic/Likely pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided;criteria provided, single submitter Mar 30, 2017 OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille Familial hypercholesterolemia;FH AARHUS;Hyperbetalipoproteinemia;Hypercholesterolemia;Familial Hypercholesterolemia 1439789;15177124;21600525;22364837;23725921;23788249;24404629;24418289;24636176;25053660;25356965;25404096;25741868;27854360;8528204;9143924 germline GeneReviews:NBK174884;Genetic Alliance:Familial+Hypercholesterolemia/2746;HP:HP:0003124;HP:HP:0003141;MedGen:C0020445;OMIM:143890;OMIM:144400;OMIM:600946.0028;Orphanet:391665;SNOMED CT:397915002;SNOMED CT:398036000 1997-01-01;2017-03-30 0 0 +19 18594338 A C 18594338 18594338 - Haplotype 5706 RCV000006060 SCV000026242 34280 CRLF1 NM_004750.4:c.1121T>G NP_004741.1:p.Leu374Arg NM_004750.4:c.1121T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Mar 03, 2011 OMIM OMIM Cold-induced sweating syndrome 1;COLD-INDUCED SWEATING SYNDROME 1 12509788;21370513 germline GeneReviews:NBK52917;Genetic Alliance:Cold-induced+sweating+syndrome+1/8000;Genetic Alliance:Crisponi+Syndrome/2012;MedGen:C1848947;OMIM:272430;Orphanet:157820 2003-02-01 0 0 19 18599720 C T 18599720 18599720 - Haplotype 5706 RCV000006060 SCV000026242 20745 CRLF1 NM_004750.4:c.242G>A NP_004741.1:p.Arg81His NM_004750.4:c.242G>A:missense variant Benign pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Mar 03, 2011 OMIM OMIM Cold-induced sweating syndrome 1;COLD-INDUCED SWEATING SYNDROME 1 12509788;21370513 germline GeneReviews:NBK52917;Genetic Alliance:Cold-induced+sweating+syndrome+1/8000;Genetic Alliance:Crisponi+Syndrome/2012;MedGen:C1848947;OMIM:272430;Orphanet:157820 2003-02-01 0 0 19 35842429 T A 35842429 35842429 - Haplotype 6872 RCV000007275 SCV000027471 38439 NPHS1 NM_004646.3:c.2456A>T NP_004637.1:p.Asp819Val NM_004646.3:c.2456A>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 01, 2000 OMIM OMIM Finnish congenital nephrotic syndrome;NEPHROTIC SYNDROME, TYPE 1 10652016 germline Genetic Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861;MedGen:C0403399;OMIM:256300;OMIM:602716.0001;OMIM:602716.0002;OMIM:602716.0003;OMIM:602716.0004;OMIM:602716.0005;OMIM:602716.0006;OMIM:602716.0007;OMIM:602716.0008;OMIM:602716.0009;OMIM:602716.0010;Office of Rare Diseases:1500;Orphanet:839;SNOMED CT:197601003 2000-02-01 0 0 19 35848142 C T 35848142 35848142 - Haplotype 6872 RCV000007275 SCV000027471 21911 NPHS1 NM_004646.3:c.1339G>A NP_004637.1:p.Glu447Lys NM_004646.3:c.1339G>A:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 18, 2016 OMIM OMIM Finnish congenital nephrotic syndrome;NEPHROTIC SYNDROME, TYPE 1 10652016 germline Genetic Alliance:Congenital+Nephrotic+Syndrome+Finnish+Type/1861;MedGen:C0403399;OMIM:256300;OMIM:602716.0001;OMIM:602716.0002;OMIM:602716.0003;OMIM:602716.0004;OMIM:602716.0005;OMIM:602716.0006;OMIM:602716.0007;OMIM:602716.0008;OMIM:602716.0009;OMIM:602716.0010;Office of Rare Diseases:1500;Orphanet:839;SNOMED CT:197601003 2000-02-01 0 1 -19 38489352 AAG A 38489355 38489356 + Haplotype 29876 RCV000022757 SCV000044046 38831 RYR1 NM_000540.2:c.5726_5727delAG NP_000531.2:p.Glu1909Glyfs NM_000540.2:c.5726_5727delAG:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 07, 2012 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2012-09-07 0 0 -19 38504319 C T 38504319 38504319 + Haplotype 12985 RCV000013857 SCV000034104 28024 RYR1 NM_000540.2:c.8026C>T NP_000531.2:p.Arg2676Trp NM_000540.2:c.8026C>T:missense variant Uncertain significance risk factor 0 0 0 0 0 criteria provided, single submitter no assertion criteria provided Dec 02, 2013 OMIM OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627;14870754;16163667;16917943;20301325;23788249;25356965;27854360 germline GeneReviews:NBK1146;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 2004-01-01 1 0 -19 38505358 C G 38505358 38505358 + Haplotype 12985 RCV000013857 SCV000034104 38459 RYR1 NM_000540.2:c.8360C>G NP_000531.2:p.Thr2787Ser NM_000540.2:c.8360C>G:missense variant Benign/Likely benign risk factor 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Jun 14, 2016 OMIM OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627;14870754;16163667;16917943;20301325;23788249;25356965;27854360 germline GeneReviews:NBK1146;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 2004-01-01 2 0 -19 38512253 T C 38512253 38512253 + Haplotype 29876 RCV000022757 SCV000044046 51078 RYR1 NM_000540.2:c.9242T>C NP_000531.2:p.Met3081Thr NM_000540.2:c.9242T>C:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Jun 14, 2016 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2012-09-07 1 1 -19 41860817 G T 41860817 41860817 + Haplotype 6319 RCV000033188 SCV000057024 21358 RPS19 NM_001022.3:c.43G>T NP_001013.1:p.Val15Phe NM_001022.3:c.43G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Aug 03, 2015 OMIM OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610;20301769 germline GeneReviews:NBK7047;Genetic Alliance:Diamond-Blackfan+anemia+1/8226;MedGen:C2676137;OMIM:105650;Orphanet:124 2003-06-15 1 0 -19 41861204 C T 41861204 41861204 + Haplotype 6319 RCV000033188 SCV000057024 38387 RPS19 NM_001022.3:c.164C>T NP_001013.1:p.Thr55Met NM_001022.3:c.164C>T:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Nov 29, 2016 OMIM OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610;20301769 germline GeneReviews:NBK7047;Genetic Alliance:Diamond-Blackfan+anemia+1/8226;MedGen:C2676137;OMIM:105650;Orphanet:124 2003-06-15 1 0 +19 38489352 AAG A 38489355 38489356 + Haplotype 29876 RCV000022757 SCV000044046 38831 RYR1 NM_000540.2:c.5726_5727delAG NP_000531.2:p.Glu1909Glyfs NM_000540.2:c.5726_5727delAG:frameshift variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 2010 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 0 0 +19 38504319 C T 38504319 38504319 + Haplotype 12985 RCV000013857 SCV000034104 28024 RYR1 NM_000540.2:c.8026C>T NP_000531.2:p.Arg2676Trp NM_000540.2:c.8026C>T:missense variant Uncertain significance risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 02, 2013 OMIM OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627;14870754;16163667;16917943;20301325;23788249;25356965;27854360 germline GeneReviews:NBK1146;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 2004-01-01 0 0 +19 38505358 C G 38505358 38505358 + Haplotype 12985 RCV000013857 SCV000034104 38459 RYR1 NM_000540.2:c.8360C>G NP_000531.2:p.Thr2787Ser NM_000540.2:c.8360C>G:missense variant Benign/Likely benign risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 10, 2017 OMIM OMIM Malignant hyperthermia, susceptibility to, 1;MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 14732627;14870754;16163667;16917943;20301325;23788249;25356965;27854360 germline GeneReviews:NBK1146;MedGen:CN031421;OMIM:145600;Office of Rare Diseases:3363;Orphanet:423 2004-01-01 0 0 +19 38512253 T C 38512253 38512253 + Haplotype 29876 RCV000022757 SCV000044046 51078 RYR1 NM_000540.2:c.9242T>C NP_000531.2:p.Met3081Thr NM_000540.2:c.9242T>C:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Aug 08, 2017 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 20301467;20839240;22009146;23788249;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 1 1 +19 38523211 C G 38523211 38523211 + Haplotype 65396 RCV000022758 SCV000044047 70540 RYR1 NM_000540.2:c.10348-6C>G NM_000540.2:c.10348-6C>G:intron variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 11, 2017 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 18253926;20301467;20839240;22009146;23788249;27854218;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 0 0 +19 38580382 G A 38580382 38580382 + Haplotype 65396 RCV000022758 SCV000044047 38832 RYR1 NM_000540.2:c.14524G>A NP_000531.2:p.Val4842Met NM_000540.2:c.14524G>A:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jul 11, 2017 OMIM OMIM Minicore myopathy with external ophthalmoplegia;MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 18253926;20301467;20839240;22009146;23788249;27854218;27854360 germline GeneReviews:NBK1290;Genetic Alliance:Minicore+myopathy+with+external+ophthalmoplegia/4818;MedGen:C1850674;OMIM:255320;Office of Rare Diseases:10316;Orphanet:598 2010-11-01 1 0 +19 41860817 G T 41860817 41860817 + Haplotype 6319 RCV000033188 SCV000057024 21358 RPS19 NM_001022.3:c.43G>T NP_001013.1:p.Val15Phe NM_001022.3:c.43G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 03, 2015 OMIM OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610;20301769 germline GeneReviews:NBK7047;Genetic Alliance:Diamond-Blackfan+anemia+1/8226;MedGen:C2676137;OMIM:105650;Orphanet:124 2003-06-15 0 0 +19 41861204 C T 41861204 41861204 + Haplotype 6319 RCV000033188 SCV000057024 38387 RPS19 NM_001022.3:c.164C>T NP_001013.1:p.Thr55Met NM_001022.3:c.164C>T:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Feb 13, 2017 OMIM OMIM Diamond-Blackfan anemia 1;DIAMOND-BLACKFAN ANEMIA 1 12586610;20301769 germline GeneReviews:NBK7047;Genetic Alliance:Diamond-Blackfan+anemia+1/8226;MedGen:C2676137;OMIM:105650;Orphanet:124 2003-06-15 1 0 +19 44907807 G A 44907807 44907807 + Haplotype 441264 RCV000019443 SCV000039733 32899 APOE NM_000041.3:c.91G>A NP_000032.1:p.Glu31Lys NM_000041.3:c.91G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Nov 01, 1992 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA 1361196;1674745;22962670 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1992-11-01 0 0 +19 44907853 T C 44907853 44907853 + Haplotype 441268 RCV000019456 SCV000039746 32909 APOE NM_000041.3:c.137T>C NP_000032.1:p.Leu46Pro NM_000041.3:c.137T>C:missense variant Uncertain significance pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Feb 15, 2017 OMIM OMIM APOE4(-)-FREIBURG;APOE4(-)-FREIBURG 21500874 germline OMIM:107741.0023 2017-02-15 1 0 +19 44908601 C G 44908601 44908601 + Haplotype 441269 RCV000019458 SCV000039748 32911 APOE NM_000041.3:c.305C>G NP_000032.1:p.Pro102Arg NM_000041.3:c.305C>G:missense variant - association 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 10, 2018 OMIM OMIM APOE4 VARIANT;APOE4 VARIANT 18583979;21500874;2341812;3585172 germline OMIM:107741.0025;OMIM:107741.0028 2018-01-10 0 0 +19 44908645 G A 44908645 44908645 + Haplotype 441270 RCV000019459 SCV000039749 32912 APOE NM_000041.3:c.349G>A NP_000032.1:p.Ala117Thr NM_000041.3:c.349G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 2008 OMIM OMIM APOE3 VARIANT;APOE3 VARIANT 18583979;6327682 germline OMIM:107741.0026 2008-07-01 0 0 +19 44908684 T C 44908684 44908684 + Haplotype 440870;441267;441268;441269 RCV000019438;RCV000019455;RCV000019456;RCV000019458 SCV000039727;SCV000039745;SCV000039746;SCV000039748 32903 APOE NM_000041.3:c.388T>C NP_000032.1:p.Cys130Arg NM_000041.3:c.388T>C:missense variant Pathogenic, other pathogenic;association 3 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 10, 2018 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4;APOE4(-)-FREIBURG;APOE4 VARIANT 1730728;21500874;22962670;25333069;2539388;6860421;8488843;18583979;2341812;3585172 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005;OMIM:107741.0023;OMIM:107741.0025;OMIM:107741.0028 2017-02-14;1993-05-01;2017-02-15;2018-01-10 0 0 +19 44908730 G A 44908730 44908730 + Haplotype 441262 RCV000019439 SCV000039729 32895 APOE NM_000041.3:c.434G>A NP_000032.1:p.Gly145Asp NM_000041.3:c.434G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 01, 1984 OMIM OMIM Apolipoproteinemia E1;APOLIPOPROTEINEMIA E1 6323533 germline 1984-04-01 0 0 +19 44908774 C T 44908774 44908774 + Haplotype 440870 RCV000019438 SCV000039727 38488 APOE NM_000041.3:c.478C>T NP_000032.1:p.Arg160Cys NM_000041.3:c.478C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 14, 2017 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, AUTOSOMAL DOMINANT 1730728;21500874;22962670;25333069;2539388;6860421 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 2017-02-14 0 0 +19 44908783 C T 44908783 44908783 + Haplotype 441264 RCV000019443 SCV000039733 32890 APOE NM_000041.3:c.487C>T NP_000032.1:p.Arg163Cys NM_000041.3:c.487C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Nov 01, 1992 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, DUE TO APOE4-PHILADELPHIA 1361196;1674745;22962670 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1992-11-01 0 0 +19 44908804 G C 44908804 44908804 + Haplotype 441270 RCV000019459 SCV000039749 38495 APOE NM_000041.3:c.508G>C NP_000032.1:p.Ala170Pro NM_000041.3:c.508G>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 2008 OMIM OMIM APOE3 VARIANT;APOE3 VARIANT 18583979;6327682 germline OMIM:107741.0026 2008-07-01 0 0 +19 44908822 C T 44908822 44908822 + Haplotype 441262;441265;441266 RCV000019439;RCV000019452;RCV000019454 SCV000039729;SCV000039741;SCV000039744 32887 APOE NM_000041.3:c.526C>T NP_000032.1:p.Arg176Cys NM_000041.3:c.526C>T:missense variant drug response pathogenic 3 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 21, 2017 OMIM OMIM Apolipoproteinemia E1;APOLIPOPROTEINEMIA E1;Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2 6323533;22962670;8664327;8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1984-04-01;2017-02-21;1993-05-01 0 0 +19 44909021 G A 44909021 44909021 + Haplotype 441265 RCV000019452 SCV000039741 38490 APOE NM_000041.3:c.725G>A NP_000032.1:p.Arg242Gln NM_000041.3:c.725G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 21, 2017 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III 22962670;8664327 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 2017-02-21 0 0 +19 44909057 T A 44909057 44909057 + Haplotype 441266 RCV000019454 SCV000039744 38491 APOE NM_000041.3:c.761T>A NP_000032.1:p.Val254Glu NM_000041.3:c.761T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 1993 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE2 22962670;8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1993-05-01 0 0 +19 44909080 G A 44909080 44909080 + Haplotype 441263 RCV000019435 SCV000039725 32893 APOE NM_000041.3:c.784G>A NP_000032.1:p.Glu262Lys NM_000041.3:c.784G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 01, 1995 OMIM OMIM HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7;HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7 2470732;2738044;6480826;7586659 germline OMIM:107741.0007 1995-08-01 0 0 +19 44909083 G A 44909083 44909083 + Haplotype 441263 RCV000019435 SCV000039725 38487 APOE NM_000041.3:c.787G>A NP_000032.1:p.Glu263Lys NM_000041.3:c.787G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 01, 1995 OMIM OMIM HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7;HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE7 2470732;2738044;6480826;7586659 germline OMIM:107741.0007 1995-08-01 0 0 +19 44909101 C G 44909101 44909101 + Haplotype 441267 RCV000019455 SCV000039745 38492 APOE NM_000041.3:c.805C>G NP_000032.1:p.Arg269Gly NM_000041.3:c.805C>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 01, 1993 OMIM OMIM Familial type 3 hyperlipoproteinemia;HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE4 21500874;22962670;8488843 germline MedGen:C0020479;OMIM:617347;SNOMED CT:398796005 1993-05-01 0 0 19 46755524 C A 46755524 46755524 + Phase unknown 224674 RCV000226653 SCV000265787 226485 FKRP NM_024301.4:c.74C>A NP_077277.1:p.Ser25Ter NM_024301.4:c.74C>A:nonsense - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Dec 01, 2015 Center for Genetic Medicine Research,Children's National Medical Center Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;MedGen:C1846672;OMIM:606596.0004;OMIM:606596.0005;OMIM:606596.0006;OMIM:606596.0011;OMIM:606596.0012;OMIM:606596.0013;OMIM:606596.0014;OMIM:606596.0015;OMIM:606596.0016;OMIM:607155;Orphanet:34515 2015-12-01 0 0 19 46755524 CGT C 46755526 46755527 + Phase unknown 224674 RCV000226653 SCV000265787 226486 FKRP NM_024301.4:c.76_77delTG NP_077277.1:p.Trp26Alafs NM_024301.4:c.76_77delTG:frameshift variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant criteria provided, single submitter Dec 01, 2015 Center for Genetic Medicine Research,Children's National Medical Center Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;MedGen:C1846672;OMIM:606596.0004;OMIM:606596.0005;OMIM:606596.0006;OMIM:606596.0011;OMIM:606596.0012;OMIM:606596.0013;OMIM:606596.0014;OMIM:606596.0015;OMIM:606596.0016;OMIM:607155;Orphanet:34515 2015-12-01 0 0 -19 46756276 C A 46756276 46756276 + Phase unknown 224674 RCV000226653 SCV000265787 19260 FKRP NM_024301.4:c.826C>A NP_077277.1:p.Leu276Ile NM_024301.4:c.826C>A:missense variant Pathogenic likely pathogenic 0 1 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 18, 2017 Center for Genetic Medicine Research,Children's National Medical Center Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;MedGen:C1846672;OMIM:606596.0004;OMIM:606596.0005;OMIM:606596.0006;OMIM:606596.0011;OMIM:606596.0012;OMIM:606596.0013;OMIM:606596.0014;OMIM:606596.0015;OMIM:606596.0016;OMIM:607155;Orphanet:34515 2015-12-01 2 0 -20 4699605 A G 4699605 4699605 + Haplotype 13399 RCV000014336;RCV000014337 SCV000034585;SCV000034586 28436 PRNP NM_000311.4:c.385A>G NP_000302.1:p.Met129Val NM_000311.4:c.385A>G:missense variant;NM_001271561.1:c.*74A>G:3 prime UTR variant Benign/Likely benign, risk factor pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided Jun 14, 2016 OMIM OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE;Fatal familial insomnia 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20298421;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008 2008-11-26 1 0 -20 4699752 G A 4699752 4699752 + Haplotype 13399 RCV000014336;RCV000014337 SCV000034585;SCV000034586 28438 PRNP NM_000311.4:c.532G>A NP_000302.1:p.Asp178Asn NM_000311.4:c.532G>A:missense variant;NM_001271561.1:c.*221G>A:3 prime UTR variant Pathogenic pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 05, 2010 OMIM OMIM Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE;Fatal familial insomnia 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20298421;20301407;7709737;9751723 germline GeneReviews:NBK1229;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008 2008-11-26 0 0 -20 10412791 C A 10412791 10412791 - Haplotype 5308 RCV000005632 SCV000025814 38435 MKKS NM_170784.2:c.724G>T NP_740754.1:p.Ala242Ser NM_170784.2:c.724G>T:missense variant;NR_072977.1:n.364-3988G>T:intron variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 25, 2017 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 0 1 -20 10413265 G A 10413265 10413265 - Haplotype 5308 RCV000005632 SCV000025814 20347 MKKS NM_170784.2:c.250C>T NP_740754.1:p.His84Tyr NM_170784.2:c.250C>T:missense variant;NR_072977.1:n.364-4462C>T:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 15, 2005 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 0 0 +19 46756276 C A 46756276 46756276 + Phase unknown 224674 RCV000226653 SCV000265787 19260 FKRP NM_024301.4:c.826C>A NP_077277.1:p.Leu276Ile NM_024301.4:c.826C>A:missense variant Pathogenic likely pathogenic 0 1 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 07, 2017 Center for Genetic Medicine Research,Children's National Medical Center Center for Genetic Medicine Research,Children's National Medical Center Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 27854218 unknown Genetic Alliance:Limb-girdle+muscular+dystrophy-dystroglycanopathy%2C+type+C5/8754;MedGen:C1846672;OMIM:606596.0004;OMIM:606596.0005;OMIM:606596.0006;OMIM:606596.0011;OMIM:606596.0012;OMIM:606596.0013;OMIM:606596.0014;OMIM:606596.0015;OMIM:606596.0016;OMIM:607155;Orphanet:34515 2015-12-01 2 0 +19 48965326 C T 48965326 48965326 + Haplotype 441527 RCV000017941 SCV000038220 31516 FTL NM_000146.3:c.-182C>T NM_000146.3:c.-182C>T:5 prime UTR variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 19, 2013 OMIM OMIM Hyperferritinemia cataract syndrome;HYPERFERRITINEMIA WITH OR WITHOUT CATARACT 23421845;9226182 germline Genetic Alliance:Hyperferritinemia+cataract+syndrome/3553;Genetics Home Reference:hyperferritinemia-cataract-syndrome;MedGen:C1833213;OMIM:134790.0001;OMIM:134790.0002;OMIM:134790.0003;OMIM:134790.0004;OMIM:134790.0005;OMIM:134790.0006;OMIM:134790.0007;OMIM:134790.0008;OMIM:134790.0009;OMIM:134790.0011;OMIM:134790.0012;OMIM:134790.0017;OMIM:134790.0020;OMIM:600886;Office of Rare Diseases:2806;Orphanet:163 2013-02-19 0 0 +19 48965330 T G 48965330 48965330 + Haplotype 441527 RCV000017941 SCV000038220 260732 FTL NM_000146.3:c.-178T>G NM_000146.3:c.-178T>G:5 prime UTR variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 19, 2013 OMIM OMIM Hyperferritinemia cataract syndrome;HYPERFERRITINEMIA WITH OR WITHOUT CATARACT 23421845;9226182 germline Genetic Alliance:Hyperferritinemia+cataract+syndrome/3553;Genetics Home Reference:hyperferritinemia-cataract-syndrome;MedGen:C1833213;OMIM:134790.0001;OMIM:134790.0002;OMIM:134790.0003;OMIM:134790.0004;OMIM:134790.0005;OMIM:134790.0006;OMIM:134790.0007;OMIM:134790.0008;OMIM:134790.0009;OMIM:134790.0011;OMIM:134790.0012;OMIM:134790.0017;OMIM:134790.0020;OMIM:600886;Office of Rare Diseases:2806;Orphanet:163 2013-02-19 0 0 +19 49016626 A G 49016626 49016626 - Haplotype 441529 RCV000015495 SCV000035760 38465 LHB NM_000894.2:c.104T>C NP_000885.1:p.Ile35Thr NM_000894.2:c.104T>C:missense variant - benign 0 0 0 0 1 no assertion for the individual variant no assertion criteria provided Mar 01, 2003 OMIM OMIM LUTEINIZING HORMONE POLYMORPHISM;LUTEINIZING HORMONE POLYMORPHISM 10199775;10323405;10468997;12620433;1727817;7714098;7904610;8784083 germline OMIM:152780.0002 2003-03-01 0 0 +19 49016648 A G 49016648 49016648 - Haplotype 441529 RCV000015495 SCV000035760 29453 LHB NM_000894.2:c.82T>C NP_000885.1:p.Trp28Arg NM_000894.2:c.82T>C:missense variant - benign 0 0 0 0 1 no assertion for the individual variant no assertion criteria provided Mar 01, 2003 OMIM OMIM LUTEINIZING HORMONE POLYMORPHISM;LUTEINIZING HORMONE POLYMORPHISM 10199775;10323405;10468997;12620433;1727817;7714098;7904610;8784083 germline OMIM:152780.0002 2003-03-01 0 0 +20 4699605 A G 4699605 4699605 + Haplotype 13399;453225;453226 RCV000014337;RCV000032588;RCV000014336 SCV000034586;SCV000034587;SCV000034585 28436 PRNP NM_000311.4:c.385A>G NP_000302.1:p.Met129Val NM_000311.4:c.385A>G:missense variant;NM_001271561.1:c.*74A>G:3 prime UTR variant Benign/Likely benign, risk factor pathogenic 3 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2016 OMIM OMIM Fatal familial insomnia;FATAL FAMILIAL INSOMNIA;Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20301407;7709737;9751723;1347910;1357594;14732629;15623717;15806397;20038778;7630420;7783865;8105681;20298421 germline GeneReviews:NBK1229;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004 2008-11-26;2010-01-05 0 0 +20 4699752 G A 4699752 4699752 + Haplotype 13399;453225;453226 RCV000014337;RCV000032588;RCV000014336 SCV000034586;SCV000034587;SCV000034585 28438 PRNP NM_000311.4:c.532G>A NP_000302.1:p.Asp178Asn NM_000311.4:c.532G>A:missense variant;NM_001271561.1:c.*221G>A:3 prime UTR variant Pathogenic pathogenic 3 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 05, 2010 OMIM OMIM Fatal familial insomnia;FATAL FAMILIAL INSOMNIA;Jakob-Creutzfeldt disease;CREUTZFELDT-JAKOB DISEASE 10581230;12205650;1353341;1353342;1469441;16227536;1671440;1671983;1684756;19038218;20301407;7709737;9751723;1347910;1357594;14732629;15623717;15806397;20038778;7630420;7783865;8105681;20298421 germline GeneReviews:NBK1229;Genetic Alliance:Fatal+Familial+Insomnia/2793;MedGen:C0206042;OMIM:600072;Orphanet:466;SNOMED CT:83157008;Genetic Alliance:Creutzfeldt-Jakob+Disease/2006;MedGen:C0022336;OMIM:123400;Office of Rare Diseases:6956;Orphanet:204;Orphanet:282166;Orphanet:454700;SNOMED CT:792004 2008-11-26;2010-01-05 0 0 +20 10412791 C A 10412791 10412791 - Haplotype 448914 RCV000005632 SCV000025814 38435 MKKS NM_170784.2:c.724G>T NP_740754.1:p.Ala242Ser NM_170784.2:c.724G>T:missense variant;NR_072977.1:n.364-3988G>T:intron variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided Aug 15, 2017 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 1 1 +20 10413265 G A 10413265 10413265 - Haplotype 448914 RCV000005632 SCV000025814 20347 MKKS NM_170784.2:c.250C>T NP_740754.1:p.His84Tyr NM_170784.2:c.250C>T:missense variant;NR_072977.1:n.364-4462C>T:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 15, 2005 OMIM OMIM McKusick Kaufman syndrome;MCKUSICK-KAUFMAN SYNDROME 10802661;16104012;20301675 germline GeneReviews:NBK1502;Genetic Alliance:McKusick+Kaufman+syndrome/4529;MedGen:C0948368;OMIM:236700;Office of Rare Diseases:3427;Orphanet:2473 2005-09-15 0 0 20 41114115 A G 41114115 41114115 + Haplotype 16773 RCV000018261 SCV000038540 31812 TOP1 NM_003286.3:c.1598A>G NP_003277.1:p.Asp533Gly NM_003286.3:c.1598A>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 11, 1991 OMIM OMIM DNA topoisomerase I, camptothecin-resistant;DNA TOPOISOMERASE I, CAMPTOTHECIN-RESISTANT 1849260 germline MedGen:C4016020 1991-01-11 0 0 20 44626502 G C 44626502 44626502 - Haplotype 1981 RCV000002058 SCV000022216 38420 ADA NM_000022.3:c.316C>G NP_001308979.1:p.Thr9= NM_000022.3:c.316C>G:missense variant;NM_001322050.1:c.27C>G:synonymous variant;NR_136160.1:n.467C>G:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 01, 1997 OMIM OMIM Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency;SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY 3304460;9361033 germline MedGen:C0392607 1997-12-01 0 0 20 44626528 T C 44626528 44626528 - Haplotype 1981 RCV000002058 SCV000022216 17020 ADA NM_000022.3:c.290A>G NP_000013.2:p.Tyr97Cys NM_000022.3:c.290A>G:missense variant;NR_136160.1:n.441A>G:non-coding transcript variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 01, 1997 OMIM OMIM Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency;SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY 3304460;9361033 germline MedGen:C0392607 1997-12-01 0 0 -20 63413478 G T 63413478 63413478 Haplotype 369808 RCV000408720 SCV000484644 390693 NM_172107.3:c.1735C>A NP_742105.1:p.Leu579Met NM_172107.3:c.1735C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 31, 2016 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 0 0 -20 63413479 C T 63413479 63413479 Haplotype 369808 RCV000408720 SCV000484644 390692 NM_172107.3:c.1734G>A NP_742105.1:p.Met578Ile NM_172107.3:c.1734G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 31, 2016 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 0 0 +20 63413478 G T 63413478 63413478 - Haplotype 369808 RCV000408720 SCV000484644 390693 KCNQ2 NM_172107.3:c.1735C>A NP_742105.1:p.Leu579Met NM_172107.3:c.1735C>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 31, 2016 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 0 0 +20 63413478 GC TT 63413478 63413479 - Haplotype 369808 RCV000408720 SCV000484644 203721 KCNQ2 NM_172107.3:c.1734_1735delGCinsAA NP_742105.1:p.Met578_Leu579delinsIleMet NM_172107.3:c.1734_1735delGCinsAA:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 31, 2016 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 0 0 +20 63413479 C T 63413479 63413479 - Haplotype 369808 RCV000408720 SCV000484644 390692 KCNQ2 NM_172107.3:c.1734G>A NP_742105.1:p.Met578Ile NM_172107.3:c.1734G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Mar 31, 2016 GeneReviews GeneReviews Early infantile epileptic encephalopathy 7 20437616;25818041 germline GeneReviews:NBK32534;Genetic Alliance:Epileptic+encephalopathy%2C+early+infantile%2C+7/8345;MedGen:C3150986;OMIM:613720;Orphanet:439218 2016-03-31 0 0 21 33579447 T G 33579447 33579447 - Haplotype 431417 RCV000496974 SCV000588191 424961 DONSON NM_017613.3:c.1466A>C NP_060083.1:p.Lys489Thr NM_017613.3:c.1466A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 04, 2017 OMIM OMIM MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES;MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 28191891 germline MedGen:CN373593;OMIM:611428.0001;OMIM:611428.0002;OMIM:611428.0003;OMIM:611428.0004;OMIM:611428.0005;OMIM:611428.0006;OMIM:611428.0007;OMIM:617604 2017-08-04 0 0 21 33583699 T C 33583699 33583699 - Haplotype 431417 RCV000496974 SCV000588191 424940 DONSON NM_017613.3:c.786-33A>G NM_017613.3:c.786-33A>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 04, 2017 OMIM OMIM MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES;MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 28191891 germline MedGen:CN373593;OMIM:611428.0001;OMIM:611428.0002;OMIM:611428.0003;OMIM:611428.0004;OMIM:611428.0005;OMIM:611428.0006;OMIM:611428.0007;OMIM:617604 2017-08-04 0 0 21 33588560 T G 33588560 33588560 - Haplotype 431417 RCV000496974 SCV000588191 424962 DONSON NM_017613.3:c.82A>C NP_060083.1:p.Ser28Arg NM_017613.3:c.82A>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 04, 2017 OMIM OMIM MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES;MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 28191891 germline MedGen:CN373593;OMIM:611428.0001;OMIM:611428.0002;OMIM:611428.0003;OMIM:611428.0004;OMIM:611428.0005;OMIM:611428.0006;OMIM:611428.0007;OMIM:617604 2017-08-04 0 0 21 36461442 A T 36461442 36461442 - Haplotype 375673 RCV000417144 SCV000494729 19890 CLDN14 NM_012130.3:c.254T>A NP_036262.1:p.Val85Asp NM_001146077.1:c.254T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 30, 2016 Laboratory of Molecular Genetics,National Institutes of Health Laboratory of Molecular Genetics,National Institutes of Health Perrault Syndrome;Deafness;Primary ovarian insufficiency;Perrault Syndrome germline Illumina Clinical Services Laboratory,Illumina:37522;MedGen:CN239459 2016-08-30 0 0 21 46131981 G A 46131981 46131981 + Haplotype 29642 RCV000022490 SCV000043779 38596 COL6A2 NM_001849.3:c.2489G>A NP_001840.3:p.Arg830Gln NM_001849.3:c.2489G>A:missense variant Conflicting interpretations of pathogenicity pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 08, 2015 OMIM OMIM BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE;BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE 18852439;19949035 germline OMIM:120240.0011;OMIM:120240.0017;OMIM:120240.0018;OMIM:120240.0019 2009-12-01 0 1 -21 46132019 C T 46132019 46132019 + Haplotype 29642 RCV000022490 SCV000043779 38597 COL6A2 NM_001849.3:c.2527C>T NP_001840.3:p.Arg843Trp NM_001849.3:c.2527C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter no assertion criteria provided Sep 13, 2016 OMIM OMIM BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE;BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE 18852439;19949035 germline OMIM:120240.0011;OMIM:120240.0017;OMIM:120240.0018;OMIM:120240.0019 2009-12-01 1 0 +21 46132019 C T 46132019 46132019 + Haplotype 29642 RCV000022490 SCV000043779 38597 COL6A2 NM_001849.3:c.2527C>T NP_001840.3:p.Arg843Trp NM_001849.3:c.2527C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Sep 13, 2016 OMIM OMIM BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE;BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE 18852439;19949035 germline OMIM:120240.0011;OMIM:120240.0017;OMIM:120240.0018;OMIM:120240.0019 2009-12-01 0 0 22 23767463 C G 23767463 23767463 - Haplotype 180222;204293 RCV000157071;RCV000192234 SCV000206796;SCV000239873 178410 CHCHD10 NM_213720.2:c.172G>C NP_998885.1:p.Gly58Arg NM_213720.2:c.172G>C:missense variant;NR_125755.1:n.217G>C:non-coding transcript variant;NR_125756.1:n.139+371G>C:intron variant - pathogenic 2 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 14, 2015 OMIM;GeneReviews OMIM;GeneReviews Myopathy, isolated mitochondrial, autosomal dominant;MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (1 family) 25193783;26131548;9324076;2519378 germline GeneReviews:NBK304142;MedGen:C4015513;OMIM:616209;Orphanet:457050 2015-01-01;2015-04-14 0 0 22 23767592 G C 23767592 23767592 - Haplotype 204293 RCV000192234 SCV000239873 200690 CHCHD10 NM_213720.2:c.43C>G NP_998885.1:p.Arg15Gly NM_213720.2:c.43C>G:missense variant;NR_125755.1:n.140-52C>G:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 14, 2015 GeneReviews GeneReviews Myopathy, isolated mitochondrial, autosomal dominant;Myopathy, isolated mitochondrial, autosomal dominant 2519378;26131548 germline GeneReviews:NBK304142;MedGen:C4015513;OMIM:616209;Orphanet:457050 2015-04-14 0 0 22 23767592 G T 23767592 23767592 - Haplotype 180222 RCV000157071 SCV000206796 178409 CHCHD10 NM_213720.2:c.43C>A NP_998885.1:p.Arg15Ser NM_213720.2:c.43C>A:missense variant;NR_125755.1:n.140-52C>A:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 02, 2015 OMIM OMIM Myopathy, isolated mitochondrial, autosomal dominant;MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (1 family) 25193783;26131548;9324076 germline GeneReviews:NBK304142;MedGen:C4015513;OMIM:616209;Orphanet:457050 2015-01-01 0 0 22 25229472 C A 25229472 25229472 + Haplotype 217348 RCV000203383 SCV000256031 214001 CRYBB2 NM_000496.2:c.343C>A NP_000487.1:p.Pro115Thr NM_000496.2:c.343C>A:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 09, 2015 Eye Genetics Research Group,Children's Medical Research Institute Eye Genetics Research Group,Children's Medical Research Institute Congenital cataract 26694549 de novo Human Phenotype Ontology:HP:0000519;Human Phenotype Ontology:HP:0001108;Human Phenotype Ontology:HP:0007679;Human Phenotype Ontology:HP:0007726;Human Phenotype Ontology:HP:0007788;MedGen:C1842324 2015-01-09 0 0 -22 25229484 G A 25229484 25229484 + Haplotype 217348 RCV000203383 SCV000256031 214002 CRYBB2 NM_000496.2:c.355G>A NP_000487.1:p.Gly119Arg NM_000496.2:c.355G>A:missense variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 09, 2015 Eye Genetics Research Group,Children's Medical Research Institute Eye Genetics Research Group,Children's Medical Research Institute Congenital cataract 26694549 de novo Human Phenotype Ontology:HP:0000519;Human Phenotype Ontology:HP:0001108;Human Phenotype Ontology:HP:0007679;Human Phenotype Ontology:HP:0007726;Human Phenotype Ontology:HP:0007788;MedGen:C1842324 2015-01-09 0 0 -22 36265860 A G 36265860 36265860 + Haplotype 6080 RCV000006453 SCV000026636 21119 APOL1 NM_145343.2:c.1072A>G NP_663318.1:p.Ser358Gly NM_145343.2:c.1072A>G:missense variant not provided risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 09, 2014 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-10-25 0 0 -22 36265988 T G 36265988 36265988 + Haplotype 6080 RCV000006453 SCV000026636 76004 APOL1 NM_145343.2:c.1200T>G NP_663318.1:p.Ile400Met NM_145343.2:c.1200T>G:missense variant not provided risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 09, 2014 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-10-25 0 0 +22 25229484 G A 25229484 25229484 + Haplotype 217348 RCV000203383 SCV000256031 214002 CRYBB2 NM_000496.2:c.355G>A NP_000487.1:p.Gly119Arg NM_000496.2:c.355G>A:missense variant Pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter no assertion criteria provided Jul 10, 2017 Eye Genetics Research Group,Children's Medical Research Institute Eye Genetics Research Group,Children's Medical Research Institute Congenital cataract 26694549 de novo Human Phenotype Ontology:HP:0000519;Human Phenotype Ontology:HP:0001108;Human Phenotype Ontology:HP:0007679;Human Phenotype Ontology:HP:0007726;Human Phenotype Ontology:HP:0007788;MedGen:C1842324 2015-01-09 1 0 +22 36265860 A G 36265860 36265860 + Haplotype 6080 RCV000006453 SCV000026636 21119 APOL1 NM_145343.2:c.1072A>G NP_663318.1:p.Ser358Gly NM_145343.2:c.1072A>G:missense variant not provided risk factor 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided Dec 09, 2014 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-08-13 0 0 +22 36265988 T G 36265988 36265988 + Haplotype 6080 RCV000006453 SCV000026636 76004 APOL1 NM_145343.2:c.1200T>G NP_663318.1:p.Ile400Met NM_145343.2:c.1200T>G:missense variant not provided risk factor 0 0 0 0 0 no assertion provided no assertion criteria provided Dec 09, 2014 OMIM OMIM Focal segmental glomerulosclerosis 4, susceptibility to;FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO 20647424;24206458 germline Genetic Alliance:Focal+segmental+glomerulosclerosis+4%2C+susceptibility+to/8438;MedGen:C2675525;OMIM:612551;Orphanet:84271 2010-08-13 0 0 22 40361619 G C 40361619 40361619 + Haplotype 208488 RCV000190501 SCV000245387 205025 ADSL NM_000026.3:c.994G>C NP_000017.1:p.Asp332His NM_000026.3:c.994G>C:missense variant;NR_134256.1:n.1053G>C:non-coding transcript variant - likely pathogenic 0 1 0 0 0 no assertion for the individual variant no assertion criteria provided Feb 17, 2014 Mendelics Analise Genomica Mendelics Analise Genomica Adenylosuccinate lyase deficiency;Adenylosuccinate lyase deficiency 10090474;23519317 germline Genetic Alliance:Adenylosuccinase+Deficiency/230;MedGen:C0268126;OMIM:103050;Office of Rare Diseases:550;Orphanet:46;SNOMED CT:15285008 2014-02-17 0 0 -22 40364965 G A 40364965 40364965 + Haplotype 208488 RCV000190501 SCV000245387 17501 ADSL NM_000026.3:c.1277G>A NP_000017.1:p.Arg426His NM_000026.3:c.1277G>A:missense variant;NM_001123378.1:c.1191+600G>A:intron variant;NR_134256.1:n.1367G>A:non-coding transcript variant Pathogenic likely pathogenic 0 1 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Feb 13, 2017 Mendelics Analise Genomica Mendelics Analise Genomica Adenylosuccinate lyase deficiency;Adenylosuccinate lyase deficiency 10090474;23519317 germline Genetic Alliance:Adenylosuccinase+Deficiency/230;MedGen:C0268126;OMIM:103050;Office of Rare Diseases:550;Orphanet:46;SNOMED CT:15285008 2014-02-17 2 0 +22 40364965 G A 40364965 40364965 + Haplotype 208488 RCV000190501 SCV000245387 17501 ADSL NM_000026.3:c.1277G>A NP_000017.1:p.Arg426His NM_000026.3:c.1277G>A:missense variant;NM_001123378.1:c.1191+600G>A:intron variant;NR_134256.1:n.1367G>A:non-coding transcript variant Pathogenic likely pathogenic 0 1 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Sep 12, 2017 Mendelics Analise Genomica Mendelics Analise Genomica Adenylosuccinate lyase deficiency;Adenylosuccinate lyase deficiency 10090474;23519317 germline Genetic Alliance:Adenylosuccinase+Deficiency/230;MedGen:C0268126;OMIM:103050;Office of Rare Diseases:550;Orphanet:46;SNOMED CT:15285008 2014-02-17 2 0 22 42126611 C G 42126611 42126611 - Haplotype 16895 RCV000018391 SCV000038673 38485 CYP2D6 NM_000106.5:c.1457G>C NP_000097.3:p.Ser486Thr NM_000106.5:c.1457G>C:missense variant - drug response 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 18, 2015 OMIM OMIM Debrisoquine, ultrarapid metabolism of;DEBRISOQUINE, ULTRARAPID METABOLISM OF 7903454;7927337 germline MedGen:C1837157 2015-05-18 0 0 22 42127941 G A 42127941 42127941 - Haplotype 16895 RCV000018391 SCV000038673 31934 CYP2D6 NM_000106.5:c.886C>T NP_000097.3:p.Arg296Cys NM_000106.5:c.886C>T:missense variant - drug response 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 18, 2015 OMIM OMIM Debrisoquine, ultrarapid metabolism of;DEBRISOQUINE, ULTRARAPID METABOLISM OF 7903454;7927337 germline MedGen:C1837157 2015-05-18 0 0 X 13750693 TCTCAAACACTTGGG T 13750699 13750712 Haplotype 11542 RCV000012298 SCV000032532 76962 NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA NM_003611.2:c.936-550_936-537delACACTTGGGCTCAA:intron variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 2004 OMIM OMIM Oral-facial-digital syndrome;OROFACIODIGITAL SYNDROME I 15221448;20301367 germline GeneReviews:NBK1188;Genetic Alliance:Orofaciodigital+syndromes/5428;MedGen:C1510460;OMIM:311200;Office of Rare Diseases:4121;Orphanet:2750;SNOMED CT:52868006 2004-07-01 0 0 X 22094005 T C 22094005 22094005 + Haplotype 10818 RCV000011565 SCV000031797 25857 PHEX NM_000444.5:c.755T>C NP_000435.3:p.Phe252Ser NM_000444.5:c.755T>C:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 01, 1997 OMIM OMIM Familial X-linked hypophosphatemic vitamin D refractory rickets;HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 22319799;7550339;9106524 germline GeneReviews:NBK83985;Genetic Alliance:Familial+Hypophosphatemic+Rickets/2752;MedGen:C0733682;OMIM:307800;Office of Rare Diseases:6735;Orphanet:89936;SNOMED CT:82236004 1997-04-01 0 0 X 22094009 G A 22094009 22094009 + Haplotype 10818 RCV000011565 SCV000031797 38453 PHEX NM_000444.5:c.759G>A NP_000435.3:p.Met253Ile NM_000444.5:c.759G>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 01, 1997 OMIM OMIM Familial X-linked hypophosphatemic vitamin D refractory rickets;HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT 22319799;7550339;9106524 germline GeneReviews:NBK83985;Genetic Alliance:Familial+Hypophosphatemic+Rickets/2752;MedGen:C0733682;OMIM:307800;Office of Rare Diseases:6735;Orphanet:89936;SNOMED CT:82236004 1997-04-01 0 0 -X 101403846 G A 101403846 101403846 - Haplotype 10723 RCV000011470 SCV000031702 38452 GLA NM_000169.2:c.334C>T NP_000160.1:p.Arg112Cys NM_000169.2:c.334C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 09, 2017 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 2 0 -X 101403984 C G 101403984 101403984 - Haplotype 10723 RCV000011470 SCV000031702 25762 GLA NM_000169.2:c.196G>C NP_000160.1:p.Glu66Gln NM_000169.2:c.196G>C:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 24, 2013 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 0 0 +X 101403846 G A 101403846 101403846 - Haplotype 10723 RCV000011470 SCV000031702 38452 GLA NM_000169.2:c.334C>T NP_000160.1:p.Arg112Cys NM_000169.2:c.334C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided Mar 09, 2017 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetic Testing Registry (GTR):GTR000558532;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 2 0 +X 101403984 C G 101403984 101403984 - Haplotype 10723 RCV000011470 SCV000031702 25762 GLA NM_000169.2:c.196G>C NP_000160.1:p.Glu66Gln NM_000169.2:c.196G>C:missense variant Uncertain significance pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 24, 2013 OMIM OMIM Fabry disease;FABRY DISEASE 12735292;1315715;16980809;20301469;20505683;20610207;21934708;23788249;23860966;25173338;25355838;25356965;27854360 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function germline GeneReviews:NBK1292;Genetic Alliance:Fabry+Disease/2690;Genetic Testing Registry (GTR):GTR000246735;Genetic Testing Registry (GTR):GTR000260631;Genetic Testing Registry (GTR):GTR000325415;Genetic Testing Registry (GTR):GTR000327665;Genetic Testing Registry (GTR):GTR000337467;Genetic Testing Registry (GTR):GTR000500007;Genetic Testing Registry (GTR):GTR000503671;Genetic Testing Registry (GTR):GTR000505068;Genetic Testing Registry (GTR):GTR000507480;Genetic Testing Registry (GTR):GTR000507942;Genetic Testing Registry (GTR):GTR000512526;Genetic Testing Registry (GTR):GTR000514924;Genetic Testing Registry (GTR):GTR000519366;Genetic Testing Registry (GTR):GTR000519384;Genetic Testing Registry (GTR):GTR000520061;Genetic Testing Registry (GTR):GTR000520062;Genetic Testing Registry (GTR):GTR000520063;Genetic Testing Registry (GTR):GTR000520414;Genetic Testing Registry (GTR):GTR000520447;Genetic Testing Registry (GTR):GTR000522329;Genetic Testing Registry (GTR):GTR000522527;Genetic Testing Registry (GTR):GTR000528276;Genetic Testing Registry (GTR):GTR000528288;Genetic Testing Registry (GTR):GTR000528500;Genetic Testing Registry (GTR):GTR000528516;Genetic Testing Registry (GTR):GTR000528528;Genetic Testing Registry (GTR):GTR000528536;Genetic Testing Registry (GTR):GTR000551442;Genetic Testing Registry (GTR):GTR000552214;Genetic Testing Registry (GTR):GTR000556501;Genetic Testing Registry (GTR):GTR000556520;Genetic Testing Registry (GTR):GTR000556725;Genetic Testing Registry (GTR):GTR000558532;Genetics Home Reference:fabry-disease;MedGen:C0002986;OMIM:301500;Office of Rare Diseases:6400;Orphanet:324;SNOMED CT:16652001 2010-08-01 0 0 X 108580713 G T 108580713 108580713 + Haplotype 10464 RCV000011210 SCV000031437 35671 COL4A5 NM_033380.2:c.866G>T NP_203699.1:p.Gly289Val NM_000495.4:c.866G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Dec 04, 2012 OMIM OMIM Alport syndrome, X-linked recessive;ALPORT SYNDROME, X-LINKED 20301386;22166944;7706490;9195222 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome/335;MedGen:C1567742;OMIM:301050;Orphanet:63;Orphanet:88917 1995-04-01 0 0 X 108686096 C T 108686096 108686096 + Haplotype 10464 RCV000011210 SCV000031437 38451 COL4A5 NM_033380.2:c.4282C>T NP_203699.1:p.Arg1428Cys NM_000495.4:c.4264C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Apr 01, 1995 OMIM OMIM Alport syndrome, X-linked recessive;ALPORT SYNDROME, X-LINKED 20301386;22166944;7706490;9195222 germline GeneReviews:NBK1207;Genetic Alliance:Alport+Syndrome/335;MedGen:C1567742;OMIM:301050;Orphanet:63;Orphanet:88917 1995-04-01 0 0 X 136656393 T A 136656393 136656393 + Haplotype 11158 RCV000011908 SCV000032141 26197 CD40LG NM_000074.2:c.384T>A NP_000065.1:p.Ser128Arg NM_000074.2:c.384T>A:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jan 29, 1993 OMIM OMIM Immunodeficiency with hyper IgM type 1;IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 20301576;7678782 germline GeneReviews:NBK1402;Genetic Alliance:Immunodeficiency+with+hyper+IgM+type+1/3776;MedGen:C0398689;OMIM:308230;Office of Rare Diseases:73 1993-01-29 0 0 @@ -477,9 +544,9 @@ X 149482933 C G 149482933 149482933 - Haplotype 10502 RCV000011248 SCV000031475 X 149482935 C A 149482935 149482935 - Haplotype 10502 RCV000011248 SCV000031475 38394 IDS NM_000202.7:c.1464G>T NP_000193.1:p.Met488Ile NM_000202.7:c.1464G>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jul 01, 2003 OMIM OMIM Mucopolysaccharidosis, MPS-II;MUCOPOLYSACCHARIDOSIS, TYPE II 12794697;20301451;21863056;25071396 germline GeneReviews:NBK1274;Genetic Alliance:Mucopolysaccharidosis+type+II/4913;MedGen:C0026705;OMIM:309900;Orphanet:580;SNOMED CT:70737009 2003-07-01 0 0 X 149482996 C T 149482996 149482996 - Haplotype 221203 RCV000204179 SCV000262516 25537 IDS NM_000202.7:c.1403G>A NP_000193.1:p.Arg468Gln NM_000202.7:c.1403G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 25, 2013 LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata Mucopolysaccharidosis, MPS-II 18414213;20301451;21863056;25071396 maternal GeneReviews:NBK1274;Genetic Alliance:Mucopolysaccharidosis+type+II/4913;MedGen:C0026705;OMIM:309900;Orphanet:580;SNOMED CT:70737009 2007-05-16 2 0 X 149483005 T A 149483005 149483005 - Haplotype 221203 RCV000204179 SCV000262516 222899 IDS NM_000202.7:c.1394A>T NP_000193.1:p.Gln465Leu NM_000202.7:c.1394A>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant criteria provided, single submitter May 16, 2007 LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata Mucopolysaccharidosis, MPS-II 18414213;20301451;21863056;25071396 maternal GeneReviews:NBK1274;Genetic Alliance:Mucopolysaccharidosis+type+II/4913;MedGen:C0026705;OMIM:309900;Orphanet:580;SNOMED CT:70737009 2007-05-16 0 0 -X 154534390 G A 154534390 154534390 - Haplotype 10392 RCV000011127 SCV000031354 25430 G6PD NM_000402.4:c.682C>T NP_000393.4:p.Arg228Cys NM_001042351.2:c.592C>T:missense variant other pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Apr 18, 2013 OMIM OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664;4125296 germline MedGen:C4016535 1992-08-01 0 0 +X 154534390 G A 154534390 154534390 - Haplotype 10392 RCV000011127 SCV000031354 25430 G6PD NM_000402.4:c.682C>T NP_000393.4:p.Arg228Cys NM_001042351.2:c.592C>T:missense variant other pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided May 24, 2017 OMIM OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664;4125296 germline MedGen:C4016535 1992-08-01 0 0 X 154534438 G A 154534438 154534438 - Haplotype 10392 RCV000011127 SCV000031354 38393 G6PD NM_000402.4:c.634C>T NP_000393.4:p.Arg212Trp NM_001042351.2:c.544C>T:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 01, 1992 OMIM OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664;4125296 germline MedGen:C4016535 1992-08-01 0 0 -X 154534440 T A 154534440 154534440 - Haplotype 10382 RCV000011109 SCV000031336 25421 G6PD NM_000402.4:c.632A>T NP_000393.4:p.Asp211Val NM_000402.4:c.632A>T:missense variant Pathogenic, other other 0 0 0 0 0 no assertion for the individual variant no assertion criteria provided May 24, 2017 OMIM OMIM G6PD SANTAMARIA;G6PD SANTAMARIA 1978554;1999409;6433630;8956035 germline OMIM:305900.0023 2017-05-24 0 0 -X 154535277 T C 154535277 154535277 - Haplotype 10361;10382 RCV000011075;RCV000011076;RCV000011077;RCV000011078;RCV000011079;RCV000011109 SCV000031301;SCV000031303;SCV000031304;SCV000031305;SCV000031306;SCV000031336 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant Conflicting interpretations of pathogenicity, other pathogenic;other 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Jun 14, 2017 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A-;G6PD BETICA;G6PD CASTILLA;G6PD DISTRITO FEDERAL;G6PD TEPIC;G6PD SANTAMARIA 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703;1999409;6433630;8956035 germline Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;Office of Rare Diseases:6520;OMIM:305900.0002;OMIM:305900.0023 2000-03-31;2017-05-24 0 1 +X 154534440 T A 154534440 154534440 - Haplotype 10382 RCV000011109 SCV000031336 25421 G6PD NM_000402.4:c.632A>T NP_000393.4:p.Asp211Val NM_000402.4:c.632A>T:missense variant Pathogenic, other other 0 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided May 24, 2017 OMIM OMIM G6PD SANTAMARIA;G6PD SANTAMARIA 1978554;1999409;6433630;8956035 germline OMIM:305900.0023 2017-05-24 2 0 +X 154535277 T C 154535277 154535277 - Haplotype 10361;10382 RCV000011075;RCV000011109 SCV000031301;SCV000031336 25399 G6PD NM_000402.4:c.466A>G NP_000393.4:p.Asn156Asp NM_001042351.2:c.376A>G:missense variant Conflicting interpretations of pathogenicity, other pathogenic;other 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Oct 18, 2017 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A-;G6PD SANTAMARIA 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703;1999409;6433630;8956035 germline Genetic Alliance:G6pd+a-/8448;Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;OMIM:305900.0002;OMIM:305900.0027;OMIM:305900.0028;Office of Rare Diseases:6520;OMIM:305900.0023 2000-03-31;2017-05-24 0 1 X 154535336 G C 154535336 154535336 - Haplotype 10392 RCV000011127 SCV000031354 25431 G6PD NM_000402.4:c.407C>G NP_000393.4:p.Ser136Cys NM_001042351.2:c.317C>G:missense variant - pathogenic 1 0 0 0 0 no assertion for the individual variant no assertion criteria provided Aug 01, 1992 OMIM OMIM Chronic granuloma and hemolytic anemia;CHRONIC GRANULOMA AND HEMOLYTIC ANEMIA 1353664;4125296 germline MedGen:C4016535 1992-08-01 0 0 -X 154536002 C T 154536002 154536002 - Haplotype 10361 RCV000011075;RCV000011076;RCV000011077;RCV000011078;RCV000011079 SCV000031301;SCV000031303;SCV000031304;SCV000031305;SCV000031306 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant drug response pathogenic;other 1 0 0 0 0 reviewed by expert panel no assertion criteria provided May 24, 2017 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A-;G6PD BETICA;G6PD CASTILLA;G6PD DISTRITO FEDERAL;G6PD TEPIC 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;Office of Rare Diseases:6520;OMIM:305900.0002 2000-03-31;2017-05-24 3 0 +X 154536002 C T 154536002 154536002 - Haplotype 10361 RCV000011075 SCV000031301 25400 G6PD NM_000402.4:c.292G>A NP_000393.4:p.Val98Met NM_001042351.2:c.202G>A:missense variant drug response pathogenic 1 0 0 0 0 reviewed by expert panel no assertion criteria provided Oct 18, 2017 OMIM OMIM Glucose 6 phosphate dehydrogenase deficiency;G6PD A- 10734064;1303173;1978554;2253938;2503817;2572288;2836867;2912886;3393536;4388132;5448;5492291;669721;7106752;7291768;903703 germline Genetic Alliance:G6pd+a-/8448;Genetic Alliance:Glucose+6+Phosphate+Dehydrogenase+Deficiency/3096;Genetics Home Reference:glucose-6-phosphate-dehydrogenase-deficiency;MedGen:C0017758;OMIM:305900.0002;OMIM:305900.0027;OMIM:305900.0028;Office of Rare Diseases:6520 2000-03-31 3 0 diff --git a/output/b38/multi/clinvar_alleles_stats.multi.b38.txt b/output/b38/multi/clinvar_alleles_stats.multi.b38.txt index 0ed198d..fea341a 100644 --- a/output/b38/multi/clinvar_alleles_stats.multi.b38.txt +++ b/output/b38/multi/clinvar_alleles_stats.multi.b38.txt @@ -1,105 +1,110 @@ Columns: 1: chrom, 2: pos, 3: ref, 4: alt, 5: start, 6: stop, 7: strand, 8: variation_type, 9: variation_id, 10: rcv, 11: scv, 12: allele_id, 13: symbol, 14: hgvs_c, 15: hgvs_p, 16: molecular_consequence, 17: clinical_significance, 18: clinical_significance_ordered, 19: pathogenic, 20: likely_pathogenic, 21: uncertain_significance, 22: likely_benign, 23: benign, 24: review_status, 25: review_status_ordered, 26: last_evaluated, 27: all_submitters, 28: submitters_ordered, 29: all_traits, 30: all_pmids, 31: inheritance_modes, 32: age_of_onset, 33: prevalence, 34: disease_mechanism, 35: origin, 36: xrefs, 37: dates_ordered, 38: gold_stars, 39: conflicted, ================ -Total rows: 484 +Total rows: 551 ================ column 8: variation_type -Haplotype 467 +Haplotype 532 Phase unknown 11 +Distinct chromosomes 4 CompoundHeterozygote 4 -Distinct chromosomes 2 Name: variation_type, dtype: int64 ================ column 17: clinical_significance -- 265 -Pathogenic 67 -Conflicting interpretations of pathogenicity 32 -Uncertain significance 24 -Benign 16 -Pathogenic/Likely pathogenic 13 +- 296 +Pathogenic 71 +Conflicting interpretations of pathogenicity 39 +Uncertain significance 32 +Benign 19 +Pathogenic/Likely pathogenic 18 +Benign/Likely benign 13 other 12 -Benign/Likely benign 9 not provided 8 +Likely benign 7 Likely pathogenic 6 Conflicting interpretations of pathogenicity, other 6 -Likely benign 6 -Pathogenic, other 4 -drug response 3 -drug response, other 2 +Pathogenic, other 5 +drug response 4 Likely benign, other 2 +drug response, other 2 Pathogenic, other, protective 2 +Pathogenic, risk factor 1 +risk factor 1 Benign/Likely benign, risk factor 1 Pathogenic, protective 1 Uncertain significance, other 1 Conflicting interpretations of pathogenicity, risk factor 1 +Benign, Affects 1 Benign/Likely benign, other 1 -Pathogenic, risk factor 1 Benign, other 1 Name: clinical_significance, dtype: int64 ================ column 24: review_status -no assertion for the individual variant 360 -criteria provided, multiple submitters, no conflicts 36 -no assertion criteria provided 33 -criteria provided, single submitter 27 -criteria provided, conflicting interpretations 19 +no assertion for the individual variant 407 +criteria provided, multiple submitters, no conflicts 45 +criteria provided, single submitter 33 +no assertion criteria provided 31 +criteria provided, conflicting interpretations 27 no assertion provided 4 -reviewed by expert panel 4 +reviewed by expert panel 3 practice guideline 1 Name: review_status, dtype: int64 ================ column 38: gold_stars -0 397 -1 46 -2 36 -3 4 +0 442 +1 60 +2 45 +3 3 4 1 Name: gold_stars, dtype: int64 ================ column 27: all_submitters -OMIM 258 -GeneReviews 29 -Mendelics Analise Genomica 20 -ARUP Institute,ARUP Laboratories 17 -Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 16 -University of Washington Center for Mendelian Genomics, University of Washington 13 -Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 12 -Colsan 9 -Medical Research Institute,Tokyo Medical and Dental University 7 -Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 7 -U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 6 -Section of Medical Genetics, Telemark Hospital 6 -Division of Host Defense,Kyushu University 6 -Clinical Biochemistry Laboratory,Health Services Laboratory 6 -Tuberous sclerosis database (TSC2) 5 -OMIM;GeneReviews 5 -HerediLab, Inc. 5 -Rizzo Lab,University of Nebraska Medical Center 4 -Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 -Center for Genetic Medicine Research,Children's National Medical Center 3 -OMIM;ARUP Institute,ARUP Laboratories 3 -OMIM;Baylor Miraca Genetics Laboratories 2 -Neurogenetics Research, Murdoch Childrens Research Institute 2 -Eye Genetics Research Group,Children's Medical Research Institute 2 -Bone Marrow Failure laboratory,Queen Mary University London 2 -LDLR-LOVD, British Heart Foundation 2 -RettBASE 2 -LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 2 -Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 2 -Laboratory of Molecular Genetics,National Institutes of Health 2 -Institute of Human Genetics, Klinikum rechts der Isar;OMIM 2 -OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 -Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 -OMIM;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 2 -OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 2 -Human Genetics Disease in Children – Taif University,Taif University 2 -Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 2 -Collagen Diagnostic Laboratory 2 -Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 -Institute of Human Genetics, Klinikum rechts der Isar 2 -Laboratory of Molecular Genetics,CHU RENNES 2 -CFTR2 1 -Medical Genomics Laboratory,Department of Genetics UAB 1 -GeneReviews;OMIM 1 +OMIM 316 +GeneReviews 28 +Mendelics Analise Genomica 20 +ARUP Institute,ARUP Laboratories 17 +Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 16 +University of Washington Center for Mendelian Genomics, University of Washington 13 +Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 12 +Colsan 9 +Medical Research Institute,Tokyo Medical and Dental University 7 +OMIM;GeneReviews 7 +Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 7 +Division of Host Defense,Kyushu University 6 +U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 6 +Section of Medical Genetics, Telemark Hospital 6 +Clinical Biochemistry Laboratory,Health Services Laboratory 6 +Tuberous sclerosis database (TSC2) 5 +HerediLab, Inc. 5 +Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 +Rizzo Lab,University of Nebraska Medical Center 4 +Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 4 +Center for Genetic Medicine Research,Children's National Medical Center 3 +OMIM;ARUP Institute,ARUP Laboratories 3 +Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 2 +Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;OMIM 2 +Bone Marrow Failure laboratory,Queen Mary University London 2 +LDLR-LOVD, British Heart Foundation 2 +RettBASE 2 +Institute of Human Genetics, Klinikum rechts der Isar 2 +OMIM;Baylor Miraca Genetics Laboratories 2 +Eye Genetics Research Group,Children's Medical Research Institute 2 +LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 2 +Neurogenetics Research, Murdoch Childrens Research Institute 2 +Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 2 +Laboratory of Molecular Genetics,National Institutes of Health 2 +Institute of Human Genetics, Klinikum rechts der Isar;OMIM 2 +OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 +Knight Diagnostic Laboratories,Oregon Health and Sciences University 2 +OMIM;U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 2 +Human Genetics Disease in Children – Taif University,Taif University 2 +Collagen Diagnostic Laboratory 2 +Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 2 +Counsyl 2 +Computational Biology Unit,University of Bari 2 +Laboratory of Molecular Genetics,CHU RENNES 2 +CFTR2 1 +Medical Genomics Laboratory,Department of Genetics UAB 1 +GeneReviews;OMIM 1 Name: all_submitters, dtype: int64 ================ column 31: inheritance_modes @@ -112,20 +117,23 @@ column 33: prevalence Series([], Name: prevalence, dtype: int64) ================ column 34: disease_mechanism -loss of function 36 +loss of function 35 +More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function 5 +gain of function 4 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function 2 Name: disease_mechanism, dtype: int64 ================ column 35: origin -germline 394 +germline 453 not provided 29 -inherited 17 -unknown 17 +unknown 21 +inherited 19 somatic 6 de novo 6 germline;not provided 5 tested-inconclusive 4 germline;maternal;paternal 2 +not applicable;paternal 2 not applicable 2 maternal 2 Name: origin, dtype: int64 diff --git a/output/b38/single/clinvar_allele_trait_pairs.single.b38.tsv.gz b/output/b38/single/clinvar_allele_trait_pairs.single.b38.tsv.gz index 86cae58..9162733 100755 Binary files a/output/b38/single/clinvar_allele_trait_pairs.single.b38.tsv.gz and b/output/b38/single/clinvar_allele_trait_pairs.single.b38.tsv.gz differ diff --git a/output/b38/single/clinvar_allele_trait_pairs.single.b38.tsv.gz.tbi b/output/b38/single/clinvar_allele_trait_pairs.single.b38.tsv.gz.tbi index 23257f6..22ea382 100755 Binary files a/output/b38/single/clinvar_allele_trait_pairs.single.b38.tsv.gz.tbi and b/output/b38/single/clinvar_allele_trait_pairs.single.b38.tsv.gz.tbi differ diff --git a/output/b38/single/clinvar_allele_trait_pairs_example_750_rows.single.b38.tsv b/output/b38/single/clinvar_allele_trait_pairs_example_750_rows.single.b38.tsv index 0dc63f0..c5853b8 100644 --- a/output/b38/single/clinvar_allele_trait_pairs_example_750_rows.single.b38.tsv +++ b/output/b38/single/clinvar_allele_trait_pairs_example_750_rows.single.b38.tsv @@ -1,166 +1,313 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_id symbol hgvs_c hgvs_p molecular_consequence clinical_significance clinical_significance_ordered pathogenic likely_pathogenic uncertain_significance likely_benign benign review_status review_status_ordered last_evaluated all_submitters submitters_ordered all_traits all_pmids inheritance_modes age_of_onset prevalence disease_mechanism origin xrefs dates_ordered +1 1014042 G A 1014042 1014042 + Variant 475283 RCV000537631 SCV000655463 446939 ISG15 NM_005101.3:c.62G>A NP_005092.1:p.Ser21Asn NM_005101.3:c.62G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-26 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-05-26 1 1014143 C T 1014143 1014143 + Variant 183381 RCV000162196 SCV000212156 181485 ISG15 NM_005101.3:c.163C>T NP_005092.1:p.Gln55Ter NM_005101.3:c.163C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-01 OMIM OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 25307056 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2015-01-01 +1 1014217 C T 1014217 1014217 + Variant 475278 RCV000544298 SCV000655458 446987 ISG15 NM_005101.3:c.237C>T NP_005092.1:p.Asp79= NM_005101.3:c.237C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-15 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-06-15 1 1014228 G A 1014228 1014228 + Variant 402986 RCV000455759 SCV000539397 389314 ISG15 NM_005101.3:c.248G>A NP_005092.1:p.Ser83Asn NM_005101.3:c.248G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-03-29 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified 24033266 germline MedGen:CN169374 2016-03-29 1 1014316 C CG 1014319 1014319 + Variant 161455 RCV000148989 SCV000196037 171289 ISG15 NM_005101.3:c.339dupG NP_005092.1:p.Leu114Alafs NM_005101.3:c.339dupG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-01 OMIM OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 1;22859821;25307056 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2015-01-01 1 1014359 G T 1014359 1014359 + Variant 161454 RCV000148988 SCV000196036 171288 ISG15 NM_005101.3:c.379G>T NP_005092.1:p.Glu127Ter NM_005101.3:c.379G>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-01-01 OMIM OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 22859821;25307056 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2015-01-01 +1 1014451 C T 1014451 1014451 + Variant 475281 RCV000543212 SCV000655461 446936 ISG15 NM_005101.3:c.471C>T NP_005092.1:p.Gly157= NM_005101.3:c.471C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-13 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-06-13 +1 1014471 G C 1014471 1014471 + Variant 475282 RCV000559328 SCV000655462 446981 ISG15 NM_005101.3:c.491G>C NP_005092.1:p.Arg164Pro NM_005101.3:c.491G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-08-04 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-08-04 +1 1020177 C A 1020177 1020177 + Variant 474165 RCV000550388 SCV000653986 446941 AGRN NM_198576.3:c.5C>A NP_940978.2:p.Ala2Asp NM_198576.3:c.5C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-22 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-22 1 1020183 G C 1020183 1020183 + Variant 387476 RCV000424799 SCV000529531 364282 AGRN NM_198576.3:c.11G>C NP_940978.2:p.Arg4Pro NM_198576.3:c.11G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-15 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 -1 1020216 C G 1020216 1020216 + Variant 377270 RCV000422793 SCV000511620 364148 AGRN NM_198576.3:c.44C>G NP_940978.2:p.Pro15Arg NM_198576.3:c.44C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-03 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-02-03-06:00 +1 1020183 G C 1020183 1020183 + Variant 387476 RCV000535257 SCV000653873 364282 AGRN NM_198576.3:c.11G>C NP_940978.2:p.Arg4Pro NM_198576.3:c.11G>C:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-28 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-28 +1 1020216 C G 1020216 1020216 + Variant 377270 RCV000422793 SCV000511620 364148 AGRN NM_198576.3:c.44C>G NP_940978.2:p.Pro15Arg NM_198576.3:c.44C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-03 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-02-03 1 1020217 G T 1020217 1020217 + Variant 128310 RCV000116272 SCV000150190;SCV000519170;SCV000317056 133759 AGRN NM_198576.3:c.45G>T NP_940978.2:p.Pro15= NM_198576.3:c.45G>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-02-04 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 2014-08-29;0000-00-00;2016-02-04 1 1020221 C T 1020221 1020221 + Variant 388958 RCV000437701 SCV000531361 364285 AGRN NM_198576.3:c.49C>T NP_940978.2:p.Leu17Phe NM_198576.3:c.49C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-09-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-07 1 1020239 G C 1020239 1020239 + Variant 210112 RCV000193277 SCV000317081;SCV000246342 206690 AGRN NM_198576.3:c.67G>C NP_940978.2:p.Val23Leu NM_198576.3:c.67G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2014-09-29 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-09-29;0000-00-00 +1 1020239 G C 1020239 1020239 + Variant 210112 RCV000527875 SCV000653990 206690 AGRN NM_198576.3:c.67G>C NP_940978.2:p.Val23Leu NM_198576.3:c.67G>C:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 1 1022188 A G 1022188 1022188 + Variant 263166 RCV000250556 SCV000317015 249265 AGRN NM_198576.3:c.202-13A>G NM_198576.3:c.202-13A>G:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1022225 G A 1022225 1022225 + Variant 243036 RCV000235037 SCV000292405 244110 AGRN NM_198576.3:c.226G>A NP_940978.2:p.Gly76Ser NM_198576.3:c.226G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347;24951643 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 1 1022260 C T 1022260 1022260 + Variant 128296 RCV000116258 SCV000317028;SCV000150176 133745 AGRN NM_198576.3:c.261C>T NP_940978.2:p.Asp87= NM_198576.3:c.261C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 1022260 C T 1022260 1022260 + Variant 128296 RCV000550396 SCV000653894 133745 AGRN NM_198576.3:c.261C>T NP_940978.2:p.Asp87= NM_198576.3:c.261C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 1 1022313 A T 1022313 1022313 + Variant 243037 RCV000235021 SCV000292406 244111 AGRN NM_198576.3:c.314A>T NP_940978.2:p.Asn105Ile NM_198576.3:c.314A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347;24951643 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 +1 1035307 C T 1035307 1035307 + Variant 474141 RCV000555748 SCV000653952 446942 AGRN NM_198576.3:c.494C>T NP_940978.2:p.Pro165Leu NM_198576.3:c.494C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-10-26 1 1040679 C T 1040679 1040679 + Variant 210111 RCV000195231 SCV000246341;SCV000317068 206691 AGRN NM_198576.3:c.526C>T NP_940978.2:p.Leu176= NM_198576.3:c.526C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2014-10-28 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-10-28;0000-00-00 +1 1040732 G A 1040732 1040732 + Variant 474159 RCV000536149 SCV000653979 447009 AGRN NM_198576.3:c.579G>A NP_940978.2:p.Ala193= NM_198576.3:c.579G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-03-24 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-24 +1 1040744 CAAG C 1040749 1040751 + Variant 474163 RCV000550064 SCV000653983 446960 AGRN NM_198576.3:c.596_598delAGA NP_940978.2:p.Lys199del Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-17 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-02-17 1 1041174 C G 1041174 1041174 + Variant 263202 RCV000241878 SCV000317082 249305 AGRN NM_198576.3:c.729C>G NP_940978.2:p.Gly243= NM_198576.3:c.729C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1041174 C G 1041174 1041174 + Variant 263202 RCV000540327 SCV000653991 249305 AGRN NM_198576.3:c.729C>G NP_940978.2:p.Gly243= NM_198576.3:c.729C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 1 1041183 C T 1041183 1041183 + Variant 263203 RCV000246662 SCV000317083 249306 AGRN NM_198576.3:c.738C>T NP_940978.2:p.Asp246= NM_198576.3:c.738C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1041183 C T 1041183 1041183 + Variant 263203 RCV000551940 SCV000653992 249306 AGRN NM_198576.3:c.738C>T NP_940978.2:p.Asp246= NM_198576.3:c.738C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-08-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-02 1 1041197 T C 1041197 1041197 + Variant 430121 RCV000492793 SCV000582847 421151 AGRN NM_198576.3:c.752T>C NP_940978.2:p.Val251Ala NM_198576.3:c.752T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-22 1 1041218 C T 1041218 1041218 + Variant 263204 RCV000249809 SCV000317084;SCV000593067 249307 AGRN NM_198576.3:c.773C>T NP_940978.2:p.Thr258Ile NM_198576.3:c.773C>T:missense variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2015-11-11 PreventionGenetics;Genetic Services Laboratory, University of Chicago PreventionGenetics;Genetic Services Laboratory, University of Chicago not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2015-11-11 -1 1041249 C T 1041249 1041249 + Variant 128320 RCV000116282 SCV000150200;SCV000526741 133769 AGRN NM_198576.3:c.804C>T NP_940978.2:p.Ala268= NM_198576.3:c.804C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-20 GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;GeneDx not specified;AllHighlyPenetrant;not specified 18414213 germline MedGen:CN169374 2013-08-15;2016-09-20 +1 1041218 C T 1041218 1041218 + Variant 263204 RCV000532513 SCV000653993 249307 AGRN NM_198576.3:c.773C>T NP_940978.2:p.Thr258Ile NM_198576.3:c.773C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 +1 1041249 C T 1041249 1041249 + Variant 128320 RCV000116282 SCV000150200;SCV000612304;SCV000526741 133769 AGRN NM_198576.3:c.804C>T NP_940978.2:p.Ala268= NM_198576.3:c.804C>T:synonymous variant Conflicting interpretations of pathogenicity benign;benign;likely benign 0 0 0 1 2 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-09-20 Athena Diagnostics Inc;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;GeneDx;Athena Diagnostics Inc not specified;AllHighlyPenetrant;not specified;not specified 18414213;26467025 germline MedGen:CN169374 2013-08-15;2016-09-20;2016-06-16 +1 1041249 C T 1041249 1041249 + Variant 128320 RCV000545263 SCV000653994 133769 AGRN NM_198576.3:c.804C>T NP_940978.2:p.Ala268= NM_198576.3:c.804C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-04 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-04 +1 1041274 C T 1041274 1041274 + Variant 474169 RCV000553169 SCV000653995 446994 AGRN NM_198576.3:c.829C>T NP_940978.2:p.Arg277Cys NM_198576.3:c.829C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-18 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-18 +1 1041579 C G 1041579 1041579 + Variant 474095 RCV000533556 SCV000653867 446995 AGRN NM_198576.3:c.1054C>G NP_940978.2:p.Arg352Gly NM_198576.3:c.1054C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-23 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-23 1 1041582 C T 1041582 1041582 + Variant 126556 RCV000114428 SCV000148370 132069 AGRN NM_198576.3:c.1057C>T NP_940978.2:p.Gln353Ter NM_198576.3:c.1057C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-07-01 OMIM OMIM Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8 20301347;22205389 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2012-07-01 1 1041582 C T 1041582 1041582 + Variant 126556 RCV000235030 SCV000292407 132069 AGRN NM_198576.3:c.1057C>T NP_940978.2:p.Gln353Ter NM_198576.3:c.1057C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 1 1041583 A G 1041583 1041583 + Variant 128291 RCV000116253 SCV000150171;SCV000529532 133740 AGRN NM_198576.3:c.1058A>G NP_940978.2:p.Gln353Arg NM_198576.3:c.1058A>G:missense variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 2016-11-10 GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;GeneDx not specified;AllHighlyPenetrant;not specified germline MedGen:CN169374 0000-00-00;2016-11-10 +1 1041583 A G 1041583 1041583 + Variant 128291 RCV000545898 SCV000653868 133740 AGRN NM_198576.3:c.1058A>G NP_940978.2:p.Gln353Arg NM_198576.3:c.1058A>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-08 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-08 1 1041648 G T 1041648 1041648 + Variant 263158 RCV000243499 SCV000334297;SCV000317005;SCV000593068 249308 AGRN NM_198576.3:c.1123G>T NP_940978.2:p.Ala375Ser NM_198576.3:c.1123G>T:missense variant Likely benign likely benign;likely benign;likely benign 0 0 0 3 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2017-02-02 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Genetic Services Laboratory, University of Chicago PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Genetic Services Laboratory, University of Chicago not specified;NOT SPECIFIED;not specified;not specified 25741868 germline MedGen:CN169374 0000-00-00;2015-09-14;2017-02-02 -1 1041648 G T 1041648 1041648 + Variant 263158 RCV000430046 SCV000511758 249308 AGRN NM_198576.3:c.1123G>T NP_940978.2:p.Ala375Ser NM_198576.3:c.1123G>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-30 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-12-30-06:00 +1 1041648 G T 1041648 1041648 + Variant 263158 RCV000430046 SCV000511758 249308 AGRN NM_198576.3:c.1123G>T NP_940978.2:p.Ala375Ser NM_198576.3:c.1123G>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-30 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2016-12-30 +1 1041648 G T 1041648 1041648 + Variant 263158 RCV000557729 SCV000653869 249308 AGRN NM_198576.3:c.1123G>T NP_940978.2:p.Ala375Ser NM_198576.3:c.1123G>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-08 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-08 +1 1041655 G A 1041655 1041655 + Variant 474096 RCV000533895 SCV000653870 447000 AGRN NM_198576.3:c.1130G>A NP_940978.2:p.Arg377Gln NM_198576.3:c.1130G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-05 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 +1 1041670 A G 1041670 1041670 + Variant 474097 RCV000546257 SCV000653871 447003 AGRN NM_198576.3:c.1145A>G NP_940978.2:p.Gln382Arg NM_198576.3:c.1145A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-24 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-24 1 1041950 T C 1041950 1041950 + Variant 128292 RCV000116254 SCV000150172;SCV000519171;SCV000317006 133741 AGRN NM_198576.3:c.1178-6T>C NM_198576.3:c.1178-6T>C:intron variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 +1 1041976 C T 1041976 1041976 + Variant 474098 RCV000558783 SCV000653872 447005 AGRN NM_198576.3:c.1198C>T NP_940978.2:p.Arg400Trp NM_198576.3:c.1198C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-11 1 1042136 T TC 1042140 1042140 + Variant 243038 RCV000235036 SCV000292408 244112 AGRN NM_198576.3:c.1362dupC NP_940978.2:p.Ser455GlnfsTer8 NM_198576.3:c.1362dupC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 1 1042190 G A 1042190 1042190 + Variant 263159 RCV000251375 SCV000317007 249309 AGRN NM_198576.3:c.1384+28G>A NM_198576.3:c.1384+28G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1043223 CCT C 1043224 1043225 + Variant 263160 RCV000244801 SCV000317008 249310 AGRN NM_198576.3:c.1385-15_1385-14delCT NM_198576.3:c.1385-15_1385-14delCT:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-01-27 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2016-01-27 1 1043248 C T 1043248 1043248 + Variant 263161 RCV000249555 SCV000317009 249311 AGRN NM_198576.3:c.1394C>T NP_940978.2:p.Pro465Leu NM_198576.3:c.1394C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1043249 G A 1043249 1043249 + Variant 474099 RCV000547860 SCV000653874 447016 AGRN NM_198576.3:c.1395G>A NP_940978.2:p.Pro465= NM_198576.3:c.1395G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-01 +1 1043255 A G 1043255 1043255 + Variant 474100 RCV000528299 SCV000653875 446944 AGRN NM_198576.3:c.1401A>G NP_940978.2:p.Pro467= NM_198576.3:c.1401A>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-06 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-06 1 1043288 G A 1043288 1043288 + Variant 263162 RCV000254334 SCV000317010 249312 AGRN NM_198576.3:c.1434G>A NP_940978.2:p.Thr478= NM_198576.3:c.1434G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 -1 1043382 G A 1043382 1043382 + Variant 263163 RCV000244472 SCV000519329;SCV000317011 249313 AGRN NM_198576.3:c.1528G>A NP_940978.2:p.Gly510Ser NM_198576.3:c.1528G>A:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-24 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-10-24 +1 1043288 G A 1043288 1043288 + Variant 263162 RCV000536310 SCV000653876 249312 AGRN NM_198576.3:c.1434G>A NP_940978.2:p.Thr478= NM_198576.3:c.1434G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-04 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-04 +1 1043382 G A 1043382 1043382 + Variant 263163 RCV000244472 SCV000612295;SCV000519329;SCV000317011 249313 AGRN NM_198576.3:c.1528G>A NP_940978.2:p.Gly510Ser NM_198576.3:c.1528G>A:missense variant Conflicting interpretations of pathogenicity benign;benign;likely benign 0 0 0 1 2 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-10-24 PreventionGenetics;GeneDx;Athena Diagnostics Inc PreventionGenetics;GeneDx;Athena Diagnostics Inc not specified;NOT SPECIFIED;not specified;not specified 25741868;26467025 germline MedGen:CN169374 0000-00-00;2016-10-24;2016-09-15 +1 1043382 G A 1043382 1043382 + Variant 263163 RCV000548068 SCV000653877 249313 AGRN NM_198576.3:c.1528G>A NP_940978.2:p.Gly510Ser NM_198576.3:c.1528G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 +1 1043393 C T 1043393 1043393 + Variant 474101 RCV000528770 SCV000653878 447008 AGRN NM_198576.3:c.1539C>T NP_940978.2:p.Cys513= NM_198576.3:c.1539C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-28 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-28 +1 1043424 C T 1043424 1043424 + Variant 446814 RCV000516394 SCV000612296 440337 AGRN NM_198576.3:c.1570C>T NP_940978.2:p.Arg524Trp NM_198576.3:c.1570C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-12 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2016-10-12 1 1043476 G A 1043476 1043476 + Variant 263164 RCV000249242 SCV000317012 249314 AGRN NM_198576.3:c.1603+19G>A NM_198576.3:c.1603+19G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1043594 G A 1043594 1043594 + Variant 263165 RCV000254010 SCV000317013 249315 AGRN NM_198576.3:c.1660G>A NP_940978.2:p.Val554Met NM_198576.3:c.1660G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1043594 G A 1043594 1043594 + Variant 263165 RCV000514542 SCV000609853 249315 AGRN NM_198576.3:c.1660G>A NP_940978.2:p.Val554Met NM_198576.3:c.1660G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-02-23 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-02-23 +1 1043594 G A 1043594 1043594 + Variant 263165 RCV000541064 SCV000653879 249315 AGRN NM_198576.3:c.1660G>A NP_940978.2:p.Val554Met NM_198576.3:c.1660G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-26 +1 1043655 A T 1043655 1043655 + Variant 474102 RCV000553694 SCV000653880 447013 AGRN NM_198576.3:c.1721A>T NP_940978.2:p.Tyr574Phe NM_198576.3:c.1721A>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-06 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-01-06 1 1043930 G A 1043930 1043930 + Variant 390111 RCV000443642 SCV000532853 364314 AGRN NM_198576.3:c.1906G>A NP_940978.2:p.Gly636Ser NM_198576.3:c.1906G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-20 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-20 -1 1044017 G A 1044017 1044017 + Variant 210106 RCV000192681 SCV000317014;SCV000246336 206692 AGRN NM_198576.3:c.1993G>A NP_940978.2:p.Glu665Lys NM_198576.3:c.1993G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2014-04-30 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 18414213;25741868 germline MedGen:CN169374 2014-04-30;0000-00-00 +1 1044017 G A 1044017 1044017 + Variant 210106 RCV000192681 SCV000317014;SCV000246336 206692 AGRN NM_198576.3:c.1993G>A NP_940978.2:p.Glu665Lys NM_198576.3:c.1993G>A:missense variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2017-02-13 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2017-02-13;0000-00-00 +1 1044017 G A 1044017 1044017 + Variant 210106 RCV000525581 SCV000653881 206692 AGRN NM_198576.3:c.1993G>A NP_940978.2:p.Glu665Lys NM_198576.3:c.1993G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-01 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-01 1 1044134 C G 1044134 1044134 + Variant 128293 RCV000116255 SCV000317016;SCV000150173 133742 AGRN NM_198576.3:c.2025C>G NP_940978.2:p.Gly675= NM_198576.3:c.2025C>G:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 1044134 C G 1044134 1044134 + Variant 128293 RCV000542722 SCV000653882 133742 AGRN NM_198576.3:c.2025C>G NP_940978.2:p.Gly675= NM_198576.3:c.2025C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-02 1 1044176 G A 1044176 1044176 + Variant 263167 RCV000245482 SCV000317017 249316 AGRN NM_198576.3:c.2067G>A NP_940978.2:p.Gln689= NM_198576.3:c.2067G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1044176 G A 1044176 1044176 + Variant 263167 RCV000555033 SCV000653883 249316 AGRN NM_198576.3:c.2067G>A NP_940978.2:p.Gln689= NM_198576.3:c.2067G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-19 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-19 +1 1044179 C T 1044179 1044179 + Variant 474103 RCV000531210 SCV000653884 447019 AGRN NM_198576.3:c.2070C>T NP_940978.2:p.Arg690= NM_198576.3:c.2070C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-26 1 1044368 A T 1044368 1044368 + Variant 128294 RCV000116256 SCV000519187;SCV000317018;SCV000150174 133743 AGRN NM_198576.3:c.2183A>T NP_940978.2:p.Glu728Val NM_198576.3:c.2183A>T:missense variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-05-26 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-05-26 +1 1044368 A T 1044368 1044368 + Variant 128294 RCV000542916 SCV000653885 133743 AGRN NM_198576.3:c.2183A>T NP_940978.2:p.Glu728Val NM_198576.3:c.2183A>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-28 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-28 1 1044455 G A 1044455 1044455 + Variant 263168 RCV000242021 SCV000317019 249317 AGRN NM_198576.3:c.2254+16G>A NM_198576.3:c.2254+16G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1045172 G A 1045172 1045172 + Variant 263169 RCV000245180 SCV000317020 249318 AGRN NM_198576.3:c.2266G>A NP_940978.2:p.Ala756Thr NM_198576.3:c.2266G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1045172 G A 1045172 1045172 + Variant 263169 RCV000555482 SCV000653886 249318 AGRN NM_198576.3:c.2266G>A NP_940978.2:p.Ala756Thr NM_198576.3:c.2266G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-01 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-12-01 1 1045177 G A 1045177 1045177 + Variant 263170 RCV000249944 SCV000317021 249319 AGRN NM_198576.3:c.2271G>A NP_940978.2:p.Pro757= NM_198576.3:c.2271G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1045289 A G 1045289 1045289 + Variant 387477 RCV000419115 SCV000529533 364327 AGRN NM_198576.3:c.2371+12A>G NM_198576.3:c.2371+12A>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-15 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 1 1045393 C T 1045393 1045393 + Variant 128295 RCV000116257 SCV000317022;SCV000150175 133744 AGRN NM_198576.3:c.2406C>T NP_940978.2:p.Gly802= NM_198576.3:c.2406C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 1045393 C T 1045393 1045393 + Variant 128295 RCV000531365 SCV000653887 133744 AGRN NM_198576.3:c.2406C>T NP_940978.2:p.Gly802= NM_198576.3:c.2406C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-02 +1 1045411 C T 1045411 1045411 + Variant 474104 RCV000543993 SCV000653888 447014 AGRN NM_198576.3:c.2424C>T NP_940978.2:p.Ala808= NM_198576.3:c.2424C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-10-26 1 1045444 G C 1045444 1045444 + Variant 190974 RCV000246474 SCV000317023;SCV000221340 188780 AGRN NM_198576.3:c.2457G>C NP_940978.2:p.Gly819= NM_198576.3:c.2457G>C:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-09-28 PreventionGenetics;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2016-09-28;0000-00-00 +1 1045444 G C 1045444 1045444 + Variant 190974 RCV000556816 SCV000653889 188780 AGRN NM_198576.3:c.2457G>C NP_940978.2:p.Gly819= NM_198576.3:c.2457G>C:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 1 1045460 C T 1045460 1045460 + Variant 210107 RCV000194095 SCV000246337 206693 AGRN NM_198576.3:c.2473C>T NP_940978.2:p.Arg825Cys NM_198576.3:c.2473C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-01-14 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-01-14 1 1045486 T C 1045486 1045486 + Variant 389918 RCV000443602 SCV000532604 364329 AGRN NM_198576.3:c.2499T>C NP_940978.2:p.Phe833= NM_198576.3:c.2499T>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-12 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-12 -1 1045488 G A 1045488 1045488 + Variant 387869 RCV000424274 SCV000530043 364336 AGRN NM_198576.3:c.2501G>A NP_940978.2:p.Arg834Gln NM_198576.3:c.2501G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-21 +1 1045488 G A 1045488 1045488 + Variant 387869 RCV000424274 SCV000530043 364336 AGRN NM_198576.3:c.2501G>A NP_940978.2:p.Arg834Gln NM_198576.3:c.2501G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-09 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-09 +1 1045488 G A 1045488 1045488 + Variant 387869 RCV000545330 SCV000653891 364336 AGRN NM_198576.3:c.2501G>A NP_940978.2:p.Arg834Gln NM_198576.3:c.2501G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-17 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-17 +1 1045495 C T 1045495 1045495 + Variant 474105 RCV000533002 SCV000653890 446970 AGRN NM_198576.3:c.2508C>T NP_940978.2:p.Ile836= NM_198576.3:c.2508C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-25 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-25 +1 1045501 C T 1045501 1045501 + Variant 474106 RCV000557874 SCV000653892 446945 AGRN NM_198576.3:c.2514C>T NP_940978.2:p.Thr838= NM_198576.3:c.2514C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-02 1 1045568 C T 1045568 1045568 + Variant 263171 RCV000252843 SCV000317024 249320 AGRN NM_198576.3:c.2536+45C>T NM_198576.3:c.2536+45C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1045707 A G 1045707 1045707 + Variant 263172 RCV000243014 SCV000317025 249321 AGRN NM_198576.3:c.2537-26A>G NM_198576.3:c.2537-26A>G:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1045751 A G 1045751 1045751 + Variant 263173 RCV000247794 SCV000317026 249322 AGRN NM_198576.3:c.2555A>G NP_940978.2:p.Gln852Arg NM_198576.3:c.2555A>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1045751 A G 1045751 1045751 + Variant 263173 RCV000537771 SCV000653893 249322 AGRN NM_198576.3:c.2555A>G NP_940978.2:p.Gln852Arg NM_198576.3:c.2555A>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 1 1045785 G A 1045785 1045785 + Variant 263174 RCV000252551 SCV000317027 249323 AGRN NM_198576.3:c.2589G>A NP_940978.2:p.Thr863= NM_198576.3:c.2589G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1045846 C T 1045846 1045846 + Variant 390809 RCV000425529 SCV000533733 364315 AGRN NM_198576.3:c.2650C>T NP_940978.2:p.Arg884Cys NM_198576.3:c.2650C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-18 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-18 +1 1045847 G A 1045847 1045847 + Variant 474107 RCV000558118 SCV000653895 447023 AGRN NM_198576.3:c.2651G>A NP_940978.2:p.Arg884His NM_198576.3:c.2651G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-26 1 1045948 C G 1045948 1045948 + Variant 263175 RCV000249068 SCV000317029 249324 AGRN NM_198576.3:c.2681-16C>G NM_198576.3:c.2681-16C>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1045965 C T 1045965 1045965 + Variant 263176 RCV000252248 SCV000317030 249325 AGRN NM_198576.3:c.2682C>T NP_940978.2:p.Asp894= NM_198576.3:c.2682C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 -1 1045973 C T 1045973 1045973 + Variant 235570 RCV000224244 SCV000281252 237251 AGRN NM_198576.3:c.2690C>T NP_940978.2:p.Ala897Val NM_198576.3:c.2690C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-21 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2015-12-21-06:00 +1 1045965 C T 1045965 1045965 + Variant 263176 RCV000534291 SCV000653896 249325 AGRN NM_198576.3:c.2682C>T NP_940978.2:p.Asp894= NM_198576.3:c.2682C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-25 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-25 +1 1045973 C T 1045973 1045973 + Variant 235570 RCV000224244 SCV000281252 237251 AGRN NM_198576.3:c.2690C>T NP_940978.2:p.Ala897Val NM_198576.3:c.2690C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-21 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2015-12-21 +1 1045973 C T 1045973 1045973 + Variant 235570 RCV000517312 SCV000612297 237251 AGRN NM_198576.3:c.2690C>T NP_940978.2:p.Ala897Val NM_198576.3:c.2690C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-24 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2017-03-24 +1 1045973 C T 1045973 1045973 + Variant 235570 RCV000551727 SCV000653897 237251 AGRN NM_198576.3:c.2690C>T NP_940978.2:p.Ala897Val NM_198576.3:c.2690C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-28 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-28 +1 1045996 C T 1045996 1045996 + Variant 474108 RCV000527891 SCV000653898 447015 AGRN NM_198576.3:c.2713C>T NP_940978.2:p.Arg905Cys NM_198576.3:c.2713C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-26 +1 1046020 G A 1046020 1046020 + Variant 474109 RCV000540198 SCV000653899 447029 AGRN NM_198576.3:c.2737G>A NP_940978.2:p.Val913Met NM_198576.3:c.2737G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-08 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-08 1 1046079 C T 1046079 1046079 + Variant 263177 RCV000244043 SCV000317031 249326 AGRN NM_198576.3:c.2796C>T NP_940978.2:p.Asn932= NM_198576.3:c.2796C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1046095 G A 1046095 1046095 + Variant 434107 RCV000500875 SCV000593069 427605 AGRN NM_198576.3:c.2805+7G>A NM_198576.3:c.2805+7G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-02 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-09-02 +1 1046095 G A 1046095 1046095 + Variant 434107 RCV000548272 SCV000653900 427605 AGRN NM_198576.3:c.2805+7G>A NM_198576.3:c.2805+7G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-11-23 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-23 +1 1046155 C T 1046155 1046155 + Variant 474110 RCV000528205 SCV000653901 447031 AGRN NM_198576.3:c.2806-5C>T NM_198576.3:c.2806-5C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-19 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-01-19 +1 1046472 C A 1046472 1046472 + Variant 474111 RCV000540503 SCV000653902 447017 AGRN NM_198576.3:c.2987C>A NP_940978.2:p.Ala996Glu NM_198576.3:c.2987C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-31 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-31 1 1046488 C T 1046488 1046488 + Variant 263178 RCV000248800 SCV000317032 249327 AGRN NM_198576.3:c.3003C>T NP_940978.2:p.Pro1001= NM_198576.3:c.3003C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1046524 C T 1046524 1046524 + Variant 474112 RCV000553127 SCV000653903 446946 AGRN NM_198576.3:c.3039C>T NP_940978.2:p.His1013= NM_198576.3:c.3039C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-04-28 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-28 +1 1046531 A G 1046531 1046531 + Variant 474113 RCV000529551 SCV000653904 447026 AGRN NM_198576.3:c.3046A>G NP_940978.2:p.Thr1016Ala NM_198576.3:c.3046A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-06 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-06 1 1046551 A G 1046551 1046551 + Variant 128297 RCV000116259 SCV000519172;SCV000317033;SCV000150177 133746 AGRN NM_198576.3:c.3066A>G NP_940978.2:p.Ser1022= NM_198576.3:c.3066A>G:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 1 1046562 C A 1046562 1046562 + Variant 263179 RCV000245361 SCV000317034 249328 AGRN NM_198576.3:c.3077C>A NP_940978.2:p.Thr1026Asn NM_198576.3:c.3077C>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1046562 C A 1046562 1046562 + Variant 263179 RCV000514069 SCV000609941 249328 AGRN NM_198576.3:c.3077C>A NP_940978.2:p.Thr1026Asn NM_198576.3:c.3077C>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-02-23 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-02-23 +1 1046562 C A 1046562 1046562 + Variant 263179 RCV000542147 SCV000653905 249328 AGRN NM_198576.3:c.3077C>A NP_940978.2:p.Thr1026Asn NM_198576.3:c.3077C>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-26 +1 1046638 C T 1046638 1046638 + Variant 474114 RCV000554460 SCV000653906 447034 AGRN NM_198576.3:c.3153C>T NP_940978.2:p.Ser1051= NM_198576.3:c.3153C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-19 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-19 1 1046824 C T 1046824 1046824 + Variant 387478 RCV000429389 SCV000529534 364294 AGRN NM_198576.3:c.3255C>T NP_940978.2:p.Leu1085= NM_198576.3:c.3255C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-15 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 -1 1046833 G C 1046833 1046833 + Variant 128298 RCV000116260 SCV000150178;SCV000317035 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 -1 1046833 G C 1046833 1046833 + Variant 128298 RCV000431747 SCV000511644 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-02 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-01-02-06:00 +1 1046833 G C 1046833 1046833 + Variant 128298 RCV000116260 SCV000150178;SCV000612298;SCV000317035 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Conflicting interpretations of pathogenicity likely benign;benign;benign 0 0 0 1 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2016-11-07 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 19631309;25741868;26467025 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-11-07 +1 1046833 G C 1046833 1046833 + Variant 128298 RCV000431747 SCV000511644 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-02 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-01-02 +1 1046833 G C 1046833 1046833 + Variant 128298 RCV000530637 SCV000653907 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-02 +1 1046845 C T 1046845 1046845 + Variant 474115 RCV000546931 SCV000653908 447043 AGRN NM_198576.3:c.3276C>T NP_940978.2:p.Ser1092= NM_198576.3:c.3276C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-03 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-03 1 1046854 C G 1046854 1046854 + Variant 434108 RCV000502690 SCV000593070 427606 AGRN NM_198576.3:c.3285C>G NP_940978.2:p.Thr1095= NM_198576.3:c.3285C>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-04-11 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-04-11 +1 1046922 C A 1046922 1046922 + Variant 474116 RCV000559489 SCV000653909 446971 AGRN NM_198576.3:c.3353C>A NP_940978.2:p.Thr1118Lys NM_198576.3:c.3353C>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-19 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-19 +1 1046956 C T 1046956 1046956 + Variant 474117 RCV000530806 SCV000653910 446948 AGRN NM_198576.3:c.3387C>T NP_940978.2:p.Pro1129= NM_198576.3:c.3387C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-06 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-06 1 1046976 G A 1046976 1046976 + Variant 263180 RCV000253262 SCV000317036 249329 AGRN NM_198576.3:c.3388+19G>A NM_198576.3:c.3388+19G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1047342 A G 1047342 1047342 + Variant 128299 RCV000116261 SCV000150179;SCV000317037 133748 AGRN NM_198576.3:c.3404A>G NP_940978.2:p.Gln1135Arg NM_198576.3:c.3404A>G:missense variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 -1 1047403 T C 1047403 1047403 + Variant 128300 RCV000116262 SCV000317038;SCV000150180 133749 AGRN NM_198576.3:c.3465T>C NP_940978.2:p.Ala1155= NM_198576.3:c.3465T>C:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 1047342 A G 1047342 1047342 + Variant 128299 RCV000543419 SCV000653911 133748 AGRN NM_198576.3:c.3404A>G NP_940978.2:p.Gln1135Arg NM_198576.3:c.3404A>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 +1 1047394 C T 1047394 1047394 + Variant 474118 RCV000560784 SCV000653912 446952 AGRN NM_198576.3:c.3456C>T NP_940978.2:p.Pro1152= NM_198576.3:c.3456C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-17 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-17 +1 1047403 T C 1047403 1047403 + Variant 128300 RCV000116262 SCV000317038;SCV000150180;SCV000612299 133749 AGRN NM_198576.3:c.3465T>C NP_940978.2:p.Ala1155= NM_198576.3:c.3465T>C:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign;benign 0 0 0 1 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2016-11-07 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868;26467025 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-11-07 +1 1047403 T C 1047403 1047403 + Variant 128300 RCV000536981 SCV000653913 133749 AGRN NM_198576.3:c.3465T>C NP_940978.2:p.Ala1155= NM_198576.3:c.3465T>C:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-26 1 1047464 G C 1047464 1047464 + Variant 128301 RCV000116263 SCV000519306;SCV000317039;SCV000150181;SCV000221341 133750 AGRN NM_198576.3:c.3516+10G>C NM_198576.3:c.3516+10G>C:intron variant Conflicting interpretations of pathogenicity likely benign;likely benign;benign;benign 0 0 0 2 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-09-28 GeneDx;PreventionGenetics;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-09-28;0000-00-00;2016-02-04 1 1047561 T C 1047561 1047561 + Variant 263181 RCV000246305 SCV000519173;SCV000317040 249331 AGRN NM_198576.3:c.3517-12T>C NM_198576.3:c.3517-12T>C:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-01-19 +1 1047599 C T 1047599 1047599 + Variant 474119 RCV000549332 SCV000653914 447038 AGRN NM_198576.3:c.3543C>T NP_940978.2:p.Asp1181= NM_198576.3:c.3543C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-13 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-13 1 1047614 T C 1047614 1047614 + Variant 128302 RCV000116264 SCV000150182;SCV000317041;SCV000519174 133751 AGRN NM_198576.3:c.3558T>C NP_940978.2:p.Phe1186= NM_198576.3:c.3558T>C:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 1 1047626 C T 1047626 1047626 + Variant 128303 RCV000116265 SCV000150183;SCV000317042 133752 AGRN NM_198576.3:c.3570C>T NP_940978.2:p.Arg1190= NM_198576.3:c.3570C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 1047626 C T 1047626 1047626 + Variant 128303 RCV000557303 SCV000653915 133752 AGRN NM_198576.3:c.3570C>T NP_940978.2:p.Arg1190= NM_198576.3:c.3570C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-30 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-30 +1 1047631 G A 1047631 1047631 + Variant 474121 RCV000549876 SCV000653917 447046 AGRN NM_198576.3:c.3575G>A NP_940978.2:p.Arg1192Gln NM_198576.3:c.3575G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-11 +1 1047814 C T 1047814 1047814 + Variant 474122 RCV000525731 SCV000653918 447042 AGRN NM_198576.3:c.3670C>T NP_940978.2:p.Leu1224Phe NM_198576.3:c.3670C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-05 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 +1 1047838 C A 1047838 1047838 + Variant 474123 RCV000538314 SCV000653919 447048 AGRN NM_198576.3:c.3694C>A NP_940978.2:p.Arg1232Ser NM_198576.3:c.3694C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-26 1 1047841 C T 1047841 1047841 + Variant 390183 RCV000438400 SCV000532953 364341 AGRN NM_198576.3:c.3697C>T NP_940978.2:p.Arg1233Trp NM_198576.3:c.3697C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-27 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-27 +1 1047841 C T 1047841 1047841 + Variant 390183 RCV000551217 SCV000653920 364341 AGRN NM_198576.3:c.3697C>T NP_940978.2:p.Arg1233Trp NM_198576.3:c.3697C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-26 +1 1047842 G A 1047842 1047842 + Variant 474124 RCV000527356 SCV000653921 447054 AGRN NM_198576.3:c.3698G>A NP_940978.2:p.Arg1233Gln NM_198576.3:c.3698G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-26 1 1047863 C T 1047863 1047863 + Variant 263182 RCV000247622 SCV000317043 249332 AGRN NM_198576.3:c.3719C>T NP_940978.2:p.Pro1240Leu NM_198576.3:c.3719C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1047863 C T 1047863 1047863 + Variant 263182 RCV000539671 SCV000653922 249332 AGRN NM_198576.3:c.3719C>T NP_940978.2:p.Pro1240Leu NM_198576.3:c.3719C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-11 1 1047876 C T 1047876 1047876 + Variant 210108 RCV000195120 SCV000317044;SCV000246338 206694 AGRN NM_198576.3:c.3732C>T NP_940978.2:p.His1244= NM_198576.3:c.3732C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2014-08-06 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-08-06;0000-00-00 1 1048006 C T 1048006 1048006 + Variant 210109 RCV000192787 SCV000246339 206695 AGRN NM_198576.3:c.3752-6C>T NM_198576.3:c.3752-6C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-06-12 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-06-12 +1 1048033 C T 1048033 1048033 + Variant 474125 RCV000552295 SCV000653923 446955 AGRN NM_198576.3:c.3773C>T NP_940978.2:p.Thr1258Met NM_198576.3:c.3773C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-30 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-30 +1 1048043 G A 1048043 1048043 + Variant 474126 RCV000532144 SCV000653924 446956 AGRN NM_198576.3:c.3783G>A NP_940978.2:p.Thr1261= NM_198576.3:c.3783G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-16 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-16 1 1048079 C T 1048079 1048079 + Variant 390522 RCV000426153 SCV000533375 364331 AGRN NM_198576.3:c.3819C>T NP_940978.2:p.Ala1273= NM_198576.3:c.3819C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-10 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-10 1 1048116 C A 1048116 1048116 + Variant 434109 RCV000504469 SCV000593071 427607 AGRN NM_198576.3:c.3856C>A NP_940978.2:p.Pro1286Thr NM_198576.3:c.3856C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-02 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2017-02-02 -1 1048126 C T 1048126 1048126 + Variant 128304 RCV000116266 SCV000317045;SCV000150184 133753 AGRN NM_198576.3:c.3866C>T NP_940978.2:p.Pro1289Leu NM_198576.3:c.3866C>T:missense variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 1048119 C T 1048119 1048119 + Variant 474127 RCV000540137 SCV000653925 447050 AGRN NM_198576.3:c.3859C>T NP_940978.2:p.Arg1287Trp NM_198576.3:c.3859C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-17 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-17 +1 1048126 C T 1048126 1048126 + Variant 128304 RCV000116266 SCV000317045;SCV000612300;SCV000150184 133753 AGRN NM_198576.3:c.3866C>T NP_940978.2:p.Pro1289Leu NM_198576.3:c.3866C>T:missense variant Conflicting interpretations of pathogenicity likely benign;benign;likely benign 0 0 0 2 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2016-11-07 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868;26467025 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-11-07 +1 1048126 C T 1048126 1048126 + Variant 128304 RCV000552486 SCV000653926 133753 AGRN NM_198576.3:c.3866C>T NP_940978.2:p.Pro1289Leu NM_198576.3:c.3866C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-26 +1 1048127 G A 1048127 1048127 + Variant 474120 RCV000537189 SCV000653916 446973 AGRN NM_198576.3:c.3867G>A NP_940978.2:p.Pro1289= NM_198576.3:c.3867G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-17 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-17 +1 1048186 G A 1048186 1048186 + Variant 474128 RCV000533178 SCV000653927 447069 AGRN NM_198576.3:c.3926G>A NP_940978.2:p.Arg1309Gln NM_198576.3:c.3926G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-03 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-03 1 1048224 C T 1048224 1048224 + Variant 128305 RCV000116267 SCV000317046;SCV000150185 133754 AGRN NM_198576.3:c.3964C>T NP_940978.2:p.Arg1322Trp NM_198576.3:c.3964C>T:missense variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 1048224 C T 1048224 1048224 + Variant 128305 RCV000546079 SCV000653928 133754 AGRN NM_198576.3:c.3964C>T NP_940978.2:p.Arg1322Trp NM_198576.3:c.3964C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-22 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 1 1048232 G A 1048232 1048232 + Variant 128306 RCV000116268 SCV000317047;SCV000150186 133755 AGRN NM_198576.3:c.3972G>A NP_940978.2:p.Pro1324= NM_198576.3:c.3972G>A:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 1048232 G A 1048232 1048232 + Variant 128306 RCV000554114 SCV000653929 133755 AGRN NM_198576.3:c.3972G>A NP_940978.2:p.Pro1324= NM_198576.3:c.3972G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-22 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 1 1048877 C T 1048877 1048877 + Variant 210110 RCV000193826 SCV000246340 206696 AGRN NM_198576.3:c.4116C>T NP_940978.2:p.Ala1372= NM_198576.3:c.4116C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-05-04 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-05-04 1 1048881 G T 1048881 1048881 + Variant 389927 RCV000438345 SCV000532615 364318 AGRN NM_198576.3:c.4120G>T NP_940978.2:p.Val1374Leu NM_198576.3:c.4120G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-13 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-13 1 1048892 C T 1048892 1048892 + Variant 392687 RCV000445318 SCV000535996 364322 AGRN NM_198576.3:c.4131C>T NP_940978.2:p.Phe1377= NM_198576.3:c.4131C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-10 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-10 +1 1048892 C T 1048892 1048892 + Variant 392687 RCV000529978 SCV000653930 364322 AGRN NM_198576.3:c.4131C>T NP_940978.2:p.Phe1377= NM_198576.3:c.4131C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-27 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-27 1 1048922 T C 1048922 1048922 + Variant 128307 RCV000116269 SCV000519276;SCV000150187;SCV000317048 133756 AGRN NM_198576.3:c.4161T>C NP_940978.2:p.Thr1387= NM_198576.3:c.4161T>C:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 -1 1049046 C T 1049046 1049046 + Variant 263183 RCV000248636 SCV000317049 249333 AGRN NM_198576.3:c.4285C>T NP_940978.2:p.Arg1429Cys NM_198576.3:c.4285C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1048944 C T 1048944 1048944 + Variant 474129 RCV000547145 SCV000653931 447070 AGRN NM_198576.3:c.4183C>T NP_940978.2:p.Arg1395Cys NM_198576.3:c.4183C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-14 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-02-14 +1 1049033 G A 1049033 1049033 + Variant 474130 RCV000558841 SCV000653932 446962 AGRN NM_198576.3:c.4272G>A NP_940978.2:p.Ala1424= NM_198576.3:c.4272G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-11 +1 1049046 C T 1049046 1049046 + Variant 263183 RCV000248636 SCV000317049;SCV000612301 249333 AGRN NM_198576.3:c.4285C>T NP_940978.2:p.Arg1429Cys NM_198576.3:c.4285C>T:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2017-07-25 PreventionGenetics;Athena Diagnostics Inc PreventionGenetics;Athena Diagnostics Inc not specified;NOT SPECIFIED;not specified 25741868;26467025 germline MedGen:CN169374 0000-00-00;2017-07-25 +1 1049046 C T 1049046 1049046 + Variant 263183 RCV000534784 SCV000653933 249333 AGRN NM_198576.3:c.4285C>T NP_940978.2:p.Arg1429Cys NM_198576.3:c.4285C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-04-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-26 +1 1049065 C T 1049065 1049065 + Variant 474131 RCV000542837 SCV000653934 447053 AGRN NM_198576.3:c.4298+6C>T NM_198576.3:c.4298+6C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-22 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 1 1049070 A T 1049070 1049070 + Variant 263184 RCV000251783 SCV000317050 249334 AGRN NM_198576.3:c.4298+11A>T NM_198576.3:c.4298+11A>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1049076 C T 1049076 1049076 + Variant 387479 RCV000440496 SCV000529535 364323 AGRN NM_198576.3:c.4298+17C>T NM_198576.3:c.4298+17C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-26 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-26 +1 1049257 G A 1049257 1049257 + Variant 474132 RCV000560225 SCV000653935 446965 AGRN NM_198576.3:c.4320G>A NP_940978.2:p.Pro1440= NM_198576.3:c.4320G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-12 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-12 +1 1049260 G A 1049260 1049260 + Variant 487335 RCV000576290 SCV000677101 446975 AGRN NM_198576.3:c.4323G>A NP_940978.2:p.Ala1441= NM_198576.3:c.4323G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-25 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-25 1 1049289 C T 1049289 1049289 + Variant 263185 RCV000243502 SCV000317051;SCV000593072 249335 AGRN NM_198576.3:c.4352C>T NP_940978.2:p.Pro1451Leu NM_198576.3:c.4352C>T:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-12-23 PreventionGenetics;Genetic Services Laboratory, University of Chicago PreventionGenetics;Genetic Services Laboratory, University of Chicago not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-12-23 +1 1049289 C T 1049289 1049289 + Variant 263185 RCV000533961 SCV000653936 249335 AGRN NM_198576.3:c.4352C>T NP_940978.2:p.Pro1451Leu NM_198576.3:c.4352C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-28 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-28 +1 1049316 C A 1049316 1049316 + Variant 474133 RCV000546585 SCV000653937 447074 AGRN NM_198576.3:c.4379C>A NP_940978.2:p.Ser1460Tyr NM_198576.3:c.4379C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-22 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 1 1049389 C T 1049389 1049389 + Variant 128308 RCV000116270 SCV000317052;SCV000150188 133757 AGRN NM_198576.3:c.4452C>T NP_940978.2:p.Thr1484= NM_198576.3:c.4452C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 1049389 C T 1049389 1049389 + Variant 128308 RCV000558276 SCV000653938 133757 AGRN NM_198576.3:c.4452C>T NP_940978.2:p.Thr1484= NM_198576.3:c.4452C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-11-23 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-23 +1 1049407 C T 1049407 1049407 + Variant 474134 RCV000534207 SCV000653939 447077 AGRN NM_198576.3:c.4470C>T NP_940978.2:p.Asp1490= NM_198576.3:c.4470C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-08 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-08 1 1049467 G C 1049467 1049467 + Variant 263186 RCV000253016 SCV000317053;SCV000526742 249336 AGRN NM_198576.3:c.4514+16G>C NM_198576.3:c.4514+16G>C:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-20 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-09-20 1 1049569 G A 1049569 1049569 + Variant 263187 RCV000244907 SCV000317054 249337 AGRN NM_198576.3:c.4518G>A NP_940978.2:p.Ala1506= NM_198576.3:c.4518G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1049591 G A 1049591 1049591 + Variant 128309 RCV000116271 SCV000150189;SCV000317055 133758 AGRN NM_198576.3:c.4540G>A NP_940978.2:p.Ala1514Thr NM_198576.3:c.4540G>A:missense variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 -1 1049690 G A 1049690 1049690 + Variant 252808 RCV000238604 SCV000297407;SCV000593075;SCV000564550 246856 AGRN NM_198576.3:c.4639G>A NP_940978.2:p.Glu1547Lys NM_198576.3:c.4639G>A:missense variant Uncertain significance uncertain significance;uncertain significance;uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2017-01-23 Genetic Services Laboratory, University of Chicago;GeneDx;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;GeneDx;Genetic Services Laboratory, University of Chicago not specified;not specified;not specified;not specified 25741868 germline;unknown MedGen:CN169374 2015-09-18;2017-01-23;2015-09-21 +1 1049591 G A 1049591 1049591 + Variant 128309 RCV000514020 SCV000610743 133758 AGRN NM_198576.3:c.4540G>A NP_940978.2:p.Ala1514Thr NM_198576.3:c.4540G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-05 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-07-05 +1 1049591 G A 1049591 1049591 + Variant 128309 RCV000551508 SCV000653940 133758 AGRN NM_198576.3:c.4540G>A NP_940978.2:p.Ala1514Thr NM_198576.3:c.4540G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-25 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-25 +1 1049663 G T 1049663 1049663 + Variant 474135 RCV000527524 SCV000653941 447078 AGRN NM_198576.3:c.4612G>T NP_940978.2:p.Ala1538Ser NM_198576.3:c.4612G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-18 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-18 +1 1049673 G A 1049673 1049673 + Variant 474136 RCV000535699 SCV000653942 446978 AGRN NM_198576.3:c.4622G>A NP_940978.2:p.Arg1541Gln NM_198576.3:c.4622G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-27 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-27 +1 1049690 G A 1049690 1049690 + Variant 252808 RCV000238604 SCV000297407;SCV000593075;SCV000564550 246856 AGRN NM_198576.3:c.4639G>A NP_940978.2:p.Glu1547Lys NM_198576.3:c.4639G>A:missense variant Uncertain significance uncertain significance;uncertain significance;uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2017-09-25 Genetic Services Laboratory, University of Chicago;GeneDx;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;GeneDx;Genetic Services Laboratory, University of Chicago not specified;not specified;not specified;not specified 25741868 germline;unknown MedGen:CN169374 2015-09-18;2017-09-25;2015-09-21 +1 1049690 G A 1049690 1049690 + Variant 252808 RCV000548184 SCV000653943 246856 AGRN NM_198576.3:c.4639G>A NP_940978.2:p.Glu1547Lys NM_198576.3:c.4639G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-29 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-29 +1 1049702 C T 1049702 1049702 + Variant 474137 RCV000529000 SCV000653944 446997 AGRN NM_198576.3:c.4651C>T NP_940978.2:p.His1551Tyr NM_198576.3:c.4651C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-05 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-12-05 1 1049746 G C 1049746 1049746 + Variant 387480 RCV000419307 SCV000529536 364295 AGRN NM_198576.3:c.4695G>C NP_940978.2:p.Gln1565His NM_198576.3:c.4695G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-15 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 +1 1049746 G C 1049746 1049746 + Variant 387480 RCV000541465 SCV000653945 364295 AGRN NM_198576.3:c.4695G>C NP_940978.2:p.Gln1565His NM_198576.3:c.4695G>C:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-05 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 1 1049782 G A 1049782 1049782 + Variant 434110 RCV000502846 SCV000593073 427608 AGRN NM_198576.3:c.4731G>A NP_940978.2:p.Pro1577= NM_198576.3:c.4731G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-08-01 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-08-01 -1 1049791 C T 1049791 1049791 + Variant 128311 RCV000116273 SCV000150191;SCV000317057 133760 AGRN NM_198576.3:c.4740C>T NP_940978.2:p.Arg1580= NM_198576.3:c.4740C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 1049791 C T 1049791 1049791 + Variant 128311 RCV000116273 SCV000150191;SCV000612302;SCV000317057 133760 AGRN NM_198576.3:c.4740C>T NP_940978.2:p.Arg1580= NM_198576.3:c.4740C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign;benign 0 0 0 1 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2017-07-24 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868;26467025 germline MedGen:CN169374 0000-00-00;0000-00-00;2017-07-24 +1 1049791 C T 1049791 1049791 + Variant 128311 RCV000553091 SCV000653946 133760 AGRN NM_198576.3:c.4740C>T NP_940978.2:p.Arg1580= NM_198576.3:c.4740C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-02 1 1049886 C T 1049886 1049886 + Variant 263188 RCV000250964 SCV000519277;SCV000317058 249338 AGRN NM_198576.3:c.4745-17C>T NM_198576.3:c.4745-17C>T:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-01-19 1 1049927 GCCCCTGCCAGCCCAA G 1049937 1049951 + Variant 291137 RCV000296346 SCV000345838 275374 AGRN NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA NP_940978.2:p.Gln1593_Cys1597del NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-09-06 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-06 +1 1049979 C T 1049979 1049979 + Variant 474138 RCV000524551 SCV000653947 447081 AGRN NM_198576.3:c.4821C>T NP_940978.2:p.Pro1607= NM_198576.3:c.4821C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-11-30 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-30 1 1049997 C T 1049997 1049997 + Variant 263189 RCV000254107 SCV000317059 249339 AGRN NM_198576.3:c.4839C>T NP_940978.2:p.Cys1613= NM_198576.3:c.4839C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1049997 C T 1049997 1049997 + Variant 263189 RCV000541799 SCV000653948 249339 AGRN NM_198576.3:c.4839C>T NP_940978.2:p.Cys1613= NM_198576.3:c.4839C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-13 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-13 +1 1049998 G A 1049998 1049998 + Variant 474139 RCV000554546 SCV000653949 446967 AGRN NM_198576.3:c.4840G>A NP_940978.2:p.Glu1614Lys NM_198576.3:c.4840G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-16 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-16 1 1050027 C A 1050027 1050027 + Variant 282708 RCV000405008 SCV000334296 266945 AGRN NM_198576.3:c.4869C>A NP_940978.2:p.Phe1623Leu NM_198576.3:c.4869C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-08-14 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-08-14 +1 1050027 C A 1050027 1050027 + Variant 282708 RCV000530565 SCV000653950 266945 AGRN NM_198576.3:c.4869C>A NP_940978.2:p.Phe1623Leu NM_198576.3:c.4869C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-02 1 1050054 T A 1050054 1050054 + Variant 263190 RCV000245933 SCV000317060 249340 AGRN NM_198576.3:c.4879+17T>A NM_198576.3:c.4879+17T>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1050066 G T 1050066 1050066 + Variant 263191 RCV000250684 SCV000317061 249341 AGRN NM_198576.3:c.4879+29G>T NM_198576.3:c.4879+29G>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1050069 G A 1050069 1050069 + Variant 263192 RCV000242423 SCV000317062 249342 AGRN NM_198576.3:c.4879+32G>A NM_198576.3:c.4879+32G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1050246 C T 1050246 1050246 + Variant 474140 RCV000538720 SCV000653951 447087 AGRN NM_198576.3:c.4893C>T NP_940978.2:p.Asp1631= NM_198576.3:c.4893C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-17 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-17 +1 1050320 G A 1050320 1050320 + Variant 451650 RCV000520546 SCV000620373 442574 AGRN NM_198576.3:c.4967G>A NP_940978.2:p.Arg1656Gln NM_198576.3:c.4967G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-24 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-24 1 1050417 A G 1050417 1050417 + Variant 263193 RCV000247197 SCV000519188;SCV000317063 249343 AGRN NM_198576.3:c.4977-10A>G NM_198576.3:c.4977-10A>G:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-06-21 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-06-21 +1 1050417 A G 1050417 1050417 + Variant 263193 RCV000530930 SCV000653953 249343 AGRN NM_198576.3:c.4977-10A>G NM_198576.3:c.4977-10A>G:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-28 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-28 1 1050446 G A 1050446 1050446 + Variant 128312 RCV000116274 SCV000150192;SCV000317064;SCV000519308 133761 AGRN NM_198576.3:c.4996G>A NP_940978.2:p.Val1666Ile NM_198576.3:c.4996G>A:missense variant Conflicting interpretations of pathogenicity likely benign;benign;benign 0 0 0 1 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2016-07-15 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-07-15 +1 1050446 G A 1050446 1050446 + Variant 128312 RCV000543394 SCV000653954 133761 AGRN NM_198576.3:c.4996G>A NP_940978.2:p.Val1666Ile NM_198576.3:c.4996G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-09 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-09 1 1050473 G A 1050473 1050473 + Variant 243039 RCV000235025 SCV000292409 244113 AGRN NM_198576.3:c.5023G>A NP_940978.2:p.Gly1675Ser NM_198576.3:c.5023G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 1 1050475 C T 1050475 1050475 + Variant 263194 RCV000242085 SCV000532854;SCV000317065 249344 AGRN NM_198576.3:c.5025C>T NP_940978.2:p.Gly1675= NM_198576.3:c.5025C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-11-11 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-11-11 +1 1050475 C T 1050475 1050475 + Variant 263194 RCV000560640 SCV000653955 249344 AGRN NM_198576.3:c.5025C>T NP_940978.2:p.Gly1675= NM_198576.3:c.5025C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-14 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-14 +1 1050490 C T 1050490 1050490 + Variant 474142 RCV000532119 SCV000653956 447099 AGRN NM_198576.3:c.5040C>T NP_940978.2:p.Asn1680= NM_198576.3:c.5040C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-18 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-18 1 1050520 C T 1050520 1050520 + Variant 128313 RCV000116275 SCV000317066;SCV000150193;SCV000531981 133762 AGRN NM_198576.3:c.5070C>T NP_940978.2:p.Phe1690= NM_198576.3:c.5070C>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-10-26 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-10-26 +1 1050520 C T 1050520 1050520 + Variant 128313 RCV000544877 SCV000653957 133762 AGRN NM_198576.3:c.5070C>T NP_940978.2:p.Phe1690= NM_198576.3:c.5070C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-26 +1 1050543 G A 1050543 1050543 + Variant 474143 RCV000557276 SCV000653958 447011 AGRN NM_198576.3:c.5093G>A NP_940978.2:p.Arg1698His NM_198576.3:c.5093G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-12 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-12 1 1050575 G C 1050575 1050575 + Variant 18241 RCV000019902 SCV000040200 33280 AGRN NM_198576.3:c.5125G>C NP_940978.2:p.Gly1709Arg NM_198576.3:c.5125G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-08-01 OMIM OMIM Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8 19631309;20301347 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2009-08-01 1 1050575 G C 1050575 1050575 + Variant 18241 RCV000235029 SCV000292410 33280 AGRN NM_198576.3:c.5125G>C NP_940978.2:p.Gly1709Arg NM_198576.3:c.5125G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 19631309;20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 1 1050763 G T 1050763 1050763 + Variant 126555 RCV000114427 SCV000148369 132068 AGRN NM_198576.3:c.5179G>T NP_940978.2:p.Val1727Phe NM_198576.3:c.5179G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-07-01 OMIM OMIM Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8 20301347;22205389 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2012-07-01 1 1050763 G T 1050763 1050763 + Variant 126555 RCV000235038 SCV000292411 132068 AGRN NM_198576.3:c.5179G>T NP_940978.2:p.Val1727Phe NM_198576.3:c.5179G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347;22205389 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 -1 1050785 G A 1050785 1050785 + Variant 263195 RCV000251658 SCV000317067;SCV000532616 249345 AGRN NM_198576.3:c.5201G>A NP_940978.2:p.Arg1734His NM_198576.3:c.5201G>A:missense variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-10-13 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-10-13 +1 1050785 G A 1050785 1050785 + Variant 263195 RCV000251658 SCV000317067;SCV000532616 249345 AGRN NM_198576.3:c.5201G>A NP_940978.2:p.Arg1734His NM_198576.3:c.5201G>A:missense variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2017-08-10 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2017-08-10 +1 1050785 G A 1050785 1050785 + Variant 263195 RCV000538163 SCV000653959 249345 AGRN NM_198576.3:c.5201G>A NP_940978.2:p.Arg1734His NM_198576.3:c.5201G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-04 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-04 +1 1050807 C T 1050807 1050807 + Variant 474144 RCV000550632 SCV000653960 447103 AGRN NM_198576.3:c.5223C>T NP_940978.2:p.Gly1741= NM_198576.3:c.5223C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 +1 1050810 C T 1050810 1050810 + Variant 474145 RCV000557635 SCV000653961 447012 AGRN NM_198576.3:c.5226C>T NP_940978.2:p.Asp1742= NM_198576.3:c.5226C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-02-21 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-02-21 +1 1051248 C T 1051248 1051248 + Variant 474146 RCV000533690 SCV000653962 447109 AGRN NM_198576.3:c.5254-5C>T NM_198576.3:c.5254-5C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-23 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-23 +1 1051257 C T 1051257 1051257 + Variant 474147 RCV000550981 SCV000653963 447020 AGRN NM_198576.3:c.5258C>T NP_940978.2:p.Pro1753Leu NM_198576.3:c.5258C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-24 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-24 +1 1051307 G A 1051307 1051307 + Variant 474148 RCV000526934 SCV000653964 447056 AGRN NM_198576.3:c.5308G>A NP_940978.2:p.Asp1770Asn NM_198576.3:c.5308G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-25 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-01-25 +1 1051326 G A 1051326 1051326 + Variant 474149 RCV000539692 SCV000653965 447059 AGRN NM_198576.3:c.5327G>A NP_940978.2:p.Arg1776His NM_198576.3:c.5327G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-15 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-15 +1 1051331 G A 1051331 1051331 + Variant 474150 RCV000547602 SCV000653966 447111 AGRN NM_198576.3:c.5332G>A NP_940978.2:p.Ala1778Thr NM_198576.3:c.5332G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-14 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-14 1 1051336 C T 1051336 1051336 + Variant 263196 RCV000246601 SCV000317069 249346 AGRN NM_198576.3:c.5337C>T NP_940978.2:p.Ala1779= NM_198576.3:c.5337C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1051351 C T 1051351 1051351 + Variant 263197 RCV000252836 SCV000317070 249347 AGRN NM_198576.3:c.5352C>T NP_940978.2:p.Phe1784= NM_198576.3:c.5352C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 -1 1051352 G A 1051352 1051352 + Variant 128314 RCV000116276 SCV000150194 133763 AGRN NM_198576.3:c.5353G>A NP_940978.2:p.Asp1785Asn NM_198576.3:c.5353G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2013-08-23 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not provided;not provided 18414213 germline MedGen:CN221809 2013-08-23 +1 1051351 C T 1051351 1051351 + Variant 263197 RCV000528442 SCV000653967 249347 AGRN NM_198576.3:c.5352C>T NP_940978.2:p.Phe1784= NM_198576.3:c.5352C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-30 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-30 +1 1051352 G A 1051352 1051352 + Variant 128314 RCV000116276 SCV000150194 133763 AGRN NM_198576.3:c.5353G>A NP_940978.2:p.Asp1785Asn NM_198576.3:c.5353G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2013-08-23 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not provided;not provided 18414213 germline MedGen:CN517202 2013-08-23 1 1051352 G A 1051352 1051352 + Variant 128314 RCV000244639 SCV000528652;SCV000317071 133763 AGRN NM_198576.3:c.5353G>A NP_940978.2:p.Asp1785Asn NM_198576.3:c.5353G>A:missense variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2017-01-10 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2017-01-10 +1 1051352 G A 1051352 1051352 + Variant 128314 RCV000540887 SCV000653968 133763 AGRN NM_198576.3:c.5353G>A NP_940978.2:p.Asp1785Asn NM_198576.3:c.5353G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-21 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-21 1 1051357 T C 1051357 1051357 + Variant 128315 RCV000116277 SCV000150195;SCV000317072;SCV000526743 133764 AGRN NM_198576.3:c.5358T>C NP_940978.2:p.Gly1786= NM_198576.3:c.5358T>C:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign;benign 0 0 0 1 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2016-09-20 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-09-20 1 1051380 G A 1051380 1051380 + Variant 263198 RCV000254171 SCV000532617;SCV000317073 249348 AGRN NM_198576.3:c.5370+11G>A NM_198576.3:c.5370+11G>A:intron variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-13 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-10-13 1 1051469 G A 1051469 1051469 + Variant 424015 RCV000485746 SCV000573787 404872 AGRN NM_198576.3:c.5387G>A NP_940978.2:p.Arg1796His NM_198576.3:c.5387G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-07 +1 1051504 G A 1051504 1051504 + Variant 474151 RCV000552514 SCV000653969 447021 AGRN NM_198576.3:c.5422G>A NP_940978.2:p.Val1808Met NM_198576.3:c.5422G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-26 +1 1051598 A G 1051598 1051598 + Variant 474152 RCV000533071 SCV000653970 447061 AGRN NM_198576.3:c.5516A>G NP_940978.2:p.Tyr1839Cys NM_198576.3:c.5516A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-25 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-25 +1 1051632 G A 1051632 1051632 + Variant 474153 RCV000541245 SCV000653971 447024 AGRN NM_198576.3:c.5550G>A NP_940978.2:p.Pro1850= NM_198576.3:c.5550G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-04-25 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-25 +1 1051639 G A 1051639 1051639 + Variant 474154 RCV000553749 SCV000653972 447063 AGRN NM_198576.3:c.5557G>A NP_940978.2:p.Glu1853Lys NM_198576.3:c.5557G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-29 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-29 1 1051736 G A 1051736 1051736 + Variant 397549 RCV000449559 SCV000537756 384432 AGRN NM_198576.3:c.5572G>A NP_940978.2:p.Glu1858Lys NM_198576.3:c.5572G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-03-17 Genome Clinic of Geneva,University Hospital of Geneva Genome Clinic of Geneva,University Hospital of Geneva Myasthenic syndrome, congenital, 8 20301347;25741868 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-03-17 -1 1051762 C T 1051762 1051762 + Variant 128316 RCV000116278 SCV000317074;SCV000150196 133765 AGRN NM_198576.3:c.5598C>T NP_940978.2:p.Thr1866= NM_198576.3:c.5598C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 1051762 C T 1051762 1051762 + Variant 128316 RCV000116278 SCV000317074;SCV000612303;SCV000150196 133765 AGRN NM_198576.3:c.5598C>T NP_940978.2:p.Thr1866= NM_198576.3:c.5598C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign;benign 0 0 0 1 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2016-11-07 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868;26467025 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-11-07 +1 1051762 C T 1051762 1051762 + Variant 128316 RCV000530029 SCV000653973 133765 AGRN NM_198576.3:c.5598C>T NP_940978.2:p.Thr1866= NM_198576.3:c.5598C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-26 1 1051775 G A 1051775 1051775 + Variant 243040 RCV000235024 SCV000292412 244114 AGRN NM_198576.3:c.5611G>A NP_940978.2:p.Gly1871Arg NM_198576.3:c.5611G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-07-14 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 1 1051779 G A 1051779 1051779 + Variant 388957 RCV000427038 SCV000531360 364297 AGRN NM_198576.3:c.5615G>A NP_940978.2:p.Arg1872Gln NM_198576.3:c.5615G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-09-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-07 1 1051807 G A 1051807 1051807 + Variant 390523 RCV000433372 SCV000533376 364332 AGRN NM_198576.3:c.5643G>A NP_940978.2:p.Val1881= NM_198576.3:c.5643G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-10 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-10 1 1051811 G A 1051811 1051811 + Variant 263199 RCV000249073 SCV000317075 249349 AGRN NM_198576.3:c.5647G>A NP_940978.2:p.Glu1883Lys NM_198576.3:c.5647G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1051820 C T 1051820 1051820 + Variant 128317 RCV000116279 SCV000317076;SCV000519175;SCV000150197 133766 AGRN NM_198576.3:c.5651+5C>T NM_198576.3:c.5651+5C>T:intron variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 +1 1053768 G A 1053768 1053768 + Variant 474155 RCV000547044 SCV000653974 446974 AGRN NM_198576.3:c.5667G>A NP_940978.2:p.Gln1889= NM_198576.3:c.5667G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-22 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 +1 1053826 A C 1053826 1053826 + Variant 474156 RCV000559740 SCV000653975 447113 AGRN NM_198576.3:c.5725A>C NP_940978.2:p.Ser1909Arg NM_198576.3:c.5725A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-01 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-01 1 1053827 G C 1053827 1053827 + Variant 128318 RCV000116280 SCV000150198;SCV000317077 133767 AGRN NM_198576.3:c.5726G>C NP_940978.2:p.Ser1909Thr NM_198576.3:c.5726G>C:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 +1 1053827 G C 1053827 1053827 + Variant 128318 RCV000531259 SCV000653976 133767 AGRN NM_198576.3:c.5726G>C NP_940978.2:p.Ser1909Thr NM_198576.3:c.5726G>C:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-07 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-07 +1 1053836 C T 1053836 1053836 + Variant 474157 RCV000542856 SCV000653977 447066 AGRN NM_198576.3:c.5735C>T NP_940978.2:p.Ala1912Val NM_198576.3:c.5735C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-27 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-27 +1 1053839 C T 1053839 1053839 + Variant 474158 RCV000559811 SCV000653978 447075 AGRN NM_198576.3:c.5738C>T NP_940978.2:p.Thr1913Met NM_198576.3:c.5738C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-05 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 1 1053844 C T 1053844 1053844 + Variant 422180 RCV000485272 SCV000571586 404873 AGRN NM_198576.3:c.5743C>T NP_940978.2:p.Arg1915Trp NM_198576.3:c.5743C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-21 +1 1053915 C T 1053915 1053915 + Variant 474160 RCV000548862 SCV000653980 447076 AGRN NM_198576.3:c.5814C>T NP_940978.2:p.Pro1938= NM_198576.3:c.5814C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-11-14 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-14 1 1053933 C T 1053933 1053933 + Variant 434111 RCV000499981 SCV000593074 427609 AGRN NM_198576.3:c.5832C>T NP_940978.2:p.Thr1944= NM_198576.3:c.5832C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-04-11 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-04-11 1 1054431 C A 1054431 1054431 + Variant 263200 RCV000250424 SCV000317078 249351 AGRN NM_198576.3:c.5877-17C>A NM_198576.3:c.5877-17C>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 1054467 C T 1054467 1054467 + Variant 474161 RCV000556702 SCV000653981 447027 AGRN NM_198576.3:c.5896C>T NP_940978.2:p.Leu1966= NM_198576.3:c.5896C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-14 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-14 +1 1054519 C T 1054519 1054519 + Variant 474162 RCV000537577 SCV000653982 447080 AGRN NM_198576.3:c.5948C>T NP_940978.2:p.Thr1983Met NM_198576.3:c.5948C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-01 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-01 1 1054833 C T 1054833 1054833 + Variant 430302 RCV000492841 SCV000583076 421152 AGRN NM_198576.3:c.5990C>T NP_940978.2:p.Pro1997Leu NM_198576.3:c.5990C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-22 +1 1054833 C T 1054833 1054833 + Variant 430302 RCV000525192 SCV000653984 421152 AGRN NM_198576.3:c.5990C>T NP_940978.2:p.Pro1997Leu NM_198576.3:c.5990C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-02 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-02 +1 1054838 C A 1054838 1054838 + Variant 474164 RCV000542184 SCV000653985 447030 AGRN NM_198576.3:c.5995C>A NP_940978.2:p.Leu1999Met NM_198576.3:c.5995C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-24 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-24 +1 1054844 G A 1054844 1054844 + Variant 474166 RCV000526397 SCV000653987 447082 AGRN NM_198576.3:c.6001G>A NP_940978.2:p.Val2001Met NM_198576.3:c.6001G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-29 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-29 1 1054862 A G 1054862 1054862 + Variant 385926 RCV000425631 SCV000527367 364344 AGRN NM_198576.3:c.6019A>G NP_940978.2:p.Lys2007Glu NM_198576.3:c.6019A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-05-02 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-02 1 1054897 G A 1054897 1054897 + Variant 263201 RCV000253570 SCV000317079 249352 AGRN NM_198576.3:c.6054G>A NP_940978.2:p.Arg2018= NM_198576.3:c.6054G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 1054900 C T 1054900 1054900 + Variant 128319 RCV000116281 SCV000150199;SCV000519176;SCV000317080 133768 AGRN NM_198576.3:c.6057C>T NP_940978.2:p.Asp2019= NM_198576.3:c.6057C>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-19 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 +1 1054911 G T 1054911 1054911 + Variant 474167 RCV000539106 SCV000653988 447085 AGRN NM_198576.3:c.6068G>T NP_940978.2:p.Gly2023Val NM_198576.3:c.6068G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-05 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 +1 1054962 G A 1054962 1054962 + Variant 474168 RCV000556109 SCV000653989 446976 AGRN NM_198576.3:c.6119G>A NP_940978.2:p.Arg2040Gln NM_198576.3:c.6119G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-24 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-24 1 1055000 C T 1055000 1055000 + Variant 263157 RCV000252490 SCV000317004;SCV000519189 249353 AGRN NM_198576.3:c.*19C>T NM_198576.3:c.*19C>T:3 prime UTR variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-02-01 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-02-01 +1 1211585 G A 1211585 1211585 - Variant 474798 RCV000537491 SCV000654816 447197 TNFRSF4 NM_003327.3:c.804C>T NP_003318.1:p.Ala268= NM_003327.3:c.804C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-29 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-06-29 +1 1211957 C T 1211957 1211957 - Variant 474797 RCV000556703 SCV000654815 447083 TNFRSF4 NM_003327.3:c.619G>A NP_003318.1:p.Val207Met NM_003327.3:c.619G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-25 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-07-25 1 1212042 C T 1212042 1212042 - Variant 403556 RCV000455786 SCV000540562 389315 TNFRSF4 NM_003327.3:c.534G>A NP_003318.1:p.Glu178= NM_003327.3:c.534G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-03-28 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified 24033266 germline MedGen:CN169374 2016-03-28 +1 1213065 G A 1213065 1213065 - Variant 474796 RCV000544166 SCV000654814 447259 TNFRSF4 NM_003327.3:c.297C>T NP_003318.1:p.Cys99= NM_003327.3:c.297C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-10 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-07-10 +1 1213069 A G 1213069 1213069 - Variant 474795 RCV000531541 SCV000654813 447260 TNFRSF4 NM_003327.3:c.293T>C NP_003318.1:p.Leu98Pro NM_003327.3:c.293T>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-21 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-06-21 1 1213738 G A 1213738 1213738 - Variant 96692 RCV000082860 SCV000114912 102585 TNFRSF4 NM_003327.3:c.193C>T NP_003318.1:p.Arg65Cys NM_003327.3:c.193C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-08-26 OMIM OMIM Immunodeficiency 16;IMMUNODEFICIENCY 16 (1 patient) 23897980 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2013-08-26 +1 1214100 G A 1214100 1214100 - Variant 474794 RCV000559880 SCV000654812 447262 TNFRSF4 NM_003327.3:c.28C>T NP_003318.1:p.Arg10Cys NM_003327.3:c.28C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-25 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-07-25 1 1232256 G A 1232256 1232256 + Variant 390144 RCV000433352 SCV000532898 364446 B3GALT6 NM_080605.3:c.-23G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-20 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-20 1 1232279 A G 1232279 1232279 + Variant 60484 RCV000054390 SCV000082867 75079 B3GALT6 NM_080605.3:c.1A>G NP_542172.2:p.Met1Val NM_080605.3:c.1A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 -1 1232294 C T 1232294 1232294 + Variant 60493 RCV000054399 SCV000082876 75088 B3GALT6 NM_080605.3:c.16C>T NP_542172.2:p.Arg6Trp NM_080605.3:c.16C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 +1 1232294 C T 1232294 1232294 + Variant 60493 RCV000054399 SCV000082876 75088 B3GALT6 NM_080605.3:c.16C>T NP_542172.2:p.Arg6Trp NM_080605.3:c.16C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 1 1232295 G A 1232295 1232295 + Variant 429685 RCV000493202 SCV000582314 421163 B3GALT6 NM_080605.3:c.17G>A NP_542172.2:p.Arg6Gln NM_080605.3:c.17G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-08 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-08 1 1232300 T G 1232300 1232300 + Variant 193479 RCV000173551 SCV000224673 190643 B3GALT6 NM_080605.3:c.22T>G NP_542172.2:p.Trp8Gly NM_080605.3:c.22T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-02-05 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-02-05 1 1232309 C T 1232309 1232309 + Variant 386485 RCV000444888 SCV000528170 364354 B3GALT6 NM_080605.3:c.31C>T NP_542172.2:p.Arg11Trp NM_080605.3:c.31C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-05-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-17 +1 1232313 C G 1232313 1232313 + Variant 450501 RCV000520086 SCV000619096 442611 B3GALT6 NM_080605.3:c.35C>G NP_542172.2:p.Ala12Gly NM_080605.3:c.35C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-07-07 1 1232324 C T 1232324 1232324 + Variant 391547 RCV000441345 SCV000534639 364403 B3GALT6 NM_080605.3:c.46C>T NP_542172.2:p.Leu16= NM_080605.3:c.46C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-09 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-09 -1 1232385 C T 1232385 1232385 + Variant 392324 RCV000431606 SCV000535577 364451 B3GALT6 NM_080605.3:c.107C>T NP_542172.2:p.Pro36Leu NM_080605.3:c.107C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-04 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-04 +1 1232385 C T 1232385 1232385 + Variant 392324 RCV000431606 SCV000535577 364451 B3GALT6 NM_080605.3:c.107C>T NP_542172.2:p.Pro36Leu NM_080605.3:c.107C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-27 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-07-27 1 1232416 C T 1232416 1232416 + Variant 193478 RCV000173550 SCV000224672;SCV000525607 190642 B3GALT6 NM_080605.3:c.138C>T NP_542172.2:p.Ser46= NM_080605.3:c.138C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-09-29 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2015-02-10;2016-09-29 1 1232458 A G 1232458 1232458 + Variant 288791 RCV000380808 SCV000343009 273028 B3GALT6 NM_080605.3:c.180A>G NP_542172.2:p.Ala60= NM_080605.3:c.180A>G:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-21 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-06-21 1 1232471 A G 1232471 1232471 + Variant 60488 RCV000054394 SCV000082871 75083 B3GALT6 NM_080605.3:c.193A>G NP_542172.2:p.Ser65Gly NM_080605.3:c.193A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 1 1232478 C T 1232478 1232478 + Variant 60489 RCV000054395 SCV000082872 75084 B3GALT6 NM_080605.3:c.200C>T NP_542172.2:p.Pro67Leu NM_080605.3:c.200C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 -1 1232616 A G 1232616 1232616 + Variant 424885 RCV000488044 SCV000574737 413219 B3GALT6 NM_080605.3:c.338A>G NP_542172.2:p.Gln113Arg NM_080605.3:c.338A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-31 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-03-31 -1 1232630 GA G 1232631 1232631 + Variant 60490 RCV000054396 SCV000082873 75085 B3GALT6 NM_080605.3:c.353delA NP_542172.2:p.Asp118Alafs NM_080605.3:c.353delA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 +1 1232517 G A 1232517 1232517 + Variant 452846 RCV000520848 SCV000621690 442612 B3GALT6 NM_080605.3:c.239G>A NP_542172.2:p.Trp80Ter NM_080605.3:c.239G>A:nonsense Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-16 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2017-10-16 +1 1232616 A G 1232616 1232616 + Variant 424885 RCV000488044 SCV000574737 413219 B3GALT6 NM_080605.3:c.338A>G NP_542172.2:p.Gln113Arg NM_080605.3:c.338A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-31 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-03-31 +1 1232630 GA G 1232631 1232631 + Variant 60490 RCV000054396 SCV000082873 75085 B3GALT6 NM_080605.3:c.353delA NP_542172.2:p.Asp118Alafs NM_080605.3:c.353delA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 1 1232632 C CCTG 1232643 1232645 + Variant 421834 RCV000485868 SCV000571148 404899 B3GALT6 NM_080605.3:c.365_367dupTGC NP_542172.2:p.Leu122_Pro123insLeu Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-04 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-08-04 1 1232645 C T 1232645 1232645 + Variant 387709 RCV000432423 SCV000529832 364408 B3GALT6 NM_080605.3:c.367C>T NP_542172.2:p.Pro123Ser NM_080605.3:c.367C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-05 -1 1232684 GTGCTGGCCA G 1232693 1232701 + Variant 60494 RCV000054400 SCV000082877 75089 B3GALT6 NM_080605.3:c.415_423delATGCTGGCC NP_542172.2:p.Met139_Ala141del NM_080605.3:c.415_423delATGCTGGCC:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 +1 1232684 GTGCTGGCCA G 1232693 1232701 + Variant 60494 RCV000054400 SCV000082877 75089 B3GALT6 NM_080605.3:c.415_423delATGCTGGCC NP_542172.2:p.Met139_Ala141del NM_080605.3:c.415_423delATGCTGGCC:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 1 1232735 C A 1232735 1232735 + Variant 390636 RCV000431776 SCV000533522 364355 B3GALT6 NM_080605.3:c.457C>A NP_542172.2:p.Leu153Ile NM_080605.3:c.457C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-09 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-09 1 1232744 G A 1232744 1232744 + Variant 60486 RCV000054392 SCV000082869 75081 B3GALT6 NM_080605.3:c.466G>A NP_542172.2:p.Asp156Asn NM_080605.3:c.466G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 1 1232793 C T 1232793 1232793 + Variant 373234 RCV000413594 SCV000491813 359211 B3GALT6 NM_080605.3:c.515C>T NP_542172.2:p.Ala172Val NM_080605.3:c.515C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-25 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-25 1 1232800 G C 1232800 1232800 + Variant 281204 RCV000287240 SCV000524226;SCV000331726 265441 B3GALT6 NM_080605.3:c.522G>C NP_542172.2:p.Glu174Asp NM_080605.3:c.522G>C:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-18 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2016-03-04;2016-10-18 -1 1232859 CG C 1232866 1232866 + Variant 60492 RCV000054398 SCV000082875 75087 B3GALT6 NM_080605.3:c.588delG NP_542172.2:p.Arg197Alafs NM_080605.3:c.588delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 +1 1232859 CG C 1232866 1232866 + Variant 60492 RCV000054398 SCV000082875 75087 B3GALT6 NM_080605.3:c.588delG NP_542172.2:p.Arg197Alafs NM_080605.3:c.588delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 1 1232861 G C 1232861 1232861 + Variant 390607 RCV000425752 SCV000533484 364455 B3GALT6 NM_080605.3:c.583G>C NP_542172.2:p.Gly195Arg NM_080605.3:c.583G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-03 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-03 -1 1232861 G C 1232861 1232861 + Variant 390607 RCV000513657 SCV000608448 364455 B3GALT6 NM_080605.3:c.583G>C NP_542172.2:p.Gly195Arg NM_080605.3:c.583G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-30 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-04-30 +1 1232861 G C 1232861 1232861 + Variant 390607 RCV000513657 SCV000608448 364455 B3GALT6 NM_080605.3:c.583G>C NP_542172.2:p.Gly195Arg NM_080605.3:c.583G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-30 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-04-30 1 1232865 G T 1232865 1232865 + Variant 281706 RCV000408441 SCV000332633;SCV000524227 265943 B3GALT6 NM_080605.3:c.587G>T NP_542172.2:p.Gly196Val NM_080605.3:c.587G>T:missense variant Uncertain significance uncertain significance;uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-02-29 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2015-06-25;2016-02-29 1 1232882 G A 1232882 1232882 + Variant 423210 RCV000478140 SCV000572872 404900 B3GALT6 NM_080605.3:c.604G>A NP_542172.2:p.Ala202Thr NM_080605.3:c.604G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-30 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-30 1 1232897 G C 1232897 1232897 + Variant 60495 RCV000054401 SCV000082878 75090 B3GALT6 NM_080605.3:c.619G>C NP_542172.2:p.Asp207His NM_080605.3:c.619G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES 23664118 germline MedGen:C4017378 2013-06-06 @@ -168,12 +315,15 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 1232972 C T 1232972 1232972 + Variant 60485 RCV000054391 SCV000082868 75080 B3GALT6 NM_080605.3:c.694C>T NP_542172.2:p.Arg232Cys NM_080605.3:c.694C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 1 1232977 C T 1232977 1232977 + Variant 290128 RCV000295132 SCV000344630 274365 B3GALT6 NM_080605.3:c.699C>T NP_542172.2:p.Asp233= NM_080605.3:c.699C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-09-05 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-05 1 1233031 G A 1233031 1233031 + Variant 283369 RCV000266846 SCV000335404 267606 B3GALT6 NM_080605.3:c.753G>A NP_542172.2:p.Pro251= NM_080605.3:c.753G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-10-04 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-10-04 +1 1233096 A G 1233096 1233096 + Variant 453100 RCV000522158 SCV000621960 442613 B3GALT6 NM_080605.3:c.818A>G NP_542172.2:p.Asn273Ser NM_080605.3:c.818A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-31 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-31 1 1233112 G A 1233112 1233112 + Variant 283589 RCV000389593 SCV000335787 267826 B3GALT6 NM_080605.3:c.834G>A NP_542172.2:p.Thr278= NM_080605.3:c.834G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-10-08 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-10-08 1 1233131 G A 1233131 1233131 + Variant 283597 RCV000360273 SCV000335795 267834 B3GALT6 NM_080605.3:c.853G>A NP_542172.2:p.Asp285Asn NM_080605.3:c.853G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-10-08 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-10-08 1 1233177 G C 1233177 1233177 + Variant 60487 RCV000054393 SCV000082870 75082 B3GALT6 NM_080605.3:c.899G>C NP_542172.2:p.Cys300Ser NM_080605.3:c.899G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 1 1233187 G A 1233187 1233187 + Variant 193477 RCV000173549 SCV000224671 190641 B3GALT6 NM_080605.3:c.909G>A NP_542172.2:p.Glu303= NM_080605.3:c.909G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-02-10 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-02-10 -1 1233203 T A 1233203 1233203 + Variant 60491 RCV000054397 SCV000082874 75086 B3GALT6 NM_080605.3:c.925T>A NP_542172.2:p.Ser309Thr NM_080605.3:c.925T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 +1 1233203 T A 1233203 1233203 + Variant 60491 RCV000054397 SCV000082874 75086 B3GALT6 NM_080605.3:c.925T>A NP_542172.2:p.Ser309Thr NM_080605.3:c.925T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-06-06 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 1 1336392 C T 1336392 1336392 - Variant 391198 RCV000437568 SCV000534215 364458 DVL1 NM_004421.2:c.1763G>A NP_004412.2:p.Gly588Glu NM_004421.2:c.1763G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-19 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-19 +1 1336453 G A 1336453 1336453 - Variant 445443 RCV000514751 SCV000609816 438715 DVL1 NM_004421.2:c.1702C>T NP_004412.2:p.Arg568Trp NM_004421.2:c.1702C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-28 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-08-28 +1 1337992 TC T 1337993 1337993 - Variant 488046 RCV000577923 SCV000583564 481061 DVL1 NM_004421.2:c.1623delG NP_004412.2:p.Ser542Valfs NM_004421.2:c.1623delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2 25577943;29276006 unknown GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2017-06-01 1 1338000 CT C 1338001 1338001 - Variant 208047 RCV000193819 SCV000256690;SCV000243851 204306 DVL1 NM_004421.2:c.1615delA NP_004412.2:p.Ser539Alafs NM_004421.2:c.1615delA:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2015-07-30 GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-07-30;2015-03-26 1 1338033 TAGGCAGG C 1338033 1338040 - Variant 208050 RCV000194315 SCV000243854;SCV000222664 204307 DVL1 NM_004421.2:c.1576_1583delCCTGCCTAinsG NP_004412.2:p.Pro526Alafs NM_004421.2:c.1576_1583delCCTGCCTAinsG:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided;no assertion criteria provided 2015-07-30 GeneReviews;OMIM OMIM;GeneReviews Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 22431878;25577943;25817014 germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30 1 1338045 AA G 1338045 1338046 - Variant 208043 RCV000192810 SCV000243847;SCV000256686;SCV000222660 204308 DVL1 NM_004421.2:c.1570_1571delTTinsC NP_004412.2:p.Phe524Profs NM_004421.2:c.1570_1571delTTinsC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter 2015-07-30 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 @@ -181,50 +331,59 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 1338086 AC A 1338087 1338087 - Variant 208048 RCV000195217 SCV000256691;SCV000243852 204310 DVL1 NM_004421.2:c.1529delG NP_004412.2:p.Gly510Valfs NM_004421.2:c.1529delG:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2015-07-30 GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-07-30;2015-03-26 1 1338092 AG A 1338094 1338094 - Variant 219223 RCV000208706 SCV000257460 217239 DVL1 NM_004421.2:c.1522delC NP_004412.2:p.Pro508Leufs NM_004421.2:c.1522delC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-01 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2 23806086;24088041;25577943;26924530 de novo GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-12-01 1 1338096 CA C 1338097 1338097 - Variant 208045 RCV000195250 SCV000222663;SCV000243849;SCV000256688 204311 DVL1 NM_004421.2:c.1519delT NP_004412.2:p.Trp507Glyfs NM_004421.2:c.1519delT:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter 2015-07-30 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25045061;25577943;25817014;25817016 germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 -1 1338098 GGGGGCAGCCGGGT G 1338099 1338111 - Variant 208044 RCV000193850 SCV000256687;SCV000222659;SCV000243848 204312 DVL1 NM_004421.2:c.1505_1517delACCCGGCTGCCCC NP_004412.2:p.His502Profs NM_004421.2:c.1505_1517delACCCGGCTGCCCC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter 2015-07-30 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 +1 1338098 GGGGGCAGCCGGGT G 1338099 1338111 - Variant 208044 RCV000193850 SCV000256687;SCV000222659;SCV000243848 204312 DVL1 NM_004421.2:c.1505_1517delACCCGGCTGCCCC NP_004412.2:p.His502Profs NM_004421.2:c.1505_1517delACCCGGCTGCCCC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter 2017-06-01 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 25577943;25817016;29276006 de novo;germline;unknown GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2017-06-01 1 1338107 CG C 1338108 1338108 - Variant 208046 RCV000192930 SCV000222661;SCV000243850;SCV000256689 204313 DVL1 NM_004421.2:c.1508delC NP_004412.2:p.Pro503Argfs NM_004421.2:c.1508delC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter 2015-07-30 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 10319206;23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 -1 1338529 G GGCATTGGC 1338530 1338537 - Variant 373812 RCV000413003 SCV000492436 359205 DVL1 NM_004421.2:c.1249_1256dupGCCAATGC NP_004412.2:p.Val420Profs NM_004421.2:c.1249_1256dupGCCAATGC:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-08 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-12-08 +1 1338107 CGGGTGGGGCAGCG C 1338108 1338120 - Variant 488047 RCV000577891 SCV000583565 481063 DVL1 NM_004421.2:c.1496_1508delCGCTGCCCCACCC NP_004412.2:p.Pro499Argfs NM_004421.2:c.1496_1508delCGCTGCCCCACCC:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2 25577943;29276006 unknown GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2017-06-01 +1 1338410 T C 1338410 1338410 - Variant 445553 RCV000514391 SCV000610053 438825 DVL1 NM_004421.2:c.1291A>G NP_004412.2:p.Thr431Ala NM_004421.2:c.1291A>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-20 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-03-20 +1 1338529 G GGCATTGGC 1338530 1338537 - Variant 373812 RCV000413003 SCV000492436 359205 DVL1 NM_004421.2:c.1249_1256dupGCCAATGC NP_004412.2:p.Val420Profs NM_004421.2:c.1249_1256dupGCCAATGC:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-08 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-12-08 1 1339388 G A 1339388 1339388 - Variant 391268 RCV000429612 SCV000534300 364462 DVL1 NM_004421.2:c.1106C>T NP_004412.2:p.Ala369Val NM_004421.2:c.1106C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-16 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-16 -1 1341659 CCA C 1341660 1341661 - Variant 376849 RCV000429733 SCV000510745 363727 DVL1 NM_004421.2:c.605+6_605+7delTG NM_004421.2:c.605+6_605+7delTG:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-18 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-01-18-06:00 +1 1341659 CCA C 1341660 1341661 - Variant 376849 RCV000429733 SCV000510745 363727 DVL1 NM_004421.2:c.605+6_605+7delTG NM_004421.2:c.605+6_605+7delTG:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-18 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-01-18 1 1353913 A T 1353913 1353913 - Variant 402162 RCV000454237 SCV000537939 389106 MXRA8 NM_032348.3:c.1238T>A NP_115724.1:p.Ile413Asn NM_032348.3:c.1238T>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Abnormality of brain morphology 26539891 inherited HP:HP:0012443;Human Phenotype Ontology:HP:0012443;MedGen:C4021085 0000-00-00 -1 1455821 G A 1455821 1455821 + Variant 423820 RCV000479669 SCV000573565 404901 ATAD3C NM_001039211.2:c.469G>A NP_001034300.2:p.Ala157Thr NM_001039211.2:c.469G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-28 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-28 1 1512426 C T 1512426 1512426 + Variant 225697 RCV000412620 SCV000490327 227512 ATAD3A NM_018188.4:c.158C>T NP_060658.3:p.Thr53Ile NM_001170536.1:c.-297C>T:2KB upstream variant;NM_018188.4:c.158C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-11-29 OMIM OMIM Harel-Yoon syndrome;HAREL-YOON SYNDROME, AUTOSOMAL RECESSIVE 27640307 germline MedGen:C4310677;OMIM:617183 2016-11-29 1 1512426 C T 1512426 1512426 + Variant 225697 RCV000488882 SCV000267602 227512 ATAD3A NM_018188.4:c.158C>T NP_060658.3:p.Thr53Ile NM_001170536.1:c.-297C>T:2KB upstream variant;NM_018188.4:c.158C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-26 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine not specified;Congenital cataracts;Ataxia;Seizure;not specified 27640307 germline MedGen:CN169374 2016-04-26 1 1516035 C G 1516035 1516035 + Variant 432628 RCV000498349 SCV000590377 425308 ATAD3A NM_018188.4:c.229C>G NP_060658.3:p.Leu77Val NM_018188.4:c.229C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-06 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-06 +1 1516057 C T 1516057 1516057 + Variant 452865 RCV000519405 SCV000621709 442620 ATAD3A NM_018188.4:c.251C>T NP_060658.3:p.Thr84Met NM_018188.4:c.251C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-17 +1 1520260 C T 1520260 1520260 + Variant 452740 RCV000523197 SCV000621571 442621 ATAD3A NM_018188.4:c.778C>T NP_060658.3:p.Arg260Cys NM_018188.4:c.778C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-23 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-23 +1 1520284 C T 1520284 1520284 + Variant 452211 RCV000518892 SCV000620999 442622 ATAD3A NM_018188.4:c.802C>T NP_060658.3:p.Gln268Ter NM_018188.4:c.802C>T:nonsense Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-09-18 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-09-18 +1 1520588 G C 1520588 1520588 + Variant 453143 RCV000522935 SCV000622009 442623 ATAD3A NM_018188.4:c.865G>C NP_060658.3:p.Val289Leu NM_018188.4:c.865G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-31 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-31 +1 1520617 G A 1520617 1520617 + Variant 452866 RCV000521220 SCV000621710 442624 ATAD3A NM_018188.4:c.894G>A NP_060658.3:p.Thr298= NM_018188.4:c.894G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-17 1 1529299 C T 1529299 1529299 + Variant 225696 RCV000412539 SCV000490326;SCV000494159 227511 ATAD3A NM_018188.4:c.1726C>T NP_060658.3:p.Arg576Trp NM_018188.4:c.1726C>T:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided;no assertion criteria provided 2016-11-29 OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Harel-Yoon syndrome;HAREL-YOON SYNDROME 27640307 de novo;unknown MedGen:C4310677;OMIM:617183 2016-11-29;0000-00-00 -1 1529299 C T 1529299 1529299 + Variant 225696 RCV000488909 SCV000267601 227511 ATAD3A NM_018188.4:c.1726C>T NP_060658.3:p.Arg576Trp NM_018188.4:c.1726C>T:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-26 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine not provided;Developmental delay;Peripheral neuropathy;Optic atrophy;Cardiomyopathy;not provided 27640307 germline MedGen:CN221809 2016-04-26 +1 1529299 C T 1529299 1529299 + Variant 225696 RCV000488909 SCV000267601 227511 ATAD3A NM_018188.4:c.1726C>T NP_060658.3:p.Arg576Trp NM_018188.4:c.1726C>T:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-26 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine not provided;Developmental delay;Peripheral neuropathy;Optic atrophy;Cardiomyopathy;not provided 27640307 germline MedGen:CN517202 2016-04-26 1 1535370 G A 1535370 1535370 - Variant 161196 RCV000148348 SCV000195812 171043 TMEM240 NM_001114748.1:c.511C>T NP_001108220.1:p.Arg171Trp NM_001114748.1:c.511C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-10-01 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 1 1535372 G A 1535372 1535372 - Variant 161192 RCV000148344 SCV000597502;SCV000195808 171039 TMEM240 NM_001114748.1:c.509C>T NP_001108220.1:p.Pro170Leu NM_001114748.1:c.509C>T:missense variant Conflicting interpretations of pathogenicity pathogenic;likely pathogenic 1 1 0 0 0 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 2017-06-08 OMIM;Genetic Services Laboratory, University of Chicago OMIM;Genetic Services Laboratory, University of Chicago Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21;Spinocerebellar ataxia 21 11160961;20050888;20301317;25070513;25741868 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01;2017-06-08 -1 1535372 G A 1535372 1535372 - Variant 161192 RCV000322616 SCV000330042 171039 TMEM240 NM_001114748.1:c.509C>T NP_001108220.1:p.Pro170Leu NM_001114748.1:c.509C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-11-26 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2015-11-26 +1 1535372 G A 1535372 1535372 - Variant 161192 RCV000322616 SCV000330042 171039 TMEM240 NM_001114748.1:c.509C>T NP_001108220.1:p.Pro170Leu NM_001114748.1:c.509C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-11-26 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2015-11-26 1 1535392 G C 1535392 1535392 - Variant 161193 RCV000148345 SCV000195809 171040 TMEM240 NM_001114748.1:c.489C>G NP_001108220.1:p.Tyr163Ter NM_001114748.1:c.489C>G:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-10-01 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 1 1535457 G A 1535457 1535457 - Variant 393221 RCV000424137 SCV000536598 364388 TMEM240 NM_001114748.1:c.424C>T NP_001108220.1:p.Arg142Trp NM_001114748.1:c.424C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-25 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-25 1 1535589 C T 1535589 1535589 - Variant 373233 RCV000413204 SCV000491812 359223 TMEM240 NM_001114748.1:c.373G>A NP_001108220.1:p.Asp125Asn NM_001114748.1:c.373G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-22 1 1535616 G A 1535616 1535616 - Variant 161194 RCV000148346 SCV000195810 171041 TMEM240 NM_001114748.1:c.346C>T NP_001108220.1:p.Arg116Cys NM_001114748.1:c.346C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-10-01 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 1 1535618 A G 1535618 1535618 - Variant 437011 RCV000503526 SCV000597503 427636 TMEM240 NM_001114748.1:c.344T>C NP_001108220.1:p.Val115Ala NM_001114748.1:c.344T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-17 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-12-17 1 1535723 G A 1535723 1535723 - Variant 161195 RCV000148347 SCV000195811 171042 TMEM240 NM_001114748.1:c.239C>T NP_001108220.1:p.Thr80Met NM_001114748.1:c.239C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2014-10-01 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 -1 1535766 C T 1535766 1535766 - Variant 372833 RCV000413958 SCV000491361 359235 TMEM240 NM_001114748.1:c.196G>A NP_001108220.1:p.Gly66Arg NM_001114748.1:c.196G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-27 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-01-27 +1 1535766 C T 1535766 1535766 - Variant 372833 RCV000413958 SCV000491361 359235 TMEM240 NM_001114748.1:c.196G>A NP_001108220.1:p.Gly66Arg NM_001114748.1:c.196G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-27 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-01-27 1 1615612 C A 1615612 1615612 + Variant 218832 RCV000202894 SCV000258233 215186 MIB2 NM_080875.2:c.153C>A NP_543151.2:p.Cys51Ter NM_001170689.1:c.-618C>A:2KB upstream variant;NM_080875.2:c.153C>A:nonsense;NR_033183.1:n.198C>A:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-06-11 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 2015-06-11 1 1705645 TTTTC T 1705646 1705649 - Variant 421783 RCV000480151 SCV000571086 404982 CDK11A NM_024011.3:c.1329_1332delGAAA NP_076916.2:p.Lys444Glnfs NM_024011.3:c.1329_1332delGAAA:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-25 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-25 1 1787378 C T 1787378 1787378 - Variant 224718 RCV000210260 SCV000266340 226495 GNB1 NM_002074.4:c.976G>A NP_002065.1:p.Ala326Thr NM_002074.4:c.976G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Intellectual disability;Global developmental delay;Generalized tonic-clonic seizures;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0001249;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0002069;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001306;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002069;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002407;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007252;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0010520;MedGen:C0036572;MedGen:C0494475;MedGen:C1843367;MedGen:C4020875;MedGen:CN001147 2016-02-10 -1 1789102 G A 1789102 1789102 - Variant 444148 RCV000512793 SCV000608449 437788 GNB1 NM_002074.4:c.867C>T NP_002065.1:p.Tyr289= NM_002074.4:c.867C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-31 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 -1 1804503 C T 1804503 1804503 - Variant 444149 RCV000513217 SCV000608450 437789 GNB1 NM_002074.4:c.346G>A NP_002065.1:p.Gly116Ser NM_002074.4:c.346G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-31 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 +1 1789102 G A 1789102 1789102 - Variant 444148 RCV000512793 SCV000608449 437788 GNB1 NM_002074.4:c.867C>T NP_002065.1:p.Tyr289= NM_002074.4:c.867C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-31 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 +1 1789139 G C 1789139 1789139 - Variant 452928 RCV000523284 SCV000621777 442673 GNB1 NM_002074.4:c.830C>G NP_002065.1:p.Ser277Cys NM_002074.4:c.830C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-17 +1 1804461 C T 1804461 1804461 - Variant 452797 RCV000523422 SCV000621634 442675 GNB1 NM_002074.4:c.388G>A NP_002065.1:p.Glu130Lys NM_002074.4:c.388G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-16 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2017-10-16 +1 1804503 C T 1804503 1804503 - Variant 444149 RCV000513217 SCV000608450 437789 GNB1 NM_002074.4:c.346G>A NP_002065.1:p.Gly116Ser NM_002074.4:c.346G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-31 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 1 1804548 T C 1804548 1804548 - Variant 224717 RCV000210283 SCV000266339 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Expressive language delay;Seizures;Focal seizures with impairment of consciousness or awareness;Intellectual disability;Global developmental delay;Generalized tonic-clonic seizures;Developmental regression;Multifocal epileptiform discharges;EEG with generalized epileptiform discharges;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0001249;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0002069;HP:HP:0002376;HP:HP:0002384;HP:HP:0002474;HP:HP:0010841;HP:HP:0011198;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001306;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002069;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002384;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002407;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002471;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002489;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006797;Human Phenotype Ontology:HP:0006828;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006854;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007037;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007242;Human Phenotype Ontology:HP:0007247;Human Phenotype Ontology:HP:0007252;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;MedGen:C0036572;MedGen:C0149958;MedGen:C0494475;MedGen:C1843367;MedGen:C1847610;MedGen:C1855009;MedGen:C4020875;MedGen:C4021219;MedGen:C4023476;MedGen:CN001147 2016-02-10 1 1804548 T C 1804548 1804548 - Variant 224717 RCV000225171 SCV000282065 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 27108799 germline MedGen:C4310774;OMIM:616973 2016-08-08 -1 1804548 T C 1804548 1804548 - Variant 224717 RCV000480671 SCV000571181 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-17 GeneDx GeneDx not provided;Not Provided 27108799 germline MedGen:CN221809 2017-03-17 +1 1804548 T C 1804548 1804548 - Variant 224717 RCV000480671 SCV000571181 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-17 GeneDx GeneDx not provided;Not Provided 27108799 germline MedGen:CN517202 2017-03-17 1 1804565 A G 1804565 1804565 - Variant 224716 RCV000210270 SCV000266338 226497 GNB1 NM_002074.4:c.284T>C NP_002065.1:p.Leu95Pro NM_001282538.1:c.-17T>C:5 prime UTR variant;NM_002074.4:c.284T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Expressive language delay;Seizures;Failure to thrive;Feeding difficulties;Nystagmus;Cortical visual impairment;Strabismus;Intellectual disability;Global developmental delay;Growth delay;Limb hypertonia;Inability to walk;Multifocal epileptiform discharges;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0000639;HP:HP:0001249;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001508;HP:HP:0001510;HP:HP:0002474;HP:HP:0002509;HP:HP:0002540;HP:HP:0010841;HP:HP:0011968;HP:HP:0100704;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000595;Human Phenotype Ontology:HP:0000639;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002540;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0011968;Human Phenotype Ontology:HP:0100704;MedGen:C0028738;MedGen:C0036572;MedGen:C0038379;MedGen:C0155320;MedGen:C0231246;MedGen:C0232466;MedGen:C0560046;MedGen:C1838391;MedGen:C1843367;MedGen:C1847610;MedGen:C3552463;MedGen:C4020875;MedGen:C4021219;MedGen:CN001147 2016-02-10 -1 1806476 T C 1806476 1806476 - Variant 422536 RCV000486531 SCV000572033 404989 GNB1 NM_002074.4:c.266A>G NP_002065.1:p.Lys89Arg NM_002074.4:c.266A>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-24 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-10-24 -1 1806503 A C 1806503 1806503 - Variant 391609 RCV000439050 SCV000534719 364646 GNB1 NM_002074.4:c.239T>G NP_002065.1:p.Ile80Ser NM_002074.4:c.239T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-16 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-12-16 +1 1806476 T C 1806476 1806476 - Variant 422536 RCV000486531 SCV000572033 404989 GNB1 NM_002074.4:c.266A>G NP_002065.1:p.Lys89Arg NM_002074.4:c.266A>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-24 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-10-24 +1 1806503 A C 1806503 1806503 - Variant 391609 RCV000439050 SCV000534719 364646 GNB1 NM_002074.4:c.239T>G NP_002065.1:p.Ile80Ser NM_002074.4:c.239T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-16 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-12-16 1 1806503 A G 1806503 1806503 - Variant 208722 RCV000190738 SCV000244179 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Ambry Genetics Ambry Genetics Inborn genetic diseases;MR/ID/DD;Dermatologic (child onset);Neurologic (child onset);Ophthalmologic (child onset) 22947299;23037933;23169492;23619275;23652378;23881473;24022298;24121147;24394680;25356970;25560141;25626707;25730230;27108799 germline MeSH:D030342;MedGen:C0950123 0000-00-00 1 1806503 A G 1806503 1806503 - Variant 208722 RCV000208571 SCV000263295 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-12-04 Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes Dystonia;Hypothyroidism;Intellectual disability;Growth delay;Infantile axial hypotonia;Upper limb hypertonia;Cleft palate 20301334;21956720;25485910;27108799 de novo GeneTests:25706;Genetic Alliance:Dystonia/2405;Human Phenotype Ontology:HP:0000175;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000750;Human Phenotype Ontology:HP:0000821;Human Phenotype Ontology:HP:0000851;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001332;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002451;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0003222;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0008203;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0009062;Human Phenotype Ontology:HP:0012758;Human Phenotype Ontology:HP:0012759;Human Phenotype Ontology:HP:0200049;MedGen:C0008925;MedGen:C0013421;MedGen:C0020676;MedGen:C0393593;MedGen:C1843367;MedGen:C1970931;MedGen:C2750951;MedGen:C3552463;MedGen:C3806604;MedGen:C4021898;MedGen:CN001379;MedGen:CN117790;MedGen:CN200780;OMIM:PS128100 2015-12-04 1 1806503 A G 1806503 1806503 - Variant 208722 RCV000210259 SCV000266337 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Expressive language delay;Seizures;Failure to thrive;Nystagmus;Strabismus;Global developmental delay;Growth delay;Developmental regression;Limb hypertonia;Inability to walk;Multifocal epileptiform discharges;EEG with generalized epileptiform discharges;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0000639;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001508;HP:HP:0001510;HP:HP:0002376;HP:HP:0002474;HP:HP:0002509;HP:HP:0002540;HP:HP:0010841;HP:HP:0011198;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000639;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002471;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002489;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002540;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006797;Human Phenotype Ontology:HP:0006828;Human Phenotype Ontology:HP:0006854;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007037;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007242;Human Phenotype Ontology:HP:0007247;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;MedGen:C0028738;MedGen:C0036572;MedGen:C0038379;MedGen:C0231246;MedGen:C0560046;MedGen:C1838391;MedGen:C1847610;MedGen:C1855009;MedGen:C3552463;MedGen:C4020875;MedGen:C4021219;MedGen:C4023476;MedGen:CN001147 2016-02-10 1 1806503 A G 1806503 1806503 - Variant 208722 RCV000225179 SCV000282059 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 25485910;27108799 unknown MedGen:C4310774;OMIM:616973 2016-08-08 1 1806503 A G 1806503 1806503 - Variant 208722 RCV000225295 SCV000282060 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Myelodysplastic syndrome 25485910;27108799 somatic Genetic Alliance:Myelodysplastic+syndromes/5021;MeSH:D009190;MedGen:C0026986;OMIM:137295.0002;OMIM:137295.0014;OMIM:614286;Orphanet:52688 2016-08-08 -1 1806503 A G 1806503 1806503 - Variant 208722 RCV000418135 SCV000529467 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-28 GeneDx GeneDx not provided;Not Provided 27108799 germline MedGen:CN221809 2016-06-28 +1 1806503 A G 1806503 1806503 - Variant 208722 RCV000418135 SCV000529467 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-28 GeneDx GeneDx not provided;Not Provided 27108799 germline MedGen:CN517202 2016-06-28 1 1806503 A T 1806503 1806503 - Variant 224715 RCV000210280 SCV000266336 226498 GNB1 NM_002074.4:c.239T>A NP_002065.1:p.Ile80Asn NM_001282538.1:c.-62T>A:5 prime UTR variant;NM_002074.4:c.239T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Failure to thrive;Feeding difficulties;Focal seizures with impairment of consciousness or awareness;Cortical visual impairment;Global developmental delay;Growth delay;Limb hypertonia;Infantile muscular hypotonia;Multifocal epileptiform discharges;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001508;HP:HP:0001510;HP:HP:0002384;HP:HP:0002509;HP:HP:0008947;HP:HP:0010841;HP:HP:0011968;HP:HP:0100704;Human Phenotype Ontology:HP:0000595;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002384;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002449;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002523;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0008947;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010572;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0011968;Human Phenotype Ontology:HP:0100704;MedGen:C0036572;MedGen:C0149958;MedGen:C0155320;MedGen:C0231246;MedGen:C0232466;MedGen:C1838391;MedGen:C1860834;MedGen:C3552463;MedGen:C4020875;MedGen:C4021219;MedGen:CN001147 2016-02-10 1 1806503 A T 1806503 1806503 - Variant 224715 RCV000225195 SCV000282062 226498 GNB1 NM_002074.4:c.239T>A NP_002065.1:p.Ile80Asn NM_001282538.1:c.-62T>A:5 prime UTR variant;NM_002074.4:c.239T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 25485910;27108799 unknown MedGen:C4310774;OMIM:616973 2016-08-08 1 1806503 A T 1806503 1806503 - Variant 224715 RCV000225283 SCV000282063 226498 GNB1 NM_002074.4:c.239T>A NP_002065.1:p.Ile80Asn NM_001282538.1:c.-62T>A:5 prime UTR variant;NM_002074.4:c.239T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Acute lymphoid leukemia 25485910;27108799 somatic Gene:100310785;Genetic Alliance:Acute+Lymphoblastic+Leukemia/188;MedGen:C0023449;OMIM:613065;Office of Rare Diseases:522;Orphanet:513;SNOMED CT:91857003 2016-08-08 1 1806509 T C 1806509 1806509 - Variant 224714 RCV000210269 SCV000266335 226499 GNB1 NM_002074.4:c.233A>G NP_002065.1:p.Lys78Arg NM_001282538.1:c.-68A>G:5 prime UTR variant;NM_002074.4:c.233A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Feeding difficulties;Strabismus;Global developmental delay;Growth delay;Infantile muscular hypotonia;EEG with generalized epileptiform discharges;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001510;HP:HP:0008947;HP:HP:0011198;HP:HP:0011968;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002449;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002523;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0008947;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010572;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;Human Phenotype Ontology:HP:0011968;MedGen:C0036572;MedGen:C0038379;MedGen:C0232466;MedGen:C1860834;MedGen:C3552463;MedGen:C4020875;MedGen:C4023476;MedGen:CN001147 2016-02-10 1 1806509 T C 1806509 1806509 - Variant 224714 RCV000225134 SCV000282064 226499 GNB1 NM_002074.4:c.233A>G NP_002065.1:p.Lys78Arg NM_001282538.1:c.-68A>G:5 prime UTR variant;NM_002074.4:c.233A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 27108799 germline MedGen:C4310774;OMIM:616973 2016-08-08 +1 1806509 T C 1806509 1806509 - Variant 224714 RCV000523590 SCV000618168 226499 GNB1 NM_002074.4:c.233A>G NP_002065.1:p.Lys78Arg NM_001282538.1:c.-68A>G:5 prime UTR variant;NM_002074.4:c.233A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-09-29 GeneDx GeneDx not provided;Not Provided 27108799 germline MedGen:CN517202 2017-09-29 1 1806512 C G 1806512 1806512 - Variant 431082 RCV000496115 SCV000574520 424605 GNB1 NM_002074.4:c.230G>C NP_002065.1:p.Gly77Ala NM_002074.4:c.230G>C:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 KK Women’s and Children’s Hospital KK Women’s and Children’s Hospital Mental retardation, autosomal dominant 42 25741868;27759915 de novo Human Phenotype Ontology:HP:0000175;Human Phenotype Ontology:HP:0000565;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001290;Human Phenotype Ontology:HP:0001332;Human Phenotype Ontology:HP:0006721;MedGen:C4310774;OMIM:616973 0000-00-00 1 1806513 C T 1806513 1806513 - Variant 224713 RCV000210256 SCV000266334 226500 GNB1 NM_002074.4:c.229G>A NP_002065.1:p.Gly77Ser NM_001282538.1:c.-72G>A:5 prime UTR variant;NM_002074.4:c.229G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Global developmental delay;Muscular hypotonia 21956720;27108799 de novo HP:HP:0001252;HP:HP:0001263;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;MedGen:C4020875;MedGen:CN001147 2016-02-10 1 1806514 A C 1806514 1806514 - Variant 224712 RCV000210277 SCV000266333 226501 GNB1 NM_002074.4:c.228T>G NP_002065.1:p.Asp76Glu NM_001282538.1:c.-73T>G:5 prime UTR variant;NM_002074.4:c.228T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-10 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Failure to thrive;Focal seizures with impairment of consciousness or awareness;Strabismus;Global developmental delay;Limb hypertonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0001250;HP:HP:0001263;HP:HP:0001508;HP:HP:0002384;HP:HP:0002509;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002384;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0010520;MedGen:C0036572;MedGen:C0038379;MedGen:C0149958;MedGen:C0231246;MedGen:C1838391;MedGen:C4020875 2016-02-10 @@ -232,210 +391,277 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 1806515 T C 1806515 1806515 - Variant 224711 RCV000225254 SCV000282057 226502 GNB1 NM_002074.4:c.227A>G NP_002065.1:p.Asp76Gly NM_001282538.1:c.-74A>G:5 prime UTR variant;NM_002074.4:c.227A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 25485910;27108799 unknown MedGen:C4310774;OMIM:616973 2016-08-08 1 1806515 T C 1806515 1806515 - Variant 224711 RCV000225357 SCV000282058 226502 GNB1 NM_002074.4:c.227A>G NP_002065.1:p.Asp76Gly NM_001282538.1:c.-74A>G:5 prime UTR variant;NM_002074.4:c.227A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-08-08 OMIM OMIM Acute lymphoid leukemia 25485910;27108799 somatic Gene:100310785;Genetic Alliance:Acute+Lymphoblastic+Leukemia/188;MedGen:C0023449;OMIM:613065;Office of Rare Diseases:522;Orphanet:513;SNOMED CT:91857003 2016-08-08 1 2024923 G A 2024923 2024923 + Variant 256824 RCV000245842 SCV000305551 249668 GABRD NM_000815.4:c.69-19G>A NM_000815.4:c.69-19G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 -1 2025020 C T 2025020 2025020 + Variant 374418 RCV000416042 SCV000493139 361304 GABRD NM_000815.4:c.147C>T NP_000806.2:p.Ala49= NM_000815.4:c.147C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-31 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2016-08-31 +1 2024957 C T 2024957 2024957 + Variant 460016 RCV000533983 SCV000632051 447688 GABRD NM_000815.4:c.84C>T NP_000806.2:p.Ile28= NM_000815.4:c.84C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-23 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-01-23 +1 2024969 G C 2024969 2024969 + Variant 460019 RCV000538743 SCV000632054 447653 GABRD NM_000815.4:c.96G>C NP_000806.2:p.Val32= NM_000815.4:c.96G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-26 +1 2025020 C T 2025020 2025020 + Variant 374418 RCV000416042 SCV000493139 361304 GABRD NM_000815.4:c.147C>T NP_000806.2:p.Ala49= NM_000815.4:c.147C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-31 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2016-08-31 +1 2025531 C T 2025531 2025531 + Variant 460008 RCV000555228 SCV000632041 447663 GABRD NM_000815.4:c.263C>T NP_000806.2:p.Thr88Met NM_000815.4:c.263C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-04 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-05-04 1 2025598 T C 2025598 2025598 + Variant 256823 RCV000254456 SCV000305550 249669 GABRD NM_000815.4:c.330T>C NP_000806.2:p.Gly110= NM_000815.4:c.330T>C:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 2025673 C T 2025673 2025673 + Variant 460009 RCV000533383 SCV000632042 447690 GABRD NM_000815.4:c.405C>T NP_000806.2:p.His135= NM_000815.4:c.405C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-12 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-08-12 +1 2025682 G A 2025682 2025682 + Variant 460010 RCV000543716 SCV000632043 447710 GABRD NM_000815.4:c.414G>A NP_000806.2:p.Thr138= NM_000815.4:c.414G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-28 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-28 +1 2025744 C T 2025744 2025744 + Variant 447367 RCV000516909 SCV000613370 440428 GABRD NM_000815.4:c.470+6C>T NM_000815.4:c.470+6C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-09 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2017-06-09 +1 2025744 C T 2025744 2025744 + Variant 447367 RCV000557679 SCV000632044 440428 GABRD NM_000815.4:c.470+6C>T NM_000815.4:c.470+6C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-06 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-06 +1 2027569 C A 2027569 2027569 + Variant 460011 RCV000536140 SCV000632045 447557 GABRD NM_000815.4:c.471-8C>A NM_000815.4:c.471-8C>A:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-16 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-06-16 +1 2027598 C T 2027598 2027598 + Variant 460012 RCV000546205 SCV000632046 447712 GABRD NM_000815.4:c.492C>T NP_000806.2:p.Cys164= NM_000815.4:c.492C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-05 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-03-05 +1 2027628 C T 2027628 2027628 + Variant 460013 RCV000556453 SCV000632047 447670 GABRD NM_000815.4:c.522C>T NP_000806.2:p.Asp174= NM_000815.4:c.522C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-19 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-19 1 2027636 A C 2027636 2027636 + Variant 16212 RCV000017598 SCV000037871 31251 GABRD NM_000815.4:c.530A>C NP_000806.2:p.Glu177Ala NM_000815.4:c.530A>C:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2004-07-01 OMIM OMIM Generalized epilepsy with febrile seizures plus type 5;GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO 15115768 germline Genetics Home Reference:genetic-epilepsy-with-febrile-seizures-plus;MedGen:C3150401;OMIM:613060 2004-07-01 +1 2028197 G A 2028197 2028197 + Variant 447368 RCV000518032 SCV000613371 440429 GABRD NM_000815.4:c.596G>A NP_000806.2:p.Ser199Asn NM_000815.4:c.596G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-20 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2016-12-20 1 2028260 G A 2028260 2028260 + Variant 16213 RCV000017599 SCV000037872 31252 GABRD NM_000815.4:c.659G>A NP_000806.2:p.Arg220His NM_000815.4:c.659G>A:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-06-01 OMIM OMIM Generalized epilepsy with febrile seizures plus type 5;GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO 15115768;16023832 germline Genetics Home Reference:genetic-epilepsy-with-febrile-seizures-plus;MedGen:C3150401;OMIM:613060 2005-06-01 1 2028260 G A 2028260 2028260 + Variant 16213 RCV000017600 SCV000037873 31252 GABRD NM_000815.4:c.659G>A NP_000806.2:p.Arg220His NM_000815.4:c.659G>A:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-06-01 OMIM OMIM Epilepsy, juvenile myoclonic 7 15115768;16023832 germline MedGen:C2751604;OMIM:137163.0002;OMIM:613060 2005-06-01 1 2028260 G A 2028260 2028260 + Variant 16213 RCV000022558 SCV000043847 31252 GABRD NM_000815.4:c.659G>A NP_000806.2:p.Arg220His NM_000815.4:c.659G>A:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 2005-06-01 OMIM OMIM Epilepsy, idiopathic generalized 10 15115768;16023832 germline Genetic Alliance:Epilepsy%2C+idiopathic+generalized+10/8327;MedGen:C2751603;OMIM:137163.0002;OMIM:613060 2005-06-01 +1 2028260 G A 2028260 2028260 + Variant 16213 RCV000535201 SCV000632048 31252 GABRD NM_000815.4:c.659G>A NP_000806.2:p.Arg220His NM_000815.4:c.659G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-14 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-08-14 1 2028269 C T 2028269 2028269 + Variant 218470 RCV000203171 SCV000257725 215187 GABRD NM_000815.4:c.668C>T NP_000806.2:p.Thr223Met NM_000815.4:c.668C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-14 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 2015-04-14 -1 2029194 G A 2029194 2029194 + Variant 235308 RCV000224860 SCV000280781 236995 GABRD NM_000815.4:c.775G>A NP_000806.2:p.Val259Ile NM_000815.4:c.775G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-02-01 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-02-01-06:00 +1 2029147 T C 2029147 2029147 + Variant 460014 RCV000550107 SCV000632049 447714 GABRD NM_000815.4:c.728T>C NP_000806.2:p.Leu243Pro NM_000815.4:c.728T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-20 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-20 +1 2029194 G A 2029194 2029194 + Variant 235308 RCV000224860 SCV000280781 236995 GABRD NM_000815.4:c.775G>A NP_000806.2:p.Val259Ile NM_000815.4:c.775G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-02-01 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2016-02-01 1 2029235 C T 2029235 2029235 + Variant 256825 RCV000248963 SCV000305552 249670 GABRD NM_000815.4:c.816C>T NP_000806.2:p.Ser272= NM_000815.4:c.816C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 2029250 C T 2029250 2029250 + Variant 460015 RCV000528248 SCV000632050 447672 GABRD NM_000815.4:c.831C>T NP_000806.2:p.Pro277= NM_000815.4:c.831C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-02-23 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-02-23 +1 2029570 G A 2029570 2029570 + Variant 460017 RCV000550297 SCV000632052 447427 GABRD NM_000815.4:c.867G>A NP_000806.2:p.Thr289= NM_000815.4:c.867G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-22 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-04-22 +1 2029672 C A 2029672 2029672 + Variant 460018 RCV000528733 SCV000632053 447681 GABRD NM_000815.4:c.969C>A NP_000806.2:p.Ala323= NM_000815.4:c.969C>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-28 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-06-28 +1 2029705 C T 2029705 2029705 + Variant 460002 RCV000540976 SCV000632034 447558 GABRD NM_000815.4:c.1002C>T NP_000806.2:p.Asn334= NM_000815.4:c.1002C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-12 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-08-12 1 2029969 C T 2029969 2029969 + Variant 256822 RCV000249647 SCV000305549 249671 GABRD NM_000815.4:c.1060-14C>T NM_000815.4:c.1060-14C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 +1 2029976 C T 2029976 2029976 + Variant 460003 RCV000555572 SCV000632035 447724 GABRD NM_000815.4:c.1060-7C>T NM_000815.4:c.1060-7C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-16 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-05-16 +1 2030027 C T 2030027 2030027 + Variant 460004 RCV000524915 SCV000632036 447683 GABRD NM_000815.4:c.1104C>T NP_000806.2:p.Ala368= NM_000815.4:c.1104C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-11 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-08-11 +1 2030028 G A 2030028 2030028 + Variant 447365 RCV000517771 SCV000613368 440430 GABRD NM_000815.4:c.1105G>A NP_000806.2:p.Gly369Ser NM_000815.4:c.1105G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-23 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2017-02-23 +1 2030030 C A 2030030 2030030 + Variant 460005 RCV000541195 SCV000632037 447685 GABRD NM_000815.4:c.1107C>A NP_000806.2:p.Gly369= NM_000815.4:c.1107C>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-18 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-05-18 1 2030031 G A 2030031 2030031 + Variant 375540 RCV000417018 SCV000494562 362315 GABRD NM_000815.4:c.1108G>A NP_000806.2:p.Val370Ile NM_000815.4:c.1108G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-16 Neurogenetics Laboratory - MEYER,AOU Meyer Neurogenetics Laboratory - MEYER,AOU Meyer Epileptic encephalopathy 25741868 unknown Human Phenotype Ontology:HP:0200134;MedGen:C0543888 2016-11-16 +1 2030031 G A 2030031 2030031 + Variant 375540 RCV000556057 SCV000632038 362315 GABRD NM_000815.4:c.1108G>A NP_000806.2:p.Val370Ile NM_000815.4:c.1108G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-14 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-06-14 +1 2030073 C T 2030073 2030073 + Variant 460006 RCV000529757 SCV000632039 447731 GABRD NM_000815.4:c.1150C>T NP_000806.2:p.Pro384Ser NM_000815.4:c.1150C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-29 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-04-29 +1 2030089 G C 2030089 2030089 + Variant 447366 RCV000518660 SCV000613369 440431 GABRD NM_000815.4:c.1166G>C NP_000806.2:p.Gly389Ala NM_000815.4:c.1166G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-30 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2016-11-30 +1 2030125 C T 2030125 2030125 + Variant 460007 RCV000544951 SCV000632040 447432 GABRD NM_000815.4:c.1202C>T NP_000806.2:p.Thr401Met NM_000815.4:c.1202C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-26 1 2228725 G A 2228725 2228725 + Variant 392772 RCV000441067 SCV000536096 364806 SKI NM_003036.3:c.-42G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-16 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-16 1 2228739 G T 2228739 2228739 + Variant 393061 RCV000425453 SCV000536418 364809 SKI NM_003036.3:c.-28G>T Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-17 1 2228748 G A 2228748 2228748 + Variant 386778 RCV000444804 SCV000528551 364818 SKI NM_003036.3:c.-19G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-06-07 1 2228777 C T 2228777 2228777 + Variant 426734 RCV000490080 SCV000577262 414765 SKI NM_003036.3:c.11C>T NP_003027.1:p.Ala4Val NM_003036.3:c.11C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-06 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-06 -1 2228825 C T 2228825 2228825 + Variant 409969 RCV000457554 SCV000550372 391048 SKI NM_003036.3:c.59C>T NP_003027.1:p.Thr20Met NM_003036.3:c.59C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-05-30 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-30 +1 2228825 C T 2228825 2228825 + Variant 409969 RCV000457554 SCV000550372 391048 SKI NM_003036.3:c.59C>T NP_003027.1:p.Thr20Met NM_003036.3:c.59C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-05-30 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-30 1 2228828 T G 2228828 2228828 + Variant 224869 RCV000210450 SCV000266527 226716 SKI NM_003036.3:c.62T>G NP_003027.1:p.Leu21Arg NM_003036.3:c.62T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome 20301454;23023332 de novo GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 0000-00-00 1 2228860 C G 2228860 2228860 + Variant 37259 RCV000030817 SCV000266525;SCV000053492 45849 SKI NM_003036.3:c.94C>G NP_003027.1:p.Leu32Val NM_003036.3:c.94C>G:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2015-02-01 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230;24736733 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01;0000-00-00 1 2228865 C G 2228865 2228865 + Variant 139112 RCV000173298 SCV000269831;SCV000224395;SCV000171637;SCV000605113;SCV000309367 142815 SKI NM_003036.3:c.99C>G NP_003027.1:p.Gly33= NM_003036.3:c.99C>G:synonymous variant Benign benign;benign;benign;benign;benign 0 0 0 0 5 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2017-02-15 ARUP Laboratories, Molecular Genetics and Genomics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;not specified;Not specified;NOT SPECIFIED 24033266;25741868 germline MedGen:CN169374 2014-05-27;2015-01-13;2015-11-03;0000-00-00;2017-02-15 -1 2228865 C G 2228865 2228865 + Variant 139112 RCV000226611 SCV000287846 142815 SKI NM_003036.3:c.99C>G NP_003027.1:p.Gly33= NM_003036.3:c.99C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-25 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-25 +1 2228865 C G 2228865 2228865 + Variant 139112 RCV000226611 SCV000287846 142815 SKI NM_003036.3:c.99C>G NP_003027.1:p.Gly33= NM_003036.3:c.99C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-03 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-08-03 1 2228866 G A 2228866 2228866 + Variant 37261 RCV000030819 SCV000266520;SCV000053494 45851 SKI NM_003036.3:c.100G>A NP_003027.1:p.Gly34Ser NM_003036.3:c.100G>A:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2015-02-01 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230;24736733 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01;0000-00-00 -1 2228866 G A 2228866 2228866 + Variant 37261 RCV000200686 SCV000250672 45851 SKI NM_003036.3:c.100G>A NP_003027.1:p.Gly34Ser NM_003036.3:c.100G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2014-12-11 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2014-12-11 -1 2228866 G T 2228866 2228866 + Variant 37262 RCV000030820 SCV000053495;SCV000266522 45852 SKI NM_003036.3:c.100G>T NP_003027.1:p.Gly34Cys NM_003036.3:c.100G>T:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2012-11-02 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02;0000-00-00 +1 2228866 G A 2228866 2228866 + Variant 37261 RCV000200686 SCV000250672 45851 SKI NM_003036.3:c.100G>A NP_003027.1:p.Gly34Ser NM_003036.3:c.100G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2014-12-11 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2014-12-11 +1 2228866 G T 2228866 2228866 + Variant 37262 RCV000030820 SCV000053495;SCV000266522;SCV000637271 45852 SKI NM_003036.3:c.100G>T NP_003027.1:p.Gly34Cys NM_003036.3:c.100G>T:missense variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter 2017-06-15 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;Invitae OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;Invitae Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230;28492532 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02;0000-00-00;2017-06-15 1 2228867 G A 2228867 2228867 + Variant 37260 RCV000030818 SCV000266523;SCV000053493 45850 SKI NM_003036.3:c.101G>A NP_003027.1:p.Gly34Asp NM_003036.3:c.101G>A:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2015-02-01 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;24736733 de novo;unknown GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01;0000-00-00 1 2228867 G T 2228867 2228867 + Variant 39783 RCV000033005 SCV000056784 48382 SKI NM_003036.3:c.101G>T NP_003027.1:p.Gly34Val NM_003036.3:c.101G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2015-02-01 OMIM OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23103230;24736733 unknown GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01 1 2228869 C T 2228869 2228869 + Variant 39786 RCV000033008 SCV000266524;SCV000056787 48385 SKI NM_003036.3:c.103C>T NP_003027.1:p.Pro35Ser NM_003036.3:c.103C>T:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2015-02-01 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230;24736733 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01;0000-00-00 1 2228870 C A 2228870 2228870 + Variant 39785 RCV000033007 SCV000056786 48384 SKI NM_003036.3:c.104C>A NP_003027.1:p.Pro35Gln NM_003036.3:c.104C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-11-02 OMIM OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23103230 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02 -1 2228870 C G 2228870 2228870 + Variant 409977 RCV000475694 SCV000597058;SCV000550383 390987 SKI NM_003036.3:c.104C>G NP_003027.1:p.Pro35Arg NM_003036.3:c.104C>G:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely pathogenic 0 1 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-09-23 Invitae,;Genetic Services Laboratory, University of Chicago Invitae,;Genetic Services Laboratory, University of Chicago Shprintzen-Goldberg syndrome;Shprintzen-Goldberg syndrome 20301454;23023332;23103230;25741868 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-23;2016-09-21 +1 2228870 C G 2228870 2228870 + Variant 409977 RCV000475694 SCV000597058;SCV000550383 390987 SKI NM_003036.3:c.104C>G NP_003027.1:p.Pro35Arg NM_003036.3:c.104C>G:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely pathogenic 0 1 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-09-23 Genetic Services Laboratory, University of Chicago;Invitae Invitae;Genetic Services Laboratory, University of Chicago Shprintzen-Goldberg syndrome;Shprintzen-Goldberg syndrome 20301454;23023332;23103230;25741868 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-23;2016-09-21 1 2228871 G A 2228871 2228871 + Variant 386838 RCV000437914 SCV000528633 364811 SKI NM_003036.3:c.105G>A NP_003027.1:p.Pro35= NM_003036.3:c.105G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-06-22 +1 2228882 C T 2228882 2228882 + Variant 463393 RCV000557750 SCV000637274 447643 SKI NM_003036.3:c.116C>T NP_003027.1:p.Ser39Leu NM_003036.3:c.116C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-23 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-23 +1 2228895 G A 2228895 2228895 + Variant 463395 RCV000551618 SCV000637279 447644 SKI NM_003036.3:c.129G>A NP_003027.1:p.Ala43= NM_003036.3:c.129G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-28 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-28 1 2228904 C T 2228904 2228904 + Variant 213665 RCV000198300 SCV000250648 209445 SKI NM_003036.3:c.138C>T NP_003027.1:p.Ala46= NM_003036.3:c.138C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-01-06 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-01-06 1 2228908 A C 2228908 2228908 + Variant 432531 RCV000498045 SCV000590265 425338 SKI NM_003036.3:c.142A>C NP_003027.1:p.Lys48Gln NM_003036.3:c.142A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-05 +1 2228908 A C 2228908 2228908 + Variant 432531 RCV000557338 SCV000637280 425338 SKI NM_003036.3:c.142A>C NP_003027.1:p.Lys48Gln NM_003036.3:c.142A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-06 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-06 1 2228913 G A 2228913 2228913 + Variant 385331 RCV000445172 SCV000526570 364907 SKI NM_003036.3:c.147G>A NP_003027.1:p.Lys49= NM_003036.3:c.147G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-04-06 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-04-06 +1 2228949 G C 2228949 2228949 + Variant 463397 RCV000527350 SCV000637286 447807 SKI NM_003036.3:c.183G>C NP_003027.1:p.Pro61= NM_003036.3:c.183G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-10 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-10 1 2228951 C G 2228951 2228951 + Variant 139113 RCV000128047 SCV000269830;SCV000171638;SCV000309357;SCV000605112 142816 SKI NM_003036.3:c.185C>G NP_003027.1:p.Ala62Gly NM_003036.3:c.185C>G:missense variant Benign benign;benign;benign;benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2017-06-05 ARUP Laboratories, Molecular Genetics and Genomics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;Not specified;NOT SPECIFIED 24033266;25741868 germline MedGen:CN169374 2014-05-16;2015-02-20;0000-00-00;2017-06-05 -1 2228955 G GGTGCCC 2228957 2228962 + Variant 409976 RCV000467436 SCV000550382 391069 SKI NM_003036.3:c.191_196dupTGCCCG NP_003027.1:p.Pro65_Ala66insValPro Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-11 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-11 -1 2228982 C T 2228982 2228982 + Variant 193249 RCV000204079 SCV000261590 190413 SKI NM_003036.3:c.216C>T NP_003027.1:p.Pro72= NM_003036.3:c.216C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-19 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-19 +1 2228955 G GGTGCCC 2228957 2228962 + Variant 409976 RCV000467436 SCV000550382 391069 SKI NM_003036.3:c.191_196dupTGCCCG NP_003027.1:p.Pro65_Ala66insValPro Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-11 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-11 +1 2228982 C T 2228982 2228982 + Variant 193249 RCV000204079 SCV000261590 190413 SKI NM_003036.3:c.216C>T NP_003027.1:p.Pro72= NM_003036.3:c.216C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-10 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-10 1 2228982 C T 2228982 2228982 + Variant 193249 RCV000225703 SCV000224394;SCV000605120;SCV000250664;SCV000309360 190413 SKI NM_003036.3:c.216C>T NP_003027.1:p.Pro72= NM_003036.3:c.216C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;benign;likely benign;likely benign 0 0 1 2 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2017-05-05 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2015-06-08;2015-03-02;0000-00-00;2017-05-05 1 2228982 C T 2228982 2228982 + Variant 193249 RCV000242995 SCV000319962 190413 SKI NM_003036.3:c.216C>T NP_003027.1:p.Pro72= NM_003036.3:c.216C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-08-08 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-08-08 1 2229005 A AGCC 2229015 2229017 + Variant 264471 RCV000250462 SCV000320439 257939 SKI NM_003036.3:c.249_251dupGCC NP_003027.1:p.Pro84_Val85insPro NM_003036.3:c.249_251dupGCC:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-11-10 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-11-10 -1 2229014 C T 2229014 2229014 + Variant 409973 RCV000461038 SCV000550378 391061 SKI NM_003036.3:c.248C>T NP_003027.1:p.Pro83Leu NM_003036.3:c.248C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-08 +1 2229014 C T 2229014 2229014 + Variant 409973 RCV000461038 SCV000550378 391061 SKI NM_003036.3:c.248C>T NP_003027.1:p.Pro83Leu NM_003036.3:c.248C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-08 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-08 1 2229045 GTCCGACCGC G 2229049 2229057 + Variant 37263 RCV000030821 SCV000053496;SCV000266526 45853 SKI NM_003036.3:c.283_291delGACCGCTCC NP_003027.1:p.Asp95_Ser97del NM_003036.3:c.283_291delGACCGCTCC:inframe_variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2012-11-01 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-01;0000-00-00 1 2229045 GTCCGACCGCTCC G 2229046 2229057 + Variant 39784 RCV000033006 SCV000056785 48383 SKI NM_003036.3:c.280_291delTCCGACCGCTCC NP_003027.1:p.Ser94_Ser97del NM_003036.3:c.280_291delTCCGACCGCTCC:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2012-11-02 OMIM OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23103230 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02 1 2229060 C T 2229060 2229060 + Variant 213681 RCV000198732 SCV000309361 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 2229060 C T 2229060 2229060 + Variant 213681 RCV000254475 SCV000319836 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-08-11 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-08-11 -1 2229060 C T 2229060 2229060 + Variant 213681 RCV000467477 SCV000560924 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-20 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-20 +1 2229060 C T 2229060 2229060 + Variant 213681 RCV000467477 SCV000560924 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-14 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-14 1 2229077 T C 2229077 2229077 + Variant 264417 RCV000246817 SCV000320341 257941 SKI NM_003036.3:c.311T>C NP_003027.1:p.Val104Ala NM_003036.3:c.311T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-09-17 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-09-17 1 2229078 A T 2229078 2229078 + Variant 227947 RCV000215560 SCV000531770;SCV000270847 228355 SKI NM_003036.3:c.312A>T NP_003027.1:p.Val104= NM_003036.3:c.312A>T:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-21 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-08-11;2016-09-21 +1 2229078 A T 2229078 2229078 + Variant 227947 RCV000543423 SCV000637299 228355 SKI NM_003036.3:c.312A>T NP_003027.1:p.Val104= NM_003036.3:c.312A>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-18 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-18 1 2229108 G T 2229108 2229108 + Variant 390742 RCV000418308 SCV000533655 364910 SKI NM_003036.3:c.342G>T NP_003027.1:p.Val114= NM_003036.3:c.342G>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-16 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-16 1 2229113 G A 2229113 2229113 + Variant 37258 RCV000030816 SCV000266519;SCV000053491 45848 SKI NM_003036.3:c.347G>A NP_003027.1:p.Gly116Glu NM_003036.3:c.347G>A:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2012-11-01 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-01;0000-00-00 1 2229115 G C 2229115 2229115 + Variant 224868 RCV000210472 SCV000266521 226717 SKI NM_003036.3:c.349G>C NP_003027.1:p.Gly117Arg NM_003036.3:c.349G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome 20301454;23023332 de novo GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 0000-00-00 -1 2229115 G C 2229115 2229115 + Variant 224868 RCV000498943 SCV000589671 226717 SKI NM_003036.3:c.349G>C NP_003027.1:p.Gly117Arg NM_003036.3:c.349G>C:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-02 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2017-06-02 +1 2229115 G C 2229115 2229115 + Variant 224868 RCV000498943 SCV000589671 226717 SKI NM_003036.3:c.349G>C NP_003027.1:p.Gly117Arg NM_003036.3:c.349G>C:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-02 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2017-06-02 1 2229118 G A 2229118 2229118 + Variant 222819 RCV000208203 SCV000264224 224190 SKI NM_003036.3:c.352G>A NP_003027.1:p.Glu118Lys NM_003036.3:c.352G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-10-22 Blueprint Genetics Blueprint Genetics Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-10-22 1 2229126 C T 2229126 2229126 + Variant 213682 RCV000200253 SCV000250666;SCV000605119 209448 SKI NM_003036.3:c.360C>T NP_003027.1:p.Arg120= NM_003036.3:c.360C>T:synonymous variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2017-03-16 ARUP Laboratories, Molecular Genetics and Genomics;GeneDx GeneDx;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified germline MedGen:CN169374 2015-05-06;2017-03-16 -1 2229126 C T 2229126 2229126 + Variant 213682 RCV000461600 SCV000560926 209448 SKI NM_003036.3:c.360C>T NP_003027.1:p.Arg120= NM_003036.3:c.360C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-08 +1 2229126 C T 2229126 2229126 + Variant 213682 RCV000461600 SCV000560926 209448 SKI NM_003036.3:c.360C>T NP_003027.1:p.Arg120= NM_003036.3:c.360C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-03 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-03 1 2229159 G A 2229159 2229159 + Variant 264423 RCV000254423 SCV000320354 257943 SKI NM_003036.3:c.393G>A NP_003027.1:p.Leu131= NM_003036.3:c.393G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-10-04 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-10-04 +1 2229165 C T 2229165 2229165 + Variant 463408 RCV000557967 SCV000637300 447808 SKI NM_003036.3:c.399C>T NP_003027.1:p.Asp133= NM_003036.3:c.399C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-07 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-07 1 2229183 C T 2229183 2229183 + Variant 213683 RCV000196335 SCV000250667;SCV000309362 209449 SKI NM_003036.3:c.417C>T NP_003027.1:p.Ile139= NM_003036.3:c.417C>T:synonymous variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2014-12-02 PreventionGenetics;GeneDx GeneDx;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-12-02;0000-00-00 -1 2229183 C T 2229183 2229183 + Variant 213683 RCV000234780 SCV000287840 209449 SKI NM_003036.3:c.417C>T NP_003027.1:p.Ile139= NM_003036.3:c.417C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-08 +1 2229183 C T 2229183 2229183 + Variant 213683 RCV000234780 SCV000287840 209449 SKI NM_003036.3:c.417C>T NP_003027.1:p.Ile139= NM_003036.3:c.417C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-27 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-27 1 2229201 G GCTC 2229202 2229203 + Variant 440270 RCV000506250 SCV000605118 433916 SKI NM_003036.3:c.436_437insCTC NP_003027.1:p.Glu145_Leu146insPro Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-15 ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories, Molecular Genetics and Genomics not specified germline MedGen:CN169374 2017-03-15 1 2229222 C T 2229222 2229222 + Variant 139111 RCV000128045 SCV000171636;SCV000309363 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2014-05-19 PreventionGenetics;GeneDx GeneDx;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-05-19;0000-00-00 -1 2229222 C T 2229222 2229222 + Variant 139111 RCV000228536 SCV000287841 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-25 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-25 +1 2229222 C T 2229222 2229222 + Variant 139111 RCV000228536 SCV000287841 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-26 1 2229222 C T 2229222 2229222 + Variant 139111 RCV000245385 SCV000319402 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-02-05 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-02-05 1 2229230 C G 2229230 2229230 + Variant 373594 RCV000413541 SCV000492202 359313 SKI NM_003036.3:c.464C>G NP_003027.1:p.Ala155Gly NM_003036.3:c.464C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-29 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-29 -1 2229230 C G 2229230 2229230 + Variant 373594 RCV000461900 SCV000550384 359313 SKI NM_003036.3:c.464C>G NP_003027.1:p.Ala155Gly NM_003036.3:c.464C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-05-22 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-22 -1 2229237 G A 2229237 2229237 + Variant 239478 RCV000232451 SCV000287842 238211 SKI NM_003036.3:c.471G>A NP_003027.1:p.Gln157= NM_003036.3:c.471G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-03-27 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-03-27 +1 2229230 C G 2229230 2229230 + Variant 373594 RCV000461900 SCV000550384 359313 SKI NM_003036.3:c.464C>G NP_003027.1:p.Ala155Gly NM_003036.3:c.464C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-24 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-24 +1 2229237 G A 2229237 2229237 + Variant 239478 RCV000232451 SCV000287842 238211 SKI NM_003036.3:c.471G>A NP_003027.1:p.Gln157= NM_003036.3:c.471G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-03-27 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-03-27 1 2229237 G A 2229237 2229237 + Variant 239478 RCV000247169 SCV000309364 238211 SKI NM_003036.3:c.471G>A NP_003027.1:p.Gln157= NM_003036.3:c.471G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 -1 2229253 G A 2229253 2229253 + Variant 239479 RCV000234052 SCV000287843 238212 SKI NM_003036.3:c.487G>A NP_003027.1:p.Val163Ile NM_003036.3:c.487G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-12 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-01-12 +1 2229253 G A 2229253 2229253 + Variant 239479 RCV000234052 SCV000287843 238212 SKI NM_003036.3:c.487G>A NP_003027.1:p.Val163Ile NM_003036.3:c.487G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-12 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-01-12 1 2229261 C T 2229261 2229261 + Variant 258901 RCV000250311 SCV000309365 249732 SKI NM_003036.3:c.495C>T NP_003027.1:p.Gly165= NM_003036.3:c.495C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 -1 2229265 CT GG 2229265 2229266 + Variant 213703 RCV000200337 SCV000250689 209450 SKI NM_003036.3:c.499_500delCTinsGG NP_003027.1:p.Leu167Gly NM_003036.3:c.499_500delCTinsGG:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-08 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-08-08 +1 2229265 CT GG 2229265 2229266 + Variant 213703 RCV000200337 SCV000250689 209450 SKI NM_003036.3:c.499_500delCTinsGG NP_003027.1:p.Leu167Gly NM_003036.3:c.499_500delCTinsGG:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-08 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-08-08 +1 2229277 G A 2229277 2229277 + Variant 450852 RCV000519513 SCV000619474 442725 SKI NM_003036.3:c.511G>A NP_003027.1:p.Ala171Thr NM_003036.3:c.511G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-25 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-07-25 1 2229305 C T 2229305 2229305 + Variant 213684 RCV000198523 SCV000250668 209451 SKI NM_003036.3:c.539C>T NP_003027.1:p.Thr180Met NM_003036.3:c.539C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-04-07 1 2229391 C A 2229391 2229391 + Variant 264172 RCV000242214 SCV000319905 257942 SKI NM_003036.3:c.625C>A NP_003027.1:p.Leu209Met NM_003036.3:c.625C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-07-24 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-07-24 1 2229406 A G 2229406 2229406 + Variant 213685 RCV000200824 SCV000250669 209452 SKI NM_003036.3:c.640A>G NP_003027.1:p.Ser214Gly NM_003036.3:c.640A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-21 +1 2229406 A G 2229406 2229406 + Variant 213685 RCV000551275 SCV000637302 209452 SKI NM_003036.3:c.640A>G NP_003027.1:p.Ser214Gly NM_003036.3:c.640A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-08 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-08 1 2229468 C G 2229468 2229468 + Variant 388701 RCV000441081 SCV000531061 364813 SKI NM_003036.3:c.702C>G NP_003027.1:p.Pro234= NM_003036.3:c.702C>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-08-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-08-17 1 2229492 C T 2229492 2229492 + Variant 381375 RCV000438601 SCV000520593 364674 SKI NM_003036.3:c.726C>T NP_003027.1:p.Ala242= NM_003036.3:c.726C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-11-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-11-05 1 2229502 C T 2229502 2229502 + Variant 424243 RCV000484316 SCV000574033 405059 SKI NM_003036.3:c.736C>T NP_003027.1:p.Gln246Ter NM_003036.3:c.736C>T:nonsense Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-13 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-13 1 2229534 G A 2229534 2229534 + Variant 381998 RCV000435128 SCV000521746 364823 SKI NM_003036.3:c.768G>A NP_003027.1:p.Pro256= NM_003036.3:c.768G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-12-02 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-12-02 1 2229564 C T 2229564 2229564 + Variant 193248 RCV000225717 SCV000250645;SCV000309366;SCV000224393 190412 SKI NM_003036.3:c.798C>T NP_003027.1:p.Ala266= NM_003036.3:c.798C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;benign;likely benign 0 0 1 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2014-12-19 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;PreventionGenetics not specified;not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-12-19;2014-09-04;0000-00-00 1 2229564 C T 2229564 2229564 + Variant 193248 RCV000243648 SCV000319450 190412 SKI NM_003036.3:c.798C>T NP_003027.1:p.Ala266= NM_003036.3:c.798C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-03-06 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-03-06 -1 2229564 C T 2229564 2229564 + Variant 193248 RCV000465929 SCV000560938 190412 SKI NM_003036.3:c.798C>T NP_003027.1:p.Ala266= NM_003036.3:c.798C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-06-13 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-13 +1 2229564 C T 2229564 2229564 + Variant 193248 RCV000465929 SCV000560938 190412 SKI NM_003036.3:c.798C>T NP_003027.1:p.Ala266= NM_003036.3:c.798C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-04-03 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-03 1 2229565 C T 2229565 2229565 + Variant 213663 RCV000200723 SCV000250646 209453 SKI NM_003036.3:c.799C>T NP_003027.1:p.Leu267= NM_003036.3:c.799C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-05-18 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-05-18 -1 2229565 C T 2229565 2229565 + Variant 213663 RCV000228953 SCV000287844 209453 SKI NM_003036.3:c.799C>T NP_003027.1:p.Leu267= NM_003036.3:c.799C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-26 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-26 +1 2229565 C T 2229565 2229565 + Variant 213663 RCV000228953 SCV000287844 209453 SKI NM_003036.3:c.799C>T NP_003027.1:p.Leu267= NM_003036.3:c.799C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-02 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-02 1 2229610 C A 2229610 2229610 + Variant 264492 RCV000251439 SCV000320468 257944 SKI NM_003036.3:c.844C>A NP_003027.1:p.Arg282= NM_003036.3:c.844C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-11-06 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-11-06 1 2229611 G A 2229611 2229611 + Variant 393089 RCV000421845 SCV000536449 364679 SKI NM_003036.3:c.845G>A NP_003027.1:p.Arg282Gln NM_003036.3:c.845G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-20 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-20 1 2229659 C G 2229659 2229659 + Variant 436729 RCV000502689 SCV000597059 427715 SKI NM_003036.3:c.893C>G NP_003027.1:p.Ala298Gly NM_003036.3:c.893C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-24 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-06-24 1 2229663 C T 2229663 2229663 + Variant 380753 RCV000417582 SCV000519151 364819 SKI NM_003036.3:c.897C>T NP_003027.1:p.Arg299= NM_003036.3:c.897C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-12-14 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-14 -1 2229663 C T 2229663 2229663 + Variant 380753 RCV000458602 SCV000560931 364819 SKI NM_003036.3:c.897C>T NP_003027.1:p.Arg299= NM_003036.3:c.897C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-04-18 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-04-18 +1 2229663 C T 2229663 2229663 + Variant 380753 RCV000458602 SCV000560931 364819 SKI NM_003036.3:c.897C>T NP_003027.1:p.Arg299= NM_003036.3:c.897C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-04-18 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-04-18 1 2229672 C T 2229672 2229672 + Variant 389154 RCV000442843 SCV000531605 364915 SKI NM_003036.3:c.906C>T NP_003027.1:p.Arg302= NM_003036.3:c.906C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-07 1 2229685 G A 2229685 2229685 + Variant 213686 RCV000196881 SCV000250670 209454 SKI NM_003036.3:c.919G>A NP_003027.1:p.Val307Met NM_003036.3:c.919G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-04-17 1 2229704 A G 2229704 2229704 + Variant 213687 RCV000199076 SCV000250671 209455 SKI NM_003036.3:c.938A>G NP_003027.1:p.Tyr313Cys NM_003036.3:c.938A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-03-02 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-03-02 1 2229714 G A 2229714 2229714 + Variant 213664 RCV000196098 SCV000250647 209456 SKI NM_003036.3:c.948G>A NP_003027.1:p.Lys316= NM_003036.3:c.948G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2014-08-02 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-08-02 -1 2229714 G A 2229714 2229714 + Variant 213664 RCV000231718 SCV000287845 209456 SKI NM_003036.3:c.948G>A NP_003027.1:p.Lys316= NM_003036.3:c.948G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-01 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-07-01 +1 2229714 G A 2229714 2229714 + Variant 213664 RCV000231718 SCV000287845 209456 SKI NM_003036.3:c.948G>A NP_003027.1:p.Lys316= NM_003036.3:c.948G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-01 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-07-01 1 2229730 C T 2229730 2229730 + Variant 264199 RCV000252076 SCV000319953 257945 SKI NM_003036.3:c.964C>T NP_003027.1:p.Pro322Ser NM_003036.3:c.964C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-08-14 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-08-14 1 2302971 A G 2302971 2302971 + Variant 289941 RCV000284270 SCV000344401;SCV000531468 274178 SKI NM_003036.3:c.970-7A>G NM_003036.3:c.970-7A>G:intron variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-09-02 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2016-08-26;2016-09-02 1 2303008 C T 2303008 2303008 + Variant 213688 RCV000198950 SCV000250674 209457 SKI NM_003036.3:c.1000C>T NP_003027.1:p.Pro334Ser NM_003036.3:c.1000C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2014-05-29 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-05-29 +1 2303008 C T 2303008 2303008 + Variant 213688 RCV000539809 SCV000637270 209457 SKI NM_003036.3:c.1000C>T NP_003027.1:p.Pro334Ser NM_003036.3:c.1000C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-27 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-27 1 2303013 A G 2303013 2303013 + Variant 392801 RCV000420643 SCV000536128 364935 SKI NM_003036.3:c.1005A>G NP_003027.1:p.Lys335= NM_003036.3:c.1005A>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-17 1 2303041 G A 2303041 2303041 + Variant 213666 RCV000200606 SCV000250649 209458 SKI NM_003036.3:c.1033G>A NP_003027.1:p.Ala345Thr NM_003036.3:c.1033G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-28 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-28 -1 2303041 G A 2303041 2303041 + Variant 213666 RCV000474882 SCV000550374 209458 SKI NM_003036.3:c.1033G>A NP_003027.1:p.Ala345Thr NM_003036.3:c.1033G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-18 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-18 +1 2303041 G A 2303041 2303041 + Variant 213666 RCV000474882 SCV000550374 209458 SKI NM_003036.3:c.1033G>A NP_003027.1:p.Ala345Thr NM_003036.3:c.1033G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-12 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-12 1 2303045 CT C 2303047 2303047 + Variant 432707 RCV000498739 SCV000590461 425341 SKI NM_003036.3:c.1039delT NP_003027.1:p.Ser347Profs NM_003036.3:c.1039delT:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-12 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-12 1 2303049 C T 2303049 2303049 + Variant 384269 RCV000417667 SCV000524999 364878 SKI NM_003036.3:c.1041C>T NP_003027.1:p.Ser347= NM_003036.3:c.1041C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-02-26 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-02-26 1 2303076 G A 2303076 2303076 + Variant 389348 RCV000436780 SCV000531839 364937 SKI NM_003036.3:c.1068G>A NP_003027.1:p.Leu356= NM_003036.3:c.1068G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-13 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-13 +1 2303077 C T 2303077 2303077 + Variant 463392 RCV000532859 SCV000637272 447787 SKI NM_003036.3:c.1069C>T NP_003027.1:p.Arg357Trp NM_003036.3:c.1069C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-30 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-30 1 2303078 G A 2303078 2303078 + Variant 213689 RCV000195711 SCV000250675 209459 SKI NM_003036.3:c.1070G>A NP_003027.1:p.Arg357Gln NM_003036.3:c.1070G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-24 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-24 +1 2303078 G A 2303078 2303078 + Variant 213689 RCV000542904 SCV000637273 209459 SKI NM_003036.3:c.1070G>A NP_003027.1:p.Arg357Gln NM_003036.3:c.1070G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-26 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-26 1 2303089 G A 2303089 2303089 + Variant 222820 RCV000208423 SCV000264225 224191 SKI NM_003036.3:c.1081G>A NP_003027.1:p.Gly361Ser NM_003036.3:c.1081G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-07-01 Blueprint Genetics Blueprint Genetics not specified;not specified germline MedGen:CN169374 2015-07-01 1 2303279 C T 2303279 2303279 + Variant 390923 RCV000443858 SCV000533875 364886 SKI NM_003036.3:c.1096-6C>T NM_003036.3:c.1096-6C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-28 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-28 -1 2303306 C T 2303306 2303306 + Variant 409970 RCV000465525 SCV000550373 391067 SKI NM_003036.3:c.1117C>T NP_003027.1:p.Arg373Cys NM_003036.3:c.1117C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-16 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-16 -1 2303313 G A 2303313 2303313 + Variant 444150 RCV000513628 SCV000608451 437790 SKI NM_003036.3:c.1124G>A NP_003027.1:p.Arg375His NM_003036.3:c.1124G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-30 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-06-30 +1 2303287 C G 2303287 2303287 + Variant 451982 RCV000522318 SCV000620752 442734 SKI NM_003036.3:c.1098C>G NP_003027.1:p.Ser366Arg NM_003036.3:c.1098C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-09-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-09-22 +1 2303298 T C 2303298 2303298 + Variant 449711 RCV000522336 SCV000618067 442735 SKI NM_003036.3:c.1109T>C NP_003027.1:p.Val370Ala NM_003036.3:c.1109T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-26 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-26 +1 2303306 C T 2303306 2303306 + Variant 409970 RCV000465525 SCV000550373 391067 SKI NM_003036.3:c.1117C>T NP_003027.1:p.Arg373Cys NM_003036.3:c.1117C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-16 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-16 +1 2303313 G A 2303313 2303313 + Variant 444150 RCV000513628 SCV000608451 437790 SKI NM_003036.3:c.1124G>A NP_003027.1:p.Arg375His NM_003036.3:c.1124G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-30 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-06-30 1 2303328 G A 2303328 2303328 + Variant 213690 RCV000197996 SCV000250676 209461 SKI NM_003036.3:c.1139G>A NP_003027.1:p.Arg380Gln NM_003036.3:c.1139G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2014-06-16 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-06-16 1 2303351 G A 2303351 2303351 + Variant 213667 RCV000197343 SCV000250650 209462 SKI NM_003036.3:c.1162G>A NP_003027.1:p.Ala388Thr NM_003036.3:c.1162G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-29 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-12-29 1 2303352 C T 2303352 2303352 + Variant 213668 RCV000198871 SCV000605116;SCV000250651;SCV000309348 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-08-19 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;GeneDx GeneDx;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2016-08-19;0000-00-00;2016-05-08 -1 2303352 C T 2303352 2303352 + Variant 213668 RCV000204037 SCV000261993 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-12-29 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-29 -1 2303352 C T 2303352 2303352 + Variant 213668 RCV000436746 SCV000511006 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-26 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-01-26-06:00 -1 2303353 G A 2303353 2303353 + Variant 415896 RCV000463122 SCV000560929 391070 SKI NM_003036.3:c.1164G>A NP_003027.1:p.Ala388= NM_003036.3:c.1164G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-13 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-13 +1 2303352 C T 2303352 2303352 + Variant 213668 RCV000204037 SCV000261993 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-20 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-20 +1 2303352 C T 2303352 2303352 + Variant 213668 RCV000436746 SCV000511006 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-26 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-01-26 +1 2303353 G A 2303353 2303353 + Variant 415896 RCV000463122 SCV000560929 391070 SKI NM_003036.3:c.1164G>A NP_003027.1:p.Ala388= NM_003036.3:c.1164G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-13 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-13 1 2303372 C T 2303372 2303372 + Variant 213691 RCV000198841 SCV000250677 209464 SKI NM_003036.3:c.1183C>T NP_003027.1:p.Pro395Ser NM_003036.3:c.1183C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-03-02 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-03-02 1 2303377 C T 2303377 2303377 + Variant 392508 RCV000422024 SCV000535788 364903 SKI NM_003036.3:c.1188C>T NP_003027.1:p.His396= NM_003036.3:c.1188C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-11 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-11 +1 2303378 C T 2303378 2303378 + Variant 463394 RCV000531370 SCV000637275 447833 SKI NM_003036.3:c.1189C>T NP_003027.1:p.Leu397Phe NM_003036.3:c.1189C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-01 1 2303385 C T 2303385 2303385 + Variant 213692 RCV000195594 SCV000309349;SCV000250678 209465 SKI NM_003036.3:c.1196C>T NP_003027.1:p.Ala399Val NM_003036.3:c.1196C>T:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-08-24 PreventionGenetics;GeneDx GeneDx;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2016-08-24;0000-00-00 -1 2303385 C T 2303385 2303385 + Variant 213692 RCV000227742 SCV000287832 209465 SKI NM_003036.3:c.1196C>T NP_003027.1:p.Ala399Val NM_003036.3:c.1196C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-05-05 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-05 +1 2303385 C T 2303385 2303385 + Variant 213692 RCV000227742 SCV000678208;SCV000287832 209465 SKI NM_003036.3:c.1196C>T NP_003027.1:p.Ala399Val NM_003036.3:c.1196C>T:missense variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2017-08-01 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago;Invitae Invitae;Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago Shprintzen-Goldberg syndrome 20301454;25741868;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-29;2017-08-01 +1 2303385 C T 2303385 2303385 + Variant 213692 RCV000514089 SCV000609855 209465 SKI NM_003036.3:c.1196C>T NP_003027.1:p.Ala399Val NM_003036.3:c.1196C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-04 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-05-04 1 2303386 C A 2303386 2303386 + Variant 386213 RCV000438909 SCV000527766 364718 SKI NM_003036.3:c.1197C>A NP_003027.1:p.Ala399= NM_003036.3:c.1197C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-05-18 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-18 -1 2303394 G A 2303394 2303394 + Variant 409972 RCV000466620 SCV000550376 390988 SKI NM_003036.3:c.1205G>A NP_003027.1:p.Arg402Gln NM_003036.3:c.1205G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-03 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-03 +1 2303394 G A 2303394 2303394 + Variant 409972 RCV000466620 SCV000550376 390988 SKI NM_003036.3:c.1205G>A NP_003027.1:p.Arg402Gln NM_003036.3:c.1205G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-03 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-03 1 2303410 C T 2303410 2303410 + Variant 213669 RCV000200400 SCV000250652 209466 SKI NM_003036.3:c.1211+10C>T NM_003036.3:c.1211+10C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-02-04 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-02-04 -1 2303410 C T 2303410 2303410 + Variant 213669 RCV000470601 SCV000560930 209466 SKI NM_003036.3:c.1211+10C>T NM_003036.3:c.1211+10C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-05 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-05 +1 2303410 C T 2303410 2303410 + Variant 213669 RCV000470601 SCV000560930 209466 SKI NM_003036.3:c.1211+10C>T NM_003036.3:c.1211+10C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-03 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-03 1 2303411 G A 2303411 2303411 + Variant 213670 RCV000197227 SCV000250653 209467 SKI NM_003036.3:c.1211+11G>A NM_003036.3:c.1211+11G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2014-08-08 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-08-08 1 2303417 C T 2303417 2303417 + Variant 258899 RCV000248676 SCV000309350 249763 SKI NM_003036.3:c.1211+17C>T NM_003036.3:c.1211+17C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 -1 2303419 C T 2303419 2303419 + Variant 258900 RCV000251824 SCV000309351;SCV000514629 249764 SKI NM_003036.3:c.1211+19C>T NM_003036.3:c.1211+19C>T:intron variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-12-06 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-12-06 +1 2303419 C T 2303419 2303419 + Variant 258900 RCV000251824 SCV000309351;SCV000514629 249764 SKI NM_003036.3:c.1211+19C>T NM_003036.3:c.1211+19C>T:intron variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2017-07-08 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2017-07-08 1 2303832 C T 2303832 2303832 + Variant 213671 RCV000199440 SCV000309352;SCV000250654 209468 SKI NM_003036.3:c.1212-8C>T NM_003036.3:c.1212-8C>T:intron variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2015-04-15 PreventionGenetics;GeneDx GeneDx;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2015-04-15;0000-00-00 -1 2303832 C T 2303832 2303832 + Variant 213671 RCV000415889 SCV000493144 209468 SKI NM_003036.3:c.1212-8C>T NM_003036.3:c.1212-8C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-31 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2016-08-31 +1 2303832 C T 2303832 2303832 + Variant 213671 RCV000415889 SCV000493144 209468 SKI NM_003036.3:c.1212-8C>T NM_003036.3:c.1212-8C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-31 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2016-08-31 +1 2303832 C T 2303832 2303832 + Variant 213671 RCV000546304 SCV000637276 209468 SKI NM_003036.3:c.1212-8C>T NM_003036.3:c.1212-8C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-15 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-15 1 2303871 G A 2303871 2303871 + Variant 222821 RCV000208100 SCV000264226 224192 SKI NM_003036.3:c.1243G>A NP_003027.1:p.Val415Met NM_003036.3:c.1243G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-01 Blueprint Genetics Blueprint Genetics Marfanoid habitus germline MedGen:C1839796 2015-04-01 1 2303875 C T 2303875 2303875 + Variant 213693 RCV000197794 SCV000250679 209469 SKI NM_003036.3:c.1247C>T NP_003027.1:p.Ala416Val NM_003036.3:c.1247C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-02 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-02 1 2303882 C T 2303882 2303882 + Variant 392009 RCV000441456 SCV000535200 364908 SKI NM_003036.3:c.1254C>T NP_003027.1:p.Asn418= NM_003036.3:c.1254C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-21 -1 2303886 G A 2303886 2303886 + Variant 220793 RCV000205977 SCV000261638 221089 SKI NM_003036.3:c.1258G>A NP_003027.1:p.Ala420Thr NM_003036.3:c.1258G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-10-28 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-10-28 +1 2303882 C T 2303882 2303882 + Variant 392009 RCV000558563 SCV000637277 364908 SKI NM_003036.3:c.1254C>T NP_003027.1:p.Asn418= NM_003036.3:c.1254C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-20 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-20 +1 2303886 G A 2303886 2303886 + Variant 220793 RCV000205977 SCV000261638 221089 SKI NM_003036.3:c.1258G>A NP_003027.1:p.Ala420Thr NM_003036.3:c.1258G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-28 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-28 1 2303886 G A 2303886 2303886 + Variant 220793 RCV000507645 SCV000605111 221089 SKI NM_003036.3:c.1258G>A NP_003027.1:p.Ala420Thr NM_003036.3:c.1258G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-09-13 ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories, Molecular Genetics and Genomics not specified germline MedGen:CN169374 2016-09-13 1 2303891 C T 2303891 2303891 + Variant 263904 RCV000252813 SCV000319412 257947 SKI NM_003036.3:c.1263C>T NP_003027.1:p.Leu421= NM_003036.3:c.1263C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-02-04 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-02-04 -1 2303892 G A 2303892 2303892 + Variant 213707 RCV000196970 SCV000250693 209470 SKI NM_003036.3:c.1264G>A NP_003027.1:p.Ala422Thr NM_003036.3:c.1264G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2014-10-20 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-10-20 +1 2303892 G A 2303892 2303892 + Variant 213707 RCV000196970 SCV000250693 209470 SKI NM_003036.3:c.1264G>A NP_003027.1:p.Ala422Thr NM_003036.3:c.1264G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-11 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-11 1 2303897 G A 2303897 2303897 + Variant 387432 RCV000431107 SCV000529477 364724 SKI NM_003036.3:c.1269G>A NP_003027.1:p.Pro423= NM_003036.3:c.1269G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-12 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-12 1 2303899 C T 2303899 2303899 + Variant 423663 RCV000486959 SCV000573384 405082 SKI NM_003036.3:c.1271C>T NP_003027.1:p.Pro424Leu NM_003036.3:c.1271C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-23 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-23 +1 2303899 C T 2303899 2303899 + Variant 423663 RCV000537023 SCV000637278 405082 SKI NM_003036.3:c.1271C>T NP_003027.1:p.Pro424Leu NM_003036.3:c.1271C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-13 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-13 +1 2303922 A G 2303922 2303922 + Variant 449989 RCV000521311 SCV000618510 442736 SKI NM_003036.3:c.1294A>G NP_003027.1:p.Ser432Gly NM_003036.3:c.1294A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-01 1 2303929 C T 2303929 2303929 + Variant 213694 RCV000200090 SCV000250680 209471 SKI NM_003036.3:c.1301C>T NP_003027.1:p.Pro434Leu NM_003036.3:c.1301C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-03-09 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-03-09 1 2303937 G A 2303937 2303937 + Variant 263895 RCV000251995 SCV000319389 257946 SKI NM_003036.3:c.1309G>A NP_003027.1:p.Ala437Thr NM_003036.3:c.1309G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-10-29 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-10-29 -1 2303937 G A 2303937 2303937 + Variant 263895 RCV000474123 SCV000550377 257946 SKI NM_003036.3:c.1309G>A NP_003027.1:p.Ala437Thr NM_003036.3:c.1309G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-11 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-11 -1 2303939 C G 2303939 2303939 + Variant 227946 RCV000221218 SCV000514630;SCV000270846 228357 SKI NM_003036.3:c.1311C>G NP_003027.1:p.Ala437= NM_003036.3:c.1311C>G:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-21 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-08-11;2016-09-21 -1 2303939 C G 2303939 2303939 + Variant 227946 RCV000462719 SCV000560932 228357 SKI NM_003036.3:c.1311C>G NP_003027.1:p.Ala437= NM_003036.3:c.1311C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-09 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-09 +1 2303937 G A 2303937 2303937 + Variant 263895 RCV000474123 SCV000550377 257946 SKI NM_003036.3:c.1309G>A NP_003027.1:p.Ala437Thr NM_003036.3:c.1309G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-17 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-02-17 +1 2303937 G A 2303937 2303937 + Variant 263895 RCV000520591 SCV000620001 257946 SKI NM_003036.3:c.1309G>A NP_003027.1:p.Ala437Thr NM_003036.3:c.1309G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-11 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-11 +1 2303939 C G 2303939 2303939 + Variant 227946 RCV000221218 SCV000514630;SCV000270846 228357 SKI NM_003036.3:c.1311C>G NP_003027.1:p.Ala437= NM_003036.3:c.1311C>G:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2017-08-15 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-08-11;2017-08-15 +1 2303939 C G 2303939 2303939 + Variant 227946 RCV000462719 SCV000560932 228357 SKI NM_003036.3:c.1311C>G NP_003027.1:p.Ala437= NM_003036.3:c.1311C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-30 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-30 1 2303939 C T 2303939 2303939 + Variant 139114 RCV000128048 SCV000309353;SCV000605110;SCV000171639;SCV000336133 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign benign;benign;benign;benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-06 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx GeneDx;PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 2014-05-27;0000-00-00;2015-10-14;2016-01-06 -1 2303939 C T 2303939 2303939 + Variant 139114 RCV000229389 SCV000287833 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-10 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-10 +1 2303939 C T 2303939 2303939 + Variant 139114 RCV000229389 SCV000287833 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-26 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-26 1 2303939 C T 2303939 2303939 + Variant 139114 RCV000249261 SCV000319411 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-02-06 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-02-06 -1 2303943 G A 2303943 2303943 + Variant 409971 RCV000457275 SCV000550375 391083 SKI NM_003036.3:c.1315G>A NP_003027.1:p.Val439Ile NM_003036.3:c.1315G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-08 +1 2303943 G A 2303943 2303943 + Variant 409971 RCV000457275 SCV000550375 391083 SKI NM_003036.3:c.1315G>A NP_003027.1:p.Val439Ile NM_003036.3:c.1315G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-08 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-08 1 2303957 C T 2303957 2303957 + Variant 385791 RCV000429448 SCV000527181 364938 SKI NM_003036.3:c.1329C>T NP_003027.1:p.Pro443= NM_003036.3:c.1329C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-04-29 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-04-29 1 2303966 C T 2303966 2303966 + Variant 213672 RCV000195511 SCV000250655 209472 SKI NM_003036.3:c.1338C>T NP_003027.1:p.Leu446= NM_003036.3:c.1338C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-06-18 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-06-18 -1 2304012 C G 2304012 2304012 + Variant 409974 RCV000467693 SCV000550379 390989 SKI NM_003036.3:c.1384C>G NP_003027.1:p.Pro462Ala NM_003036.3:c.1384C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-01 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-04-01 +1 2304012 C G 2304012 2304012 + Variant 409974 RCV000467693 SCV000550379 390989 SKI NM_003036.3:c.1384C>G NP_003027.1:p.Pro462Ala NM_003036.3:c.1384C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-07-14 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-14 1 2304038 C T 2304038 2304038 + Variant 213673 RCV000197717 SCV000250656 209473 SKI NM_003036.3:c.1410C>T NP_003027.1:p.Pro470= NM_003036.3:c.1410C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-06-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-06-22 -1 2304038 C T 2304038 2304038 + Variant 213673 RCV000458443 SCV000560937 209473 SKI NM_003036.3:c.1410C>T NP_003027.1:p.Pro470= NM_003036.3:c.1410C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-11-13 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-13 +1 2304038 C T 2304038 2304038 + Variant 213673 RCV000458443 SCV000560937 209473 SKI NM_003036.3:c.1410C>T NP_003027.1:p.Pro470= NM_003036.3:c.1410C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-07-31 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-31 1 2304048 C G 2304048 2304048 + Variant 373583 RCV000413715 SCV000492188 359238 SKI NM_003036.3:c.1420C>G NP_003027.1:p.Pro474Ala NM_003036.3:c.1420C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-06 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-06 +1 2304049 C T 2304049 2304049 + Variant 451213 RCV000521240 SCV000619881 442737 SKI NM_003036.3:c.1421C>T NP_003027.1:p.Pro474Leu NM_003036.3:c.1421C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-08 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-08 +1 2304073 C T 2304073 2304073 + Variant 451641 RCV000519637 SCV000620364 442738 SKI NM_003036.3:c.1445C>T NP_003027.1:p.Ala482Val NM_003036.3:c.1445C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-29 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-29 +1 2304073 CG C 2304075 2304075 + Variant 450070 RCV000520789 SCV000618607 442739 SKI NM_003036.3:c.1447delG NP_003027.1:p.Glu483Argfs NM_003036.3:c.1447delG:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-27 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-27 1 2304074 G A 2304074 2304074 + Variant 139115 RCV000178187 SCV000171640;SCV000605115;SCV000309354;SCV000230202 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Benign benign;benign;benign;benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-01-08 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-05-29;2015-01-13;0000-00-00;2016-01-08 -1 2304074 G A 2304074 2304074 + Variant 139115 RCV000233299 SCV000287834 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-25 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-25 -1 2304074 G A 2304074 2304074 + Variant 139115 RCV000249175 SCV000319431 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-02-16 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-02-16 +1 2304074 G A 2304074 2304074 + Variant 139115 RCV000233299 SCV000287834 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-08-03 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-08-03 +1 2304074 G A 2304074 2304074 + Variant 139115 RCV000249175 SCV000319431 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-12-15 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2016-12-15 1 2304084 G A 2304084 2304084 + Variant 229252 RCV000218491 SCV000272435 228358 SKI NM_003036.3:c.1456G>A NP_003027.1:p.Val486Ile NM_003036.3:c.1456G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-08-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-08-11 +1 2304084 G A 2304084 2304084 + Variant 229252 RCV000535528 SCV000637281 228358 SKI NM_003036.3:c.1456G>A NP_003027.1:p.Val486Ile NM_003036.3:c.1456G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-18 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-18 1 2304298 T A 2304298 2304298 + Variant 373745 RCV000414146 SCV000492366 359326 SKI NM_003036.3:c.1480T>A NP_003027.1:p.Ser494Thr NM_003036.3:c.1480T>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-12 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-12 -1 2304298 T A 2304298 2304298 + Variant 373745 RCV000460773 SCV000550381 359326 SKI NM_003036.3:c.1480T>A NP_003027.1:p.Ser494Thr NM_003036.3:c.1480T>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-18 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-18 -1 2304323 C T 2304323 2304323 + Variant 377202 RCV000442707 SCV000511479 364080 SKI NM_003036.3:c.1505C>T NP_003027.1:p.Pro502Leu NM_003036.3:c.1505C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-21 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-11-21-06:00 +1 2304298 T A 2304298 2304298 + Variant 373745 RCV000460773 SCV000550381 359326 SKI NM_003036.3:c.1480T>A NP_003027.1:p.Ser494Thr NM_003036.3:c.1480T>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-18 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-18 +1 2304323 C T 2304323 2304323 + Variant 377202 RCV000442707 SCV000511479 364080 SKI NM_003036.3:c.1505C>T NP_003027.1:p.Pro502Leu NM_003036.3:c.1505C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-21 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2016-11-21 1 2304345 C T 2304345 2304345 + Variant 213674 RCV000199331 SCV000605117;SCV000250657;SCV000269828 209474 SKI NM_003036.3:c.1527C>T NP_003027.1:p.Ser509= NM_003036.3:c.1527C>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-12-19 ARUP Laboratories, Molecular Genetics and Genomics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;Not specified 24033266 germline MedGen:CN169374 2014-09-11;2015-02-20;2016-12-19 -1 2304345 C T 2304345 2304345 + Variant 213674 RCV000245139 SCV000319439 209474 SKI NM_003036.3:c.1527C>T NP_003027.1:p.Ser509= NM_003036.3:c.1527C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-02-24 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-02-24 +1 2304345 C T 2304345 2304345 + Variant 213674 RCV000245139 SCV000319439 209474 SKI NM_003036.3:c.1527C>T NP_003027.1:p.Ser509= NM_003036.3:c.1527C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-02-24 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 19112531;20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-02-24 +1 2304345 C T 2304345 2304345 + Variant 213674 RCV000550404 SCV000637282 209474 SKI NM_003036.3:c.1527C>T NP_003027.1:p.Ser509= NM_003036.3:c.1527C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-04-03 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-03 1 2304346 G A 2304346 2304346 + Variant 213695 RCV000195482 SCV000250681 209475 SKI NM_003036.3:c.1528G>A NP_003027.1:p.Ala510Thr NM_003036.3:c.1528G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-03-26 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-03-26 +1 2304366 G A 2304366 2304366 + Variant 463396 RCV000528551 SCV000637283 447788 SKI NM_003036.3:c.1548G>A NP_003027.1:p.Pro516= NM_003036.3:c.1548G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-26 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-26 1 2304373 C T 2304373 2304373 + Variant 213696 RCV000197672 SCV000250682 209476 SKI NM_003036.3:c.1555C>T NP_003027.1:p.Arg519Cys NM_003036.3:c.1555C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2014-09-11 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-09-11 1 2304374 G A 2304374 2304374 + Variant 213675 RCV000196080 SCV000250658 209477 SKI NM_003036.3:c.1556G>A NP_003027.1:p.Arg519His NM_003036.3:c.1556G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2014-12-04 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-12-04 1 2304386 C T 2304386 2304386 + Variant 180522 RCV000157499 SCV000207244 178441 SKI NM_003036.3:c.1568C>T NP_003027.1:p.Ser523Leu NM_003036.3:c.1568C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2014-10-06 Blueprint Genetics Blueprint Genetics Arterial dissection;Arterial dissection germline Human Phenotype Ontology:HP:0005294;MedGen:C0002949;MedGen:CN004695 2014-10-06 +1 2304386 C T 2304386 2304386 + Variant 180522 RCV000538872 SCV000637284 178441 SKI NM_003036.3:c.1568C>T NP_003027.1:p.Ser523Leu NM_003036.3:c.1568C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-07 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-07 1 2304391 G A 2304391 2304391 + Variant 213676 RCV000197599 SCV000250659 209478 SKI NM_003036.3:c.1573G>A NP_003027.1:p.Val525Ile NM_003036.3:c.1573G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-07-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-07-17 1 2304398 ATGC A 2304402 2304404 + Variant 213704 RCV000197075 SCV000250690 209479 SKI NM_003036.3:c.1584_1586delTGC NP_003027.1:p.Ala530del NM_003036.3:c.1584_1586delTGC:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-05-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-05-05 1 2304411 T C 2304411 2304411 + Variant 213677 RCV000199803 SCV000309355;SCV000250660 209480 SKI NM_003036.3:c.1593T>C NP_003027.1:p.Pro531= NM_003036.3:c.1593T>C:synonymous variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2015-07-01 PreventionGenetics;GeneDx GeneDx;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2015-07-01;0000-00-00 -1 2304411 T C 2304411 2304411 + Variant 213677 RCV000466338 SCV000560935 209480 SKI NM_003036.3:c.1593T>C NP_003027.1:p.Pro531= NM_003036.3:c.1593T>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-08 +1 2304411 T C 2304411 2304411 + Variant 213677 RCV000466338 SCV000560935 209480 SKI NM_003036.3:c.1593T>C NP_003027.1:p.Pro531= NM_003036.3:c.1593T>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-07-25 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-25 1 2304437 C T 2304437 2304437 + Variant 213697 RCV000199881 SCV000250683 209481 SKI NM_003036.3:c.1619C>T NP_003027.1:p.Ala540Val NM_003036.3:c.1619C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-22 -1 2304438 G A 2304438 2304438 + Variant 415898 RCV000456827 SCV000560934 390993 SKI NM_003036.3:c.1620G>A NP_003027.1:p.Ala540= NM_003036.3:c.1620G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-26 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-26 +1 2304437 C T 2304437 2304437 + Variant 213697 RCV000548962 SCV000637285 209481 SKI NM_003036.3:c.1619C>T NP_003027.1:p.Ala540Val NM_003036.3:c.1619C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-06 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-06 +1 2304438 G A 2304438 2304438 + Variant 415898 RCV000456827 SCV000560934 390993 SKI NM_003036.3:c.1620G>A NP_003027.1:p.Ala540= NM_003036.3:c.1620G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-26 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-26 1 2304450 C T 2304450 2304450 + Variant 213678 RCV000196639 SCV000250661 209482 SKI NM_003036.3:c.1632C>T NP_003027.1:p.His544= NM_003036.3:c.1632C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2014-07-31 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-07-31 1 2304518 T C 2304518 2304518 + Variant 426770 RCV000489520 SCV000577301 414774 SKI NM_003036.3:c.1700T>C NP_003027.1:p.Val567Ala NM_003036.3:c.1700T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-05 -1 2304552 C T 2304552 2304552 + Variant 415897 RCV000472195 SCV000560933 391073 SKI NM_003036.3:c.1734C>T NP_003027.1:p.Ser578= NM_003036.3:c.1734C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-05-15 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-15 +1 2304552 C T 2304552 2304552 + Variant 415897 RCV000472195 SCV000560933 391073 SKI NM_003036.3:c.1734C>T NP_003027.1:p.Ser578= NM_003036.3:c.1734C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-05-15 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-15 1 2304557 C T 2304557 2304557 + Variant 432018 RCV000498763 SCV000589685 425342 SKI NM_003036.3:c.1739C>T NP_003027.1:p.Ala580Val NM_003036.3:c.1739C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-16 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-16 -1 2304591 C T 2304591 2304591 + Variant 239476 RCV000227068 SCV000287835 238217 SKI NM_003036.3:c.1767+6C>T NM_003036.3:c.1767+6C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-21 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-21 +1 2304591 C T 2304591 2304591 + Variant 239476 RCV000227068 SCV000287835 238217 SKI NM_003036.3:c.1767+6C>T NM_003036.3:c.1767+6C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-21 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-21 1 2306038 G T 2306038 2306038 + Variant 393207 RCV000442849 SCV000536583 364914 SKI NM_003036.3:c.1786G>T NP_003027.1:p.Val596Leu NM_003036.3:c.1786G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-03 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-03 1 2306086 C T 2306086 2306086 + Variant 139116 RCV000179418 SCV000171641;SCV000309356;SCV000269829;SCV000231664 142819 SKI NM_003036.3:c.1834C>T NP_003027.1:p.Leu612= NM_003036.3:c.1834C>T:synonymous variant Benign benign;benign;benign;benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2015-06-08 PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics not specified;not specified;not specified;Not specified;NOT SPECIFIED 24033266;25741868 germline MedGen:CN169374 2014-05-29;2015-06-08;2015-02-20;0000-00-00 -1 2306086 C T 2306086 2306086 + Variant 139116 RCV000230962 SCV000287836 142819 SKI NM_003036.3:c.1834C>T NP_003027.1:p.Leu612= NM_003036.3:c.1834C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-15 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-15 +1 2306086 C T 2306086 2306086 + Variant 139116 RCV000230962 SCV000287836 142819 SKI NM_003036.3:c.1834C>T NP_003027.1:p.Leu612= NM_003036.3:c.1834C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-05 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-05 1 2306086 C T 2306086 2306086 + Variant 139116 RCV000243796 SCV000319390 142819 SKI NM_003036.3:c.1834C>T NP_003027.1:p.Leu612= NM_003036.3:c.1834C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-03-04 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-03-04 +1 2306100 C A 2306100 2306100 + Variant 463398 RCV000541947 SCV000637287 447852 SKI NM_003036.3:c.1848C>A NP_003027.1:p.Ile616= NM_003036.3:c.1848C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-15 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-15 +1 2306100 C G 2306100 2306100 + Variant 463399 RCV000552281 SCV000637288 447789 SKI NM_003036.3:c.1848C>G NP_003027.1:p.Ile616Met NM_003036.3:c.1848C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-02 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-02 1 2306103 G A 2306103 2306103 + Variant 198156 RCV000179419 SCV000231665 195317 SKI NM_003036.3:c.1851G>A NP_003027.1:p.Glu617= NM_003036.3:c.1851G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-04-02 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-04-02 -1 2306103 G A 2306103 2306103 + Variant 198156 RCV000473994 SCV000560922 195317 SKI NM_003036.3:c.1851G>A NP_003027.1:p.Glu617= NM_003036.3:c.1851G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-08 -1 2306112 C T 2306112 2306112 + Variant 415894 RCV000468377 SCV000560927 390971 SKI NM_003036.3:c.1860C>T NP_003027.1:p.Arg620= NM_003036.3:c.1860C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-24 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-24 +1 2306103 G A 2306103 2306103 + Variant 198156 RCV000473994 SCV000560922 195317 SKI NM_003036.3:c.1851G>A NP_003027.1:p.Glu617= NM_003036.3:c.1851G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-16 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-16 +1 2306112 C T 2306112 2306112 + Variant 415894 RCV000468377 SCV000560927 390971 SKI NM_003036.3:c.1860C>T NP_003027.1:p.Arg620= NM_003036.3:c.1860C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-24 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-24 1 2306115 C T 2306115 2306115 + Variant 384451 RCV000430401 SCV000525272 364920 SKI NM_003036.3:c.1863C>T NP_003027.1:p.Ala621= NM_003036.3:c.1863C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-01 1 2306122 GAGA G 2306129 2306131 + Variant 213705 RCV000198612 SCV000250691 209485 SKI NM_003036.3:c.1877_1879delAGA NP_003027.1:p.Lys626del NM_003036.3:c.1877_1879delAGA:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-05-06 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-05-06 1 2306129 A T 2306129 2306129 + Variant 213698 RCV000196715 SCV000250684 209484 SKI NM_003036.3:c.1877A>T NP_003027.1:p.Lys626Met NM_003036.3:c.1877A>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-04-21 -1 2306139 G A 2306139 2306139 + Variant 415893 RCV000476076 SCV000560925 391086 SKI NM_003036.3:c.1887G>A NP_003027.1:p.Glu629= NM_003036.3:c.1887G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-09 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-09 +1 2306139 G A 2306139 2306139 + Variant 415893 RCV000476076 SCV000560925 391086 SKI NM_003036.3:c.1887G>A NP_003027.1:p.Glu629= NM_003036.3:c.1887G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-09 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-09 1 2306142 C T 2306142 2306142 + Variant 198155 RCV000246302 SCV000231662;SCV000309358 195316 SKI NM_003036.3:c.1890C>T NP_003027.1:p.Ala630= NM_003036.3:c.1890C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2014-11-12 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-11-12;0000-00-00 +1 2306142 C T 2306142 2306142 + Variant 198155 RCV000525874 SCV000637289 195316 SKI NM_003036.3:c.1890C>T NP_003027.1:p.Ala630= NM_003036.3:c.1890C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-05-25 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-25 1 2306184 G A 2306184 2306184 + Variant 383505 RCV000419527 SCV000523917 364733 SKI NM_003036.3:c.1932G>A NP_003027.1:p.Ala644= NM_003036.3:c.1932G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-02-09 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-02-09 -1 2306223 C T 2306223 2306223 + Variant 239477 RCV000233767 SCV000287837 238218 SKI NM_003036.3:c.1971C>T NP_003027.1:p.Gly657= NM_003036.3:c.1971C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-12-25 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-25 +1 2306187 G T 2306187 2306187 + Variant 463400 RCV000540734 SCV000637290 447792 SKI NM_003036.3:c.1935G>T NP_003027.1:p.Arg645= NM_003036.3:c.1935G>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-21 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-21 +1 2306194 C G 2306194 2306194 + Variant 463401 RCV000555329 SCV000637291 447532 SKI NM_003036.3:c.1942C>G NP_003027.1:p.Arg648Gly NM_003036.3:c.1942C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-29 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-29 +1 2306219 C T 2306219 2306219 + Variant 463402 RCV000531234 SCV000637292 447682 SKI NM_003036.3:c.1967C>T NP_003027.1:p.Ala656Val NM_003036.3:c.1967C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-30 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-30 +1 2306223 C T 2306223 2306223 + Variant 239477 RCV000233767 SCV000287837 238218 SKI NM_003036.3:c.1971C>T NP_003027.1:p.Gly657= NM_003036.3:c.1971C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-12-25 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-25 1 2306226 C T 2306226 2306226 + Variant 139117 RCV000179417 SCV000231663;SCV000309359;SCV000171642 142820 SKI NM_003036.3:c.1974C>T NP_003027.1:p.Arg658= NM_003036.3:c.1974C>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2014-10-07 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics not specified;not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-06-05;2014-10-07;0000-00-00 -1 2306226 C T 2306226 2306226 + Variant 139117 RCV000227524 SCV000287838 142820 SKI NM_003036.3:c.1974C>T NP_003027.1:p.Arg658= NM_003036.3:c.1974C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-18 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-18 -1 2306235 C T 2306235 2306235 + Variant 415895 RCV000475416 SCV000560928 390995 SKI NM_003036.3:c.1983C>T NP_003027.1:p.Ala661= NM_003036.3:c.1983C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 +1 2306226 C T 2306226 2306226 + Variant 139117 RCV000227524 SCV000287838 142820 SKI NM_003036.3:c.1974C>T NP_003027.1:p.Arg658= NM_003036.3:c.1974C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-05-13 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-13 +1 2306228 T G 2306228 2306228 + Variant 449665 RCV000520058 SCV000617994 442740 SKI NM_003036.3:c.1976T>G NP_003027.1:p.Leu659Arg NM_003036.3:c.1976T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-30 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-30 +1 2306235 C T 2306235 2306235 + Variant 415895 RCV000475416 SCV000560928 390995 SKI NM_003036.3:c.1983C>T NP_003027.1:p.Ala661= NM_003036.3:c.1983C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-08 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 1 2306561 C T 2306561 2306561 + Variant 388616 RCV000444316 SCV000530961 364745 SKI NM_003036.3:c.1999-16C>T NM_003036.3:c.1999-16C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-08-12 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-08-12 +1 2306568 C G 2306568 2306568 + Variant 463403 RCV000546111 SCV000637293 447533 SKI NM_003036.3:c.1999-9C>G NM_003036.3:c.1999-9C>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-16 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-16 1 2306585 C G 2306585 2306585 + Variant 213699 RCV000198240 SCV000250685 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-03-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-22 -1 2306585 C G 2306585 2306585 + Variant 213699 RCV000230294 SCV000287839 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-25 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-01-25 -1 2306585 C G 2306585 2306585 + Variant 213699 RCV000243311 SCV000320452 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-10-13 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-10-13 +1 2306585 C G 2306585 2306585 + Variant 213699 RCV000230294 SCV000287839 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-28 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-28 +1 2306585 C G 2306585 2306585 + Variant 213699 RCV000243311 SCV000320452 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-10-13 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340;25519456 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-10-13 1 2306585 C T 2306585 2306585 + Variant 432935 RCV000498915 SCV000590713 425343 SKI NM_003036.3:c.2007C>T NP_003027.1:p.Asp669= NM_003036.3:c.2007C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-26 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-26 -1 2306587 T G 2306587 2306587 + Variant 409975 RCV000473086 SCV000550380 390973 SKI NM_003036.3:c.2009T>G NP_003027.1:p.Leu670Arg NM_003036.3:c.2009T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-08 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 -1 2306591 G A 2306591 2306591 + Variant 415892 RCV000460660 SCV000560923 391089 SKI NM_003036.3:c.2013G>A NP_003027.1:p.Gln671= NM_003036.3:c.2013G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-22 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-07-22 +1 2306587 T G 2306587 2306587 + Variant 409975 RCV000473086 SCV000550380 390973 SKI NM_003036.3:c.2009T>G NP_003027.1:p.Leu670Arg NM_003036.3:c.2009T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-08 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 +1 2306591 G A 2306591 2306591 + Variant 415892 RCV000460660 SCV000560923 391089 SKI NM_003036.3:c.2013G>A NP_003027.1:p.Gln671= NM_003036.3:c.2013G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-22 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-07-22 +1 2306606 C G 2306606 2306606 + Variant 463404 RCV000556095 SCV000637294 447795 SKI NM_003036.3:c.2028C>G NP_003027.1:p.His676Gln NM_003036.3:c.2028C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-05 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-05 +1 2306630 G T 2306630 2306630 + Variant 463405 RCV000530007 SCV000637295 447796 SKI NM_003036.3:c.2052G>T NP_003027.1:p.Leu684= NM_003036.3:c.2052G>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-02-13 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-02-13 1 2306634 G A 2306634 2306634 + Variant 213709 RCV000195941 SCV000250695 209487 SKI NM_003036.3:c.2056G>A NP_003027.1:p.Ala686Thr NM_003036.3:c.2056G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2014-12-01 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-12-01 +1 2306639 C A 2306639 2306639 + Variant 463406 RCV000544643 SCV000637296 447853 SKI NM_003036.3:c.2061C>A NP_003027.1:p.Asp687Glu NM_003036.3:c.2061C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-01 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-01 1 2306642 G C 2306642 2306642 + Variant 386021 RCV000425793 SCV000527527 364756 SKI NM_003036.3:c.2064G>C NP_003027.1:p.Leu688= NM_003036.3:c.2064G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-05-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-05 1 2306706 T C 2306706 2306706 + Variant 213710 RCV000196830 SCV000250696 209488 SKI NM_003036.3:c.2128T>C NP_003027.1:p.Trp710Arg NM_003036.3:c.2128T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-20 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-01-20 +1 2306718 C T 2306718 2306718 + Variant 451473 RCV000522009 SCV000620179 442741 SKI NM_003036.3:c.2140C>T NP_003027.1:p.Arg714Cys NM_003036.3:c.2140C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-08-16 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-16 1 2306719 G A 2306719 2306719 + Variant 213679 RCV000197481 SCV000250662 209489 SKI NM_003036.3:c.2141G>A NP_003027.1:p.Arg714His NM_003036.3:c.2141G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2014-07-23 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-07-23 1 2306731 C G 2306731 2306731 + Variant 213680 RCV000199684 SCV000250663 209490 SKI NM_003036.3:c.2153C>G NP_003027.1:p.Ala718Gly NM_003036.3:c.2153C>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2014-08-11 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-08-11 +1 2306743 G T 2306743 2306743 + Variant 463407 RCV000559446 SCV000637297 447797 SKI NM_003036.3:c.2165G>T NP_003027.1:p.Gly722Val NM_003036.3:c.2165G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-06 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-06 1 2306749 C T 2306749 2306749 + Variant 440269 RCV000507977 SCV000605114 433915 SKI NM_003036.3:c.2171C>T NP_003027.1:p.Ala724Val NM_003036.3:c.2171C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-04 ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories, Molecular Genetics and Genomics not specified germline MedGen:CN169374 2016-10-04 -1 2306752 A C 2306752 2306752 + Variant 213700 RCV000199766 SCV000250686 209491 SKI NM_003036.3:c.2174A>C NP_003027.1:p.Glu725Ala NM_003036.3:c.2174A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-27 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-04-27 +1 2306752 A C 2306752 2306752 + Variant 213700 RCV000199766 SCV000250686 209491 SKI NM_003036.3:c.2174A>C NP_003027.1:p.Glu725Ala NM_003036.3:c.2174A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-10-31 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-31 +1 2306752 A C 2306752 2306752 + Variant 213700 RCV000537625 SCV000637298 209491 SKI NM_003036.3:c.2174A>C NP_003027.1:p.Glu725Ala NM_003036.3:c.2174A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-14 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-14 1 2306761 C T 2306761 2306761 + Variant 213701 RCV000196525 SCV000250687 209492 SKI NM_003036.3:c.2183C>T NP_003027.1:p.Pro728Leu NM_003036.3:c.2183C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-03-08 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-03-08 1 2306762 G C 2306762 2306762 + Variant 386048 RCV000429161 SCV000527559 364924 SKI NM_003036.3:c.2184G>C NP_003027.1:p.Pro728= NM_003036.3:c.2184G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-29 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-29 -1 2306762 G C 2306762 2306762 + Variant 386048 RCV000474716 SCV000560936 364924 SKI NM_003036.3:c.2184G>C NP_003027.1:p.Pro728= NM_003036.3:c.2184G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-01 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-01 +1 2306762 G C 2306762 2306762 + Variant 386048 RCV000474716 SCV000560936 364924 SKI NM_003036.3:c.2184G>C NP_003027.1:p.Pro728= NM_003036.3:c.2184G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-01 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-01 1 2306765 GATT G 2306766 2306768 + Variant 222822 RCV000208246 SCV000264227 224193 SKI NM_003036.3:c.*1_*3delATT NM_003036.3:c.*1_*3delATT:3 prime UTR variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-06-01 Blueprint Genetics Blueprint Genetics Marfanoid habitus germline MedGen:C1839796 2015-06-01 1 2306782 C T 2306782 2306782 + Variant 383970 RCV000425474 SCV000524596 364926 SKI NM_003036.3:c.*17C>T Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-02-07 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-07 1 2404912 C T 2404912 2404912 - Variant 296252 RCV000386642 SCV000355579 281775 PEX10 NM_153818.1:c.*854G>A NM_153818.1:c.*854G>A:3 prime UTR variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 @@ -476,6 +702,7 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 2406561 C A 2406561 2406561 - Variant 282334 RCV000289565 SCV000333750 266571 PEX10 NM_153818.1:c.895G>T NP_722540.1:p.Glu299Ter NM_153818.1:c.895G>T:nonsense Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-08-12 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Peroxisome biogenesis disorder 6A germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 2015-08-12 1 2406566 A G 2406566 2406566 - Variant 162432 RCV000149810 SCV000196634 172123 PEX10 NM_153818.1:c.890T>C NP_722540.1:p.Leu297Pro NM_153818.1:c.890T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-02-01 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 19127411;6 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2009-02-01 1 2406576 T C 2406576 2406576 - Variant 197887 RCV000179027 SCV000231216;SCV000540015;SCV000316395 195048 PEX10 NM_153818.1:c.880A>G NP_722540.1:p.Thr294Ala NM_153818.1:c.880A>G:missense variant Conflicting interpretations of pathogenicity benign;benign;likely benign 0 0 0 1 2 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter 2016-03-29 PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified;NOT SPECIFIED;not specified 24033266;25741868 germline MedGen:CN169374 2014-11-23;0000-00-00;2016-03-29 +1 2406576 T C 2406576 2406576 - Variant 197887 RCV000538777 SCV000644952 195048 PEX10 NM_153818.1:c.880A>G NP_722540.1:p.Thr294Ala NM_153818.1:c.880A>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-06-09 Invitae Invitae Peroxisome biogenesis disorder, complementation group 7 28492532 germline MedGen:C1864399;OMIM:614870 2017-06-09 1 2406580 C A 2406580 2406580 - Variant 289743 RCV000264178 SCV000344149 273980 PEX10 NM_153818.1:c.876G>T NP_722540.1:p.Leu292= NM_153818.1:c.876G>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-27 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-27 1 2406580 CAG C 2406581 2406582 - Variant 296273 RCV000337969 SCV000355604 281791 PEX10 NM_153818.1:c.874_875delCT NP_722540.1:p.Leu292Valfs NM_153818.1:c.874_875delCT:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 10862081;12794690;19142205;20301621;21031596;22871920;27230853;9700193 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2406580 CAG C 2406581 2406582 - Variant 296273 RCV000409050 SCV000487552 281791 PEX10 NM_153818.1:c.874_875delCT NP_722540.1:p.Leu292Valfs NM_153818.1:c.874_875delCT:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-16 Counsyl Counsyl Peroxisome biogenesis disorder 6B 12794690 unknown MedGen:C3553948;OMIM:614871;Orphanet:44 2016-08-16 @@ -483,7 +710,7 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 2406584 G A 2406584 2406584 - Variant 289191 RCV000281616 SCV000343505 273428 PEX10 NM_153818.1:c.872C>T NP_722540.1:p.Pro291Leu NM_153818.1:c.872C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-30 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-06-30 1 2406585 G T 2406585 2406585 - Variant 286993 RCV000388149 SCV000340616 271230 PEX10 NM_153818.1:c.871C>A NP_722540.1:p.Pro291Thr NM_153818.1:c.871C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-05 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-04-05 1 2406712 G A 2406712 2406712 - Variant 296274 RCV000400274 SCV000355605 280483 PEX10 NM_153818.1:c.836+8C>T NM_153818.1:c.836+8C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 -1 2406719 C G 2406719 2406719 - Variant 225040 RCV000210672 SCV000262930 226879 PEX10 NM_153818.1:c.836+1G>C NM_153818.1:c.836+1G>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 Ambry Genetics Ambry Genetics Inborn genetic diseases;MR/ID/DD;Allergy/Immunologic/Infectious (child onset);Hematologic (child onset);Renal (child onset) 22947299;23037933;23169492;23619275;23652378;23881473;24022298;24121147;24394680;25356970;25560141;25626707;25730230 germline MeSH:D030342;MedGen:C0950123 0000-00-00 +1 2406719 C G 2406719 2406719 - Variant 225040 RCV000210672 SCV000262930 226879 PEX10 NM_153818.1:c.836+1G>C NM_153818.1:c.836+1G>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2012-08-30 Ambry Genetics Ambry Genetics Inborn genetic diseases;Inborn genetic diseases 22947299;23037933;23169492;23619275;23652378;23881473;24022298;24121147;24394680;25560141;25626707;25730230 germline MeSH:D030342;MedGen:C0950123 2012-08-30 1 2406723 C T 2406723 2406723 - Variant 290110 RCV000268088 SCV000344607 274347 PEX10 NM_153818.1:c.833G>A NP_722540.1:p.Arg278His NM_153818.1:c.833G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-31 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-31 1 2406736 C T 2406736 2406736 - Variant 296275 RCV000297739 SCV000355606 281804 PEX10 NM_153818.1:c.820G>A NP_722540.1:p.Gly274Ser NM_153818.1:c.820G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2406766 G A 2406766 2406766 - Variant 162435 RCV000149813 SCV000196637 172126 PEX10 NM_153818.1:c.790C>T NP_722540.1:p.Arg264Ter NM_153818.1:c.790C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-01 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 20695019 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2010-08-01 @@ -491,22 +718,25 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 2406785 G A 2406785 2406785 - Variant 296276 RCV000354897 SCV000355607 280485 PEX10 NM_153818.1:c.771C>T NP_722540.1:p.Tyr257= NM_153818.1:c.771C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2406791 C CT 2406792 2406792 - Variant 6774 RCV000007176 SCV000027372;SCV000487553 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2016-07-22 OMIM;Counsyl OMIM;Counsyl Peroxisome biogenesis disorder 6A;PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 10862081;15542397;17702006;20695019;9683594 germline;unknown Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 2010-08-01;2016-07-22 1 2406791 C CT 2406792 2406792 - Variant 6774 RCV000149808 SCV000487554;SCV000196632 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter 2016-07-22 OMIM;Counsyl OMIM;Counsyl Peroxisome biogenesis disorder 6B 10862081;15542397;17702006;20695019;9683594 germline;unknown MedGen:C3553948;OMIM:614871;Orphanet:44 2010-08-01;2016-07-22 -1 2406791 C CT 2406792 2406792 - Variant 6774 RCV000324305 SCV000329456 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-08 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2015-12-08 +1 2406791 C CT 2406792 2406792 - Variant 6774 RCV000324305 SCV000329456 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-08 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2015-12-08 1 2406811 C G 2406811 2406811 - Variant 296277 RCV000408360 SCV000355608 280137 PEX10 NM_153818.1:c.745G>C NP_722540.1:p.Val249Leu NM_153818.1:c.745G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 -1 2406811 C G 2406811 2406811 - Variant 296277 RCV000425126 SCV000511689 280137 PEX10 NM_153818.1:c.745G>C NP_722540.1:p.Val249Leu NM_153818.1:c.745G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-05 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-01-05-06:00 +1 2406811 C G 2406811 2406811 - Variant 296277 RCV000425126 SCV000511689 280137 PEX10 NM_153818.1:c.745G>C NP_722540.1:p.Val249Leu NM_153818.1:c.745G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-05 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-01-05 1 2406855 C T 2406855 2406855 - Variant 291156 RCV000343088 SCV000345862 275393 PEX10 NM_153818.1:c.701G>A NP_722540.1:p.Arg234His NM_153818.1:c.701G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-09-08 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-08 +1 2406856 G A 2406856 2406856 - Variant 446046 RCV000514876 SCV000611011 439318 PEX10 NM_153818.1:c.700C>T NP_722540.1:p.Arg234Cys NM_153818.1:c.700C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-09-05 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-09-05 1 2406885 C T 2406885 2406885 - Variant 197386 RCV000178399 SCV000230472 194547 PEX10 NM_153818.1:c.671G>A NP_722540.1:p.Arg224His NM_153818.1:c.671G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-21 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-04-21 1 2406885 C T 2406885 2406885 - Variant 197386 RCV000315166 SCV000355609 194547 PEX10 NM_153818.1:c.671G>A NP_722540.1:p.Arg224His NM_153818.1:c.671G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2406970 C T 2406970 2406970 - Variant 296278 RCV000367525 SCV000355610 281805 PEX10 NM_153818.1:c.601-15G>A NM_153818.1:c.601-15G>A:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2408451 C T 2408451 2408451 - Variant 6770 RCV000007172 SCV000027368 21809 PEX10 NM_153818.1:c.600+1G>A NM_153818.1:c.600+1G>A:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-08-01 OMIM OMIM Peroxisome biogenesis disorder 6A;PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 9683594 germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 1998-08-01 +1 2408451 C T 2408451 2408451 - Variant 6770 RCV000519441 SCV000617242 21809 PEX10 NM_153818.1:c.600+1G>A NM_153818.1:c.600+1G>A:splice donor variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-15 GeneDx GeneDx not provided;Not Provided 9683594 germline MedGen:CN517202 2017-05-15 1 2408497 G A 2408497 2408497 - Variant 296279 RCV000275159 SCV000355611 281806 PEX10 NM_153818.1:c.555C>T NP_722540.1:p.His185= NM_153818.1:c.555C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2408557 G A 2408557 2408557 - Variant 196588 RCV000177416 SCV000229272 193749 PEX10 NM_153818.1:c.495C>T NP_722540.1:p.Phe165= NM_153818.1:c.495C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-06 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-06 1 2408606 G A 2408606 2408606 - Variant 289259 RCV000378264 SCV000343590 273496 PEX10 NM_153818.1:c.446C>T NP_722540.1:p.Thr149Met NM_153818.1:c.446C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-05 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-07-05 +1 2408616 G C 2408616 2408616 - Variant 452215 RCV000520880 SCV000621003 442784 PEX10 NM_153818.1:c.436C>G NP_722540.1:p.Arg146Gly NM_153818.1:c.436C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-09-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-09-22 1 2408634 C G 2408634 2408634 - Variant 296280 RCV000309150 SCV000355612 281810 PEX10 NM_153818.1:c.418G>C NP_722540.1:p.Gly140Arg NM_153818.1:c.418G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2408679 G A 2408679 2408679 - Variant 6772 RCV000007174 SCV000027370 21811 PEX10 NM_153818.1:c.373C>T NP_722540.1:p.Arg125Ter NM_153818.1:c.373C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 1998-08-01 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 9683594 germline MedGen:C3553948;OMIM:614871;Orphanet:44 1998-08-01 1 2408700 G A 2408700 2408700 - Variant 371748 RCV000410037 SCV000487627 357074 PEX10 NM_153818.1:c.352C>T NP_722540.1:p.Gln118Ter NM_153818.1:c.352C>T:nonsense Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-21 Counsyl Counsyl Peroxisome biogenesis disorder 6A 10862081;21031596;25525159 unknown Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 2016-10-21 1 2408700 G A 2408700 2408700 - Variant 371748 RCV000411504 SCV000487628 357074 PEX10 NM_153818.1:c.352C>T NP_722540.1:p.Gln118Ter NM_153818.1:c.352C>T:nonsense Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-10-21 Counsyl Counsyl Peroxisome biogenesis disorder 6B 10862081;21031596;25525159 unknown MedGen:C3553948;OMIM:614871;Orphanet:44 2016-10-21 -1 2408713 CA C 2408714 2408714 - Variant 235465 RCV000224922 SCV000281066 237148 PEX10 NM_153818.1:c.338delT NP_722540.1:p.Leu113Argfs NM_153818.1:c.338delT:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-11 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-01-11-06:00 +1 2408713 CA C 2408714 2408714 - Variant 235465 RCV000224922 SCV000281066 237148 PEX10 NM_153818.1:c.338delT NP_722540.1:p.Leu113Argfs NM_153818.1:c.338delT:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-11 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2016-01-11 1 2408714 AG A 2408715 2408715 - Variant 162431 RCV000149809 SCV000196633 172122 PEX10 NM_153818.1:c.337delC NP_722540.1:p.Leu113Trpfs NM_153818.1:c.337delC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2009-02-01 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 19127411;8982949 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2009-02-01 1 2408719 G A 2408719 2408719 - Variant 289556 RCV000356298 SCV000343936 273793 PEX10 NM_153818.1:c.333C>T NP_722540.1:p.Leu111= NM_153818.1:c.333C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-15 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-07-15 1 2408734 C T 2408734 2408734 - Variant 262789 RCV000249703 SCV000316394 249843 PEX10 NM_153818.1:c.318G>A NP_722540.1:p.Leu106= NM_153818.1:c.318G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 0000-00-00 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 @@ -518,233 +748,3 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 2408772 C T 2408772 2408772 - Variant 296282 RCV000378821 SCV000355616 281811 PEX10 NM_153818.1:c.280G>A NP_722540.1:p.Val94Met NM_153818.1:c.280G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 2408773 G A 2408773 2408773 - Variant 129883 RCV000117901 SCV000316392;SCV000152176 135329 PEX10 NM_153818.1:c.279C>T NP_722540.1:p.Gly93= NM_153818.1:c.279C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;benign 0 0 0 1 1 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter 0000-00-00 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 2408773 G A 2408773 2408773 - Variant 129883 RCV000267822 SCV000355617 135329 PEX10 NM_153818.1:c.279C>T NP_722540.1:p.Gly93= NM_153818.1:c.279C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 -1 2408777 C T 2408777 2408777 - Variant 296283 RCV000320556 SCV000355618 281812 PEX10 NM_153818.1:c.275G>A NP_722540.1:p.Arg92His NM_153818.1:c.275G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 -1 2408863 G A 2408863 2408863 - Variant 262788 RCV000250225 SCV000334697;SCV000316391 249844 PEX10 NM_153818.1:c.194-5C>T NM_153818.1:c.194-5C>T:intron variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2015-09-04 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2015-09-04 -1 2408863 G A 2408863 2408863 - Variant 262788 RCV000377774 SCV000355619 249844 PEX10 NM_153818.1:c.194-5C>T NM_153818.1:c.194-5C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 -1 2410440 A T 2410440 2410440 - Variant 436285 RCV000503264 SCV000596392 427756 PEX10 NM_153818.1:c.124T>A NP_722540.1:p.Trp42Arg NM_153818.1:c.124T>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-08-13 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-08-13 -1 2412497 G C 2412497 2412497 - Variant 284321 RCV000280964 SCV000355620 268558 PEX10 NM_153818.1:c.6C>G NP_722540.1:p.Ala2= NM_153818.1:c.6C>G:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 -1 2412497 G C 2412497 2412497 - Variant 284321 RCV000370857 SCV000336900 268558 PEX10 NM_153818.1:c.6C>G NP_722540.1:p.Ala2= NM_153818.1:c.6C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-10-30 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-10-30 -1 2412501 A G 2412501 2412501 - Variant 162434 RCV000149812 SCV000196636 172125 PEX10 NM_153818.1:c.2T>C NP_722540.1:p.Met1Thr NM_153818.1:c.2T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2010-08-01 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 20695019 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2010-08-01 -1 2412502 T C 2412502 2412502 - Variant 280002 RCV000341916 SCV000329696 263985 PEX10 NM_153818.1:c.1A>G NP_722540.1:p.Met1Val NM_153818.1:c.1A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2015-11-25 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2015-11-25 -1 2412552 CCA C 2412553 2412554 - Variant 296284 RCV000338225 SCV000355621 281942 PEX10 NM_153818.1:c.-52_-51delTG NM_153818.1:c.-52_-51delTG:5 prime UTR variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 -1 2556714 A G 2556714 2556714 + Variant 135349 RCV000122164 SCV000086379 139088 TNFRSF14 NM_003820.3:c.50A>G NP_003811.2:p.Lys17Arg NM_003820.3:c.50A>G:missense variant;NR_037844.2:n.36-18T>C:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559013 C T 2559013 2559013 + Variant 133394 RCV000119896 SCV000084026 137133 TNFRSF14 NM_003820.3:c.304+545C>T NM_003820.3:c.304+545C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559074 C G 2559074 2559074 + Variant 133395 RCV000119897 SCV000084027 137134 TNFRSF14 NM_003820.3:c.304+606C>G NM_003820.3:c.304+606C>G:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559092 C T 2559092 2559092 + Variant 133396 RCV000119898 SCV000084028 137135 TNFRSF14 NM_003820.3:c.304+624C>T NM_003820.3:c.304+624C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559110 C T 2559110 2559110 + Variant 133397 RCV000119899 SCV000084029 137136 TNFRSF14 NM_003820.3:c.304+642C>T NM_003820.3:c.304+642C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559169 A G 2559169 2559169 + Variant 133398 RCV000119900 SCV000084030 137137 TNFRSF14 NM_003820.3:c.305-654A>G NM_003820.3:c.305-654A>G:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559170 T C 2559170 2559170 + Variant 133399 RCV000119901 SCV000084031 137138 TNFRSF14 NM_003820.3:c.305-653T>C NM_003820.3:c.305-653T>C:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559347 C T 2559347 2559347 + Variant 133400 RCV000119902 SCV000084032 137139 TNFRSF14 NM_003820.3:c.305-476C>T NM_003820.3:c.305-476C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559361 G T 2559361 2559361 + Variant 133401 RCV000119903 SCV000084033 137140 TNFRSF14 NM_003820.3:c.305-462G>T NM_003820.3:c.305-462G>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559422 G T 2559422 2559422 + Variant 133402 RCV000119904 SCV000084034 137141 TNFRSF14 NM_003820.3:c.305-401G>T NM_003820.3:c.305-401G>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559426 T A 2559426 2559426 + Variant 133403 RCV000119905 SCV000084035 137142 TNFRSF14 NM_003820.3:c.305-397T>A NM_003820.3:c.305-397T>A:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559459 C A 2559459 2559459 + Variant 133404 RCV000119906 SCV000084036 137143 TNFRSF14 NM_003820.3:c.305-364C>A NM_003820.3:c.305-364C>A:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559495 C A 2559495 2559495 + Variant 133405 RCV000119907 SCV000084037 137144 TNFRSF14 NM_003820.3:c.305-328C>A NM_003820.3:c.305-328C>A:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559503 C A 2559503 2559503 + Variant 133406 RCV000119908 SCV000084038 137145 TNFRSF14 NM_003820.3:c.305-320C>A NM_003820.3:c.305-320C>A:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559515 C T 2559515 2559515 + Variant 133407 RCV000119909 SCV000084039 137146 TNFRSF14 NM_003820.3:c.305-308C>T NM_003820.3:c.305-308C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559574 C T 2559574 2559574 + Variant 133408 RCV000119910 SCV000084040 137147 TNFRSF14 NM_003820.3:c.305-249C>T NM_003820.3:c.305-249C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559622 G A 2559622 2559622 + Variant 133409 RCV000119911 SCV000084041 137148 TNFRSF14 NM_003820.3:c.305-201G>A NM_003820.3:c.305-201G>A:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559632 C G 2559632 2559632 + Variant 133410 RCV000119912 SCV000084042 137149 TNFRSF14 NM_003820.3:c.305-191C>G NM_003820.3:c.305-191C>G:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559632 C T 2559632 2559632 + Variant 133411 RCV000119913 SCV000084043 137150 TNFRSF14 NM_003820.3:c.305-191C>T NM_003820.3:c.305-191C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559652 G A 2559652 2559652 + Variant 133412 RCV000119914 SCV000084044 137151 TNFRSF14 NM_003820.3:c.305-171G>A NM_003820.3:c.305-171G>A:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559725 G A 2559725 2559725 + Variant 133413 RCV000119915 SCV000084045 137152 TNFRSF14 NM_003820.3:c.305-98G>A NM_003820.3:c.305-98G>A:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559764 CCC ACT 2559764 2559766 + Variant 133415 RCV000119917 SCV000084047 137154 TNFRSF14 NM_003820.3:c.305-59_305-57delCCCinsACT NM_003820.3:c.305-59_305-57delCCCinsACT:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559766 C T 2559766 2559766 + Variant 133414 RCV000119916 SCV000084046 137153 TNFRSF14 NM_003820.3:c.305-57C>T NM_003820.3:c.305-57C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559866 C T 2559866 2559866 + Variant 135350 RCV000122165 SCV000086380 139089 TNFRSF14 NM_003820.3:c.348C>T NP_003811.2:p.Asn116= NM_003820.3:c.348C>T:synonymous variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559867 G A 2559867 2559867 + Variant 135353 RCV000122168 SCV000086383 139092 TNFRSF14 NM_003820.3:c.349G>A NP_003811.2:p.Ala117Thr NM_003820.3:c.349G>A:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559923 C T 2559923 2559923 + Variant 135351 RCV000122166 SCV000086381 139090 TNFRSF14 NM_003820.3:c.405C>T NP_003811.2:p.Cys135= NM_003820.3:c.405C>T:synonymous variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2559926 C T 2559926 2559926 + Variant 135352 RCV000122167 SCV000086382 139091 TNFRSF14 NM_003820.3:c.408C>T NP_003811.2:p.Ala136= NM_003820.3:c.408C>T:synonymous variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2560684 G A 2560684 2560684 + Variant 135354 RCV000122169 SCV000086384 139093 TNFRSF14 NM_003820.3:c.521G>A NP_003811.2:p.Gly174Glu NM_003820.3:c.521G>A:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2561507 AG A 2561508 2561508 + Variant 133416 RCV000119918 SCV000084048 137155 TNFRSF14 NM_003820.3:c.552-165delG NM_003820.3:c.552-165delG:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2561533 C T 2561533 2561533 + Variant 133417 RCV000119919 SCV000084049 137156 TNFRSF14 NM_003820.3:c.552-140C>T NM_003820.3:c.552-140C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2561679 C G 2561679 2561679 + Variant 91954 RCV000122511 SCV000155019 97432 TNFRSF14 NM_003820.3:c.558C>G NP_003811.2:p.Ser186Arg NM_001297605.1:c.551+965C>G:intron variant;NM_003820.3:c.558C>G:missense variant Uncertain significance unknown 0 0 0 0 0 no assertion criteria provided no assertion criteria provided 0000-00-00 Richard Lifton Laboratory, Yale University School of Medicine Richard Lifton Laboratory, Yale University School of Medicine not provided;not provided somatic MedGen:CN221809 0000-00-00 -1 2562891 G A 2562891 2562891 + Variant 135355 RCV000122170 SCV000086385 139094 TNFRSF14 NM_003820.3:c.721G>A NP_003811.2:p.Val241Ile NM_001297605.1:c.*23G>A:3 prime UTR variant;NM_003820.3:c.721G>A:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2563206 C T 2563206 2563206 + Variant 135356 RCV000122171 SCV000086386 139095 TNFRSF14 NM_003820.3:c.785C>T NP_003811.2:p.Pro262Leu NM_001297605.1:c.*87C>T:3 prime UTR variant;NM_003820.3:c.785C>T:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 2563218 C T 2563218 2563218 + Variant 135357 RCV000122172 SCV000086387 139096 TNFRSF14 NM_003820.3:c.797C>T NP_003811.2:p.Thr266Met NM_001297605.1:c.*99C>T:3 prime UTR variant;NM_003820.3:c.797C>T:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2013-09-19 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 -1 3069246 C A 3069246 3069246 + Variant 228319 RCV000214266 SCV000271302 228411 PRDM16 NM_022114.3:c.-14C>A NM_022114.3:c.-14C>A:5 prime UTR variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided 2016-04-07 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified germline MedGen:CN169374 2016-04-07 -1 3069280 G A 3069280 3069280 + Variant 390136 RCV000439530 SCV000532887 365123 PRDM16 NM_022114.3:c.21G>A NP_071397.3:p.Ala7= NM_022114.3:c.21G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-26 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-26 -1 3186110 C T 3186110 3186110 + Variant 227038 RCV000222776 SCV000525689;SCV000269736 228410 PRDM16 NM_022114.3:c.38-15C>T NM_022114.3:c.38-15C>T:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-11-21 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-11-21 -1 3186111 G A 3186111 3186111 + Variant 229168 RCV000219133 SCV000527901;SCV000272332 228412 PRDM16 NM_022114.3:c.38-14G>A NM_022114.3:c.38-14G>A:intron variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2017-05-25 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-04-14;2017-05-25 -1 3186187 G A 3186187 3186187 + Variant 227857 RCV000215109 SCV000270747;SCV000525664 228413 PRDM16 NM_022114.3:c.100G>A NP_071397.3:p.Ala34Thr NM_022114.3:c.100G>A:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-06 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-04-01;2016-10-06 -1 3186187 G A 3186187 3186187 + Variant 227857 RCV000228623 SCV000290637 228413 PRDM16 NM_022114.3:c.100G>A NP_071397.3:p.Ala34Thr NM_022114.3:c.100G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-12 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-12 -1 3186188 C T 3186188 3186188 + Variant 406246 RCV000456657 SCV000544798 391167 PRDM16 NM_022114.3:c.101C>T NP_071397.3:p.Ala34Val NM_022114.3:c.101C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-19 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-19 -1 3186229 G A 3186229 3186229 + Variant 241420 RCV000234327 SCV000290639 238267 PRDM16 NM_022114.3:c.142G>A NP_071397.3:p.Val48Met NM_022114.3:c.142G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-11-17 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-11-17 -1 3186229 G A 3186229 3186229 + Variant 241420 RCV000430883 SCV000534200 238267 PRDM16 NM_022114.3:c.142G>A NP_071397.3:p.Val48Met NM_022114.3:c.142G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-22 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-22 -1 3186233 G A 3186233 3186233 + Variant 423614 RCV000486085 SCV000573332 405157 PRDM16 NM_022114.3:c.146G>A NP_071397.3:p.Gly49Glu NM_022114.3:c.146G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-15 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-15 -1 3186287 C T 3186287 3186287 + Variant 406237 RCV000469281 SCV000544788 391187 PRDM16 NM_022114.3:c.200C>T NP_071397.3:p.Pro67Leu NM_022114.3:c.200C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-05 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-05 -1 3186288 G A 3186288 3186288 + Variant 227864 RCV000220218 SCV000270754 228414 PRDM16 NM_022114.3:c.201G>A NP_071397.3:p.Pro67= NM_022114.3:c.201G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-08-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-08-11 -1 3186288 G A 3186288 3186288 + Variant 227864 RCV000228859 SCV000290643 228414 PRDM16 NM_022114.3:c.201G>A NP_071397.3:p.Pro67= NM_022114.3:c.201G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-06-24 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-24 -1 3186434 T C 3186434 3186434 + Variant 391742 RCV000426483 SCV000534878 365215 PRDM16 NM_022114.3:c.347T>C NP_071397.3:p.Val116Ala NM_022114.3:c.347T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-16 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-16 -1 3186480 C T 3186480 3186480 + Variant 227039 RCV000216479 SCV000269737 228415 PRDM16 NM_022114.3:c.387+6C>T NM_022114.3:c.387+6C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-06-10 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-06-10 -1 3186480 C T 3186480 3186480 + Variant 227039 RCV000464355 SCV000556981 228415 PRDM16 NM_022114.3:c.387+6C>T NM_022114.3:c.387+6C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-11-06 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-06 -1 3244102 G A 3244102 3244102 + Variant 432894 RCV000498621 SCV000590667 425363 PRDM16 NM_022114.3:c.403G>A NP_071397.3:p.Val135Met NM_022114.3:c.403G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-19 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-19 -1 3244128 C T 3244128 3244128 + Variant 227040 RCV000219941 SCV000269738 228416 PRDM16 NM_022114.3:c.429C>T NP_071397.3:p.Cys143= NM_022114.3:c.429C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2014-11-24 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 -1 3385148 G T 3385148 3385148 + Variant 413869 RCV000463252 SCV000556978 391188 PRDM16 NM_022114.3:c.439-4G>T NM_022114.3:c.439-4G>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-26 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-26 -1 3385157 C T 3385157 3385157 + Variant 227041 RCV000213616 SCV000269739;SCV000520304 228417 PRDM16 NM_022114.3:c.444C>T NP_071397.3:p.Ser148= NM_022114.3:c.444C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-09 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-09 -1 3385194 A G 3385194 3385194 + Variant 406240 RCV000475755 SCV000544792 391170 PRDM16 NM_022114.3:c.481A>G NP_071397.3:p.Asn161Asp NM_022114.3:c.481A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-19 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-19 -1 3385201 C T 3385201 3385201 + Variant 391177 RCV000444937 SCV000534187 365226 PRDM16 NM_022114.3:c.488C>T NP_071397.3:p.Ala163Val NM_022114.3:c.488C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-30 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-30 -1 3385266 A G 3385266 3385266 + Variant 235271 RCV000224254 SCV000280726 236958 PRDM16 NM_022114.3:c.553A>G NP_071397.3:p.Met185Val NM_022114.3:c.553A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-11 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-01-11-06:00 -1 3385295 G A 3385295 3385295 + Variant 413864 RCV000473521 SCV000556968 391176 PRDM16 NM_022114.3:c.573+9G>A NM_022114.3:c.573+9G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-03 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 -1 3396467 TTCTC T 3396471 3396474 + Variant 422807 RCV000482222 SCV000572372 405161 PRDM16 NM_022114.3:c.574-20_574-17delCTCT NM_022114.3:c.574-20_574-17delCTCT:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-29 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-29 -1 3396544 C T 3396544 3396544 + Variant 227042 RCV000217911 SCV000269740;SCV000527902 228418 PRDM16 NM_022114.3:c.627C>T NP_071397.3:p.His209= NM_022114.3:c.627C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-10-11 -1 3396544 C T 3396544 3396544 + Variant 227042 RCV000470033 SCV000556962 228418 PRDM16 NM_022114.3:c.627C>T NP_071397.3:p.His209= NM_022114.3:c.627C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-12-29 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-29 -1 3396574 A C 3396574 3396574 + Variant 227872 RCV000217723 SCV000270762 228419 PRDM16 NM_022114.3:c.657A>C NP_071397.3:p.Thr219= NM_022114.3:c.657A>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-04-01 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-01 -1 3396583 C T 3396583 3396583 + Variant 226442 RCV000488452 SCV000270763 228241 PRDM16 NM_022114.3:c.666C>T NP_071397.3:p.Pro222= NM_022114.3:c.666C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-03-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-11 -1 3402775 G A 3402775 3402775 + Variant 381208 RCV000420246 SCV000520353 365019 PRDM16 NM_022114.3:c.677-16G>A NM_022114.3:c.677-16G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-04 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-04 -1 3402828 C A 3402828 3402828 + Variant 227874 RCV000214448 SCV000270764 228420 PRDM16 NM_022114.3:c.714C>A NP_071397.3:p.Leu238= NM_022114.3:c.714C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2014-11-24 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 -1 3402897 C T 3402897 3402897 + Variant 227043 RCV000220870 SCV000528008;SCV000269741 228422 PRDM16 NM_022114.3:c.783C>T NP_071397.3:p.Tyr261= NM_022114.3:c.783C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-04 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-10-04 -1 3402897 C T 3402897 3402897 + Variant 227043 RCV000228241 SCV000290657 228422 PRDM16 NM_022114.3:c.783C>T NP_071397.3:p.Tyr261= NM_022114.3:c.783C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-19 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-19 -1 3402936 C T 3402936 3402936 + Variant 227875 RCV000217462 SCV000270765 228423 PRDM16 NM_022114.3:c.822C>T NP_071397.3:p.Gly274= NM_022114.3:c.822C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2014-11-24 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 -1 3402939 TG T 3402940 3402940 + Variant 377306 RCV000442803 SCV000511708 364184 PRDM16 NM_022114.3:c.826delG NP_071397.3:p.Gly276Alafs NM_022114.3:c.826delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-07 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-02-07-06:00 -1 3402981 G A 3402981 3402981 + Variant 229169 RCV000223395 SCV000272333 228425 PRDM16 NM_022114.3:c.867G>A NP_071397.3:p.Met289Ile NM_022114.3:c.867G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-14 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-14 -1 3402986 C T 3402986 3402986 + Variant 60728 RCV000054522 SCV000083000 75288 PRDM16 NM_022114.3:c.872C>T NP_071397.3:p.Pro291Leu NM_022114.3:c.872C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-07-11 OMIM OMIM Dilated cardiomyopathy 1LL;CARDIOMYOPATHY, DILATED, 1LL 23768516 germline MedGen:CN178850;OMIM:615373 2013-07-11 -1 3404734 C T 3404734 3404734 + Variant 391408 RCV000431911 SCV000534475 365024 PRDM16 NM_022114.3:c.885-5C>T NM_022114.3:c.885-5C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-05 -1 3404735 G A 3404735 3404735 + Variant 413870 RCV000457740 SCV000556980 391323 PRDM16 NM_022114.3:c.885-4G>A NM_022114.3:c.885-4G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-03-31 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-31 -1 3405485 G A 3405485 3405485 + Variant 413861 RCV000466116 SCV000556961 391327 PRDM16 NM_022114.3:c.1033-10G>A NM_022114.3:c.1033-10G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-20 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-09-20 -1 3405487 C T 3405487 3405487 + Variant 413872 RCV000465432 SCV000556984 391224 PRDM16 NM_022114.3:c.1033-8C>T NM_022114.3:c.1033-8C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-04-04 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-04-04 -1 3405533 C T 3405533 3405533 + Variant 221025 RCV000204192 SCV000262104 221095 PRDM16 NM_022114.3:c.1071C>T NP_071397.3:p.Arg357= NM_022114.3:c.1071C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-12 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-12 -1 3405533 C T 3405533 3405533 + Variant 221025 RCV000220538 SCV000533008;SCV000269718 221095 PRDM16 NM_022114.3:c.1071C>T NP_071397.3:p.Arg357= NM_022114.3:c.1071C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-11-16 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-11-16 -1 3405543 G A 3405543 3405543 + Variant 229155 RCV000213682 SCV000272319 228426 PRDM16 NM_022114.3:c.1081G>A NP_071397.3:p.Val361Met NM_022114.3:c.1081G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-08 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-08 -1 3405555 G T 3405555 3405555 + Variant 229156 RCV000216650 SCV000272320 228427 PRDM16 NM_022114.3:c.1093G>T NP_071397.3:p.Ala365Ser NM_022114.3:c.1093G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-05-28 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-05-28 -1 3405575 C T 3405575 3405575 + Variant 227022 RCV000214207 SCV000269719;SCV000525690 228429 PRDM16 NM_022114.3:c.1113C>T NP_071397.3:p.Cys371= NM_022114.3:c.1113C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-30 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-09-30 -1 3405575 C T 3405575 3405575 + Variant 227022 RCV000475757 SCV000556971 228429 PRDM16 NM_022114.3:c.1113C>T NP_071397.3:p.Cys371= NM_022114.3:c.1113C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-10 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-10 -1 3405578 G A 3405578 3405578 + Variant 227858 RCV000219433 SCV000535019;SCV000270748 228428 PRDM16 NM_022114.3:c.1116G>A NP_071397.3:p.Gly372= NM_022114.3:c.1116G>A:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-12-20 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-06-10;2016-12-20 -1 3405596 C G 3405596 3405596 + Variant 227859 RCV000222431 SCV000534351;SCV000270749 228430 PRDM16 NM_022114.3:c.1134C>G NP_071397.3:p.Ser378= NM_022114.3:c.1134C>G:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-11-28 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-24;2016-11-28 -1 3405596 C G 3405596 3405596 + Variant 227859 RCV000463379 SCV000556958 228430 PRDM16 NM_022114.3:c.1134C>G NP_071397.3:p.Ser378= NM_022114.3:c.1134C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-06-21 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-21 -1 3411374 G C 3411374 3411374 + Variant 229157 RCV000221026 SCV000272321 228431 PRDM16 NM_022114.3:c.1187-10G>C NM_022114.3:c.1187-10G>C:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-05-26 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-05-26 -1 3411409 G A 3411409 3411409 + Variant 227023 RCV000217174 SCV000531906;SCV000269720 228432 PRDM16 NM_022114.3:c.1212G>A NP_071397.3:p.Thr404= NM_022114.3:c.1212G>A:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2017-01-12 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2017-01-12 -1 3411409 G A 3411409 3411409 + Variant 227023 RCV000230341 SCV000290638 228432 PRDM16 NM_022114.3:c.1212G>A NP_071397.3:p.Thr404= NM_022114.3:c.1212G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-04 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-04 -1 3411522 G A 3411522 3411522 + Variant 373356 RCV000414577 SCV000491943 359261 PRDM16 NM_022114.3:c.1325G>A NP_071397.3:p.Arg442Gln NM_022114.3:c.1325G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-21 -1 3411525 G A 3411525 3411525 + Variant 432618 RCV000497461 SCV000590367 425364 PRDM16 NM_022114.3:c.1328G>A NP_071397.3:p.Arg443His NM_022114.3:c.1328G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-09 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-09 -1 3411560 G A 3411560 3411560 + Variant 227860 RCV000214839 SCV000270750 228433 PRDM16 NM_022114.3:c.1363G>A NP_071397.3:p.Gly455Ser NM_022114.3:c.1363G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-11-24 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-11-24 -1 3411590 C G 3411590 3411590 + Variant 406236 RCV000459138 SCV000544787 391328 PRDM16 NM_022114.3:c.1393C>G NP_071397.3:p.Pro465Ala NM_022114.3:c.1393C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-13 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-13 -1 3411623 C T 3411623 3411623 + Variant 227024 RCV000221460 SCV000269721 228435 PRDM16 NM_022114.3:c.1426C>T NP_071397.3:p.Pro476Ser NM_022114.3:c.1426C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2014-11-24 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 -1 3411623 C T 3411623 3411623 + Variant 227024 RCV000474106 SCV000556965 228435 PRDM16 NM_022114.3:c.1426C>T NP_071397.3:p.Pro476Ser NM_022114.3:c.1426C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-09-12 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-09-12 -1 3411655 CG C 3411656 3411656 + Variant 426516 RCV000489128 SCV000576978 414793 PRDM16 NM_022114.3:c.1459delG NP_071397.3:p.Glu487Serfs NM_022114.3:c.1459delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-13 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2017-04-13 -1 3411682 G A 3411682 3411682 + Variant 406234 RCV000464362 SCV000544785 391330 PRDM16 NM_022114.3:c.1485G>A NP_071397.3:p.Pro495= NM_022114.3:c.1485G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-06 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-06 -1 3411715 G A 3411715 3411715 + Variant 227025 RCV000214308 SCV000532874;SCV000269722 228434 PRDM16 NM_022114.3:c.1518G>A NP_071397.3:p.Thr506= NM_022114.3:c.1518G>A:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-12-07 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-12-07 -1 3411715 G A 3411715 3411715 + Variant 227025 RCV000461808 SCV000556955 228434 PRDM16 NM_022114.3:c.1518G>A NP_071397.3:p.Thr506= NM_022114.3:c.1518G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-18 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-18 -1 3411734 G A 3411734 3411734 + Variant 241421 RCV000228195 SCV000290640 238269 PRDM16 NM_022114.3:c.1537G>A NP_071397.3:p.Gly513Ser NM_022114.3:c.1537G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-03-28 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-28 -1 3411742 G A 3411742 3411742 + Variant 413859 RCV000477564 SCV000556957 391189 PRDM16 NM_022114.3:c.1545G>A NP_071397.3:p.Pro515= NM_022114.3:c.1545G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-03 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 -1 3411765 A AC 3411770 3411770 + Variant 280120 RCV000365162 SCV000329980 264033 PRDM16 NM_022114.3:c.1573dupC NP_071397.3:p.Arg525Profs NM_022114.3:c.1573dupC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter 2016-02-08 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-02-08 -1 3411771 G A 3411771 3411771 + Variant 229158 RCV000213365 SCV000272322 228436 PRDM16 NM_022114.3:c.1574G>A NP_071397.3:p.Arg525Gln NM_022114.3:c.1574G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-26 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-01-26 -1 3411775 G A 3411775 3411775 + Variant 227861 RCV000219165 SCV000270751 228437 PRDM16 NM_022114.3:c.1578G>A NP_071397.3:p.Pro526= NM_022114.3:c.1578G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-01-22 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-01-22 -1 3411775 G A 3411775 3411775 + Variant 227861 RCV000470998 SCV000556982 228437 PRDM16 NM_022114.3:c.1578G>A NP_071397.3:p.Pro526= NM_022114.3:c.1578G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-18 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-18 -1 3411794 T C 3411794 3411794 + Variant 227026 RCV000217271 SCV000520301;SCV000269723 228438 PRDM16 NM_022114.3:c.1597T>C NP_071397.3:p.Ser533Pro NM_022114.3:c.1597T>C:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-09 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-09 -1 3411796 G A 3411796 3411796 + Variant 413858 RCV000471293 SCV000556956 391333 PRDM16 NM_022114.3:c.1599G>A NP_071397.3:p.Ser533= NM_022114.3:c.1599G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-08-03 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-03 -1 3411829 C T 3411829 3411829 + Variant 241422 RCV000232157 SCV000290641 238270 PRDM16 NM_022114.3:c.1632C>T NP_071397.3:p.Asp544= NM_022114.3:c.1632C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-02-26 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-02-26 -1 3411881 G A 3411881 3411881 + Variant 227862 RCV000223463 SCV000530370;SCV000270752 228439 PRDM16 NM_022114.3:c.1684G>A NP_071397.3:p.Val562Ile NM_022114.3:c.1684G>A:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2017-06-27 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2017-06-27 -1 3411881 G A 3411881 3411881 + Variant 227862 RCV000459912 SCV000556986 228439 PRDM16 NM_022114.3:c.1684G>A NP_071397.3:p.Val562Ile NM_022114.3:c.1684G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-11-03 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 -1 3411903 C T 3411903 3411903 + Variant 426420 RCV000489145 SCV000576855 414794 PRDM16 NM_022114.3:c.1706C>T NP_071397.3:p.Thr569Met NM_022114.3:c.1706C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-17 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-17 -1 3411916 G A 3411916 3411916 + Variant 241423 RCV000225997 SCV000290642 238271 PRDM16 NM_022114.3:c.1719G>A NP_071397.3:p.Ala573= NM_022114.3:c.1719G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-03-13 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-13 -1 3411923 G A 3411923 3411923 + Variant 430198 RCV000494613 SCV000582941 421241 PRDM16 NM_022114.3:c.1726G>A NP_071397.3:p.Glu576Lys NM_022114.3:c.1726G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-05-19 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-19 -1 3411994 G A 3411994 3411994 + Variant 390967 RCV000440662 SCV000533929 365233 PRDM16 NM_022114.3:c.1797G>A NP_071397.3:p.Ser599= NM_022114.3:c.1797G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-18 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-18 -1 3412047 C T 3412047 3412047 + Variant 432644 RCV000498119 SCV000590394 425365 PRDM16 NM_022114.3:c.1850C>T NP_071397.3:p.Thr617Met NM_022114.3:c.1850C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-06-13 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-13 -1 3412074 A T 3412074 3412074 + Variant 229159 RCV000217585 SCV000272323 228441 PRDM16 NM_022114.3:c.1877A>T NP_071397.3:p.Asp626Val NM_022114.3:c.1877A>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-01-26 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-01-26 -1 3412079 G A 3412079 3412079 + Variant 406247 RCV000466162 SCV000544799 391230 PRDM16 NM_022114.3:c.1882G>A NP_071397.3:p.Asp628Asn NM_022114.3:c.1882G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-15 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-15 -1 3412095 C T 3412095 3412095 + Variant 227027 RCV000221571 SCV000269724;SCV000520305 228440 PRDM16 NM_022114.3:c.1898C>T NP_071397.3:p.Pro633Leu NM_022114.3:c.1898C>T:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-23 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-23 -1 3412127 G A 3412127 3412127 + Variant 392339 RCV000431315 SCV000535594 365026 PRDM16 NM_022114.3:c.1930G>A NP_071397.3:p.Glu644Lys NM_022114.3:c.1930G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-01-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-05 -1 3412159 G A 3412159 3412159 + Variant 413863 RCV000458957 SCV000556966 391179 PRDM16 NM_022114.3:c.1962G>A NP_071397.3:p.Ala654= NM_022114.3:c.1962G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-31 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-31 -1 3412162 C A 3412162 3412162 + Variant 391905 RCV000441266 SCV000535074 365030 PRDM16 NM_022114.3:c.1965C>A NP_071397.3:p.Pro655= NM_022114.3:c.1965C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-19 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-19 -1 3412169 G C 3412169 3412169 + Variant 406241 RCV000462349 SCV000544793 391192 PRDM16 NM_022114.3:c.1972G>C NP_071397.3:p.Ala658Pro NM_022114.3:c.1972G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-07-10 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-10 -1 3412174 G A 3412174 3412174 + Variant 227863 RCV000215898 SCV000270753 228442 PRDM16 NM_022114.3:c.1977G>A NP_071397.3:p.Pro659= NM_022114.3:c.1977G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-03-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-11 -1 3412234 C T 3412234 3412234 + Variant 413865 RCV000461094 SCV000556972 391334 PRDM16 NM_022114.3:c.2037C>T NP_071397.3:p.Asp679= NM_022114.3:c.2037C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-30 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-30 -1 3412257 G C 3412257 3412257 + Variant 229160 RCV000221873 SCV000272324 228443 PRDM16 NM_022114.3:c.2060G>C NP_071397.3:p.Gly687Ala NM_022114.3:c.2060G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-03-22 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-03-22 -1 3412286 G T 3412286 3412286 + Variant 229161 RCV000214303 SCV000272325 228444 PRDM16 NM_022114.3:c.2089G>T NP_071397.3:p.Ala697Ser NM_022114.3:c.2089G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-07-22 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-22 -1 3412288 A T 3412288 3412288 + Variant 227028 RCV000215257 SCV000269725 228445 PRDM16 NM_022114.3:c.2091A>T NP_071397.3:p.Ala697= NM_022114.3:c.2091A>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2014-11-24 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 -1 3412288 A T 3412288 3412288 + Variant 227028 RCV000470201 SCV000556959 228445 PRDM16 NM_022114.3:c.2091A>T NP_071397.3:p.Ala697= NM_022114.3:c.2091A>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-12-27 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-27 -1 3412297 C T 3412297 3412297 + Variant 220733 RCV000204005 SCV000261518 221096 PRDM16 NM_022114.3:c.2100C>T NP_071397.3:p.Ala700= NM_022114.3:c.2100C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-11-25 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-11-25 -1 3412301 A T 3412301 3412301 + Variant 60724 RCV000054518 SCV000082996 75284 PRDM16 NM_022114.3:c.2104A>T NP_071397.3:p.Lys702Ter NM_022114.3:c.2104A>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-07-11 OMIM OMIM Left ventricular noncompaction 8;LEFT VENTRICULAR NONCOMPACTION 8 23768516 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2013-07-11 -1 3412323 T C 3412323 3412323 + Variant 426184 RCV000489210 SCV000576566 414795 PRDM16 NM_022114.3:c.2126T>C NP_071397.3:p.Met709Thr NM_022114.3:c.2126T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-27 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-27 -1 3412327 G A 3412327 3412327 + Variant 241424 RCV000232265 SCV000290644 238272 PRDM16 NM_022114.3:c.2130G>A NP_071397.3:p.Gly710= NM_022114.3:c.2130G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-03-29 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-29 -1 3412339 G A 3412339 3412339 + Variant 413867 RCV000462221 SCV000556975 391195 PRDM16 NM_022114.3:c.2142G>A NP_071397.3:p.Lys714= NM_022114.3:c.2142G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-05-28 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-05-28 -1 3412369 G A 3412369 3412369 + Variant 391055 RCV000418130 SCV000534030 365033 PRDM16 NM_022114.3:c.2172G>A NP_071397.3:p.Ala724= NM_022114.3:c.2172G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-21 -1 3412478 G A 3412478 3412478 + Variant 406239 RCV000461410 SCV000544790 391197 PRDM16 NM_022114.3:c.2281G>A NP_071397.3:p.Ala761Thr NM_022114.3:c.2281G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-14 -1 3412487 G A 3412487 3412487 + Variant 229162 RCV000217269 SCV000272326;SCV000530498 228446 PRDM16 NM_022114.3:c.2290G>A NP_071397.3:p.Val764Met NM_022114.3:c.2290G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-12-12 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-10-20;2016-12-12 -1 3412487 G A 3412487 3412487 + Variant 229162 RCV000226109 SCV000290645 228446 PRDM16 NM_022114.3:c.2290G>A NP_071397.3:p.Val764Met NM_022114.3:c.2290G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-18 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-18 -1 3412576 G A 3412576 3412576 + Variant 413873 RCV000473649 SCV000556985 391232 PRDM16 NM_022114.3:c.2379G>A NP_071397.3:p.Ser793= NM_022114.3:c.2379G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-12-25 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-25 -1 3412583 G A 3412583 3412583 + Variant 424068 RCV000478115 SCV000573845 405162 PRDM16 NM_022114.3:c.2386G>A NP_071397.3:p.Ala796Thr NM_022114.3:c.2386G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-10 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-10 -1 3412603 G A 3412603 3412603 + Variant 390010 RCV000438891 SCV000532721 365036 PRDM16 NM_022114.3:c.2406G>A NP_071397.3:p.Pro802= NM_022114.3:c.2406G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-14 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-14 -1 3412631 C T 3412631 3412631 + Variant 229163 RCV000221476 SCV000272327 228447 PRDM16 NM_022114.3:c.2434C>T NP_071397.3:p.Arg812Cys NM_022114.3:c.2434C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-04-02 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-02 -1 3412640 C T 3412640 3412640 + Variant 406222 RCV000468700 SCV000544765 391182 PRDM16 NM_022114.3:c.2443C>T NP_071397.3:p.Gln815Ter NM_022114.3:c.2443C>T:nonsense Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-24 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-04-24 -1 3412644 A G 3412644 3412644 + Variant 60726 RCV000054520 SCV000082998 75286 PRDM16 NM_022114.3:c.2447A>G NP_071397.3:p.Asn816Ser NM_022114.3:c.2447A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-07-11 OMIM OMIM Left ventricular noncompaction 8;LEFT VENTRICULAR NONCOMPACTION 8 23768516 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2013-07-11 -1 3412645 C T 3412645 3412645 + Variant 388234 RCV000421212 SCV000530495 365129 PRDM16 NM_022114.3:c.2448C>T NP_071397.3:p.Asn816= NM_022114.3:c.2448C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-04-24 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-24 -1 3412645 C T 3412645 3412645 + Variant 388234 RCV000471531 SCV000556976 365129 PRDM16 NM_022114.3:c.2448C>T NP_071397.3:p.Asn816= NM_022114.3:c.2448C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-09 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-09 -1 3412646 G A 3412646 3412646 + Variant 241425 RCV000230075 SCV000290646 238273 PRDM16 NM_022114.3:c.2449G>A NP_071397.3:p.Gly817Ser NM_022114.3:c.2449G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-02-15 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-02-15 -1 3412649 G A 3412649 3412649 + Variant 241426 RCV000232966 SCV000290647 238274 PRDM16 NM_022114.3:c.2452G>A NP_071397.3:p.Gly818Ser NM_022114.3:c.2452G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-16 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-16 -1 3412649 G A 3412649 3412649 + Variant 241426 RCV000418666 SCV000532573 238274 PRDM16 NM_022114.3:c.2452G>A NP_071397.3:p.Gly818Ser NM_022114.3:c.2452G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-11 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-11 -1 3412664 C T 3412664 3412664 + Variant 406245 RCV000471354 SCV000544797 391233 PRDM16 NM_022114.3:c.2467C>T NP_071397.3:p.Arg823Cys NM_022114.3:c.2467C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-07 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-07 -1 3412665 G C 3412665 3412665 + Variant 227865 RCV000223185 SCV000533889;SCV000270755 228448 PRDM16 NM_022114.3:c.2468G>C NP_071397.3:p.Arg823Pro NM_022114.3:c.2468G>C:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2017-05-26 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266;26350513 germline MedGen:CN169374 2016-01-13;2017-05-26 -1 3412665 G C 3412665 3412665 + Variant 227865 RCV000226799 SCV000290648 228448 PRDM16 NM_022114.3:c.2468G>C NP_071397.3:p.Arg823Pro NM_022114.3:c.2468G>C:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-04 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-04 -1 3412699 C T 3412699 3412699 + Variant 227029 RCV000219694 SCV000269726;SCV000520302 228449 PRDM16 NM_022114.3:c.2502C>T NP_071397.3:p.Gly834= NM_022114.3:c.2502C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-06 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-11;2016-10-06 -1 3412703 G A 3412703 3412703 + Variant 227030 RCV000221333 SCV000269727 228450 PRDM16 NM_022114.3:c.2506G>A NP_071397.3:p.Gly836Ser NM_022114.3:c.2506G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2014-11-24 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 -1 3412703 G A 3412703 3412703 + Variant 227030 RCV000469328 SCV000556970 228450 PRDM16 NM_022114.3:c.2506G>A NP_071397.3:p.Gly836Ser NM_022114.3:c.2506G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-09-12 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-09-12 -1 3412733 C T 3412733 3412733 + Variant 406238 RCV000476374 SCV000544789 391237 PRDM16 NM_022114.3:c.2536C>T NP_071397.3:p.Arg846Trp NM_022114.3:c.2536C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-03 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 -1 3412773 C T 3412773 3412773 + Variant 229164 RCV000215161 SCV000492137;SCV000272328 228451 PRDM16 NM_022114.3:c.2576C>T NP_071397.3:p.Ser859Leu NM_022114.3:c.2576C>T:missense variant Uncertain significance uncertain significance;uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-11-28 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-06-10;2016-11-28 -1 3412773 C T 3412773 3412773 + Variant 229164 RCV000468206 SCV000544791 228451 PRDM16 NM_022114.3:c.2576C>T NP_071397.3:p.Ser859Leu NM_022114.3:c.2576C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-04-07 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-04-07 -1 3412820 C T 3412820 3412820 + Variant 381194 RCV000433986 SCV000520306 365234 PRDM16 NM_022114.3:c.2603+20C>T NM_022114.3:c.2603+20C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-09-23 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-23 -1 3414590 C T 3414590 3414590 + Variant 227866 RCV000216924 SCV000530820;SCV000270756 228452 PRDM16 NM_022114.3:c.2634C>T NP_071397.3:p.Pro878= NM_022114.3:c.2634C>T:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2017-04-25 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-10-22;2017-04-25 -1 3414590 C T 3414590 3414590 + Variant 227866 RCV000469880 SCV000556979 228452 PRDM16 NM_022114.3:c.2634C>T NP_071397.3:p.Pro878= NM_022114.3:c.2634C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-10 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-10 -1 3414591 G A 3414591 3414591 + Variant 432243 RCV000498032 SCV000589953 425366 PRDM16 NM_022114.3:c.2635G>A NP_071397.3:p.Val879Met NM_022114.3:c.2635G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-05 -1 3414602 G A 3414602 3414602 + Variant 413866 RCV000467739 SCV000556973 391194 PRDM16 NM_022114.3:c.2646G>A NP_071397.3:p.Leu882= NM_022114.3:c.2646G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-26 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-26 -1 3414616 T C 3414616 3414616 + Variant 60729 RCV000054523 SCV000083001 75289 PRDM16 NM_022114.3:c.2660T>C NP_071397.3:p.Leu887Pro NM_022114.3:c.2660T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2013-07-11 OMIM OMIM Dilated cardiomyopathy 1LL;CARDIOMYOPATHY, DILATED, 1LL 23768516 germline MedGen:CN178850;OMIM:615373 2013-07-11 -1 3414629 G A 3414629 3414629 + Variant 227031 RCV000215017 SCV000525688;SCV000269728 228453 PRDM16 NM_022114.3:c.2673G>A NP_071397.3:p.Pro891= NM_022114.3:c.2673G>A:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-10-11 -1 3414629 G A 3414629 3414629 + Variant 227031 RCV000475588 SCV000556954 228453 PRDM16 NM_022114.3:c.2673G>A NP_071397.3:p.Pro891= NM_022114.3:c.2673G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-23 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-23 -1 3414652 G A 3414652 3414652 + Variant 390179 RCV000437038 SCV000532947 365238 PRDM16 NM_022114.3:c.2691+5G>A NM_022114.3:c.2691+5G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-21 -1 3417818 A G 3417818 3417818 + Variant 390108 RCV000434063 SCV000532849 365235 PRDM16 NM_022114.3:c.2692-10A>G NM_022114.3:c.2692-10A>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-19 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-19 -1 3417818 A G 3417818 3417818 + Variant 390108 RCV000457891 SCV000556963 365235 PRDM16 NM_022114.3:c.2692-10A>G NM_022114.3:c.2692-10A>G:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-06-21 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-21 -1 3417877 T C 3417877 3417877 + Variant 241427 RCV000229654 SCV000290649 238275 PRDM16 NM_022114.3:c.2741T>C NP_071397.3:p.Met914Thr NM_022114.3:c.2741T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-12-17 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-12-17 -1 3417877 T C 3417877 3417877 + Variant 241427 RCV000493075 SCV000582942 238275 PRDM16 NM_022114.3:c.2741T>C NP_071397.3:p.Met914Thr NM_022114.3:c.2741T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-14 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-14 -1 3417883 C T 3417883 3417883 + Variant 218791 RCV000203205 SCV000258183 215209 PRDM16 NM_022114.3:c.2747C>T NP_071397.3:p.Ala916Val NM_022114.3:c.2747C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-04-12 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;Not specified unknown MedGen:CN169374 2015-04-12 -1 3417916 A C 3417916 3417916 + Variant 373755 RCV000413206 SCV000492376 359242 PRDM16 NM_022114.3:c.2780A>C NP_071397.3:p.His927Pro NM_022114.3:c.2780A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-09 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-09 -1 3417922 C A 3417922 3417922 + Variant 229165 RCV000219521 SCV000577100;SCV000272329 228454 PRDM16 NM_022114.3:c.2786C>A NP_071397.3:p.Pro929His NM_022114.3:c.2786C>A:missense variant Uncertain significance uncertain significance;uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2017-04-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-21;2017-04-11 -1 3417929 C T 3417929 3417929 + Variant 227032 RCV000219295 SCV000531702;SCV000269729 228455 PRDM16 NM_022114.3:c.2793C>T NP_071397.3:p.Asn931= NM_022114.3:c.2793C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-10 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-10-10 -1 3417929 C T 3417929 3417929 + Variant 227032 RCV000233639 SCV000290650 228455 PRDM16 NM_022114.3:c.2793C>T NP_071397.3:p.Asn931= NM_022114.3:c.2793C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-18 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-18 -1 3417941 A ACC 3417945 3417946 + Variant 229166 RCV000221072 SCV000272330 228456 PRDM16 NM_022114.3:c.2809_2810dupCC NP_071397.3:p.Thr938Glnfs NM_022114.3:c.2809_2810dupCC:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-03-02 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-03-02 -1 3417945 C G 3417945 3417945 + Variant 406243 RCV000475724 SCV000544795 391199 PRDM16 NM_022114.3:c.2809C>G NP_071397.3:p.Pro937Ala NM_022114.3:c.2809C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-30 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-30 -1 3417949 C T 3417949 3417949 + Variant 406242 RCV000471782 SCV000544794 391196 PRDM16 NM_022114.3:c.2813C>T NP_071397.3:p.Thr938Met NM_022114.3:c.2813C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-02 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-02 -1 3417951 C G 3417951 3417951 + Variant 373801 RCV000414615 SCV000492424 359349 PRDM16 NM_022114.3:c.2815C>G NP_071397.3:p.Leu939Val NM_022114.3:c.2815C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-12-14 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-14 -1 3417951 C G 3417951 3417951 + Variant 373801 RCV000474992 SCV000556974 359349 PRDM16 NM_022114.3:c.2815C>G NP_071397.3:p.Leu939Val NM_022114.3:c.2815C>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-05-22 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-05-22 -1 3417992 G A 3417992 3417992 + Variant 227867 RCV000219939 SCV000270757 228457 PRDM16 NM_022114.3:c.2856G>A NP_071397.3:p.Thr952= NM_022114.3:c.2856G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-03-21 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-21 -1 3425563 C T 3425563 3425563 + Variant 392369 RCV000419766 SCV000535630 365132 PRDM16 NM_022114.3:c.2940-18C>T NM_022114.3:c.2940-18C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-01-05 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-05 -1 3425564 G A 3425564 3425564 + Variant 386315 RCV000441639 SCV000527895 365137 PRDM16 NM_022114.3:c.2940-17G>A NM_022114.3:c.2940-17G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-09-28 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-28 -1 3425566 G A 3425566 3425566 + Variant 229167 RCV000214743 SCV000272331 228458 PRDM16 NM_022114.3:c.2940-15G>A NM_022114.3:c.2940-15G>A:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2015-07-23 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-23 -1 3425594 G A 3425594 3425594 + Variant 373270 RCV000413640 SCV000491853 359356 PRDM16 NM_022114.3:c.2953G>A NP_071397.3:p.Asp985Asn NM_022114.3:c.2953G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-21 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-21 -1 3425743 C T 3425743 3425743 + Variant 241428 RCV000226908 SCV000290651 238276 PRDM16 NM_022114.3:c.3102C>T NP_071397.3:p.Asn1034= NM_022114.3:c.3102C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-10-08 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-08 -1 3425743 C T 3425743 3425743 + Variant 241428 RCV000444388 SCV000521409 238276 PRDM16 NM_022114.3:c.3102C>T NP_071397.3:p.Asn1034= NM_022114.3:c.3102C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2017-06-23 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-23 -1 3425760 G A 3425760 3425760 + Variant 227033 RCV000223403 SCV000269730;SCV000529354 228459 PRDM16 NM_022114.3:c.3109+10G>A NM_022114.3:c.3109+10G>A:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-12-05 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-12-05 -1 3425760 G A 3425760 3425760 + Variant 227033 RCV000460045 SCV000556969 228459 PRDM16 NM_022114.3:c.3109+10G>A NM_022114.3:c.3109+10G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2017-01-18 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-18 -1 3425762 G C 3425762 3425762 + Variant 227868 RCV000213653 SCV000270758;SCV000525750 228460 PRDM16 NM_022114.3:c.3109+12G>C NM_022114.3:c.3109+12G>C:intron variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-27 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-07-08;2016-10-27 -1 3426047 G A 3426047 3426047 + Variant 227869 RCV000217996 SCV000270759 228461 PRDM16 NM_022114.3:c.3110-4G>A NM_022114.3:c.3110-4G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-04-16 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-16 -1 3426047 G A 3426047 3426047 + Variant 227869 RCV000465584 SCV000556967 228461 PRDM16 NM_022114.3:c.3110-4G>A NM_022114.3:c.3110-4G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-07-15 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-15 -1 3426065 G A 3426065 3426065 + Variant 426514 RCV000490016 SCV000576974 414796 PRDM16 NM_022114.3:c.3124G>A NP_071397.3:p.Gly1042Arg NM_022114.3:c.3124G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-04-13 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-13 -1 3426070 C T 3426070 3426070 + Variant 241429 RCV000230873 SCV000290652 238277 PRDM16 NM_022114.3:c.3129C>T NP_071397.3:p.Val1043= NM_022114.3:c.3129C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-11-25 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-11-25 -1 3426071 C T 3426071 3426071 + Variant 227034 RCV000215790 SCV000269731;SCV000528022 228462 PRDM16 NM_022114.3:c.3130C>T NP_071397.3:p.Leu1044Phe NM_022114.3:c.3130C>T:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-12-27 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-12-27 -1 3426071 C T 3426071 3426071 + Variant 227034 RCV000232612 SCV000290653 228462 PRDM16 NM_022114.3:c.3130C>T NP_071397.3:p.Leu1044Phe NM_022114.3:c.3130C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-04-16 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-04-16 -1 3426076 G A 3426076 3426076 + Variant 227870 RCV000220998 SCV000270760 228463 PRDM16 NM_022114.3:c.3135G>A NP_071397.3:p.Thr1045= NM_022114.3:c.3135G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-05-06 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-05-06 -1 3426080 C A 3426080 3426080 + Variant 423292 RCV000486279 SCV000572969 405163 PRDM16 NM_022114.3:c.3139C>A NP_071397.3:p.His1047Asn NM_022114.3:c.3139C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2017-02-06 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-06 -1 3426210 C T 3426210 3426210 + Variant 241430 RCV000227583 SCV000290654 238278 PRDM16 NM_022114.3:c.3269C>T NP_071397.3:p.Thr1090Met NM_022114.3:c.3269C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-03-12 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-12 -1 3426211 G A 3426211 3426211 + Variant 413871 RCV000458810 SCV000556983 391340 PRDM16 NM_022114.3:c.3270G>A NP_071397.3:p.Thr1090= NM_022114.3:c.3270G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-26 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-26 -1 3426240 G T 3426240 3426240 + Variant 227035 RCV000218772 SCV000520303;SCV000269732 228464 PRDM16 NM_022114.3:c.3284+15G>T NM_022114.3:c.3284+15G>T:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-09-23 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-23 -1 3430888 G A 3430888 3430888 + Variant 60727 RCV000054521 SCV000082999 75287 PRDM16 NM_022114.3:c.3301G>A NP_071397.3:p.Val1101Met NM_022114.3:c.3301G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided 2013-07-11 OMIM OMIM Dilated cardiomyopathy 1LL;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE 23768516;27535533 germline MedGen:CN178850;OMIM:615373 2013-07-11 -1 3430888 G A 3430888 3430888 + Variant 60727 RCV000204421 SCV000262005 75287 PRDM16 NM_022114.3:c.3301G>A NP_071397.3:p.Val1101Met NM_022114.3:c.3301G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-10-31 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-10-31 -1 3430888 G A 3430888 3430888 + Variant 60727 RCV000223010 SCV000269733 75287 PRDM16 NM_022114.3:c.3301G>A NP_071397.3:p.Val1101Met NM_022114.3:c.3301G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2015-04-29 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-29 -1 3430950 G GGAC 3430956 3430958 + Variant 413868 RCV000475206 SCV000556977 391341 PRDM16 NM_022114.3:c.3369_3371dupCGA NP_071397.3:p.Asp1125_Leu1126insAsp Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-12-14 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-14 -1 3430953 C T 3430953 3430953 + Variant 227871 RCV000213381 SCV000270761 228465 PRDM16 NM_022114.3:c.3366C>T NP_071397.3:p.Asp1122= NM_022114.3:c.3366C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2015-08-13 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-08-13 -1 3430956 C T 3430956 3430956 + Variant 227036 RCV000216881 SCV000529327;SCV000269734 228466 PRDM16 NM_022114.3:c.3369C>T NP_071397.3:p.Asp1123= NM_022114.3:c.3369C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter 2016-10-06 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-10-06 -1 3430956 C T 3430956 3430956 + Variant 227036 RCV000230406 SCV000290655 228466 PRDM16 NM_022114.3:c.3369C>T NP_071397.3:p.Asp1123= NM_022114.3:c.3369C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter 2016-09-16 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-09-16 -1 3431029 G A 3431029 3431029 + Variant 406233 RCV000460254 SCV000544784 391240 PRDM16 NM_022114.3:c.3442G>A NP_071397.3:p.Glu1148Lys NM_022114.3:c.3442G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-11-18 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-18 -1 3431031 G A 3431031 3431031 + Variant 413862 RCV000464489 SCV000556964 391206 PRDM16 NM_022114.3:c.3444G>A NP_071397.3:p.Glu1148= NM_022114.3:c.3444G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-08-30 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-30 -1 3431041 G A 3431041 3431041 + Variant 406235 RCV000473925 SCV000544786 391207 PRDM16 NM_022114.3:c.3454G>A NP_071397.3:p.Ala1152Thr NM_022114.3:c.3454G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter 2016-08-16 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-16 -1 3432065 A T 3432065 3432065 + Variant 241431 RCV000234393 SCV000290656 238279 PRDM16 NM_022114.3:c.3621A>T NP_071397.3:p.Glu1207Asp NM_022114.3:c.3621A>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-02-24 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-02-24 -1 3432131 T C 3432131 3432131 + Variant 227037 RCV000219826 SCV000269735;SCV000533646 228467 PRDM16 NM_022114.3:c.3687T>C NP_071397.3:p.Ala1229= NM_022114.3:c.3687T>C:synonymous variant Conflicting interpretations of pathogenicity benign;likely benign 0 0 0 1 1 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter 2016-11-11 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-11-11 -1 3432151 G A 3432151 3432151 + Variant 390334 RCV000438994 SCV000533136 365138 PRDM16 NM_022114.3:c.3696+11G>A NM_022114.3:c.3696+11G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-25 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-25 -1 3433730 C T 3433730 3433730 + Variant 413860 RCV000456779 SCV000556960 391209 PRDM16 NM_022114.3:c.3750C>T NP_071397.3:p.Ser1250= NM_022114.3:c.3750C>T:synonymous variant;NM_199454.2:c.3697-4C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-11-03 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 -1 3433813 G A 3433813 3433813 + Variant 389898 RCV000440648 SCV000532578 365038 PRDM16 NM_022114.3:c.*2G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-10-12 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-12 -1 3816372 T C 3816372 3816372 - Variant 221277 RCV000207283 SCV000262599 222988 CEP104 NM_014704.3:c.2572-2A>G NM_014704.3:c.2572-2A>G:splice acceptor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-02 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 -1 3835079 T TA 3835081 3835082 - Variant 221275 RCV000207071 SCV000262597 222986 CEP104 NM_014704.3:c.1328_1329insT NP_055519.1:p.Tyr444Leufs NM_014704.3:c.1328_1329insT:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-02 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 -1 3839606 A G 3839606 3839606 - Variant 221274 RCV000207253 SCV000262596 222985 CEP104 NM_014704.3:c.735+2T>C NM_014704.3:c.735+2T>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-02 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546;7 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 -1 3844977 G A 3844977 3844977 - Variant 221276 RCV000207197 SCV000262598 222987 CEP104 NM_014704.3:c.496C>T NP_055519.1:p.Arg166Ter NM_014704.3:c.496C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided 2016-02-02 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 -1 3852358 TC T 3852359 3852359 - Variant 434718 RCV000501850 SCV000594034 427813 CEP104 NM_014704.3:c.49delG NP_055519.1:p.Asp17Thrfs NM_014704.3:c.49delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter 2017-03-29 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago Joubert syndrome 25;Joubert syndrome 25 20301500;25741868 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2017-03-29 -1 5862951 A C 5862951 5862951 - Variant 297781 RCV000273736 SCV000358382 283011 NPHP4 NM_015102.4:c.*314T>G NM_015102.4:c.*314T>G:3 prime UTR variant;NR_111987.1:n.5410T>G:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 -1 5862951 A C 5862951 5862951 - Variant 297781 RCV000332696 SCV000358383 283011 NPHP4 NM_015102.4:c.*314T>G NM_015102.4:c.*314T>G:3 prime UTR variant;NR_111987.1:n.5410T>G:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter 2016-06-14 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 diff --git a/output/b38/single/clinvar_alleles.single.b38.tsv.gz b/output/b38/single/clinvar_alleles.single.b38.tsv.gz index 133d7c3..d1550e0 100755 Binary files a/output/b38/single/clinvar_alleles.single.b38.tsv.gz and b/output/b38/single/clinvar_alleles.single.b38.tsv.gz differ diff --git a/output/b38/single/clinvar_alleles.single.b38.tsv.gz.tbi b/output/b38/single/clinvar_alleles.single.b38.tsv.gz.tbi index dc23c09..d80bdaf 100755 Binary files a/output/b38/single/clinvar_alleles.single.b38.tsv.gz.tbi and b/output/b38/single/clinvar_alleles.single.b38.tsv.gz.tbi differ diff --git a/output/b38/single/clinvar_alleles.single.b38.vcf.gz b/output/b38/single/clinvar_alleles.single.b38.vcf.gz index 6254670..eb3729e 100755 Binary files a/output/b38/single/clinvar_alleles.single.b38.vcf.gz and b/output/b38/single/clinvar_alleles.single.b38.vcf.gz differ diff --git a/output/b38/single/clinvar_alleles.single.b38.vcf.gz.tbi b/output/b38/single/clinvar_alleles.single.b38.vcf.gz.tbi index daa21bd..a9e8117 100755 Binary files a/output/b38/single/clinvar_alleles.single.b38.vcf.gz.tbi and b/output/b38/single/clinvar_alleles.single.b38.vcf.gz.tbi differ diff --git a/output/b38/single/clinvar_alleles_example_750_rows.single.b38.tsv b/output/b38/single/clinvar_alleles_example_750_rows.single.b38.tsv index ae7f9d7..ccf39c5 100644 --- a/output/b38/single/clinvar_alleles_example_750_rows.single.b38.tsv +++ b/output/b38/single/clinvar_alleles_example_750_rows.single.b38.tsv @@ -1,159 +1,248 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_id symbol hgvs_c hgvs_p molecular_consequence clinical_significance clinical_significance_ordered pathogenic likely_pathogenic uncertain_significance likely_benign benign review_status review_status_ordered last_evaluated all_submitters submitters_ordered all_traits all_pmids inheritance_modes age_of_onset prevalence disease_mechanism origin xrefs dates_ordered gold_stars conflicted +1 1014042 G A 1014042 1014042 + Variant 475283 RCV000537631 SCV000655463 446939 ISG15 NM_005101.3:c.62G>A NP_005092.1:p.Ser21Asn NM_005101.3:c.62G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter May 26, 2017 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-05-26 1 0 1 1014143 C T 1014143 1014143 + Variant 183381 RCV000162196 SCV000212156 181485 ISG15 NM_005101.3:c.163C>T NP_005092.1:p.Gln55Ter NM_005101.3:c.163C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 01, 2015 OMIM OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 25307056 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2015-01-01 0 0 +1 1014217 C T 1014217 1014217 + Variant 475278 RCV000544298 SCV000655458 446987 ISG15 NM_005101.3:c.237C>T NP_005092.1:p.Asp79= NM_005101.3:c.237C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 15, 2017 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-06-15 1 0 1 1014228 G A 1014228 1014228 + Variant 402986 RCV000455759 SCV000539397 389314 ISG15 NM_005101.3:c.248G>A NP_005092.1:p.Ser83Asn NM_005101.3:c.248G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Mar 29, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified 24033266 germline MedGen:CN169374 2016-03-29 1 0 1 1014316 C CG 1014319 1014319 + Variant 161455 RCV000148989 SCV000196037 171289 ISG15 NM_005101.3:c.339dupG NP_005092.1:p.Leu114Alafs NM_005101.3:c.339dupG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 01, 2015 OMIM OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 1;22859821;25307056 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2015-01-01 0 0 1 1014359 G T 1014359 1014359 + Variant 161454 RCV000148988 SCV000196036 171288 ISG15 NM_005101.3:c.379G>T NP_005092.1:p.Glu127Ter NM_005101.3:c.379G>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 01, 2015 OMIM OMIM Immunodeficiency 38 with basal ganglia calcification;IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 22859821;25307056 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2015-01-01 0 0 -1 1020183 G C 1020183 1020183 + Variant 387476 RCV000424799 SCV000529531 364282 AGRN NM_198576.3:c.11G>C NP_940978.2:p.Arg4Pro NM_198576.3:c.11G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 15, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 1 0 -1 1020216 C G 1020216 1020216 + Variant 377270 RCV000422793 SCV000511620 364148 AGRN NM_198576.3:c.44C>G NP_940978.2:p.Pro15Arg NM_198576.3:c.44C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 03, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-02-03-06:00 1 0 +1 1014451 C T 1014451 1014451 + Variant 475281 RCV000543212 SCV000655461 446936 ISG15 NM_005101.3:c.471C>T NP_005092.1:p.Gly157= NM_005101.3:c.471C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 13, 2017 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-06-13 1 0 +1 1014471 G C 1014471 1014471 + Variant 475282 RCV000559328 SCV000655462 446981 ISG15 NM_005101.3:c.491G>C NP_005092.1:p.Arg164Pro NM_005101.3:c.491G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 04, 2017 Invitae Invitae Immunodeficiency 38 with basal ganglia calcification 28492532 germline MedGen:C4015293;OMIM:616126;Orphanet:319563 2017-08-04 1 0 +1 1020177 C A 1020177 1020177 + Variant 474165 RCV000550388 SCV000653986 446941 AGRN NM_198576.3:c.5C>A NP_940978.2:p.Ala2Asp NM_198576.3:c.5C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 22, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-22 1 0 +1 1020183 G C 1020183 1020183 + Variant 387476 RCV000424799;RCV000535257 SCV000529531;SCV000653873 364282 AGRN NM_198576.3:c.11G>C NP_940978.2:p.Arg4Pro NM_198576.3:c.11G>C:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 28, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-07-15;2017-06-28 2 0 +1 1020216 C G 1020216 1020216 + Variant 377270 RCV000422793 SCV000511620 364148 AGRN NM_198576.3:c.44C>G NP_940978.2:p.Pro15Arg NM_198576.3:c.44C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 03, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-02-03 1 0 1 1020217 G T 1020217 1020217 + Variant 128310 RCV000116272 SCV000150190;SCV000519170;SCV000317056 133759 AGRN NM_198576.3:c.45G>T NP_940978.2:p.Pro15= NM_198576.3:c.45G>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Feb 04, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 2014-08-29;0000-00-00;2016-02-04 2 0 1 1020221 C T 1020221 1020221 + Variant 388958 RCV000437701 SCV000531361 364285 AGRN NM_198576.3:c.49C>T NP_940978.2:p.Leu17Phe NM_198576.3:c.49C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 07, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-07 1 0 -1 1020239 G C 1020239 1020239 + Variant 210112 RCV000193277 SCV000317081;SCV000246342 206690 AGRN NM_198576.3:c.67G>C NP_940978.2:p.Val23Leu NM_198576.3:c.67G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Sep 29, 2014 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-09-29;0000-00-00 1 1 +1 1020239 G C 1020239 1020239 + Variant 210112 RCV000193277;RCV000527875 SCV000317081;SCV000246342;SCV000653990 206690 AGRN NM_198576.3:c.67G>C NP_940978.2:p.Val23Leu NM_198576.3:c.67G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign;benign 0 0 1 1 1 criteria provided, conflicting interpretations criteria provided, single submitter Aug 11, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2014-09-29;0000-00-00;2017-08-11 1 1 1 1022188 A G 1022188 1022188 + Variant 263166 RCV000250556 SCV000317015 249265 AGRN NM_198576.3:c.202-13A>G NM_198576.3:c.202-13A>G:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 1022225 G A 1022225 1022225 + Variant 243036 RCV000235037 SCV000292405 244110 AGRN NM_198576.3:c.226G>A NP_940978.2:p.Gly76Ser NM_198576.3:c.226G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347;24951643 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 0 0 -1 1022260 C T 1022260 1022260 + Variant 128296 RCV000116258 SCV000317028;SCV000150176 133745 AGRN NM_198576.3:c.261C>T NP_940978.2:p.Asp87= NM_198576.3:c.261C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 +1 1022260 C T 1022260 1022260 + Variant 128296 RCV000116258;RCV000550396 SCV000317028;SCV000150176;SCV000653894 133745 AGRN NM_198576.3:c.261C>T NP_940978.2:p.Asp87= NM_198576.3:c.261C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 11, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-11 2 0 1 1022313 A T 1022313 1022313 + Variant 243037 RCV000235021 SCV000292406 244111 AGRN NM_198576.3:c.314A>T NP_940978.2:p.Asn105Ile NM_198576.3:c.314A>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347;24951643 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 0 0 +1 1035307 C T 1035307 1035307 + Variant 474141 RCV000555748 SCV000653952 446942 AGRN NM_198576.3:c.494C>T NP_940978.2:p.Pro165Leu NM_198576.3:c.494C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-10-26 1 0 1 1040679 C T 1040679 1040679 + Variant 210111 RCV000195231 SCV000246341;SCV000317068 206691 AGRN NM_198576.3:c.526C>T NP_940978.2:p.Leu176= NM_198576.3:c.526C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Oct 28, 2014 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-10-28;0000-00-00 1 1 -1 1041174 C G 1041174 1041174 + Variant 263202 RCV000241878 SCV000317082 249305 AGRN NM_198576.3:c.729C>G NP_940978.2:p.Gly243= NM_198576.3:c.729C>G:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1041183 C T 1041183 1041183 + Variant 263203 RCV000246662 SCV000317083 249306 AGRN NM_198576.3:c.738C>T NP_940978.2:p.Asp246= NM_198576.3:c.738C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 1040732 G A 1040732 1040732 + Variant 474159 RCV000536149 SCV000653979 447009 AGRN NM_198576.3:c.579G>A NP_940978.2:p.Ala193= NM_198576.3:c.579G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Mar 24, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-24 1 0 +1 1040744 CAAG C 1040749 1040751 + Variant 474163 RCV000550064 SCV000653983 446960 AGRN NM_198576.3:c.596_598delAGA NP_940978.2:p.Lys199del Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 17, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-02-17 1 0 +1 1041174 C G 1041174 1041174 + Variant 263202 RCV000241878;RCV000540327 SCV000317082;SCV000653991 249305 AGRN NM_198576.3:c.729C>G NP_940978.2:p.Gly243= NM_198576.3:c.729C>G:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 11, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-11 2 0 +1 1041183 C T 1041183 1041183 + Variant 263203 RCV000246662;RCV000551940 SCV000317083;SCV000653992 249306 AGRN NM_198576.3:c.738C>T NP_940978.2:p.Asp246= NM_198576.3:c.738C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 02, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-02 2 0 1 1041197 T C 1041197 1041197 + Variant 430121 RCV000492793 SCV000582847 421151 AGRN NM_198576.3:c.752T>C NP_940978.2:p.Val251Ala NM_198576.3:c.752T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 22, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-22 1 0 -1 1041218 C T 1041218 1041218 + Variant 263204 RCV000249809 SCV000317084;SCV000593067 249307 AGRN NM_198576.3:c.773C>T NP_940978.2:p.Thr258Ile NM_198576.3:c.773C>T:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Nov 11, 2015 PreventionGenetics;Genetic Services Laboratory, University of Chicago PreventionGenetics;Genetic Services Laboratory, University of Chicago not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2015-11-11 2 0 -1 1041249 C T 1041249 1041249 + Variant 128320 RCV000116282 SCV000150200;SCV000526741 133769 AGRN NM_198576.3:c.804C>T NP_940978.2:p.Ala268= NM_198576.3:c.804C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 20, 2016 GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;GeneDx not specified;AllHighlyPenetrant;not specified 18414213 germline MedGen:CN169374 2013-08-15;2016-09-20 2 0 +1 1041218 C T 1041218 1041218 + Variant 263204 RCV000249809;RCV000532513 SCV000317084;SCV000593067;SCV000653993 249307 AGRN NM_198576.3:c.773C>T NP_940978.2:p.Thr258Ile NM_198576.3:c.773C>T:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 11, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2015-11-11;2017-08-11 2 0 +1 1041249 C T 1041249 1041249 + Variant 128320 RCV000116282;RCV000545263 SCV000150200;SCV000612304;SCV000526741;SCV000653994 133769 AGRN NM_198576.3:c.804C>T NP_940978.2:p.Ala268= NM_198576.3:c.804C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 04, 2017 Athena Diagnostics Inc;GeneDx;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;GeneDx;Athena Diagnostics Inc;Invitae not specified;AllHighlyPenetrant;Myasthenic syndrome, congenital, 8 18414213;26467025;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2013-08-15;2016-09-20;2016-06-16;2017-08-04 2 0 +1 1041274 C T 1041274 1041274 + Variant 474169 RCV000553169 SCV000653995 446994 AGRN NM_198576.3:c.829C>T NP_940978.2:p.Arg277Cys NM_198576.3:c.829C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 18, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-18 1 0 +1 1041579 C G 1041579 1041579 + Variant 474095 RCV000533556 SCV000653867 446995 AGRN NM_198576.3:c.1054C>G NP_940978.2:p.Arg352Gly NM_198576.3:c.1054C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 23, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-23 1 0 1 1041582 C T 1041582 1041582 + Variant 126556 RCV000114428;RCV000235030 SCV000148370;SCV000292407 132069 AGRN NM_198576.3:c.1057C>T NP_940978.2:p.Gln353Ter NM_198576.3:c.1057C>T:nonsense Pathogenic pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 OMIM;GeneReviews OMIM;GeneReviews Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8;Congenital myasthenic syndrome 20301347;22205389 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590;MedGen:C0751882;OMIM:PS601462 2012-07-01;2016-07-14 0 0 -1 1041583 A G 1041583 1041583 + Variant 128291 RCV000116253 SCV000150171;SCV000529532 133740 AGRN NM_198576.3:c.1058A>G NP_940978.2:p.Gln353Arg NM_198576.3:c.1058A>G:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Nov 10, 2016 GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;GeneDx not specified;AllHighlyPenetrant;not specified germline MedGen:CN169374 0000-00-00;2016-11-10 1 0 -1 1041648 G T 1041648 1041648 + Variant 263158 RCV000243499;RCV000430046 SCV000334297;SCV000317005;SCV000593068;SCV000511758 249308 AGRN NM_198576.3:c.1123G>T NP_940978.2:p.Ala375Ser NM_198576.3:c.1123G>T:missense variant Likely benign likely benign 0 0 0 4 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Feb 02, 2017 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Genetic Services Laboratory, University of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Genetic Services Laboratory, University of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;NOT SPECIFIED;not provided 25741868 germline MedGen:CN169374;MedGen:CN221809 0000-00-00;2015-09-14;2017-02-02;2016-12-30-06:00 2 0 +1 1041583 A G 1041583 1041583 + Variant 128291 RCV000116253;RCV000545898 SCV000150171;SCV000529532;SCV000653868 133740 AGRN NM_198576.3:c.1058A>G NP_940978.2:p.Gln353Arg NM_198576.3:c.1058A>G:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 08, 2017 GeneDx;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;GeneDx;Invitae not specified;AllHighlyPenetrant;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-11-10;2017-08-08 2 0 +1 1041648 G T 1041648 1041648 + Variant 263158 RCV000243499;RCV000430046;RCV000557729 SCV000334297;SCV000317005;SCV000593068;SCV000511758;SCV000653869 249308 AGRN NM_198576.3:c.1123G>T NP_940978.2:p.Ala375Ser NM_198576.3:c.1123G>T:missense variant Benign/Likely benign likely benign;benign 0 0 0 4 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 08, 2017 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Genetic Services Laboratory, University of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Genetic Services Laboratory, University of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae not specified;NOT SPECIFIED;not provided;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;MedGen:CN517202;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2015-09-14;2017-02-02;2016-12-30;2017-08-08 2 0 +1 1041655 G A 1041655 1041655 + Variant 474096 RCV000533895 SCV000653870 447000 AGRN NM_198576.3:c.1130G>A NP_940978.2:p.Arg377Gln NM_198576.3:c.1130G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 05, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 1 0 +1 1041670 A G 1041670 1041670 + Variant 474097 RCV000546257 SCV000653871 447003 AGRN NM_198576.3:c.1145A>G NP_940978.2:p.Gln382Arg NM_198576.3:c.1145A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 24, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-24 1 0 1 1041950 T C 1041950 1041950 + Variant 128292 RCV000116254 SCV000150172;SCV000519171;SCV000317006 133741 AGRN NM_198576.3:c.1178-6T>C NM_198576.3:c.1178-6T>C:intron variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 2 0 +1 1041976 C T 1041976 1041976 + Variant 474098 RCV000558783 SCV000653872 447005 AGRN NM_198576.3:c.1198C>T NP_940978.2:p.Arg400Trp NM_198576.3:c.1198C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 11, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-11 1 0 1 1042136 T TC 1042140 1042140 + Variant 243038 RCV000235036 SCV000292408 244112 AGRN NM_198576.3:c.1362dupC NP_940978.2:p.Ser455GlnfsTer8 NM_198576.3:c.1362dupC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 0 0 1 1042190 G A 1042190 1042190 + Variant 263159 RCV000251375 SCV000317007 249309 AGRN NM_198576.3:c.1384+28G>A NM_198576.3:c.1384+28G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 1043223 CCT C 1043224 1043225 + Variant 263160 RCV000244801 SCV000317008 249310 AGRN NM_198576.3:c.1385-15_1385-14delCT NM_198576.3:c.1385-15_1385-14delCT:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jan 27, 2016 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2016-01-27 1 0 1 1043248 C T 1043248 1043248 + Variant 263161 RCV000249555 SCV000317009 249311 AGRN NM_198576.3:c.1394C>T NP_940978.2:p.Pro465Leu NM_198576.3:c.1394C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1043288 G A 1043288 1043288 + Variant 263162 RCV000254334 SCV000317010 249312 AGRN NM_198576.3:c.1434G>A NP_940978.2:p.Thr478= NM_198576.3:c.1434G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1043382 G A 1043382 1043382 + Variant 263163 RCV000244472 SCV000519329;SCV000317011 249313 AGRN NM_198576.3:c.1528G>A NP_940978.2:p.Gly510Ser NM_198576.3:c.1528G>A:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Oct 24, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-10-24 2 0 +1 1043249 G A 1043249 1043249 + Variant 474099 RCV000547860 SCV000653874 447016 AGRN NM_198576.3:c.1395G>A NP_940978.2:p.Pro465= NM_198576.3:c.1395G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-01 1 0 +1 1043255 A G 1043255 1043255 + Variant 474100 RCV000528299 SCV000653875 446944 AGRN NM_198576.3:c.1401A>G NP_940978.2:p.Pro467= NM_198576.3:c.1401A>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 06, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-06 1 0 +1 1043288 G A 1043288 1043288 + Variant 263162 RCV000254334;RCV000536310 SCV000317010;SCV000653876 249312 AGRN NM_198576.3:c.1434G>A NP_940978.2:p.Thr478= NM_198576.3:c.1434G>A:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 04, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-04 2 0 +1 1043382 G A 1043382 1043382 + Variant 263163 RCV000244472;RCV000548068 SCV000612295;SCV000519329;SCV000317011;SCV000653877 249313 AGRN NM_198576.3:c.1528G>A NP_940978.2:p.Gly510Ser NM_198576.3:c.1528G>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 11, 2017 PreventionGenetics;GeneDx;Athena Diagnostics Inc;Invitae PreventionGenetics;GeneDx;Athena Diagnostics Inc;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;26467025;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-10-24;2016-09-15;2017-08-11 2 0 +1 1043393 C T 1043393 1043393 + Variant 474101 RCV000528770 SCV000653878 447008 AGRN NM_198576.3:c.1539C>T NP_940978.2:p.Cys513= NM_198576.3:c.1539C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 28, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-28 1 0 +1 1043424 C T 1043424 1043424 + Variant 446814 RCV000516394 SCV000612296 440337 AGRN NM_198576.3:c.1570C>T NP_940978.2:p.Arg524Trp NM_198576.3:c.1570C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 12, 2016 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2016-10-12 1 0 1 1043476 G A 1043476 1043476 + Variant 263164 RCV000249242 SCV000317012 249314 AGRN NM_198576.3:c.1603+19G>A NM_198576.3:c.1603+19G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1043594 G A 1043594 1043594 + Variant 263165 RCV000254010 SCV000317013 249315 AGRN NM_198576.3:c.1660G>A NP_940978.2:p.Val554Met NM_198576.3:c.1660G>A:missense variant Benign/Likely benign benign 0 0 0 0 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Feb 23, 2017 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 2 0 +1 1043594 G A 1043594 1043594 + Variant 263165 RCV000254010;RCV000514542;RCV000541064 SCV000317013;SCV000609853;SCV000653879 249315 AGRN NM_198576.3:c.1660G>A NP_940978.2:p.Val554Met NM_198576.3:c.1660G>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 26, 2017 PreventionGenetics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae PreventionGenetics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae not specified;NOT SPECIFIED;not provided;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;MedGen:CN517202;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-02-23;2017-07-26 2 0 +1 1043655 A T 1043655 1043655 + Variant 474102 RCV000553694 SCV000653880 447013 AGRN NM_198576.3:c.1721A>T NP_940978.2:p.Tyr574Phe NM_198576.3:c.1721A>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 06, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-01-06 1 0 1 1043930 G A 1043930 1043930 + Variant 390111 RCV000443642 SCV000532853 364314 AGRN NM_198576.3:c.1906G>A NP_940978.2:p.Gly636Ser NM_198576.3:c.1906G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 20, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-20 1 0 -1 1044017 G A 1044017 1044017 + Variant 210106 RCV000192681 SCV000317014;SCV000246336 206692 AGRN NM_198576.3:c.1993G>A NP_940978.2:p.Glu665Lys NM_198576.3:c.1993G>A:missense variant Benign/Likely benign uncertain significance;likely benign 0 0 1 1 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Feb 13, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 18414213;25741868 germline MedGen:CN169374 2014-04-30;0000-00-00 2 0 -1 1044134 C G 1044134 1044134 + Variant 128293 RCV000116255 SCV000317016;SCV000150173 133742 AGRN NM_198576.3:c.2025C>G NP_940978.2:p.Gly675= NM_198576.3:c.2025C>G:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 -1 1044176 G A 1044176 1044176 + Variant 263167 RCV000245482 SCV000317017 249316 AGRN NM_198576.3:c.2067G>A NP_940978.2:p.Gln689= NM_198576.3:c.2067G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1044368 A T 1044368 1044368 + Variant 128294 RCV000116256 SCV000519187;SCV000317018;SCV000150174 133743 AGRN NM_198576.3:c.2183A>T NP_940978.2:p.Glu728Val NM_198576.3:c.2183A>T:missense variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter May 26, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-05-26 2 0 +1 1044017 G A 1044017 1044017 + Variant 210106 RCV000192681;RCV000525581 SCV000317014;SCV000246336;SCV000653881 206692 AGRN NM_198576.3:c.1993G>A NP_940978.2:p.Glu665Lys NM_198576.3:c.1993G>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 01, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-02-13;0000-00-00;2017-05-01 2 0 +1 1044134 C G 1044134 1044134 + Variant 128293 RCV000116255;RCV000542722 SCV000317016;SCV000150173;SCV000653882 133742 AGRN NM_198576.3:c.2025C>G NP_940978.2:p.Gly675= NM_198576.3:c.2025C>G:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 02, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-02 2 0 +1 1044176 G A 1044176 1044176 + Variant 263167 RCV000245482;RCV000555033 SCV000317017;SCV000653883 249316 AGRN NM_198576.3:c.2067G>A NP_940978.2:p.Gln689= NM_198576.3:c.2067G>A:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 19, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-07-19 2 0 +1 1044179 C T 1044179 1044179 + Variant 474103 RCV000531210 SCV000653884 447019 AGRN NM_198576.3:c.2070C>T NP_940978.2:p.Arg690= NM_198576.3:c.2070C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 26, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-26 1 0 +1 1044368 A T 1044368 1044368 + Variant 128294 RCV000116256;RCV000542916 SCV000519187;SCV000317018;SCV000150174;SCV000653885 133743 AGRN NM_198576.3:c.2183A>T NP_940978.2:p.Glu728Val NM_198576.3:c.2183A>T:missense variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 28, 2017 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 18414213;25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2013-08-15;0000-00-00;2016-05-26;2017-07-28 2 0 1 1044455 G A 1044455 1044455 + Variant 263168 RCV000242021 SCV000317019 249317 AGRN NM_198576.3:c.2254+16G>A NM_198576.3:c.2254+16G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1045172 G A 1045172 1045172 + Variant 263169 RCV000245180 SCV000317020 249318 AGRN NM_198576.3:c.2266G>A NP_940978.2:p.Ala756Thr NM_198576.3:c.2266G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 1045172 G A 1045172 1045172 + Variant 263169 RCV000245180;RCV000555482 SCV000317020;SCV000653886 249318 AGRN NM_198576.3:c.2266G>A NP_940978.2:p.Ala756Thr NM_198576.3:c.2266G>A:missense variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 01, 2016 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-12-01 2 0 1 1045177 G A 1045177 1045177 + Variant 263170 RCV000249944 SCV000317021 249319 AGRN NM_198576.3:c.2271G>A NP_940978.2:p.Pro757= NM_198576.3:c.2271G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 1045289 A G 1045289 1045289 + Variant 387477 RCV000419115 SCV000529533 364327 AGRN NM_198576.3:c.2371+12A>G NM_198576.3:c.2371+12A>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 15, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 1 0 -1 1045393 C T 1045393 1045393 + Variant 128295 RCV000116257 SCV000317022;SCV000150175 133744 AGRN NM_198576.3:c.2406C>T NP_940978.2:p.Gly802= NM_198576.3:c.2406C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 -1 1045444 G C 1045444 1045444 + Variant 190974 RCV000246474 SCV000317023;SCV000221340 188780 AGRN NM_198576.3:c.2457G>C NP_940978.2:p.Gly819= NM_198576.3:c.2457G>C:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 28, 2016 PreventionGenetics;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2016-09-28;0000-00-00 2 0 +1 1045393 C T 1045393 1045393 + Variant 128295 RCV000116257;RCV000531365 SCV000317022;SCV000150175;SCV000653887 133744 AGRN NM_198576.3:c.2406C>T NP_940978.2:p.Gly802= NM_198576.3:c.2406C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 02, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-02 2 0 +1 1045411 C T 1045411 1045411 + Variant 474104 RCV000543993 SCV000653888 447014 AGRN NM_198576.3:c.2424C>T NP_940978.2:p.Ala808= NM_198576.3:c.2424C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-10-26 1 0 +1 1045444 G C 1045444 1045444 + Variant 190974 RCV000246474;RCV000556816 SCV000317023;SCV000221340;SCV000653889 188780 AGRN NM_198576.3:c.2457G>C NP_940978.2:p.Gly819= NM_198576.3:c.2457G>C:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 11, 2017 PreventionGenetics;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;Invitae Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-09-28;0000-00-00;2017-08-11 2 0 1 1045460 C T 1045460 1045460 + Variant 210107 RCV000194095 SCV000246337 206693 AGRN NM_198576.3:c.2473C>T NP_940978.2:p.Arg825Cys NM_198576.3:c.2473C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 14, 2015 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-01-14 1 0 1 1045486 T C 1045486 1045486 + Variant 389918 RCV000443602 SCV000532604 364329 AGRN NM_198576.3:c.2499T>C NP_940978.2:p.Phe833= NM_198576.3:c.2499T>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 12, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-12 1 0 -1 1045488 G A 1045488 1045488 + Variant 387869 RCV000424274 SCV000530043 364336 AGRN NM_198576.3:c.2501G>A NP_940978.2:p.Arg834Gln NM_198576.3:c.2501G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-21 1 0 +1 1045488 G A 1045488 1045488 + Variant 387869 RCV000424274;RCV000545330 SCV000530043;SCV000653891 364336 AGRN NM_198576.3:c.2501G>A NP_940978.2:p.Arg834Gln NM_198576.3:c.2501G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 09, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-10-09;2017-07-17 2 0 +1 1045495 C T 1045495 1045495 + Variant 474105 RCV000533002 SCV000653890 446970 AGRN NM_198576.3:c.2508C>T NP_940978.2:p.Ile836= NM_198576.3:c.2508C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 25, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-25 1 0 +1 1045501 C T 1045501 1045501 + Variant 474106 RCV000557874 SCV000653892 446945 AGRN NM_198576.3:c.2514C>T NP_940978.2:p.Thr838= NM_198576.3:c.2514C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 02, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-02 1 0 1 1045568 C T 1045568 1045568 + Variant 263171 RCV000252843 SCV000317024 249320 AGRN NM_198576.3:c.2536+45C>T NM_198576.3:c.2536+45C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 1045707 A G 1045707 1045707 + Variant 263172 RCV000243014 SCV000317025 249321 AGRN NM_198576.3:c.2537-26A>G NM_198576.3:c.2537-26A>G:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1045751 A G 1045751 1045751 + Variant 263173 RCV000247794 SCV000317026 249322 AGRN NM_198576.3:c.2555A>G NP_940978.2:p.Gln852Arg NM_198576.3:c.2555A>G:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 1045751 A G 1045751 1045751 + Variant 263173 RCV000247794;RCV000537771 SCV000317026;SCV000653893 249322 AGRN NM_198576.3:c.2555A>G NP_940978.2:p.Gln852Arg NM_198576.3:c.2555A>G:missense variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 11, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-11 2 0 1 1045785 G A 1045785 1045785 + Variant 263174 RCV000252551 SCV000317027 249323 AGRN NM_198576.3:c.2589G>A NP_940978.2:p.Thr863= NM_198576.3:c.2589G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 1045846 C T 1045846 1045846 + Variant 390809 RCV000425529 SCV000533733 364315 AGRN NM_198576.3:c.2650C>T NP_940978.2:p.Arg884Cys NM_198576.3:c.2650C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 18, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-18 1 0 +1 1045847 G A 1045847 1045847 + Variant 474107 RCV000558118 SCV000653895 447023 AGRN NM_198576.3:c.2651G>A NP_940978.2:p.Arg884His NM_198576.3:c.2651G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 26, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-26 1 0 1 1045948 C G 1045948 1045948 + Variant 263175 RCV000249068 SCV000317029 249324 AGRN NM_198576.3:c.2681-16C>G NM_198576.3:c.2681-16C>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1045965 C T 1045965 1045965 + Variant 263176 RCV000252248 SCV000317030 249325 AGRN NM_198576.3:c.2682C>T NP_940978.2:p.Asp894= NM_198576.3:c.2682C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1045973 C T 1045973 1045973 + Variant 235570 RCV000224244 SCV000281252 237251 AGRN NM_198576.3:c.2690C>T NP_940978.2:p.Ala897Val NM_198576.3:c.2690C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 21, 2015 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2015-12-21-06:00 1 0 +1 1045965 C T 1045965 1045965 + Variant 263176 RCV000252248;RCV000534291 SCV000317030;SCV000653896 249325 AGRN NM_198576.3:c.2682C>T NP_940978.2:p.Asp894= NM_198576.3:c.2682C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 25, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-07-25 2 0 +1 1045973 C T 1045973 1045973 + Variant 235570 RCV000224244;RCV000517312;RCV000551727 SCV000281252;SCV000612297;SCV000653897 237251 AGRN NM_198576.3:c.2690C>T NP_940978.2:p.Ala897Val NM_198576.3:c.2690C>T:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 2 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Mar 28, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Athena Diagnostics Inc;Invitae Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Athena Diagnostics Inc;Invitae not provided;not specified;Myasthenic syndrome, congenital, 8 25741868;26467025;20301347;28492532 germline MedGen:CN517202;MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2015-12-21;2017-03-24;2017-03-28 1 1 +1 1045996 C T 1045996 1045996 + Variant 474108 RCV000527891 SCV000653898 447015 AGRN NM_198576.3:c.2713C>T NP_940978.2:p.Arg905Cys NM_198576.3:c.2713C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 26, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-26 1 0 +1 1046020 G A 1046020 1046020 + Variant 474109 RCV000540198 SCV000653899 447029 AGRN NM_198576.3:c.2737G>A NP_940978.2:p.Val913Met NM_198576.3:c.2737G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 08, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-08 1 0 1 1046079 C T 1046079 1046079 + Variant 263177 RCV000244043 SCV000317031 249326 AGRN NM_198576.3:c.2796C>T NP_940978.2:p.Asn932= NM_198576.3:c.2796C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1046095 G A 1046095 1046095 + Variant 434107 RCV000500875 SCV000593069 427605 AGRN NM_198576.3:c.2805+7G>A NM_198576.3:c.2805+7G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 02, 2016 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-09-02 1 0 +1 1046095 G A 1046095 1046095 + Variant 434107 RCV000500875;RCV000548272 SCV000593069;SCV000653900 427605 AGRN NM_198576.3:c.2805+7G>A NM_198576.3:c.2805+7G>A:intron variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 23, 2016 Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;Invitae not specified;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-09-02;2016-11-23 2 0 +1 1046155 C T 1046155 1046155 + Variant 474110 RCV000528205 SCV000653901 447031 AGRN NM_198576.3:c.2806-5C>T NM_198576.3:c.2806-5C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 19, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-01-19 1 0 +1 1046472 C A 1046472 1046472 + Variant 474111 RCV000540503 SCV000653902 447017 AGRN NM_198576.3:c.2987C>A NP_940978.2:p.Ala996Glu NM_198576.3:c.2987C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 31, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-31 1 0 1 1046488 C T 1046488 1046488 + Variant 263178 RCV000248800 SCV000317032 249327 AGRN NM_198576.3:c.3003C>T NP_940978.2:p.Pro1001= NM_198576.3:c.3003C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 1046524 C T 1046524 1046524 + Variant 474112 RCV000553127 SCV000653903 446946 AGRN NM_198576.3:c.3039C>T NP_940978.2:p.His1013= NM_198576.3:c.3039C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Apr 28, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-28 1 0 +1 1046531 A G 1046531 1046531 + Variant 474113 RCV000529551 SCV000653904 447026 AGRN NM_198576.3:c.3046A>G NP_940978.2:p.Thr1016Ala NM_198576.3:c.3046A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 06, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-06 1 0 1 1046551 A G 1046551 1046551 + Variant 128297 RCV000116259 SCV000519172;SCV000317033;SCV000150177 133746 AGRN NM_198576.3:c.3066A>G NP_940978.2:p.Ser1022= NM_198576.3:c.3066A>G:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 2 0 -1 1046562 C A 1046562 1046562 + Variant 263179 RCV000245361 SCV000317034 249328 AGRN NM_198576.3:c.3077C>A NP_940978.2:p.Thr1026Asn NM_198576.3:c.3077C>A:missense variant Benign/Likely benign benign 0 0 0 0 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Feb 23, 2017 PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 2 0 +1 1046562 C A 1046562 1046562 + Variant 263179 RCV000245361;RCV000514069;RCV000542147 SCV000317034;SCV000609941;SCV000653905 249328 AGRN NM_198576.3:c.3077C>A NP_940978.2:p.Thr1026Asn NM_198576.3:c.3077C>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 26, 2017 PreventionGenetics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae PreventionGenetics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae not specified;NOT SPECIFIED;not provided;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;MedGen:CN517202;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-02-23;2017-07-26 2 0 +1 1046638 C T 1046638 1046638 + Variant 474114 RCV000554460 SCV000653906 447034 AGRN NM_198576.3:c.3153C>T NP_940978.2:p.Ser1051= NM_198576.3:c.3153C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 19, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-19 1 0 1 1046824 C T 1046824 1046824 + Variant 387478 RCV000429389 SCV000529534 364294 AGRN NM_198576.3:c.3255C>T NP_940978.2:p.Leu1085= NM_198576.3:c.3255C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 15, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 1 0 -1 1046833 G C 1046833 1046833 + Variant 128298 RCV000116260;RCV000431747 SCV000150178;SCV000317035;SCV000511644 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jan 02, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Genetic Services Laboratory, University of Chicago;PreventionGenetics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;AllHighlyPenetrant;NOT SPECIFIED;not provided 25741868 germline MedGen:CN169374;MedGen:CN221809 0000-00-00;2017-01-02-06:00 2 0 +1 1046833 G C 1046833 1046833 + Variant 128298 RCV000116260;RCV000431747;RCV000530637 SCV000150178;SCV000612298;SCV000317035;SCV000511644;SCV000653907 133747 AGRN NM_198576.3:c.3264G>C NP_940978.2:p.Leu1088Phe NM_198576.3:c.3264G>C:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 3 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 02, 2017 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;not provided;Myasthenic syndrome, congenital, 8 19631309;25741868;26467025;20301347;28492532 germline MedGen:CN169374;MedGen:CN517202;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-11-07;2017-01-02;2017-08-02 2 0 +1 1046845 C T 1046845 1046845 + Variant 474115 RCV000546931 SCV000653908 447043 AGRN NM_198576.3:c.3276C>T NP_940978.2:p.Ser1092= NM_198576.3:c.3276C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 03, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-03 1 0 1 1046854 C G 1046854 1046854 + Variant 434108 RCV000502690 SCV000593070 427606 AGRN NM_198576.3:c.3285C>G NP_940978.2:p.Thr1095= NM_198576.3:c.3285C>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 11, 2016 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-04-11 1 0 +1 1046922 C A 1046922 1046922 + Variant 474116 RCV000559489 SCV000653909 446971 AGRN NM_198576.3:c.3353C>A NP_940978.2:p.Thr1118Lys NM_198576.3:c.3353C>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter May 19, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-19 1 0 +1 1046956 C T 1046956 1046956 + Variant 474117 RCV000530806 SCV000653910 446948 AGRN NM_198576.3:c.3387C>T NP_940978.2:p.Pro1129= NM_198576.3:c.3387C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 06, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-06 1 0 1 1046976 G A 1046976 1046976 + Variant 263180 RCV000253262 SCV000317036 249329 AGRN NM_198576.3:c.3388+19G>A NM_198576.3:c.3388+19G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1047342 A G 1047342 1047342 + Variant 128299 RCV000116261 SCV000150179;SCV000317037 133748 AGRN NM_198576.3:c.3404A>G NP_940978.2:p.Gln1135Arg NM_198576.3:c.3404A>G:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 -1 1047403 T C 1047403 1047403 + Variant 128300 RCV000116262 SCV000317038;SCV000150180 133749 AGRN NM_198576.3:c.3465T>C NP_940978.2:p.Ala1155= NM_198576.3:c.3465T>C:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 +1 1047342 A G 1047342 1047342 + Variant 128299 RCV000116261;RCV000543419 SCV000150179;SCV000317037;SCV000653911 133748 AGRN NM_198576.3:c.3404A>G NP_940978.2:p.Gln1135Arg NM_198576.3:c.3404A>G:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 11, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-11 2 0 +1 1047394 C T 1047394 1047394 + Variant 474118 RCV000560784 SCV000653912 446952 AGRN NM_198576.3:c.3456C>T NP_940978.2:p.Pro1152= NM_198576.3:c.3456C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 17, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-17 1 0 +1 1047403 T C 1047403 1047403 + Variant 128300 RCV000116262;RCV000536981 SCV000317038;SCV000150180;SCV000612299;SCV000653913 133749 AGRN NM_198576.3:c.3465T>C NP_940978.2:p.Ala1155= NM_198576.3:c.3465T>C:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jul 26, 2017 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;26467025;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-11-07;2017-07-26 2 0 1 1047464 G C 1047464 1047464 + Variant 128301 RCV000116263 SCV000519306;SCV000317039;SCV000150181;SCV000221341 133750 AGRN NM_198576.3:c.3516+10G>C NM_198576.3:c.3516+10G>C:intron variant Benign/Likely benign likely benign;likely benign;benign;benign 0 0 0 2 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Sep 28, 2016 GeneDx;PreventionGenetics;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-09-28;0000-00-00;2016-02-04 2 0 1 1047561 T C 1047561 1047561 + Variant 263181 RCV000246305 SCV000519173;SCV000317040 249331 AGRN NM_198576.3:c.3517-12T>C NM_198576.3:c.3517-12T>C:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-01-19 2 0 +1 1047599 C T 1047599 1047599 + Variant 474119 RCV000549332 SCV000653914 447038 AGRN NM_198576.3:c.3543C>T NP_940978.2:p.Asp1181= NM_198576.3:c.3543C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 13, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-13 1 0 1 1047614 T C 1047614 1047614 + Variant 128302 RCV000116264 SCV000150182;SCV000317041;SCV000519174 133751 AGRN NM_198576.3:c.3558T>C NP_940978.2:p.Phe1186= NM_198576.3:c.3558T>C:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 2 0 -1 1047626 C T 1047626 1047626 + Variant 128303 RCV000116265 SCV000150183;SCV000317042 133752 AGRN NM_198576.3:c.3570C>T NP_940978.2:p.Arg1190= NM_198576.3:c.3570C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 -1 1047841 C T 1047841 1047841 + Variant 390183 RCV000438400 SCV000532953 364341 AGRN NM_198576.3:c.3697C>T NP_940978.2:p.Arg1233Trp NM_198576.3:c.3697C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 27, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-27 1 0 -1 1047863 C T 1047863 1047863 + Variant 263182 RCV000247622 SCV000317043 249332 AGRN NM_198576.3:c.3719C>T NP_940978.2:p.Pro1240Leu NM_198576.3:c.3719C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 1047626 C T 1047626 1047626 + Variant 128303 RCV000116265;RCV000557303 SCV000150183;SCV000317042;SCV000653915 133752 AGRN NM_198576.3:c.3570C>T NP_940978.2:p.Arg1190= NM_198576.3:c.3570C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter May 30, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-05-30 2 0 +1 1047631 G A 1047631 1047631 + Variant 474121 RCV000549876 SCV000653917 447046 AGRN NM_198576.3:c.3575G>A NP_940978.2:p.Arg1192Gln NM_198576.3:c.3575G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 11, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-11 1 0 +1 1047814 C T 1047814 1047814 + Variant 474122 RCV000525731 SCV000653918 447042 AGRN NM_198576.3:c.3670C>T NP_940978.2:p.Leu1224Phe NM_198576.3:c.3670C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 05, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 1 0 +1 1047838 C A 1047838 1047838 + Variant 474123 RCV000538314 SCV000653919 447048 AGRN NM_198576.3:c.3694C>A NP_940978.2:p.Arg1232Ser NM_198576.3:c.3694C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 26, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-26 1 0 +1 1047841 C T 1047841 1047841 + Variant 390183 RCV000438400;RCV000551217 SCV000532953;SCV000653920 364341 AGRN NM_198576.3:c.3697C>T NP_940978.2:p.Arg1233Trp NM_198576.3:c.3697C>T:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 26, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-10-27;2017-05-26 2 0 +1 1047842 G A 1047842 1047842 + Variant 474124 RCV000527356 SCV000653921 447054 AGRN NM_198576.3:c.3698G>A NP_940978.2:p.Arg1233Gln NM_198576.3:c.3698G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 26, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-26 1 0 +1 1047863 C T 1047863 1047863 + Variant 263182 RCV000247622;RCV000539671 SCV000317043;SCV000653922 249332 AGRN NM_198576.3:c.3719C>T NP_940978.2:p.Pro1240Leu NM_198576.3:c.3719C>T:missense variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 11, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-05-11 2 0 1 1047876 C T 1047876 1047876 + Variant 210108 RCV000195120 SCV000317044;SCV000246338 206694 AGRN NM_198576.3:c.3732C>T NP_940978.2:p.His1244= NM_198576.3:c.3732C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Aug 06, 2014 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-08-06;0000-00-00 1 1 1 1048006 C T 1048006 1048006 + Variant 210109 RCV000192787 SCV000246339 206695 AGRN NM_198576.3:c.3752-6C>T NM_198576.3:c.3752-6C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 12, 2015 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-06-12 1 0 +1 1048033 C T 1048033 1048033 + Variant 474125 RCV000552295 SCV000653923 446955 AGRN NM_198576.3:c.3773C>T NP_940978.2:p.Thr1258Met NM_198576.3:c.3773C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 30, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-30 1 0 +1 1048043 G A 1048043 1048043 + Variant 474126 RCV000532144 SCV000653924 446956 AGRN NM_198576.3:c.3783G>A NP_940978.2:p.Thr1261= NM_198576.3:c.3783G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 16, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-16 1 0 1 1048079 C T 1048079 1048079 + Variant 390522 RCV000426153 SCV000533375 364331 AGRN NM_198576.3:c.3819C>T NP_940978.2:p.Ala1273= NM_198576.3:c.3819C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 10, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-10 1 0 1 1048116 C A 1048116 1048116 + Variant 434109 RCV000504469 SCV000593071 427607 AGRN NM_198576.3:c.3856C>A NP_940978.2:p.Pro1286Thr NM_198576.3:c.3856C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 02, 2017 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2017-02-02 1 0 -1 1048126 C T 1048126 1048126 + Variant 128304 RCV000116266 SCV000317045;SCV000150184 133753 AGRN NM_198576.3:c.3866C>T NP_940978.2:p.Pro1289Leu NM_198576.3:c.3866C>T:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 -1 1048224 C T 1048224 1048224 + Variant 128305 RCV000116267 SCV000317046;SCV000150185 133754 AGRN NM_198576.3:c.3964C>T NP_940978.2:p.Arg1322Trp NM_198576.3:c.3964C>T:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 -1 1048232 G A 1048232 1048232 + Variant 128306 RCV000116268 SCV000317047;SCV000150186 133755 AGRN NM_198576.3:c.3972G>A NP_940978.2:p.Pro1324= NM_198576.3:c.3972G>A:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 +1 1048119 C T 1048119 1048119 + Variant 474127 RCV000540137 SCV000653925 447050 AGRN NM_198576.3:c.3859C>T NP_940978.2:p.Arg1287Trp NM_198576.3:c.3859C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 17, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-17 1 0 +1 1048126 C T 1048126 1048126 + Variant 128304 RCV000116266;RCV000552486 SCV000317045;SCV000612300;SCV000150184;SCV000653926 133753 AGRN NM_198576.3:c.3866C>T NP_940978.2:p.Pro1289Leu NM_198576.3:c.3866C>T:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jul 26, 2017 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;26467025;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-11-07;2017-07-26 2 0 +1 1048127 G A 1048127 1048127 + Variant 474120 RCV000537189 SCV000653916 446973 AGRN NM_198576.3:c.3867G>A NP_940978.2:p.Pro1289= NM_198576.3:c.3867G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 17, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-17 1 0 +1 1048186 G A 1048186 1048186 + Variant 474128 RCV000533178 SCV000653927 447069 AGRN NM_198576.3:c.3926G>A NP_940978.2:p.Arg1309Gln NM_198576.3:c.3926G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 03, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-03 1 0 +1 1048224 C T 1048224 1048224 + Variant 128305 RCV000116267;RCV000546079 SCV000317046;SCV000150185;SCV000653928 133754 AGRN NM_198576.3:c.3964C>T NP_940978.2:p.Arg1322Trp NM_198576.3:c.3964C>T:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jun 22, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-06-22 2 0 +1 1048232 G A 1048232 1048232 + Variant 128306 RCV000116268;RCV000554114 SCV000317047;SCV000150186;SCV000653929 133755 AGRN NM_198576.3:c.3972G>A NP_940978.2:p.Pro1324= NM_198576.3:c.3972G>A:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jun 22, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-06-22 2 0 1 1048877 C T 1048877 1048877 + Variant 210110 RCV000193826 SCV000246340 206696 AGRN NM_198576.3:c.4116C>T NP_940978.2:p.Ala1372= NM_198576.3:c.4116C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 04, 2015 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-05-04 1 0 1 1048881 G T 1048881 1048881 + Variant 389927 RCV000438345 SCV000532615 364318 AGRN NM_198576.3:c.4120G>T NP_940978.2:p.Val1374Leu NM_198576.3:c.4120G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 13, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-13 1 0 -1 1048892 C T 1048892 1048892 + Variant 392687 RCV000445318 SCV000535996 364322 AGRN NM_198576.3:c.4131C>T NP_940978.2:p.Phe1377= NM_198576.3:c.4131C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 10, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-10 1 0 +1 1048892 C T 1048892 1048892 + Variant 392687 RCV000445318;RCV000529978 SCV000535996;SCV000653930 364322 AGRN NM_198576.3:c.4131C>T NP_940978.2:p.Phe1377= NM_198576.3:c.4131C>T:synonymous variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 27, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-01-10;2017-07-27 2 0 1 1048922 T C 1048922 1048922 + Variant 128307 RCV000116269 SCV000519276;SCV000150187;SCV000317048 133756 AGRN NM_198576.3:c.4161T>C NP_940978.2:p.Thr1387= NM_198576.3:c.4161T>C:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 2 0 -1 1049046 C T 1049046 1049046 + Variant 263183 RCV000248636 SCV000317049 249333 AGRN NM_198576.3:c.4285C>T NP_940978.2:p.Arg1429Cys NM_198576.3:c.4285C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 1048944 C T 1048944 1048944 + Variant 474129 RCV000547145 SCV000653931 447070 AGRN NM_198576.3:c.4183C>T NP_940978.2:p.Arg1395Cys NM_198576.3:c.4183C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 14, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-02-14 1 0 +1 1049033 G A 1049033 1049033 + Variant 474130 RCV000558841 SCV000653932 446962 AGRN NM_198576.3:c.4272G>A NP_940978.2:p.Ala1424= NM_198576.3:c.4272G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 11, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-11 1 0 +1 1049046 C T 1049046 1049046 + Variant 263183 RCV000248636;RCV000534784 SCV000317049;SCV000612301;SCV000653933 249333 AGRN NM_198576.3:c.4285C>T NP_940978.2:p.Arg1429Cys NM_198576.3:c.4285C>T:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 25, 2017 PreventionGenetics;Athena Diagnostics Inc;Invitae PreventionGenetics;Athena Diagnostics Inc;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;26467025;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-07-25;2017-04-26 2 0 +1 1049065 C T 1049065 1049065 + Variant 474131 RCV000542837 SCV000653934 447053 AGRN NM_198576.3:c.4298+6C>T NM_198576.3:c.4298+6C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 22, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 1 0 1 1049070 A T 1049070 1049070 + Variant 263184 RCV000251783 SCV000317050 249334 AGRN NM_198576.3:c.4298+11A>T NM_198576.3:c.4298+11A>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 1049076 C T 1049076 1049076 + Variant 387479 RCV000440496 SCV000529535 364323 AGRN NM_198576.3:c.4298+17C>T NM_198576.3:c.4298+17C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-26 1 0 -1 1049289 C T 1049289 1049289 + Variant 263185 RCV000243502 SCV000317051;SCV000593072 249335 AGRN NM_198576.3:c.4352C>T NP_940978.2:p.Pro1451Leu NM_198576.3:c.4352C>T:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Dec 23, 2016 PreventionGenetics;Genetic Services Laboratory, University of Chicago PreventionGenetics;Genetic Services Laboratory, University of Chicago not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-12-23 2 0 -1 1049389 C T 1049389 1049389 + Variant 128308 RCV000116270 SCV000317052;SCV000150188 133757 AGRN NM_198576.3:c.4452C>T NP_940978.2:p.Thr1484= NM_198576.3:c.4452C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 +1 1049257 G A 1049257 1049257 + Variant 474132 RCV000560225 SCV000653935 446965 AGRN NM_198576.3:c.4320G>A NP_940978.2:p.Pro1440= NM_198576.3:c.4320G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 12, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-12 1 0 +1 1049260 G A 1049260 1049260 + Variant 487335 RCV000576290 SCV000677101 446975 AGRN NM_198576.3:c.4323G>A NP_940978.2:p.Ala1441= NM_198576.3:c.4323G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 25, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-25 1 0 +1 1049289 C T 1049289 1049289 + Variant 263185 RCV000243502;RCV000533961 SCV000317051;SCV000593072;SCV000653936 249335 AGRN NM_198576.3:c.4352C>T NP_940978.2:p.Pro1451Leu NM_198576.3:c.4352C>T:missense variant Likely benign likely benign 0 0 0 3 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 28, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-12-23;2017-07-28 2 0 +1 1049316 C A 1049316 1049316 + Variant 474133 RCV000546585 SCV000653937 447074 AGRN NM_198576.3:c.4379C>A NP_940978.2:p.Ser1460Tyr NM_198576.3:c.4379C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 22, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 1 0 +1 1049389 C T 1049389 1049389 + Variant 128308 RCV000116270;RCV000558276 SCV000317052;SCV000150188;SCV000653938 133757 AGRN NM_198576.3:c.4452C>T NP_940978.2:p.Thr1484= NM_198576.3:c.4452C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Nov 23, 2016 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-11-23 2 0 +1 1049407 C T 1049407 1049407 + Variant 474134 RCV000534207 SCV000653939 447077 AGRN NM_198576.3:c.4470C>T NP_940978.2:p.Asp1490= NM_198576.3:c.4470C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 08, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-08 1 0 1 1049467 G C 1049467 1049467 + Variant 263186 RCV000253016 SCV000317053;SCV000526742 249336 AGRN NM_198576.3:c.4514+16G>C NM_198576.3:c.4514+16G>C:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 20, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-09-20 2 0 1 1049569 G A 1049569 1049569 + Variant 263187 RCV000244907 SCV000317054 249337 AGRN NM_198576.3:c.4518G>A NP_940978.2:p.Ala1506= NM_198576.3:c.4518G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1049591 G A 1049591 1049591 + Variant 128309 RCV000116271 SCV000150189;SCV000317055 133758 AGRN NM_198576.3:c.4540G>A NP_940978.2:p.Ala1514Thr NM_198576.3:c.4540G>A:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jul 05, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 2 0 -1 1049690 G A 1049690 1049690 + Variant 252808 RCV000238604 SCV000297407;SCV000593075;SCV000564550 246856 AGRN NM_198576.3:c.4639G>A NP_940978.2:p.Glu1547Lys NM_198576.3:c.4639G>A:missense variant Uncertain significance uncertain significance;uncertain significance;uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jan 23, 2017 Genetic Services Laboratory, University of Chicago;GeneDx;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;GeneDx;Genetic Services Laboratory, University of Chicago not specified;not specified;not specified;not specified 25741868 germline;unknown MedGen:CN169374 2015-09-18;2017-01-23;2015-09-21 2 0 -1 1049746 G C 1049746 1049746 + Variant 387480 RCV000419307 SCV000529536 364295 AGRN NM_198576.3:c.4695G>C NP_940978.2:p.Gln1565His NM_198576.3:c.4695G>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 15, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-15 1 0 +1 1049591 G A 1049591 1049591 + Variant 128309 RCV000116271;RCV000514020;RCV000551508 SCV000150189;SCV000317055;SCV000610743;SCV000653940 133758 AGRN NM_198576.3:c.4540G>A NP_940978.2:p.Ala1514Thr NM_198576.3:c.4540G>A:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jul 25, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;not provided;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;MedGen:CN517202;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-07-05;2017-07-25 2 0 +1 1049663 G T 1049663 1049663 + Variant 474135 RCV000527524 SCV000653941 447078 AGRN NM_198576.3:c.4612G>T NP_940978.2:p.Ala1538Ser NM_198576.3:c.4612G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 18, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-18 1 0 +1 1049673 G A 1049673 1049673 + Variant 474136 RCV000535699 SCV000653942 446978 AGRN NM_198576.3:c.4622G>A NP_940978.2:p.Arg1541Gln NM_198576.3:c.4622G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 27, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-27 1 0 +1 1049690 G A 1049690 1049690 + Variant 252808 RCV000238604;RCV000548184 SCV000297407;SCV000593075;SCV000564550;SCV000653943 246856 AGRN NM_198576.3:c.4639G>A NP_940978.2:p.Glu1547Lys NM_198576.3:c.4639G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 3 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Sep 25, 2017 Genetic Services Laboratory, University of Chicago;GeneDx;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;Invitae Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;GeneDx;Genetic Services Laboratory, University of Chicago;Invitae not specified;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline;unknown MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2015-09-18;2017-09-25;2015-09-21;2017-06-29 1 1 +1 1049702 C T 1049702 1049702 + Variant 474137 RCV000529000 SCV000653944 446997 AGRN NM_198576.3:c.4651C>T NP_940978.2:p.His1551Tyr NM_198576.3:c.4651C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 05, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-12-05 1 0 +1 1049746 G C 1049746 1049746 + Variant 387480 RCV000419307;RCV000541465 SCV000529536;SCV000653945 364295 AGRN NM_198576.3:c.4695G>C NP_940978.2:p.Gln1565His NM_198576.3:c.4695G>C:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 05, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-07-15;2017-06-05 2 0 1 1049782 G A 1049782 1049782 + Variant 434110 RCV000502846 SCV000593073 427608 AGRN NM_198576.3:c.4731G>A NP_940978.2:p.Pro1577= NM_198576.3:c.4731G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 01, 2016 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-08-01 1 0 -1 1049791 C T 1049791 1049791 + Variant 128311 RCV000116273 SCV000150191;SCV000317057 133760 AGRN NM_198576.3:c.4740C>T NP_940978.2:p.Arg1580= NM_198576.3:c.4740C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 +1 1049791 C T 1049791 1049791 + Variant 128311 RCV000116273;RCV000553091 SCV000150191;SCV000612302;SCV000317057;SCV000653946 133760 AGRN NM_198576.3:c.4740C>T NP_940978.2:p.Arg1580= NM_198576.3:c.4740C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 02, 2017 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;26467025;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-07-24;2017-08-02 2 0 1 1049886 C T 1049886 1049886 + Variant 263188 RCV000250964 SCV000519277;SCV000317058 249338 AGRN NM_198576.3:c.4745-17C>T NM_198576.3:c.4745-17C>T:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-01-19 2 0 1 1049927 GCCCCTGCCAGCCCAA G 1049937 1049951 + Variant 291137 RCV000296346 SCV000345838 275374 AGRN NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA NP_940978.2:p.Gln1593_Cys1597del NM_198576.3:c.4779_4793delGCCCAACCCCTGCCA:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 06, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-06 1 0 -1 1049997 C T 1049997 1049997 + Variant 263189 RCV000254107 SCV000317059 249339 AGRN NM_198576.3:c.4839C>T NP_940978.2:p.Cys1613= NM_198576.3:c.4839C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1050027 C A 1050027 1050027 + Variant 282708 RCV000405008 SCV000334296 266945 AGRN NM_198576.3:c.4869C>A NP_940978.2:p.Phe1623Leu NM_198576.3:c.4869C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 14, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-08-14 1 0 +1 1049979 C T 1049979 1049979 + Variant 474138 RCV000524551 SCV000653947 447081 AGRN NM_198576.3:c.4821C>T NP_940978.2:p.Pro1607= NM_198576.3:c.4821C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Nov 30, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-30 1 0 +1 1049997 C T 1049997 1049997 + Variant 263189 RCV000254107;RCV000541799 SCV000317059;SCV000653948 249339 AGRN NM_198576.3:c.4839C>T NP_940978.2:p.Cys1613= NM_198576.3:c.4839C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 13, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-06-13 2 0 +1 1049998 G A 1049998 1049998 + Variant 474139 RCV000554546 SCV000653949 446967 AGRN NM_198576.3:c.4840G>A NP_940978.2:p.Glu1614Lys NM_198576.3:c.4840G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 16, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-16 1 0 +1 1050027 C A 1050027 1050027 + Variant 282708 RCV000405008;RCV000530565 SCV000334296;SCV000653950 266945 AGRN NM_198576.3:c.4869C>A NP_940978.2:p.Phe1623Leu NM_198576.3:c.4869C>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 02, 2017 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae not specified;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2015-08-14;2017-08-02 2 0 1 1050054 T A 1050054 1050054 + Variant 263190 RCV000245933 SCV000317060 249340 AGRN NM_198576.3:c.4879+17T>A NM_198576.3:c.4879+17T>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 1050066 G T 1050066 1050066 + Variant 263191 RCV000250684 SCV000317061 249341 AGRN NM_198576.3:c.4879+29G>T NM_198576.3:c.4879+29G>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 1050069 G A 1050069 1050069 + Variant 263192 RCV000242423 SCV000317062 249342 AGRN NM_198576.3:c.4879+32G>A NM_198576.3:c.4879+32G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1050417 A G 1050417 1050417 + Variant 263193 RCV000247197 SCV000519188;SCV000317063 249343 AGRN NM_198576.3:c.4977-10A>G NM_198576.3:c.4977-10A>G:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Jun 21, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-06-21 2 0 -1 1050446 G A 1050446 1050446 + Variant 128312 RCV000116274 SCV000150192;SCV000317064;SCV000519308 133761 AGRN NM_198576.3:c.4996G>A NP_940978.2:p.Val1666Ile NM_198576.3:c.4996G>A:missense variant Benign/Likely benign likely benign;benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter Jul 15, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-07-15 2 0 +1 1050246 C T 1050246 1050246 + Variant 474140 RCV000538720 SCV000653951 447087 AGRN NM_198576.3:c.4893C>T NP_940978.2:p.Asp1631= NM_198576.3:c.4893C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 17, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-17 1 0 +1 1050320 G A 1050320 1050320 + Variant 451650 RCV000520546 SCV000620373 442574 AGRN NM_198576.3:c.4967G>A NP_940978.2:p.Arg1656Gln NM_198576.3:c.4967G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 24, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-24 1 0 +1 1050417 A G 1050417 1050417 + Variant 263193 RCV000247197;RCV000530930 SCV000519188;SCV000317063;SCV000653953 249343 AGRN NM_198576.3:c.4977-10A>G NM_198576.3:c.4977-10A>G:intron variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 28, 2017 PreventionGenetics;GeneDx;Invitae PreventionGenetics;GeneDx;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-06-21;2017-07-28 2 0 +1 1050446 G A 1050446 1050446 + Variant 128312 RCV000116274;RCV000543394 SCV000150192;SCV000317064;SCV000519308;SCV000653954 133761 AGRN NM_198576.3:c.4996G>A NP_940978.2:p.Val1666Ile NM_198576.3:c.4996G>A:missense variant Benign/Likely benign likely benign;benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 09, 2017 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-07-15;2017-08-09 2 0 1 1050473 G A 1050473 1050473 + Variant 243039 RCV000235025 SCV000292409 244113 AGRN NM_198576.3:c.5023G>A NP_940978.2:p.Gly1675Ser NM_198576.3:c.5023G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 0 0 -1 1050475 C T 1050475 1050475 + Variant 263194 RCV000242085 SCV000532854;SCV000317065 249344 AGRN NM_198576.3:c.5025C>T NP_940978.2:p.Gly1675= NM_198576.3:c.5025C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Nov 11, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-11-11 2 0 -1 1050520 C T 1050520 1050520 + Variant 128313 RCV000116275 SCV000317066;SCV000150193;SCV000531981 133762 AGRN NM_198576.3:c.5070C>T NP_940978.2:p.Phe1690= NM_198576.3:c.5070C>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Oct 26, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-10-26 2 0 +1 1050475 C T 1050475 1050475 + Variant 263194 RCV000242085;RCV000560640 SCV000532854;SCV000317065;SCV000653955 249344 AGRN NM_198576.3:c.5025C>T NP_940978.2:p.Gly1675= NM_198576.3:c.5025C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 14, 2017 PreventionGenetics;GeneDx;Invitae PreventionGenetics;GeneDx;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-11-11;2017-07-14 2 0 +1 1050490 C T 1050490 1050490 + Variant 474142 RCV000532119 SCV000653956 447099 AGRN NM_198576.3:c.5040C>T NP_940978.2:p.Asn1680= NM_198576.3:c.5040C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 18, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-18 1 0 +1 1050520 C T 1050520 1050520 + Variant 128313 RCV000116275;RCV000544877 SCV000317066;SCV000150193;SCV000531981;SCV000653957 133762 AGRN NM_198576.3:c.5070C>T NP_940978.2:p.Phe1690= NM_198576.3:c.5070C>T:synonymous variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 26, 2017 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 18414213;25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2013-08-15;0000-00-00;2016-10-26;2017-07-26 2 0 +1 1050543 G A 1050543 1050543 + Variant 474143 RCV000557276 SCV000653958 447011 AGRN NM_198576.3:c.5093G>A NP_940978.2:p.Arg1698His NM_198576.3:c.5093G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 12, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-12 1 0 1 1050575 G C 1050575 1050575 + Variant 18241 RCV000019902;RCV000235029 SCV000040200;SCV000292410 33280 AGRN NM_198576.3:c.5125G>C NP_940978.2:p.Gly1709Arg NM_198576.3:c.5125G>C:missense variant Pathogenic pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 OMIM;GeneReviews OMIM;GeneReviews Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8;Congenital myasthenic syndrome 19631309;20301347 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590;MedGen:C0751882;OMIM:PS601462 2009-08-01;2016-07-14 0 0 1 1050763 G T 1050763 1050763 + Variant 126555 RCV000114427;RCV000235038 SCV000148369;SCV000292411 132068 AGRN NM_198576.3:c.5179G>T NP_940978.2:p.Val1727Phe NM_198576.3:c.5179G>T:missense variant Pathogenic pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 OMIM;GeneReviews OMIM;GeneReviews Myasthenic syndrome, congenital, 8;MYASTHENIC SYNDROME, CONGENITAL, 8;Congenital myasthenic syndrome 20301347;22205389 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590;MedGen:C0751882;OMIM:PS601462 2012-07-01;2016-07-14 0 0 -1 1050785 G A 1050785 1050785 + Variant 263195 RCV000251658 SCV000317067;SCV000532616 249345 AGRN NM_198576.3:c.5201G>A NP_940978.2:p.Arg1734His NM_198576.3:c.5201G>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Oct 13, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-10-13 2 0 +1 1050785 G A 1050785 1050785 + Variant 263195 RCV000251658;RCV000538163 SCV000317067;SCV000532616;SCV000653959 249345 AGRN NM_198576.3:c.5201G>A NP_940978.2:p.Arg1734His NM_198576.3:c.5201G>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 10, 2017 PreventionGenetics;GeneDx;Invitae PreventionGenetics;GeneDx;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-10;2017-08-04 2 0 +1 1050807 C T 1050807 1050807 + Variant 474144 RCV000550632 SCV000653960 447103 AGRN NM_198576.3:c.5223C>T NP_940978.2:p.Gly1741= NM_198576.3:c.5223C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Aug 11, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-08-11 1 0 +1 1050810 C T 1050810 1050810 + Variant 474145 RCV000557635 SCV000653961 447012 AGRN NM_198576.3:c.5226C>T NP_940978.2:p.Asp1742= NM_198576.3:c.5226C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 21, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-02-21 1 0 +1 1051248 C T 1051248 1051248 + Variant 474146 RCV000533690 SCV000653962 447109 AGRN NM_198576.3:c.5254-5C>T NM_198576.3:c.5254-5C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 23, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-23 1 0 +1 1051257 C T 1051257 1051257 + Variant 474147 RCV000550981 SCV000653963 447020 AGRN NM_198576.3:c.5258C>T NP_940978.2:p.Pro1753Leu NM_198576.3:c.5258C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 24, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-24 1 0 +1 1051307 G A 1051307 1051307 + Variant 474148 RCV000526934 SCV000653964 447056 AGRN NM_198576.3:c.5308G>A NP_940978.2:p.Asp1770Asn NM_198576.3:c.5308G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 25, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-01-25 1 0 +1 1051326 G A 1051326 1051326 + Variant 474149 RCV000539692 SCV000653965 447059 AGRN NM_198576.3:c.5327G>A NP_940978.2:p.Arg1776His NM_198576.3:c.5327G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 15, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-15 1 0 +1 1051331 G A 1051331 1051331 + Variant 474150 RCV000547602 SCV000653966 447111 AGRN NM_198576.3:c.5332G>A NP_940978.2:p.Ala1778Thr NM_198576.3:c.5332G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 14, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-14 1 0 1 1051336 C T 1051336 1051336 + Variant 263196 RCV000246601 SCV000317069 249346 AGRN NM_198576.3:c.5337C>T NP_940978.2:p.Ala1779= NM_198576.3:c.5337C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1051351 C T 1051351 1051351 + Variant 263197 RCV000252836 SCV000317070 249347 AGRN NM_198576.3:c.5352C>T NP_940978.2:p.Phe1784= NM_198576.3:c.5352C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1051352 G A 1051352 1051352 + Variant 128314 RCV000116276;RCV000244639 SCV000150194;SCV000528652;SCV000317071 133763 AGRN NM_198576.3:c.5353G>A NP_940978.2:p.Asp1785Asn NM_198576.3:c.5353G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;benign;likely benign 0 0 1 1 1 criteria provided, conflicting interpretations criteria provided, single submitter Jan 10, 2017 Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not provided;not specified;NOT SPECIFIED 18414213;25741868 germline MedGen:CN221809;MedGen:CN169374 2013-08-23;0000-00-00;2017-01-10 1 1 +1 1051351 C T 1051351 1051351 + Variant 263197 RCV000252836;RCV000528442 SCV000317070;SCV000653967 249347 AGRN NM_198576.3:c.5352C>T NP_940978.2:p.Phe1784= NM_198576.3:c.5352C>T:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 30, 2017 PreventionGenetics;Invitae PreventionGenetics;Invitae not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-05-30 2 0 +1 1051352 G A 1051352 1051352 + Variant 128314 RCV000116276;RCV000244639;RCV000540887 SCV000150194;SCV000528652;SCV000317071;SCV000653968 133763 AGRN NM_198576.3:c.5353G>A NP_940978.2:p.Asp1785Asn NM_198576.3:c.5353G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;benign;likely benign 0 0 1 1 2 criteria provided, conflicting interpretations criteria provided, single submitter Jul 21, 2017 Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx;Invitae not provided;not specified;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 18414213;25741868;20301347;28492532 germline MedGen:CN517202;MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2013-08-23;0000-00-00;2017-01-10;2017-07-21 1 1 1 1051357 T C 1051357 1051357 + Variant 128315 RCV000116277 SCV000150195;SCV000317072;SCV000526743 133764 AGRN NM_198576.3:c.5358T>C NP_940978.2:p.Gly1786= NM_198576.3:c.5358T>C:synonymous variant Benign/Likely benign likely benign;benign;benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter Sep 20, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00;2016-09-20 2 0 1 1051380 G A 1051380 1051380 + Variant 263198 RCV000254171 SCV000532617;SCV000317073 249348 AGRN NM_198576.3:c.5370+11G>A NM_198576.3:c.5370+11G>A:intron variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Oct 13, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-10-13 2 0 1 1051469 G A 1051469 1051469 + Variant 424015 RCV000485746 SCV000573787 404872 AGRN NM_198576.3:c.5387G>A NP_940978.2:p.Arg1796His NM_198576.3:c.5387G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 07, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-07 1 0 +1 1051504 G A 1051504 1051504 + Variant 474151 RCV000552514 SCV000653969 447021 AGRN NM_198576.3:c.5422G>A NP_940978.2:p.Val1808Met NM_198576.3:c.5422G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 26, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-26 1 0 +1 1051598 A G 1051598 1051598 + Variant 474152 RCV000533071 SCV000653970 447061 AGRN NM_198576.3:c.5516A>G NP_940978.2:p.Tyr1839Cys NM_198576.3:c.5516A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 25, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-25 1 0 +1 1051632 G A 1051632 1051632 + Variant 474153 RCV000541245 SCV000653971 447024 AGRN NM_198576.3:c.5550G>A NP_940978.2:p.Pro1850= NM_198576.3:c.5550G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Apr 25, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-04-25 1 0 +1 1051639 G A 1051639 1051639 + Variant 474154 RCV000553749 SCV000653972 447063 AGRN NM_198576.3:c.5557G>A NP_940978.2:p.Glu1853Lys NM_198576.3:c.5557G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 29, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-29 1 0 1 1051736 G A 1051736 1051736 + Variant 397549 RCV000449559 SCV000537756 384432 AGRN NM_198576.3:c.5572G>A NP_940978.2:p.Glu1858Lys NM_198576.3:c.5572G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 17, 2016 Genome Clinic of Geneva,University Hospital of Geneva Genome Clinic of Geneva,University Hospital of Geneva Myasthenic syndrome, congenital, 8 20301347;25741868 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-03-17 1 0 -1 1051762 C T 1051762 1051762 + Variant 128316 RCV000116278 SCV000317074;SCV000150196 133765 AGRN NM_198576.3:c.5598C>T NP_940978.2:p.Thr1866= NM_198576.3:c.5598C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 +1 1051762 C T 1051762 1051762 + Variant 128316 RCV000116278;RCV000530029 SCV000317074;SCV000612303;SCV000150196;SCV000653973 133765 AGRN NM_198576.3:c.5598C>T NP_940978.2:p.Thr1866= NM_198576.3:c.5598C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jul 26, 2017 PreventionGenetics;Athena Diagnostics Inc;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Athena Diagnostics Inc;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;26467025;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2016-11-07;2017-07-26 2 0 1 1051775 G A 1051775 1051775 + Variant 243040 RCV000235024 SCV000292412 244114 AGRN NM_198576.3:c.5611G>A NP_940978.2:p.Gly1871Arg NM_198576.3:c.5611G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 14, 2016 GeneReviews GeneReviews Congenital myasthenic syndrome 20301347 germline GeneReviews:NBK1168;MedGen:C0751882;OMIM:PS601462 2016-07-14 0 0 1 1051779 G A 1051779 1051779 + Variant 388957 RCV000427038 SCV000531360 364297 AGRN NM_198576.3:c.5615G>A NP_940978.2:p.Arg1872Gln NM_198576.3:c.5615G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 07, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-07 1 0 1 1051807 G A 1051807 1051807 + Variant 390523 RCV000433372 SCV000533376 364332 AGRN NM_198576.3:c.5643G>A NP_940978.2:p.Val1881= NM_198576.3:c.5643G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 10, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-10 1 0 1 1051811 G A 1051811 1051811 + Variant 263199 RCV000249073 SCV000317075 249349 AGRN NM_198576.3:c.5647G>A NP_940978.2:p.Glu1883Lys NM_198576.3:c.5647G>A:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 1051820 C T 1051820 1051820 + Variant 128317 RCV000116279 SCV000317076;SCV000519175;SCV000150197 133766 AGRN NM_198576.3:c.5651+5C>T NM_198576.3:c.5651+5C>T:intron variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 2 0 -1 1053827 G C 1053827 1053827 + Variant 128318 RCV000116280 SCV000150198;SCV000317077 133767 AGRN NM_198576.3:c.5726G>C NP_940978.2:p.Ser1909Thr NM_198576.3:c.5726G>C:missense variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter - PreventionGenetics;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics not specified;AllHighlyPenetrant;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00;0000-00-00 1 0 +1 1053768 G A 1053768 1053768 + Variant 474155 RCV000547044 SCV000653974 446974 AGRN NM_198576.3:c.5667G>A NP_940978.2:p.Gln1889= NM_198576.3:c.5667G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 22, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-22 1 0 +1 1053826 A C 1053826 1053826 + Variant 474156 RCV000559740 SCV000653975 447113 AGRN NM_198576.3:c.5725A>C NP_940978.2:p.Ser1909Arg NM_198576.3:c.5725A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 01, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-01 1 0 +1 1053827 G C 1053827 1053827 + Variant 128318 RCV000116280;RCV000531259 SCV000150198;SCV000317077;SCV000653976 133767 AGRN NM_198576.3:c.5726G>C NP_940978.2:p.Ser1909Thr NM_198576.3:c.5726G>C:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Aug 07, 2017 PreventionGenetics;Genetic Services Laboratory, University of Chicago;Invitae Genetic Services Laboratory, University of Chicago;PreventionGenetics;Invitae not specified;AllHighlyPenetrant;NOT SPECIFIED;Myasthenic syndrome, congenital, 8 25741868;20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 0000-00-00;2017-08-07 2 0 +1 1053836 C T 1053836 1053836 + Variant 474157 RCV000542856 SCV000653977 447066 AGRN NM_198576.3:c.5735C>T NP_940978.2:p.Ala1912Val NM_198576.3:c.5735C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 27, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-27 1 0 +1 1053839 C T 1053839 1053839 + Variant 474158 RCV000559811 SCV000653978 447075 AGRN NM_198576.3:c.5738C>T NP_940978.2:p.Thr1913Met NM_198576.3:c.5738C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 05, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 1 0 1 1053844 C T 1053844 1053844 + Variant 422180 RCV000485272 SCV000571586 404873 AGRN NM_198576.3:c.5743C>T NP_940978.2:p.Arg1915Trp NM_198576.3:c.5743C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 21, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-21 1 0 +1 1053915 C T 1053915 1053915 + Variant 474160 RCV000548862 SCV000653980 447076 AGRN NM_198576.3:c.5814C>T NP_940978.2:p.Pro1938= NM_198576.3:c.5814C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Nov 14, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-14 1 0 1 1053933 C T 1053933 1053933 + Variant 434111 RCV000499981 SCV000593074 427609 AGRN NM_198576.3:c.5832C>T NP_940978.2:p.Thr1944= NM_198576.3:c.5832C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 11, 2016 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-04-11 1 0 1 1054431 C A 1054431 1054431 + Variant 263200 RCV000250424 SCV000317078 249351 AGRN NM_198576.3:c.5877-17C>A NM_198576.3:c.5877-17C>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 1054833 C T 1054833 1054833 + Variant 430302 RCV000492841 SCV000583076 421152 AGRN NM_198576.3:c.5990C>T NP_940978.2:p.Pro1997Leu NM_198576.3:c.5990C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 22, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-22 1 0 +1 1054467 C T 1054467 1054467 + Variant 474161 RCV000556702 SCV000653981 447027 AGRN NM_198576.3:c.5896C>T NP_940978.2:p.Leu1966= NM_198576.3:c.5896C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 14, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-14 1 0 +1 1054519 C T 1054519 1054519 + Variant 474162 RCV000537577 SCV000653982 447080 AGRN NM_198576.3:c.5948C>T NP_940978.2:p.Thr1983Met NM_198576.3:c.5948C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 01, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-07-01 1 0 +1 1054833 C T 1054833 1054833 + Variant 430302 RCV000492841;RCV000525192 SCV000583076;SCV000653984 421152 AGRN NM_198576.3:c.5990C>T NP_940978.2:p.Pro1997Leu NM_198576.3:c.5990C>T:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 22, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Myasthenic syndrome, congenital, 8 20301347;28492532 germline MedGen:CN169374;GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-22;2017-03-02 2 0 +1 1054838 C A 1054838 1054838 + Variant 474164 RCV000542184 SCV000653985 447030 AGRN NM_198576.3:c.5995C>A NP_940978.2:p.Leu1999Met NM_198576.3:c.5995C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 24, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-03-24 1 0 +1 1054844 G A 1054844 1054844 + Variant 474166 RCV000526397 SCV000653987 447082 AGRN NM_198576.3:c.6001G>A NP_940978.2:p.Val2001Met NM_198576.3:c.6001G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 29, 2016 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2016-11-29 1 0 1 1054862 A G 1054862 1054862 + Variant 385926 RCV000425631 SCV000527367 364344 AGRN NM_198576.3:c.6019A>G NP_940978.2:p.Lys2007Glu NM_198576.3:c.6019A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 02, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-02 1 0 1 1054897 G A 1054897 1054897 + Variant 263201 RCV000253570 SCV000317079 249352 AGRN NM_198576.3:c.6054G>A NP_940978.2:p.Arg2018= NM_198576.3:c.6054G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 1 1054900 C T 1054900 1054900 + Variant 128319 RCV000116281 SCV000150199;SCV000519176;SCV000317080 133768 AGRN NM_198576.3:c.6057C>T NP_940978.2:p.Asp2019= NM_198576.3:c.6057C>T:synonymous variant Benign benign;benign;benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jan 19, 2016 PreventionGenetics;GeneDx;Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago;PreventionGenetics;GeneDx not specified;AllHighlyPenetrant;NOT SPECIFIED;not specified 18414213;25741868 germline MedGen:CN169374 2013-08-15;0000-00-00;2016-01-19 2 0 +1 1054911 G T 1054911 1054911 + Variant 474167 RCV000539106 SCV000653988 447085 AGRN NM_198576.3:c.6068G>T NP_940978.2:p.Gly2023Val NM_198576.3:c.6068G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 05, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-06-05 1 0 +1 1054962 G A 1054962 1054962 + Variant 474168 RCV000556109 SCV000653989 446976 AGRN NM_198576.3:c.6119G>A NP_940978.2:p.Arg2040Gln NM_198576.3:c.6119G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 24, 2017 Invitae Invitae Myasthenic syndrome, congenital, 8 20301347;28492532 germline GeneReviews:NBK1168;MedGen:C3808739;OMIM:615120;Orphanet:590 2017-05-24 1 0 1 1055000 C T 1055000 1055000 + Variant 263157 RCV000252490 SCV000317004;SCV000519189 249353 AGRN NM_198576.3:c.*19C>T NM_198576.3:c.*19C>T:3 prime UTR variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Feb 01, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-02-01 2 0 +1 1211585 G A 1211585 1211585 - Variant 474798 RCV000537491 SCV000654816 447197 TNFRSF4 NM_003327.3:c.804C>T NP_003318.1:p.Ala268= NM_003327.3:c.804C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 29, 2017 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-06-29 1 0 +1 1211957 C T 1211957 1211957 - Variant 474797 RCV000556703 SCV000654815 447083 TNFRSF4 NM_003327.3:c.619G>A NP_003318.1:p.Val207Met NM_003327.3:c.619G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 25, 2017 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-07-25 1 0 1 1212042 C T 1212042 1212042 - Variant 403556 RCV000455786 SCV000540562 389315 TNFRSF4 NM_003327.3:c.534G>A NP_003318.1:p.Glu178= NM_003327.3:c.534G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Mar 28, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified 24033266 germline MedGen:CN169374 2016-03-28 1 0 +1 1213065 G A 1213065 1213065 - Variant 474796 RCV000544166 SCV000654814 447259 TNFRSF4 NM_003327.3:c.297C>T NP_003318.1:p.Cys99= NM_003327.3:c.297C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 10, 2017 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-07-10 1 0 +1 1213069 A G 1213069 1213069 - Variant 474795 RCV000531541 SCV000654813 447260 TNFRSF4 NM_003327.3:c.293T>C NP_003318.1:p.Leu98Pro NM_003327.3:c.293T>C:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 21, 2017 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-06-21 1 0 1 1213738 G A 1213738 1213738 - Variant 96692 RCV000082860 SCV000114912 102585 TNFRSF4 NM_003327.3:c.193C>T NP_003318.1:p.Arg65Cys NM_003327.3:c.193C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 26, 2013 OMIM OMIM Immunodeficiency 16;IMMUNODEFICIENCY 16 (1 patient) 23897980 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2013-08-26 0 0 +1 1214100 G A 1214100 1214100 - Variant 474794 RCV000559880 SCV000654812 447262 TNFRSF4 NM_003327.3:c.28C>T NP_003318.1:p.Arg10Cys NM_003327.3:c.28C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 25, 2017 Invitae Invitae Immunodeficiency 16 28492532 germline MedGen:C3810053;OMIM:615593;Orphanet:431149 2017-07-25 1 0 1 1232256 G A 1232256 1232256 + Variant 390144 RCV000433352 SCV000532898 364446 B3GALT6 NM_080605.3:c.-23G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 20, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-20 1 0 1 1232279 A G 1232279 1232279 + Variant 60484 RCV000054390 SCV000082867 75079 B3GALT6 NM_080605.3:c.1A>G NP_542172.2:p.Met1Val NM_080605.3:c.1A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 0 0 -1 1232294 C T 1232294 1232294 + Variant 60493 RCV000054399 SCV000082876 75088 B3GALT6 NM_080605.3:c.16C>T NP_542172.2:p.Arg6Trp NM_080605.3:c.16C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 0 0 +1 1232294 C T 1232294 1232294 + Variant 60493 RCV000054399 SCV000082876 75088 B3GALT6 NM_080605.3:c.16C>T NP_542172.2:p.Arg6Trp NM_080605.3:c.16C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 0 0 1 1232295 G A 1232295 1232295 + Variant 429685 RCV000493202 SCV000582314 421163 B3GALT6 NM_080605.3:c.17G>A NP_542172.2:p.Arg6Gln NM_080605.3:c.17G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 08, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-08 1 0 1 1232300 T G 1232300 1232300 + Variant 193479 RCV000173551 SCV000224673 190643 B3GALT6 NM_080605.3:c.22T>G NP_542172.2:p.Trp8Gly NM_080605.3:c.22T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 05, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-02-05 1 0 1 1232309 C T 1232309 1232309 + Variant 386485 RCV000444888 SCV000528170 364354 B3GALT6 NM_080605.3:c.31C>T NP_542172.2:p.Arg11Trp NM_080605.3:c.31C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 17, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-17 1 0 +1 1232313 C G 1232313 1232313 + Variant 450501 RCV000520086 SCV000619096 442611 B3GALT6 NM_080605.3:c.35C>G NP_542172.2:p.Ala12Gly NM_080605.3:c.35C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 07, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-07-07 1 0 1 1232324 C T 1232324 1232324 + Variant 391547 RCV000441345 SCV000534639 364403 B3GALT6 NM_080605.3:c.46C>T NP_542172.2:p.Leu16= NM_080605.3:c.46C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 09, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-09 1 0 -1 1232385 C T 1232385 1232385 + Variant 392324 RCV000431606 SCV000535577 364451 B3GALT6 NM_080605.3:c.107C>T NP_542172.2:p.Pro36Leu NM_080605.3:c.107C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 04, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-04 1 0 +1 1232385 C T 1232385 1232385 + Variant 392324 RCV000431606 SCV000535577 364451 B3GALT6 NM_080605.3:c.107C>T NP_542172.2:p.Pro36Leu NM_080605.3:c.107C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 27, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-07-27 1 0 1 1232416 C T 1232416 1232416 + Variant 193478 RCV000173550 SCV000224672;SCV000525607 190642 B3GALT6 NM_080605.3:c.138C>T NP_542172.2:p.Ser46= NM_080605.3:c.138C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 29, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2015-02-10;2016-09-29 2 0 1 1232458 A G 1232458 1232458 + Variant 288791 RCV000380808 SCV000343009 273028 B3GALT6 NM_080605.3:c.180A>G NP_542172.2:p.Ala60= NM_080605.3:c.180A>G:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 21, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-06-21 1 0 1 1232471 A G 1232471 1232471 + Variant 60488 RCV000054394 SCV000082871 75083 B3GALT6 NM_080605.3:c.193A>G NP_542172.2:p.Ser65Gly NM_080605.3:c.193A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 0 0 1 1232478 C T 1232478 1232478 + Variant 60489 RCV000054395 SCV000082872 75084 B3GALT6 NM_080605.3:c.200C>T NP_542172.2:p.Pro67Leu NM_080605.3:c.200C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 0 0 -1 1232616 A G 1232616 1232616 + Variant 424885 RCV000488044 SCV000574737 413219 B3GALT6 NM_080605.3:c.338A>G NP_542172.2:p.Gln113Arg NM_080605.3:c.338A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 31, 2017 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-03-31 1 0 -1 1232630 GA G 1232631 1232631 + Variant 60490 RCV000054396 SCV000082873 75085 B3GALT6 NM_080605.3:c.353delA NP_542172.2:p.Asp118Alafs NM_080605.3:c.353delA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 0 0 +1 1232517 G A 1232517 1232517 + Variant 452846 RCV000520848 SCV000621690 442612 B3GALT6 NM_080605.3:c.239G>A NP_542172.2:p.Trp80Ter NM_080605.3:c.239G>A:nonsense Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Oct 16, 2017 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2017-10-16 1 0 +1 1232616 A G 1232616 1232616 + Variant 424885 RCV000488044 SCV000574737 413219 B3GALT6 NM_080605.3:c.338A>G NP_542172.2:p.Gln113Arg NM_080605.3:c.338A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 31, 2017 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-03-31 1 0 +1 1232630 GA G 1232631 1232631 + Variant 60490 RCV000054396 SCV000082873 75085 B3GALT6 NM_080605.3:c.353delA NP_542172.2:p.Asp118Alafs NM_080605.3:c.353delA:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 0 0 1 1232632 C CCTG 1232643 1232645 + Variant 421834 RCV000485868 SCV000571148 404899 B3GALT6 NM_080605.3:c.365_367dupTGC NP_542172.2:p.Leu122_Pro123insLeu Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 04, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-08-04 1 0 1 1232645 C T 1232645 1232645 + Variant 387709 RCV000432423 SCV000529832 364408 B3GALT6 NM_080605.3:c.367C>T NP_542172.2:p.Pro123Ser NM_080605.3:c.367C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 05, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-05 1 0 -1 1232684 GTGCTGGCCA G 1232693 1232701 + Variant 60494 RCV000054400 SCV000082877 75089 B3GALT6 NM_080605.3:c.415_423delATGCTGGCC NP_542172.2:p.Met139_Ala141del NM_080605.3:c.415_423delATGCTGGCC:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 0 0 +1 1232684 GTGCTGGCCA G 1232693 1232701 + Variant 60494 RCV000054400 SCV000082877 75089 B3GALT6 NM_080605.3:c.415_423delATGCTGGCC NP_542172.2:p.Met139_Ala141del NM_080605.3:c.415_423delATGCTGGCC:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 0 0 1 1232735 C A 1232735 1232735 + Variant 390636 RCV000431776 SCV000533522 364355 B3GALT6 NM_080605.3:c.457C>A NP_542172.2:p.Leu153Ile NM_080605.3:c.457C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 09, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-09 1 0 1 1232744 G A 1232744 1232744 + Variant 60486 RCV000054392 SCV000082869 75081 B3GALT6 NM_080605.3:c.466G>A NP_542172.2:p.Asp156Asn NM_080605.3:c.466G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 0 0 1 1232793 C T 1232793 1232793 + Variant 373234 RCV000413594 SCV000491813 359211 B3GALT6 NM_080605.3:c.515C>T NP_542172.2:p.Ala172Val NM_080605.3:c.515C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 25, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-25 1 0 1 1232800 G C 1232800 1232800 + Variant 281204 RCV000287240 SCV000524226;SCV000331726 265441 B3GALT6 NM_080605.3:c.522G>C NP_542172.2:p.Glu174Asp NM_080605.3:c.522G>C:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Oct 18, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2016-03-04;2016-10-18 2 0 -1 1232859 CG C 1232866 1232866 + Variant 60492 RCV000054398 SCV000082875 75087 B3GALT6 NM_080605.3:c.588delG NP_542172.2:p.Arg197Alafs NM_080605.3:c.588delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 0 0 -1 1232861 G C 1232861 1232861 + Variant 390607 RCV000425752;RCV000513657 SCV000533484;SCV000608448 364455 B3GALT6 NM_080605.3:c.583G>C NP_542172.2:p.Gly195Arg NM_080605.3:c.583G>C:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 30, 2017 GeneDx;Praxis fuer Humangenetik Tuebingen, GeneDx;Praxis fuer Humangenetik Tuebingen, not specified;not provided germline MedGen:CN169374;MedGen:CN221809;MedGen:CN517202 2016-11-03;2017-04-30 2 0 +1 1232859 CG C 1232866 1232866 + Variant 60492 RCV000054398 SCV000082875 75087 B3GALT6 NM_080605.3:c.588delG NP_542172.2:p.Arg197Alafs NM_080605.3:c.588delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 0 0 +1 1232861 G C 1232861 1232861 + Variant 390607 RCV000425752;RCV000513657 SCV000533484;SCV000608448 364455 B3GALT6 NM_080605.3:c.583G>C NP_542172.2:p.Gly195Arg NM_080605.3:c.583G>C:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 30, 2017 GeneDx;Praxis fuer Humangenetik Tuebingen GeneDx;Praxis fuer Humangenetik Tuebingen not specified;not provided germline MedGen:CN169374;MedGen:CN221809;MedGen:CN517202 2016-11-03;2017-04-30 2 0 1 1232865 G T 1232865 1232865 + Variant 281706 RCV000408441 SCV000332633;SCV000524227 265943 B3GALT6 NM_080605.3:c.587G>T NP_542172.2:p.Gly196Val NM_080605.3:c.587G>T:missense variant Uncertain significance uncertain significance;uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Feb 29, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2015-06-25;2016-02-29 2 0 1 1232882 G A 1232882 1232882 + Variant 423210 RCV000478140 SCV000572872 404900 B3GALT6 NM_080605.3:c.604G>A NP_542172.2:p.Ala202Thr NM_080605.3:c.604G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 30, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-30 1 0 1 1232897 G C 1232897 1232897 + Variant 60495 RCV000054401 SCV000082878 75090 B3GALT6 NM_080605.3:c.619G>C NP_542172.2:p.Asp207His NM_080605.3:c.619G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH FRACTURES 23664118 germline MedGen:C4017378 2013-06-06 0 0 @@ -161,12 +250,15 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 1232972 C T 1232972 1232972 + Variant 60485 RCV000054391 SCV000082868 75080 B3GALT6 NM_080605.3:c.694C>T NP_542172.2:p.Arg232Cys NM_080605.3:c.694C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 0 0 1 1232977 C T 1232977 1232977 + Variant 290128 RCV000295132 SCV000344630 274365 B3GALT6 NM_080605.3:c.699C>T NP_542172.2:p.Asp233= NM_080605.3:c.699C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 05, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-05 1 0 1 1233031 G A 1233031 1233031 + Variant 283369 RCV000266846 SCV000335404 267606 B3GALT6 NM_080605.3:c.753G>A NP_542172.2:p.Pro251= NM_080605.3:c.753G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 04, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-10-04 1 0 +1 1233096 A G 1233096 1233096 + Variant 453100 RCV000522158 SCV000621960 442613 B3GALT6 NM_080605.3:c.818A>G NP_542172.2:p.Asn273Ser NM_080605.3:c.818A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 31, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-31 1 0 1 1233112 G A 1233112 1233112 + Variant 283589 RCV000389593 SCV000335787 267826 B3GALT6 NM_080605.3:c.834G>A NP_542172.2:p.Thr278= NM_080605.3:c.834G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 08, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-10-08 1 0 1 1233131 G A 1233131 1233131 + Variant 283597 RCV000360273 SCV000335795 267834 B3GALT6 NM_080605.3:c.853G>A NP_542172.2:p.Asp285Asn NM_080605.3:c.853G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 08, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-10-08 1 0 1 1233177 G C 1233177 1233177 + Variant 60487 RCV000054393 SCV000082870 75082 B3GALT6 NM_080605.3:c.899G>C NP_542172.2:p.Cys300Ser NM_080605.3:c.899G>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Spondyloepimetaphyseal dysplasia with joint laxity;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1 23664117 germline MedGen:C0432243;OMIM:271640;OMIM:615291.0001;OMIM:615291.0002;OMIM:615291.0003;OMIM:615291.0004;OMIM:615291.0005;OMIM:615291.0006;Office of Rare Diseases:4982;Orphanet:93359;SNOMED CT:254100000 2013-06-06 0 0 1 1233187 G A 1233187 1233187 + Variant 193477 RCV000173549 SCV000224671 190641 B3GALT6 NM_080605.3:c.909G>A NP_542172.2:p.Glu303= NM_080605.3:c.909G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 10, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-02-10 1 0 -1 1233203 T A 1233203 1233203 + Variant 60491 RCV000054397 SCV000082874 75086 B3GALT6 NM_080605.3:c.925T>A NP_542172.2:p.Ser309Thr NM_080605.3:c.925T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615349;Orphanet:75496 2013-06-06 0 0 +1 1233203 T A 1233203 1233203 + Variant 60491 RCV000054397 SCV000082874 75086 B3GALT6 NM_080605.3:c.925T>A NP_542172.2:p.Ser309Thr NM_080605.3:c.925T>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 06, 2013 OMIM OMIM Ehlers-Danlos syndrome, progeroid type, 2;EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 23664117 germline Genetics Home Reference:ehlers-danlos-syndrome;MedGen:C3809210;OMIM:615291.0007;OMIM:615291.0008;OMIM:615291.0009;OMIM:615291.0010;OMIM:615291.0011;OMIM:615349;Orphanet:75496 2013-06-06 0 0 1 1336392 C T 1336392 1336392 - Variant 391198 RCV000437568 SCV000534215 364458 DVL1 NM_004421.2:c.1763G>A NP_004412.2:p.Gly588Glu NM_004421.2:c.1763G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 19, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-19 1 0 +1 1336453 G A 1336453 1336453 - Variant 445443 RCV000514751 SCV000609816 438715 DVL1 NM_004421.2:c.1702C>T NP_004412.2:p.Arg568Trp NM_004421.2:c.1702C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 28, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-08-28 1 0 +1 1337992 TC T 1337993 1337993 - Variant 488046 RCV000577923 SCV000583564 481061 DVL1 NM_004421.2:c.1623delG NP_004412.2:p.Ser542Valfs NM_004421.2:c.1623delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2017 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2 25577943;29276006 unknown GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2017-06-01 1 0 1 1338000 CT C 1338001 1338001 - Variant 208047 RCV000193819 SCV000256690;SCV000243851 204306 DVL1 NM_004421.2:c.1615delA NP_004412.2:p.Ser539Alafs NM_004421.2:c.1615delA:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Jul 30, 2015 GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-07-30;2015-03-26 1 0 1 1338033 TAGGCAGG C 1338033 1338040 - Variant 208050 RCV000194315 SCV000243854;SCV000222664 204307 DVL1 NM_004421.2:c.1576_1583delCCTGCCTAinsG NP_004412.2:p.Pro526Alafs NM_004421.2:c.1576_1583delCCTGCCTAinsG:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided;no assertion criteria provided Jul 30, 2015 GeneReviews;OMIM OMIM;GeneReviews Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 22431878;25577943;25817014 germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30 0 0 1 1338045 AA G 1338045 1338046 - Variant 208043 RCV000192810 SCV000243847;SCV000256686;SCV000222660 204308 DVL1 NM_004421.2:c.1570_1571delTTinsC NP_004412.2:p.Phe524Profs NM_004421.2:c.1570_1571delTTinsC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter Jul 30, 2015 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 1 0 @@ -174,202 +266,258 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 1338086 AC A 1338087 1338087 - Variant 208048 RCV000195217 SCV000256691;SCV000243852 204310 DVL1 NM_004421.2:c.1529delG NP_004412.2:p.Gly510Valfs NM_004421.2:c.1529delG:frameshift variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Jul 30, 2015 GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-07-30;2015-03-26 1 0 1 1338092 AG A 1338094 1338094 - Variant 219223 RCV000208706 SCV000257460 217239 DVL1 NM_004421.2:c.1522delC NP_004412.2:p.Pro508Leufs NM_004421.2:c.1522delC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Dec 01, 2015 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2 23806086;24088041;25577943;26924530 de novo GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-12-01 1 0 1 1338096 CA C 1338097 1338097 - Variant 208045 RCV000195250 SCV000222663;SCV000243849;SCV000256688 204311 DVL1 NM_004421.2:c.1519delT NP_004412.2:p.Trp507Glyfs NM_004421.2:c.1519delT:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter Jul 30, 2015 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25045061;25577943;25817014;25817016 germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 1 0 -1 1338098 GGGGGCAGCCGGGT G 1338099 1338111 - Variant 208044 RCV000193850 SCV000256687;SCV000222659;SCV000243848 204312 DVL1 NM_004421.2:c.1505_1517delACCCGGCTGCCCC NP_004412.2:p.His502Profs NM_004421.2:c.1505_1517delACCCGGCTGCCCC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter Jul 30, 2015 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 1 0 +1 1338098 GGGGGCAGCCGGGT G 1338099 1338111 - Variant 208044 RCV000193850 SCV000256687;SCV000222659;SCV000243848 204312 DVL1 NM_004421.2:c.1505_1517delACCCGGCTGCCCC NP_004412.2:p.His502Profs NM_004421.2:c.1505_1517delACCCGGCTGCCCC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter Jun 01, 2017 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 25577943;25817016;29276006 de novo;germline;unknown GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2017-06-01 1 0 1 1338107 CG C 1338108 1338108 - Variant 208046 RCV000192930 SCV000222661;SCV000243850;SCV000256689 204313 DVL1 NM_004421.2:c.1508delC NP_004412.2:p.Pro503Argfs NM_004421.2:c.1508delC:frameshift variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;no assertion criteria provided;criteria provided, single submitter Jul 30, 2015 GeneReviews;OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;GeneReviews;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2;ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2 10319206;23806086;24088041;25577943;25817016 de novo;germline GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2015-04-02;2015-07-30;2015-03-26 1 0 -1 1338529 G GGCATTGGC 1338530 1338537 - Variant 373812 RCV000413003 SCV000492436 359205 DVL1 NM_004421.2:c.1249_1256dupGCCAATGC NP_004412.2:p.Val420Profs NM_004421.2:c.1249_1256dupGCCAATGC:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Dec 08, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-12-08 1 0 +1 1338107 CGGGTGGGGCAGCG C 1338108 1338120 - Variant 488047 RCV000577891 SCV000583565 481063 DVL1 NM_004421.2:c.1496_1508delCGCTGCCCCACCC NP_004412.2:p.Pro499Argfs NM_004421.2:c.1496_1508delCGCTGCCCCACCC:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2017 Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Robinow syndrome, autosomal dominant 2 25577943;29276006 unknown GeneReviews:NBK268648;Genetics Home Reference:robinow-syndrome;MedGen:C4225363;OMIM:616331;Orphanet:3107;Orphanet:97360 2017-06-01 1 0 +1 1338410 T C 1338410 1338410 - Variant 445553 RCV000514391 SCV000610053 438825 DVL1 NM_004421.2:c.1291A>G NP_004412.2:p.Thr431Ala NM_004421.2:c.1291A>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 20, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-03-20 1 0 +1 1338529 G GGCATTGGC 1338530 1338537 - Variant 373812 RCV000413003 SCV000492436 359205 DVL1 NM_004421.2:c.1249_1256dupGCCAATGC NP_004412.2:p.Val420Profs NM_004421.2:c.1249_1256dupGCCAATGC:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Dec 08, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-12-08 1 0 1 1339388 G A 1339388 1339388 - Variant 391268 RCV000429612 SCV000534300 364462 DVL1 NM_004421.2:c.1106C>T NP_004412.2:p.Ala369Val NM_004421.2:c.1106C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 16, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-16 1 0 -1 1341659 CCA C 1341660 1341661 - Variant 376849 RCV000429733 SCV000510745 363727 DVL1 NM_004421.2:c.605+6_605+7delTG NM_004421.2:c.605+6_605+7delTG:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 18, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-01-18-06:00 1 0 +1 1341659 CCA C 1341660 1341661 - Variant 376849 RCV000429733 SCV000510745 363727 DVL1 NM_004421.2:c.605+6_605+7delTG NM_004421.2:c.605+6_605+7delTG:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 18, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-01-18 1 0 1 1353913 A T 1353913 1353913 - Variant 402162 RCV000454237 SCV000537939 389106 MXRA8 NM_032348.3:c.1238T>A NP_115724.1:p.Ile413Asn NM_032348.3:c.1238T>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter - Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Abnormality of brain morphology 26539891 inherited HP:HP:0012443;Human Phenotype Ontology:HP:0012443;MedGen:C4021085 0000-00-00 1 0 -1 1455821 G A 1455821 1455821 + Variant 423820 RCV000479669 SCV000573565 404901 ATAD3C NM_001039211.2:c.469G>A NP_001034300.2:p.Ala157Thr NM_001039211.2:c.469G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 28, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-28 1 0 1 1512426 C T 1512426 1512426 + Variant 225697 RCV000412620;RCV000488882 SCV000490327;SCV000267602 227512 ATAD3A NM_018188.4:c.158C>T NP_060658.3:p.Thr53Ile NM_001170536.1:c.-297C>T:2KB upstream variant;NM_018188.4:c.158C>T:missense variant Conflicting interpretations of pathogenicity pathogenic;uncertain significance 1 0 1 0 0 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Nov 29, 2016 OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Harel-Yoon syndrome;HAREL-YOON SYNDROME, AUTOSOMAL RECESSIVE;not specified;Congenital cataracts;Ataxia;Seizure 27640307 germline MedGen:C4310677;OMIM:617183;MedGen:CN169374 2016-11-29;2016-04-26 1 1 1 1516035 C G 1516035 1516035 + Variant 432628 RCV000498349 SCV000590377 425308 ATAD3A NM_018188.4:c.229C>G NP_060658.3:p.Leu77Val NM_018188.4:c.229C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 06, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-06 1 0 -1 1529299 C T 1529299 1529299 + Variant 225696 RCV000412539;RCV000488909 SCV000490326;SCV000494159;SCV000267601 227511 ATAD3A NM_018188.4:c.1726C>T NP_060658.3:p.Arg576Trp NM_018188.4:c.1726C>T:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 2 1 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Nov 29, 2016 OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Harel-Yoon syndrome;HAREL-YOON SYNDROME;not provided;Developmental delay;Peripheral neuropathy;Optic atrophy;Cardiomyopathy 27640307 de novo;unknown;germline MedGen:C4310677;OMIM:617183;MedGen:CN221809 2016-11-29;0000-00-00;2016-04-26 1 0 +1 1516057 C T 1516057 1516057 + Variant 452865 RCV000519405 SCV000621709 442620 ATAD3A NM_018188.4:c.251C>T NP_060658.3:p.Thr84Met NM_018188.4:c.251C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 17, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-17 1 0 +1 1520260 C T 1520260 1520260 + Variant 452740 RCV000523197 SCV000621571 442621 ATAD3A NM_018188.4:c.778C>T NP_060658.3:p.Arg260Cys NM_018188.4:c.778C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 23, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-23 1 0 +1 1520284 C T 1520284 1520284 + Variant 452211 RCV000518892 SCV000620999 442622 ATAD3A NM_018188.4:c.802C>T NP_060658.3:p.Gln268Ter NM_018188.4:c.802C>T:nonsense Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 18, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-09-18 1 0 +1 1520588 G C 1520588 1520588 + Variant 453143 RCV000522935 SCV000622009 442623 ATAD3A NM_018188.4:c.865G>C NP_060658.3:p.Val289Leu NM_018188.4:c.865G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 31, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-31 1 0 +1 1520617 G A 1520617 1520617 + Variant 452866 RCV000521220 SCV000621710 442624 ATAD3A NM_018188.4:c.894G>A NP_060658.3:p.Thr298= NM_018188.4:c.894G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 17, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-17 1 0 +1 1529299 C T 1529299 1529299 + Variant 225696 RCV000412539;RCV000488909 SCV000490326;SCV000494159;SCV000267601 227511 ATAD3A NM_018188.4:c.1726C>T NP_060658.3:p.Arg576Trp NM_018188.4:c.1726C>T:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 2 1 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Nov 29, 2016 OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine OMIM;Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine Harel-Yoon syndrome;HAREL-YOON SYNDROME;not provided;Developmental delay;Peripheral neuropathy;Optic atrophy;Cardiomyopathy 27640307 de novo;unknown;germline MedGen:C4310677;OMIM:617183;MedGen:CN517202 2016-11-29;0000-00-00;2016-04-26 1 0 1 1535370 G A 1535370 1535370 - Variant 161196 RCV000148348 SCV000195812 171043 TMEM240 NM_001114748.1:c.511C>T NP_001108220.1:p.Arg171Trp NM_001114748.1:c.511C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 01, 2014 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 0 0 -1 1535372 G A 1535372 1535372 - Variant 161192 RCV000148344;RCV000322616 SCV000597502;SCV000195808;SCV000330042 171039 TMEM240 NM_001114748.1:c.509C>T NP_001108220.1:p.Pro170Leu NM_001114748.1:c.509C>T:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 2 1 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jun 08, 2017 OMIM;Genetic Services Laboratory, University of Chicago;GeneDx OMIM;Genetic Services Laboratory, University of Chicago;GeneDx Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21;not provided;Not Provided 11160961;20050888;20301317;25070513;25741868 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773;MedGen:CN221809 2014-10-01;2017-06-08;2015-11-26 2 0 +1 1535372 G A 1535372 1535372 - Variant 161192 RCV000148344;RCV000322616 SCV000597502;SCV000195808;SCV000330042 171039 TMEM240 NM_001114748.1:c.509C>T NP_001108220.1:p.Pro170Leu NM_001114748.1:c.509C>T:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 2 1 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jun 08, 2017 OMIM;Genetic Services Laboratory, University of Chicago;GeneDx OMIM;Genetic Services Laboratory, University of Chicago;GeneDx Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21;not provided;Not Provided 11160961;20050888;20301317;25070513;25741868 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773;MedGen:CN517202 2014-10-01;2017-06-08;2015-11-26 2 0 1 1535392 G C 1535392 1535392 - Variant 161193 RCV000148345 SCV000195809 171040 TMEM240 NM_001114748.1:c.489C>G NP_001108220.1:p.Tyr163Ter NM_001114748.1:c.489C>G:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 01, 2014 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 0 0 1 1535457 G A 1535457 1535457 - Variant 393221 RCV000424137 SCV000536598 364388 TMEM240 NM_001114748.1:c.424C>T NP_001108220.1:p.Arg142Trp NM_001114748.1:c.424C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 25, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-25 1 0 1 1535589 C T 1535589 1535589 - Variant 373233 RCV000413204 SCV000491812 359223 TMEM240 NM_001114748.1:c.373G>A NP_001108220.1:p.Asp125Asn NM_001114748.1:c.373G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 22, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-22 1 0 1 1535616 G A 1535616 1535616 - Variant 161194 RCV000148346 SCV000195810 171041 TMEM240 NM_001114748.1:c.346C>T NP_001108220.1:p.Arg116Cys NM_001114748.1:c.346C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 01, 2014 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 0 0 1 1535618 A G 1535618 1535618 - Variant 437011 RCV000503526 SCV000597503 427636 TMEM240 NM_001114748.1:c.344T>C NP_001108220.1:p.Val115Ala NM_001114748.1:c.344T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 17, 2015 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-12-17 1 0 1 1535723 G A 1535723 1535723 - Variant 161195 RCV000148347 SCV000195811 171042 TMEM240 NM_001114748.1:c.239C>T NP_001108220.1:p.Thr80Met NM_001114748.1:c.239C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 01, 2014 OMIM OMIM Spinocerebellar ataxia 21;SPINOCEREBELLAR ATAXIA 21 20050888;20301317;25070513 germline GeneReviews:NBK1138;Genetic Alliance:Spinocerebellar+ataxia+21/6755;MedGen:C1843891;OMIM:607454;Office of Rare Diseases:9999;Orphanet:98773 2014-10-01 0 0 -1 1535766 C T 1535766 1535766 - Variant 372833 RCV000413958 SCV000491361 359235 TMEM240 NM_001114748.1:c.196G>A NP_001108220.1:p.Gly66Arg NM_001114748.1:c.196G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Jan 27, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-01-27 1 0 +1 1535766 C T 1535766 1535766 - Variant 372833 RCV000413958 SCV000491361 359235 TMEM240 NM_001114748.1:c.196G>A NP_001108220.1:p.Gly66Arg NM_001114748.1:c.196G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Jan 27, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-01-27 1 0 1 1615612 C A 1615612 1615612 + Variant 218832 RCV000202894 SCV000258233 215186 MIB2 NM_080875.2:c.153C>A NP_543151.2:p.Cys51Ter NM_001170689.1:c.-618C>A:2KB upstream variant;NM_080875.2:c.153C>A:nonsense;NR_033183.1:n.198C>A:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 11, 2015 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 2015-06-11 1 0 1 1705645 TTTTC T 1705646 1705649 - Variant 421783 RCV000480151 SCV000571086 404982 CDK11A NM_024011.3:c.1329_1332delGAAA NP_076916.2:p.Lys444Glnfs NM_024011.3:c.1329_1332delGAAA:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 25, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-25 1 0 1 1787378 C T 1787378 1787378 - Variant 224718 RCV000210260 SCV000266340 226495 GNB1 NM_002074.4:c.976G>A NP_002065.1:p.Ala326Thr NM_002074.4:c.976G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 10, 2016 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Intellectual disability;Global developmental delay;Generalized tonic-clonic seizures;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0001249;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0002069;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001306;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002069;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002407;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007252;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0010520;MedGen:C0036572;MedGen:C0494475;MedGen:C1843367;MedGen:C4020875;MedGen:CN001147 2016-02-10 0 0 -1 1789102 G A 1789102 1789102 - Variant 444148 RCV000512793 SCV000608449 437788 GNB1 NM_002074.4:c.867C>T NP_002065.1:p.Tyr289= NM_002074.4:c.867C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 31, 2017 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 1 0 -1 1804503 C T 1804503 1804503 - Variant 444149 RCV000513217 SCV000608450 437789 GNB1 NM_002074.4:c.346G>A NP_002065.1:p.Gly116Ser NM_002074.4:c.346G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 31, 2017 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 1 0 -1 1804548 T C 1804548 1804548 - Variant 224717 RCV000210283;RCV000225171;RCV000480671 SCV000266339;SCV000282065;SCV000571181 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 2 1 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Mar 17, 2017 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Expressive language delay;Seizures;Focal seizures with impairment of consciousness or awareness;Intellectual disability;Global developmental delay;Generalized tonic-clonic seizures;Developmental regression;Multifocal epileptiform discharges;EEG with generalized epileptiform discharges;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42;not provided;Not Provided 21956720;27108799 de novo;germline Genetic Alliance:Seizures/6489;HP:HP:0001249;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0002069;HP:HP:0002376;HP:HP:0002384;HP:HP:0002474;HP:HP:0010841;HP:HP:0011198;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001306;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002069;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002384;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002407;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002471;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002489;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006797;Human Phenotype Ontology:HP:0006828;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006854;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007037;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007242;Human Phenotype Ontology:HP:0007247;Human Phenotype Ontology:HP:0007252;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;MedGen:C0036572;MedGen:C0149958;MedGen:C0494475;MedGen:C1843367;MedGen:C1847610;MedGen:C1855009;MedGen:C4020875;MedGen:C4021219;MedGen:C4023476;MedGen:CN001147;MedGen:C4310774;OMIM:616973;MedGen:CN221809 2016-02-10;2016-08-08;2017-03-17 1 0 +1 1789102 G A 1789102 1789102 - Variant 444148 RCV000512793 SCV000608449 437788 GNB1 NM_002074.4:c.867C>T NP_002065.1:p.Tyr289= NM_002074.4:c.867C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 31, 2017 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 1 0 +1 1789139 G C 1789139 1789139 - Variant 452928 RCV000523284 SCV000621777 442673 GNB1 NM_002074.4:c.830C>G NP_002065.1:p.Ser277Cys NM_002074.4:c.830C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 17, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-17 1 0 +1 1804461 C T 1804461 1804461 - Variant 452797 RCV000523422 SCV000621634 442675 GNB1 NM_002074.4:c.388G>A NP_002065.1:p.Glu130Lys NM_002074.4:c.388G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Oct 16, 2017 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2017-10-16 1 0 +1 1804503 C T 1804503 1804503 - Variant 444149 RCV000513217 SCV000608450 437789 GNB1 NM_002074.4:c.346G>A NP_002065.1:p.Gly116Ser NM_002074.4:c.346G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 31, 2017 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-05-31 1 0 +1 1804548 T C 1804548 1804548 - Variant 224717 RCV000210283;RCV000225171;RCV000480671 SCV000266339;SCV000282065;SCV000571181 226496 GNB1 NM_002074.4:c.301A>G NP_002065.1:p.Met101Val NM_002074.4:c.301A>G:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 2 1 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Mar 17, 2017 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Expressive language delay;Seizures;Focal seizures with impairment of consciousness or awareness;Intellectual disability;Global developmental delay;Generalized tonic-clonic seizures;Developmental regression;Multifocal epileptiform discharges;EEG with generalized epileptiform discharges;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42;not provided;Not Provided 21956720;27108799 de novo;germline Genetic Alliance:Seizures/6489;HP:HP:0001249;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0002069;HP:HP:0002376;HP:HP:0002384;HP:HP:0002474;HP:HP:0010841;HP:HP:0011198;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001306;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002069;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002384;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002407;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002471;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002489;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006797;Human Phenotype Ontology:HP:0006828;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006854;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007037;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007242;Human Phenotype Ontology:HP:0007247;Human Phenotype Ontology:HP:0007252;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;MedGen:C0036572;MedGen:C0149958;MedGen:C0494475;MedGen:C1843367;MedGen:C1847610;MedGen:C1855009;MedGen:C4020875;MedGen:C4021219;MedGen:C4023476;MedGen:CN001147;MedGen:C4310774;OMIM:616973;MedGen:CN517202 2016-02-10;2016-08-08;2017-03-17 1 0 1 1804565 A G 1804565 1804565 - Variant 224716 RCV000210270 SCV000266338 226497 GNB1 NM_002074.4:c.284T>C NP_002065.1:p.Leu95Pro NM_001282538.1:c.-17T>C:5 prime UTR variant;NM_002074.4:c.284T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 10, 2016 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Expressive language delay;Seizures;Failure to thrive;Feeding difficulties;Nystagmus;Cortical visual impairment;Strabismus;Intellectual disability;Global developmental delay;Growth delay;Limb hypertonia;Inability to walk;Multifocal epileptiform discharges;Muscular hypotonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0000639;HP:HP:0001249;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001508;HP:HP:0001510;HP:HP:0002474;HP:HP:0002509;HP:HP:0002540;HP:HP:0010841;HP:HP:0011968;HP:HP:0100704;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000595;Human Phenotype Ontology:HP:0000639;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002540;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0011968;Human Phenotype Ontology:HP:0100704;MedGen:C0028738;MedGen:C0036572;MedGen:C0038379;MedGen:C0155320;MedGen:C0231246;MedGen:C0232466;MedGen:C0560046;MedGen:C1838391;MedGen:C1843367;MedGen:C1847610;MedGen:C3552463;MedGen:C4020875;MedGen:C4021219;MedGen:CN001147 2016-02-10 0 0 -1 1806476 T C 1806476 1806476 - Variant 422536 RCV000486531 SCV000572033 404989 GNB1 NM_002074.4:c.266A>G NP_002065.1:p.Lys89Arg NM_002074.4:c.266A>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Oct 24, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-10-24 1 0 -1 1806503 A C 1806503 1806503 - Variant 391609 RCV000439050 SCV000534719 364646 GNB1 NM_002074.4:c.239T>G NP_002065.1:p.Ile80Ser NM_002074.4:c.239T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Dec 16, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-12-16 1 0 -1 1806503 A G 1806503 1806503 - Variant 208722 RCV000190738;RCV000208571;RCV000210259;RCV000225179;RCV000225295;RCV000418135 SCV000244179;SCV000263295;SCV000266337;SCV000282059;SCV000282060;SCV000529467 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Conflicting interpretations of pathogenicity uncertain significance;pathogenic 5 0 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter;no assertion criteria provided Aug 08, 2016 Ambry Genetics;Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes;Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Ambry Genetics;Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes;Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Inborn genetic diseases;MR/ID/DD;Dermatologic (child onset);Neurologic (child onset);Ophthalmologic (child onset);Dystonia;Hypothyroidism;Intellectual disability;Growth delay;Infantile axial hypotonia;Upper limb hypertonia;Cleft palate;Expressive language delay;Seizures;Failure to thrive;Nystagmus;Strabismus;Global developmental delay;Developmental regression;Limb hypertonia;Inability to walk;Multifocal epileptiform discharges;EEG with generalized epileptiform discharges;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42;Myelodysplastic syndrome;not provided;Not Provided 22947299;23037933;23169492;23619275;23652378;23881473;24022298;24121147;24394680;25356970;25560141;25626707;25730230;27108799;20301334;21956720;25485910 germline;de novo;unknown;somatic MeSH:D030342;MedGen:C0950123;GeneTests:25706;Genetic Alliance:Dystonia/2405;Human Phenotype Ontology:HP:0000175;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000750;Human Phenotype Ontology:HP:0000821;Human Phenotype Ontology:HP:0000851;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001332;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002451;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0003222;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0008203;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0009062;Human Phenotype Ontology:HP:0012758;Human Phenotype Ontology:HP:0012759;Human Phenotype Ontology:HP:0200049;MedGen:C0008925;MedGen:C0013421;MedGen:C0020676;MedGen:C0393593;MedGen:C1843367;MedGen:C1970931;MedGen:C2750951;MedGen:C3552463;MedGen:C3806604;MedGen:C4021898;MedGen:CN001379;MedGen:CN117790;MedGen:CN200780;OMIM:PS128100;Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0000639;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001508;HP:HP:0001510;HP:HP:0002376;HP:HP:0002474;HP:HP:0002509;HP:HP:0002540;HP:HP:0010841;HP:HP:0011198;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000639;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002471;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002489;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002540;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006797;Human Phenotype Ontology:HP:0006828;Human Phenotype Ontology:HP:0006854;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007037;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007242;Human Phenotype Ontology:HP:0007247;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;MedGen:C0028738;MedGen:C0036572;MedGen:C0038379;MedGen:C0231246;MedGen:C0560046;MedGen:C1838391;MedGen:C1847610;MedGen:C1855009;MedGen:C4020875;MedGen:C4021219;MedGen:C4023476;MedGen:CN001147;MedGen:C4310774;OMIM:616973;Genetic Alliance:Myelodysplastic+syndromes/5021;MeSH:D009190;MedGen:C0026986;OMIM:137295.0002;OMIM:137295.0014;OMIM:614286;Orphanet:52688;MedGen:CN221809 0000-00-00;2015-12-04;2016-02-10;2016-08-08;2016-06-28 1 1 +1 1806476 T C 1806476 1806476 - Variant 422536 RCV000486531 SCV000572033 404989 GNB1 NM_002074.4:c.266A>G NP_002065.1:p.Lys89Arg NM_002074.4:c.266A>G:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Oct 24, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-10-24 1 0 +1 1806503 A C 1806503 1806503 - Variant 391609 RCV000439050 SCV000534719 364646 GNB1 NM_002074.4:c.239T>G NP_002065.1:p.Ile80Ser NM_002074.4:c.239T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Dec 16, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-12-16 1 0 +1 1806503 A G 1806503 1806503 - Variant 208722 RCV000190738;RCV000208571;RCV000210259;RCV000225179;RCV000225295;RCV000418135 SCV000244179;SCV000263295;SCV000266337;SCV000282059;SCV000282060;SCV000529467 205216 GNB1 NM_002074.4:c.239T>C NP_002065.1:p.Ile80Thr NM_001282538.1:c.-62T>C:5 prime UTR variant;NM_002074.4:c.239T>C:missense variant Conflicting interpretations of pathogenicity uncertain significance;pathogenic 5 0 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter;no assertion criteria provided Aug 08, 2016 Ambry Genetics;Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes;Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Ambry Genetics;Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes;Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Inborn genetic diseases;MR/ID/DD;Dermatologic (child onset);Neurologic (child onset);Ophthalmologic (child onset);Dystonia;Hypothyroidism;Intellectual disability;Growth delay;Infantile axial hypotonia;Upper limb hypertonia;Cleft palate;Expressive language delay;Seizures;Failure to thrive;Nystagmus;Strabismus;Global developmental delay;Developmental regression;Limb hypertonia;Inability to walk;Multifocal epileptiform discharges;EEG with generalized epileptiform discharges;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42;Myelodysplastic syndrome;not provided;Not Provided 22947299;23037933;23169492;23619275;23652378;23881473;24022298;24121147;24394680;25356970;25560141;25626707;25730230;27108799;20301334;21956720;25485910 germline;de novo;unknown;somatic MeSH:D030342;MedGen:C0950123;GeneTests:25706;Genetic Alliance:Dystonia/2405;Human Phenotype Ontology:HP:0000175;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000750;Human Phenotype Ontology:HP:0000821;Human Phenotype Ontology:HP:0000851;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001332;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002451;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0003222;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0008203;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0009062;Human Phenotype Ontology:HP:0012758;Human Phenotype Ontology:HP:0012759;Human Phenotype Ontology:HP:0200049;MedGen:C0008925;MedGen:C0013421;MedGen:C0020676;MedGen:C0393593;MedGen:C1843367;MedGen:C1970931;MedGen:C2750951;MedGen:C3552463;MedGen:C3806604;MedGen:C4021898;MedGen:CN001379;MedGen:CN117790;MedGen:CN200780;OMIM:PS128100;Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0000639;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001508;HP:HP:0001510;HP:HP:0002376;HP:HP:0002474;HP:HP:0002509;HP:HP:0002540;HP:HP:0010841;HP:HP:0011198;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000639;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002376;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002471;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002474;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002489;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002540;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006797;Human Phenotype Ontology:HP:0006828;Human Phenotype Ontology:HP:0006854;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007037;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007192;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007242;Human Phenotype Ontology:HP:0007247;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;MedGen:C0028738;MedGen:C0036572;MedGen:C0038379;MedGen:C0231246;MedGen:C0560046;MedGen:C1838391;MedGen:C1847610;MedGen:C1855009;MedGen:C4020875;MedGen:C4021219;MedGen:C4023476;MedGen:CN001147;MedGen:C4310774;OMIM:616973;Genetic Alliance:Myelodysplastic+syndromes/5021;MeSH:D009190;MedGen:C0026986;OMIM:137295.0002;OMIM:137295.0014;OMIM:614286;Orphanet:52688;MedGen:CN517202 0000-00-00;2015-12-04;2016-02-10;2016-08-08;2016-06-28 1 1 1 1806503 A T 1806503 1806503 - Variant 224715 RCV000210280;RCV000225195;RCV000225283 SCV000266336;SCV000282062;SCV000282063 226498 GNB1 NM_002074.4:c.239T>A NP_002065.1:p.Ile80Asn NM_001282538.1:c.-62T>A:5 prime UTR variant;NM_002074.4:c.239T>A:missense variant Pathogenic pathogenic 3 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 08, 2016 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM Seizures;Failure to thrive;Feeding difficulties;Focal seizures with impairment of consciousness or awareness;Cortical visual impairment;Global developmental delay;Growth delay;Limb hypertonia;Infantile muscular hypotonia;Multifocal epileptiform discharges;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42;Acute lymphoid leukemia 21956720;27108799;25485910 de novo;unknown;somatic Genetic Alliance:Seizures/6489;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001508;HP:HP:0001510;HP:HP:0002384;HP:HP:0002509;HP:HP:0008947;HP:HP:0010841;HP:HP:0011968;HP:HP:0100704;Human Phenotype Ontology:HP:0000595;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002384;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002449;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002523;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0008947;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010572;Human Phenotype Ontology:HP:0010841;Human Phenotype Ontology:HP:0011968;Human Phenotype Ontology:HP:0100704;MedGen:C0036572;MedGen:C0149958;MedGen:C0155320;MedGen:C0231246;MedGen:C0232466;MedGen:C1838391;MedGen:C1860834;MedGen:C3552463;MedGen:C4020875;MedGen:C4021219;MedGen:CN001147;MedGen:C4310774;OMIM:616973;Gene:100310785;Genetic Alliance:Acute+Lymphoblastic+Leukemia/188;MedGen:C0023449;OMIM:613065;Office of Rare Diseases:522;Orphanet:513;SNOMED CT:91857003 2016-02-10;2016-08-08 0 0 -1 1806509 T C 1806509 1806509 - Variant 224714 RCV000210269;RCV000225134 SCV000266335;SCV000282064 226499 GNB1 NM_002074.4:c.233A>G NP_002065.1:p.Lys78Arg NM_001282538.1:c.-68A>G:5 prime UTR variant;NM_002074.4:c.233A>G:missense variant Pathogenic pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 08, 2016 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM Seizures;Feeding difficulties;Strabismus;Global developmental delay;Growth delay;Infantile muscular hypotonia;EEG with generalized epileptiform discharges;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 21956720;27108799 de novo;germline Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001510;HP:HP:0008947;HP:HP:0011198;HP:HP:0011968;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002449;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002523;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0008947;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010572;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;Human Phenotype Ontology:HP:0011968;MedGen:C0036572;MedGen:C0038379;MedGen:C0232466;MedGen:C1860834;MedGen:C3552463;MedGen:C4020875;MedGen:C4023476;MedGen:CN001147;MedGen:C4310774;OMIM:616973 2016-02-10;2016-08-08 0 0 +1 1806509 T C 1806509 1806509 - Variant 224714 RCV000210269;RCV000225134;RCV000523590 SCV000266335;SCV000282064;SCV000618168 226499 GNB1 NM_002074.4:c.233A>G NP_002065.1:p.Lys78Arg NM_001282538.1:c.-68A>G:5 prime UTR variant;NM_002074.4:c.233A>G:missense variant Pathogenic pathogenic 3 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Sep 29, 2017 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM;GeneDx Seizures;Feeding difficulties;Strabismus;Global developmental delay;Growth delay;Infantile muscular hypotonia;EEG with generalized epileptiform discharges;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42;not provided;Not Provided 21956720;27108799 de novo;germline Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0001250;HP:HP:0001252;HP:HP:0001263;HP:HP:0001510;HP:HP:0008947;HP:HP:0011198;HP:HP:0011968;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0001434;Human Phenotype Ontology:HP:0001510;Human Phenotype Ontology:HP:0001512;Human Phenotype Ontology:HP:0001514;Human Phenotype Ontology:HP:0001517;Human Phenotype Ontology:HP:0001532;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002449;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002523;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008847;Human Phenotype Ontology:HP:0008870;Human Phenotype Ontology:HP:0008886;Human Phenotype Ontology:HP:0008893;Human Phenotype Ontology:HP:0008926;Human Phenotype Ontology:HP:0008947;Human Phenotype Ontology:HP:0010520;Human Phenotype Ontology:HP:0010572;Human Phenotype Ontology:HP:0010842;Human Phenotype Ontology:HP:0011198;Human Phenotype Ontology:HP:0011968;MedGen:C0036572;MedGen:C0038379;MedGen:C0232466;MedGen:C1860834;MedGen:C3552463;MedGen:C4020875;MedGen:C4023476;MedGen:CN001147;MedGen:C4310774;OMIM:616973;MedGen:CN517202 2016-02-10;2016-08-08;2017-09-29 1 0 1 1806512 C G 1806512 1806512 - Variant 431082 RCV000496115 SCV000574520 424605 GNB1 NM_002074.4:c.230G>C NP_002065.1:p.Gly77Ala NM_002074.4:c.230G>C:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter - KK Women’s and Children’s Hospital KK Women’s and Children’s Hospital Mental retardation, autosomal dominant 42 25741868;27759915 de novo Human Phenotype Ontology:HP:0000175;Human Phenotype Ontology:HP:0000565;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001290;Human Phenotype Ontology:HP:0001332;Human Phenotype Ontology:HP:0006721;MedGen:C4310774;OMIM:616973 0000-00-00 1 0 1 1806513 C T 1806513 1806513 - Variant 224713 RCV000210256 SCV000266334 226500 GNB1 NM_002074.4:c.229G>A NP_002065.1:p.Gly77Ser NM_001282538.1:c.-72G>A:5 prime UTR variant;NM_002074.4:c.229G>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 10, 2016 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Global developmental delay;Muscular hypotonia 21956720;27108799 de novo HP:HP:0001252;HP:HP:0001263;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;MedGen:C4020875;MedGen:CN001147 2016-02-10 0 0 1 1806514 A C 1806514 1806514 - Variant 224712 RCV000210277 SCV000266333 226501 GNB1 NM_002074.4:c.228T>G NP_002065.1:p.Asp76Glu NM_001282538.1:c.-73T>G:5 prime UTR variant;NM_002074.4:c.228T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 10, 2016 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Institute for Genomic Medicine, Columbia University,Columbia University Medical Center Seizures;Failure to thrive;Focal seizures with impairment of consciousness or awareness;Strabismus;Global developmental delay;Limb hypertonia 21956720;27108799 de novo Genetic Alliance:Seizures/6489;HP:HP:0000486;HP:HP:0001250;HP:HP:0001263;HP:HP:0001508;HP:HP:0002384;HP:HP:0002509;Human Phenotype Ontology:HP:0000486;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001250;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001275;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001303;Human Phenotype Ontology:HP:0001508;Human Phenotype Ontology:HP:0001535;Human Phenotype Ontology:HP:0002125;Human Phenotype Ontology:HP:0002182;Human Phenotype Ontology:HP:0002279;Human Phenotype Ontology:HP:0002306;Human Phenotype Ontology:HP:0002348;Human Phenotype Ontology:HP:0002384;Human Phenotype Ontology:HP:0002391;Human Phenotype Ontology:HP:0002417;Human Phenotype Ontology:HP:0002430;Human Phenotype Ontology:HP:0002431;Human Phenotype Ontology:HP:0002432;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002434;Human Phenotype Ontology:HP:0002437;Human Phenotype Ontology:HP:0002466;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002479;Human Phenotype Ontology:HP:0002509;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002794;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0006997;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008853;Human Phenotype Ontology:HP:0008878;Human Phenotype Ontology:HP:0008916;Human Phenotype Ontology:HP:0010520;MedGen:C0036572;MedGen:C0038379;MedGen:C0149958;MedGen:C0231246;MedGen:C1838391;MedGen:C4020875 2016-02-10 0 0 1 1806515 T C 1806515 1806515 - Variant 224711 RCV000210265;RCV000225254;RCV000225357 SCV000266332;SCV000282057;SCV000282058 226502 GNB1 NM_002074.4:c.227A>G NP_002065.1:p.Asp76Gly NM_001282538.1:c.-74A>G:5 prime UTR variant;NM_002074.4:c.227A>G:missense variant Pathogenic pathogenic 3 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 08, 2016 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM Institute for Genomic Medicine, Columbia University,Columbia University Medical Center;OMIM Intellectual disability;Global developmental delay;Infantile muscular hypotonia;Muscular hypotonia;Mental retardation, autosomal dominant 42;MENTAL RETARDATION, AUTOSOMAL DOMINANT 42;Acute lymphoid leukemia 21956720;27108799;25485910 de novo;unknown;somatic HP:HP:0001249;HP:HP:0001252;HP:HP:0001263;HP:HP:0008947;Human Phenotype Ontology:HP:0000730;Human Phenotype Ontology:HP:0000754;Human Phenotype Ontology:HP:0001249;Human Phenotype Ontology:HP:0001252;Human Phenotype Ontology:HP:0001255;Human Phenotype Ontology:HP:0001263;Human Phenotype Ontology:HP:0001267;Human Phenotype Ontology:HP:0001277;Human Phenotype Ontology:HP:0001286;Human Phenotype Ontology:HP:0001292;Human Phenotype Ontology:HP:0001318;Human Phenotype Ontology:HP:0002122;Human Phenotype Ontology:HP:0002192;Human Phenotype Ontology:HP:0002316;Human Phenotype Ontology:HP:0002382;Human Phenotype Ontology:HP:0002386;Human Phenotype Ontology:HP:0002402;Human Phenotype Ontology:HP:0002433;Human Phenotype Ontology:HP:0002449;Human Phenotype Ontology:HP:0002458;Human Phenotype Ontology:HP:0002473;Human Phenotype Ontology:HP:0002482;Human Phenotype Ontology:HP:0002499;Human Phenotype Ontology:HP:0002523;Human Phenotype Ontology:HP:0002532;Human Phenotype Ontology:HP:0002543;Human Phenotype Ontology:HP:0003767;Human Phenotype Ontology:HP:0006793;Human Phenotype Ontology:HP:0006833;Human Phenotype Ontology:HP:0006867;Human Phenotype Ontology:HP:0006885;Human Phenotype Ontology:HP:0006935;Human Phenotype Ontology:HP:0007005;Human Phenotype Ontology:HP:0007094;Human Phenotype Ontology:HP:0007106;Human Phenotype Ontology:HP:0007154;Human Phenotype Ontology:HP:0007174;Human Phenotype Ontology:HP:0007176;Human Phenotype Ontology:HP:0007180;Human Phenotype Ontology:HP:0007224;Human Phenotype Ontology:HP:0007228;Human Phenotype Ontology:HP:0007342;Human Phenotype Ontology:HP:0008947;Human Phenotype Ontology:HP:0010572;MedGen:C1843367;MedGen:C1860834;MedGen:C4020875;MedGen:CN001147;MedGen:C4310774;OMIM:616973;Gene:100310785;Genetic Alliance:Acute+Lymphoblastic+Leukemia/188;MedGen:C0023449;OMIM:613065;Office of Rare Diseases:522;Orphanet:513;SNOMED CT:91857003 2016-02-10;2016-08-08 0 0 1 2024923 G A 2024923 2024923 + Variant 256824 RCV000245842 SCV000305551 249668 GABRD NM_000815.4:c.69-19G>A NM_000815.4:c.69-19G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 2025020 C T 2025020 2025020 + Variant 374418 RCV000416042 SCV000493139 361304 GABRD NM_000815.4:c.147C>T NP_000806.2:p.Ala49= NM_000815.4:c.147C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 31, 2016 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2016-08-31 1 0 +1 2024957 C T 2024957 2024957 + Variant 460016 RCV000533983 SCV000632051 447688 GABRD NM_000815.4:c.84C>T NP_000806.2:p.Ile28= NM_000815.4:c.84C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 23, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-01-23 1 0 +1 2024969 G C 2024969 2024969 + Variant 460019 RCV000538743 SCV000632054 447653 GABRD NM_000815.4:c.96G>C NP_000806.2:p.Val32= NM_000815.4:c.96G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 26, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-26 1 0 +1 2025020 C T 2025020 2025020 + Variant 374418 RCV000416042 SCV000493139 361304 GABRD NM_000815.4:c.147C>T NP_000806.2:p.Ala49= NM_000815.4:c.147C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 31, 2016 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2016-08-31 1 0 +1 2025531 C T 2025531 2025531 + Variant 460008 RCV000555228 SCV000632041 447663 GABRD NM_000815.4:c.263C>T NP_000806.2:p.Thr88Met NM_000815.4:c.263C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 04, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-05-04 1 0 1 2025598 T C 2025598 2025598 + Variant 256823 RCV000254456 SCV000305550 249669 GABRD NM_000815.4:c.330T>C NP_000806.2:p.Gly110= NM_000815.4:c.330T>C:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 2025673 C T 2025673 2025673 + Variant 460009 RCV000533383 SCV000632042 447690 GABRD NM_000815.4:c.405C>T NP_000806.2:p.His135= NM_000815.4:c.405C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Aug 12, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-08-12 1 0 +1 2025682 G A 2025682 2025682 + Variant 460010 RCV000543716 SCV000632043 447710 GABRD NM_000815.4:c.414G>A NP_000806.2:p.Thr138= NM_000815.4:c.414G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 28, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-28 1 0 +1 2025744 C T 2025744 2025744 + Variant 447367 RCV000516909;RCV000557679 SCV000613370;SCV000632044 440428 GABRD NM_000815.4:c.470+6C>T NM_000815.4:c.470+6C>T:intron variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jul 06, 2017 Athena Diagnostics Inc;Invitae Athena Diagnostics Inc;Invitae not specified;Idiopathic generalized epilepsy 26467025;28492532 germline MedGen:CN169374;Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-06-09;2017-07-06 1 1 +1 2027569 C A 2027569 2027569 + Variant 460011 RCV000536140 SCV000632045 447557 GABRD NM_000815.4:c.471-8C>A NM_000815.4:c.471-8C>A:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 16, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-06-16 1 0 +1 2027598 C T 2027598 2027598 + Variant 460012 RCV000546205 SCV000632046 447712 GABRD NM_000815.4:c.492C>T NP_000806.2:p.Cys164= NM_000815.4:c.492C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 05, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-03-05 1 0 +1 2027628 C T 2027628 2027628 + Variant 460013 RCV000556453 SCV000632047 447670 GABRD NM_000815.4:c.522C>T NP_000806.2:p.Asp174= NM_000815.4:c.522C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 19, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-19 1 0 1 2027636 A C 2027636 2027636 + Variant 16212 RCV000017598 SCV000037871 31251 GABRD NM_000815.4:c.530A>C NP_000806.2:p.Glu177Ala NM_000815.4:c.530A>C:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 01, 2004 OMIM OMIM Generalized epilepsy with febrile seizures plus type 5;GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO 15115768 germline Genetics Home Reference:genetic-epilepsy-with-febrile-seizures-plus;MedGen:C3150401;OMIM:613060 2004-07-01 0 0 -1 2028260 G A 2028260 2028260 + Variant 16213 RCV000017599;RCV000017600;RCV000022558 SCV000037872;SCV000037873;SCV000043847 31252 GABRD NM_000815.4:c.659G>A NP_000806.2:p.Arg220His NM_000815.4:c.659G>A:missense variant risk factor risk factor 0 0 0 0 0 no assertion criteria provided no assertion criteria provided Jun 01, 2005 OMIM OMIM Generalized epilepsy with febrile seizures plus type 5;GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO;Epilepsy, juvenile myoclonic 7;Epilepsy, idiopathic generalized 10 15115768;16023832 germline Genetics Home Reference:genetic-epilepsy-with-febrile-seizures-plus;MedGen:C3150401;OMIM:613060;MedGen:C2751604;OMIM:137163.0002;Genetic Alliance:Epilepsy%2C+idiopathic+generalized+10/8327;MedGen:C2751603 2005-06-01 0 0 +1 2028197 G A 2028197 2028197 + Variant 447368 RCV000518032 SCV000613371 440429 GABRD NM_000815.4:c.596G>A NP_000806.2:p.Ser199Asn NM_000815.4:c.596G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 20, 2016 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2016-12-20 1 0 +1 2028260 G A 2028260 2028260 + Variant 16213 RCV000017599;RCV000017600;RCV000022558;RCV000535201 SCV000037872;SCV000037873;SCV000043847;SCV000632048 31252 GABRD NM_000815.4:c.659G>A NP_000806.2:p.Arg220His NM_000815.4:c.659G>A:missense variant Benign, risk factor risk factor;benign 0 0 0 0 1 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Aug 14, 2017 OMIM;Invitae OMIM;Invitae Generalized epilepsy with febrile seizures plus type 5;GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO;Epilepsy, juvenile myoclonic 7;Epilepsy, idiopathic generalized 10;Idiopathic generalized epilepsy 15115768;16023832;28492532 germline Genetics Home Reference:genetic-epilepsy-with-febrile-seizures-plus;MedGen:C3150401;OMIM:613060;MedGen:C2751604;OMIM:137163.0002;Genetic Alliance:Epilepsy%2C+idiopathic+generalized+10/8327;MedGen:C2751603;Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2005-06-01;2017-08-14 1 0 1 2028269 C T 2028269 2028269 + Variant 218470 RCV000203171 SCV000257725 215187 GABRD NM_000815.4:c.668C>T NP_000806.2:p.Thr223Met NM_000815.4:c.668C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 14, 2015 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;not specified unknown MedGen:CN169374 2015-04-14 1 0 -1 2029194 G A 2029194 2029194 + Variant 235308 RCV000224860 SCV000280781 236995 GABRD NM_000815.4:c.775G>A NP_000806.2:p.Val259Ile NM_000815.4:c.775G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 01, 2016 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-02-01-06:00 1 0 +1 2029147 T C 2029147 2029147 + Variant 460014 RCV000550107 SCV000632049 447714 GABRD NM_000815.4:c.728T>C NP_000806.2:p.Leu243Pro NM_000815.4:c.728T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 20, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-20 1 0 +1 2029194 G A 2029194 2029194 + Variant 235308 RCV000224860 SCV000280781 236995 GABRD NM_000815.4:c.775G>A NP_000806.2:p.Val259Ile NM_000815.4:c.775G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 01, 2016 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2016-02-01 1 0 1 2029235 C T 2029235 2029235 + Variant 256825 RCV000248963 SCV000305552 249670 GABRD NM_000815.4:c.816C>T NP_000806.2:p.Ser272= NM_000815.4:c.816C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 +1 2029250 C T 2029250 2029250 + Variant 460015 RCV000528248 SCV000632050 447672 GABRD NM_000815.4:c.831C>T NP_000806.2:p.Pro277= NM_000815.4:c.831C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Feb 23, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-02-23 1 0 +1 2029570 G A 2029570 2029570 + Variant 460017 RCV000550297 SCV000632052 447427 GABRD NM_000815.4:c.867G>A NP_000806.2:p.Thr289= NM_000815.4:c.867G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 22, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-04-22 1 0 +1 2029672 C A 2029672 2029672 + Variant 460018 RCV000528733 SCV000632053 447681 GABRD NM_000815.4:c.969C>A NP_000806.2:p.Ala323= NM_000815.4:c.969C>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 28, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-06-28 1 0 +1 2029705 C T 2029705 2029705 + Variant 460002 RCV000540976 SCV000632034 447558 GABRD NM_000815.4:c.1002C>T NP_000806.2:p.Asn334= NM_000815.4:c.1002C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Aug 12, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-08-12 1 0 1 2029969 C T 2029969 2029969 + Variant 256822 RCV000249647 SCV000305549 249671 GABRD NM_000815.4:c.1060-14C>T NM_000815.4:c.1060-14C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 2030031 G A 2030031 2030031 + Variant 375540 RCV000417018 SCV000494562 362315 GABRD NM_000815.4:c.1108G>A NP_000806.2:p.Val370Ile NM_000815.4:c.1108G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 16, 2016 Neurogenetics Laboratory - MEYER,AOU Meyer Neurogenetics Laboratory - MEYER,AOU Meyer Epileptic encephalopathy 25741868 unknown Human Phenotype Ontology:HP:0200134;MedGen:C0543888 2016-11-16 1 0 +1 2029976 C T 2029976 2029976 + Variant 460003 RCV000555572 SCV000632035 447724 GABRD NM_000815.4:c.1060-7C>T NM_000815.4:c.1060-7C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 16, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-05-16 1 0 +1 2030027 C T 2030027 2030027 + Variant 460004 RCV000524915 SCV000632036 447683 GABRD NM_000815.4:c.1104C>T NP_000806.2:p.Ala368= NM_000815.4:c.1104C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Aug 11, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-08-11 1 0 +1 2030028 G A 2030028 2030028 + Variant 447365 RCV000517771 SCV000613368 440430 GABRD NM_000815.4:c.1105G>A NP_000806.2:p.Gly369Ser NM_000815.4:c.1105G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 23, 2017 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2017-02-23 1 0 +1 2030030 C A 2030030 2030030 + Variant 460005 RCV000541195 SCV000632037 447685 GABRD NM_000815.4:c.1107C>A NP_000806.2:p.Gly369= NM_000815.4:c.1107C>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter May 18, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-05-18 1 0 +1 2030031 G A 2030031 2030031 + Variant 375540 RCV000417018;RCV000556057 SCV000494562;SCV000632038 362315 GABRD NM_000815.4:c.1108G>A NP_000806.2:p.Val370Ile NM_000815.4:c.1108G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2017 Neurogenetics Laboratory - MEYER,AOU Meyer;Invitae Neurogenetics Laboratory - MEYER,AOU Meyer;Invitae Epileptic encephalopathy;Idiopathic generalized epilepsy 25741868;28492532 unknown;germline Human Phenotype Ontology:HP:0200134;MedGen:C0543888;Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2016-11-16;2017-06-14 2 0 +1 2030073 C T 2030073 2030073 + Variant 460006 RCV000529757 SCV000632039 447731 GABRD NM_000815.4:c.1150C>T NP_000806.2:p.Pro384Ser NM_000815.4:c.1150C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 29, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-04-29 1 0 +1 2030089 G C 2030089 2030089 + Variant 447366 RCV000518660 SCV000613369 440431 GABRD NM_000815.4:c.1166G>C NP_000806.2:p.Gly389Ala NM_000815.4:c.1166G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 30, 2016 Athena Diagnostics Inc Athena Diagnostics Inc not specified;not specified 26467025 germline MedGen:CN169374 2016-11-30 1 0 +1 2030125 C T 2030125 2030125 + Variant 460007 RCV000544951 SCV000632040 447432 GABRD NM_000815.4:c.1202C>T NP_000806.2:p.Thr401Met NM_000815.4:c.1202C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 26, 2017 Invitae Invitae Idiopathic generalized epilepsy 28492532 germline Gene:1957;Genetic Alliance:Idiopathic+generalized+epilepsy/8637;MedGen:C0270850;OMIM:600669;SNOMED CT:36803009 2017-07-26 1 0 1 2228725 G A 2228725 2228725 + Variant 392772 RCV000441067 SCV000536096 364806 SKI NM_003036.3:c.-42G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 16, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-16 1 0 1 2228739 G T 2228739 2228739 + Variant 393061 RCV000425453 SCV000536418 364809 SKI NM_003036.3:c.-28G>T Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 17, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-17 1 0 1 2228748 G A 2228748 2228748 + Variant 386778 RCV000444804 SCV000528551 364818 SKI NM_003036.3:c.-19G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 07, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-06-07 1 0 1 2228777 C T 2228777 2228777 + Variant 426734 RCV000490080 SCV000577262 414765 SKI NM_003036.3:c.11C>T NP_003027.1:p.Ala4Val NM_003036.3:c.11C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 06, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-06 1 0 -1 2228825 C T 2228825 2228825 + Variant 409969 RCV000457554 SCV000550372 391048 SKI NM_003036.3:c.59C>T NP_003027.1:p.Thr20Met NM_003036.3:c.59C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 30, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-30 1 0 +1 2228825 C T 2228825 2228825 + Variant 409969 RCV000457554 SCV000550372 391048 SKI NM_003036.3:c.59C>T NP_003027.1:p.Thr20Met NM_003036.3:c.59C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 30, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-30 1 0 1 2228828 T G 2228828 2228828 + Variant 224869 RCV000210450 SCV000266527 226716 SKI NM_003036.3:c.62T>G NP_003027.1:p.Leu21Arg NM_003036.3:c.62T>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter - Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome 20301454;23023332 de novo GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 0000-00-00 1 0 1 2228860 C G 2228860 2228860 + Variant 37259 RCV000030817 SCV000266525;SCV000053492 45849 SKI NM_003036.3:c.94C>G NP_003027.1:p.Leu32Val NM_003036.3:c.94C>G:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Feb 01, 2015 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230;24736733 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01;0000-00-00 1 0 -1 2228865 C G 2228865 2228865 + Variant 139112 RCV000173298;RCV000226611 SCV000269831;SCV000224395;SCV000171637;SCV000605113;SCV000309367;SCV000287846 142815 SKI NM_003036.3:c.99C>G NP_003027.1:p.Gly33= NM_003036.3:c.99C>G:synonymous variant Benign benign 0 0 0 0 6 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Feb 15, 2017 ARUP Laboratories, Molecular Genetics and Genomics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae, GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae, not specified;Not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 24033266;25741868;20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-05-27;2015-01-13;2015-11-03;0000-00-00;2017-02-15;2017-01-25 2 0 -1 2228866 G A 2228866 2228866 + Variant 37261 RCV000030819;RCV000200686 SCV000266520;SCV000053494;SCV000250672 45851 SKI NM_003036.3:c.100G>A NP_003027.1:p.Gly34Ser NM_003036.3:c.100G>A:missense variant Pathogenic pathogenic 3 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Feb 01, 2015 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME;not provided;Not Provided 20301454;23023332;23103230;24736733 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN221809 2015-02-01;0000-00-00;2014-12-11 2 0 -1 2228866 G T 2228866 2228866 + Variant 37262 RCV000030820 SCV000053495;SCV000266522 45852 SKI NM_003036.3:c.100G>T NP_003027.1:p.Gly34Cys NM_003036.3:c.100G>T:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Nov 02, 2012 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02;0000-00-00 1 0 +1 2228865 C G 2228865 2228865 + Variant 139112 RCV000173298;RCV000226611 SCV000269831;SCV000224395;SCV000171637;SCV000605113;SCV000309367;SCV000287846 142815 SKI NM_003036.3:c.99C>G NP_003027.1:p.Gly33= NM_003036.3:c.99C>G:synonymous variant Benign benign 0 0 0 0 6 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 03, 2017 ARUP Laboratories, Molecular Genetics and Genomics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae not specified;Not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 24033266;25741868;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-05-27;2015-01-13;2015-11-03;0000-00-00;2017-02-15;2017-08-03 2 0 +1 2228866 G A 2228866 2228866 + Variant 37261 RCV000030819;RCV000200686 SCV000266520;SCV000053494;SCV000250672 45851 SKI NM_003036.3:c.100G>A NP_003027.1:p.Gly34Ser NM_003036.3:c.100G>A:missense variant Pathogenic pathogenic 3 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Feb 01, 2015 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME;not provided;Not Provided 20301454;23023332;23103230;24736733 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN517202 2015-02-01;0000-00-00;2014-12-11 2 0 +1 2228866 G T 2228866 2228866 + Variant 37262 RCV000030820 SCV000053495;SCV000266522;SCV000637271 45852 SKI NM_003036.3:c.100G>T NP_003027.1:p.Gly34Cys NM_003036.3:c.100G>T:missense variant Pathogenic pathogenic;pathogenic;pathogenic 3 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter;criteria provided, single submitter Jun 15, 2017 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;Invitae OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;Invitae Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230;28492532 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02;0000-00-00;2017-06-15 2 0 1 2228867 G A 2228867 2228867 + Variant 37260 RCV000030818 SCV000266523;SCV000053493 45850 SKI NM_003036.3:c.101G>A NP_003027.1:p.Gly34Asp NM_003036.3:c.101G>A:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Feb 01, 2015 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;24736733 de novo;unknown GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01;0000-00-00 1 0 1 2228867 G T 2228867 2228867 + Variant 39783 RCV000033005 SCV000056784 48382 SKI NM_003036.3:c.101G>T NP_003027.1:p.Gly34Val NM_003036.3:c.101G>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 01, 2015 OMIM OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23103230;24736733 unknown GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01 0 0 1 2228869 C T 2228869 2228869 + Variant 39786 RCV000033008 SCV000266524;SCV000056787 48385 SKI NM_003036.3:c.103C>T NP_003027.1:p.Pro35Ser NM_003036.3:c.103C>T:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Feb 01, 2015 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332;23103230;24736733 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-01;0000-00-00 1 0 1 2228870 C A 2228870 2228870 + Variant 39785 RCV000033007 SCV000056786 48384 SKI NM_003036.3:c.104C>A NP_003027.1:p.Pro35Gln NM_003036.3:c.104C>A:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Nov 02, 2012 OMIM OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23103230 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02 0 0 -1 2228870 C G 2228870 2228870 + Variant 409977 RCV000475694 SCV000597058;SCV000550383 390987 SKI NM_003036.3:c.104C>G NP_003027.1:p.Pro35Arg NM_003036.3:c.104C>G:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely pathogenic 0 1 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Sep 23, 2016 Invitae,;Genetic Services Laboratory, University of Chicago Invitae,;Genetic Services Laboratory, University of Chicago Shprintzen-Goldberg syndrome;Shprintzen-Goldberg syndrome 20301454;23023332;23103230;25741868 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-23;2016-09-21 1 1 +1 2228870 C G 2228870 2228870 + Variant 409977 RCV000475694 SCV000597058;SCV000550383 390987 SKI NM_003036.3:c.104C>G NP_003027.1:p.Pro35Arg NM_003036.3:c.104C>G:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely pathogenic 0 1 1 0 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Sep 23, 2016 Genetic Services Laboratory, University of Chicago;Invitae Invitae;Genetic Services Laboratory, University of Chicago Shprintzen-Goldberg syndrome;Shprintzen-Goldberg syndrome 20301454;23023332;23103230;25741868 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-23;2016-09-21 1 1 1 2228871 G A 2228871 2228871 + Variant 386838 RCV000437914 SCV000528633 364811 SKI NM_003036.3:c.105G>A NP_003027.1:p.Pro35= NM_003036.3:c.105G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 22, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-06-22 1 0 +1 2228882 C T 2228882 2228882 + Variant 463393 RCV000557750 SCV000637274 447643 SKI NM_003036.3:c.116C>T NP_003027.1:p.Ser39Leu NM_003036.3:c.116C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 23, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-23 1 0 +1 2228895 G A 2228895 2228895 + Variant 463395 RCV000551618 SCV000637279 447644 SKI NM_003036.3:c.129G>A NP_003027.1:p.Ala43= NM_003036.3:c.129G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 28, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-28 1 0 1 2228904 C T 2228904 2228904 + Variant 213665 RCV000198300 SCV000250648 209445 SKI NM_003036.3:c.138C>T NP_003027.1:p.Ala46= NM_003036.3:c.138C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jan 06, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-01-06 1 0 -1 2228908 A C 2228908 2228908 + Variant 432531 RCV000498045 SCV000590265 425338 SKI NM_003036.3:c.142A>C NP_003027.1:p.Lys48Gln NM_003036.3:c.142A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 05, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-05 1 0 +1 2228908 A C 2228908 2228908 + Variant 432531 RCV000498045;RCV000557338 SCV000590265;SCV000637280 425338 SKI NM_003036.3:c.142A>C NP_003027.1:p.Lys48Gln NM_003036.3:c.142A>C:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 06, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-05;2017-07-06 2 0 1 2228913 G A 2228913 2228913 + Variant 385331 RCV000445172 SCV000526570 364907 SKI NM_003036.3:c.147G>A NP_003027.1:p.Lys49= NM_003036.3:c.147G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 06, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-04-06 1 0 +1 2228949 G C 2228949 2228949 + Variant 463397 RCV000527350 SCV000637286 447807 SKI NM_003036.3:c.183G>C NP_003027.1:p.Pro61= NM_003036.3:c.183G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 10, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-10 1 0 1 2228951 C G 2228951 2228951 + Variant 139113 RCV000128047 SCV000269830;SCV000171638;SCV000309357;SCV000605112 142816 SKI NM_003036.3:c.185C>G NP_003027.1:p.Ala62Gly NM_003036.3:c.185C>G:missense variant Benign benign;benign;benign;benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Jun 05, 2017 ARUP Laboratories, Molecular Genetics and Genomics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics not specified;not specified;Not specified;NOT SPECIFIED 24033266;25741868 germline MedGen:CN169374 2014-05-16;2015-02-20;0000-00-00;2017-06-05 2 0 -1 2228955 G GGTGCCC 2228957 2228962 + Variant 409976 RCV000467436 SCV000550382 391069 SKI NM_003036.3:c.191_196dupTGCCCG NP_003027.1:p.Pro65_Ala66insValPro Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-11 1 0 -1 2228982 C T 2228982 2228982 + Variant 193249 RCV000204079;RCV000225703;RCV000242995 SCV000261590;SCV000224394;SCV000605120;SCV000250664;SCV000309360;SCV000319962 190413 SKI NM_003036.3:c.216C>T NP_003027.1:p.Pro72= NM_003036.3:c.216C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;uncertain significance;benign 0 0 1 4 1 criteria provided, conflicting interpretations criteria provided, single submitter May 05, 2017 Invitae,;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Ambry Genetics Invitae,;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Ambry Genetics Shprintzen-Goldberg syndrome;not specified;NOT SPECIFIED;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301454;25741868;20301299;24882528;25173340 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2016-12-19;2015-06-08;2015-03-02;0000-00-00;2017-05-05;2015-08-08 1 1 +1 2228955 G GGTGCCC 2228957 2228962 + Variant 409976 RCV000467436 SCV000550382 391069 SKI NM_003036.3:c.191_196dupTGCCCG NP_003027.1:p.Pro65_Ala66insValPro Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-11 1 0 +1 2228982 C T 2228982 2228982 + Variant 193249 RCV000204079;RCV000225703;RCV000242995 SCV000261590;SCV000224394;SCV000605120;SCV000250664;SCV000309360;SCV000319962 190413 SKI NM_003036.3:c.216C>T NP_003027.1:p.Pro72= NM_003036.3:c.216C>T:synonymous variant Conflicting interpretations of pathogenicity likely benign;uncertain significance;benign 0 0 1 4 1 criteria provided, conflicting interpretations criteria provided, single submitter May 05, 2017 Invitae;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Ambry Genetics Invitae;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Ambry Genetics Shprintzen-Goldberg syndrome;not specified;NOT SPECIFIED;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301454;28492532;25741868;20301299;24882528;25173340 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2017-04-10;2015-06-08;2015-03-02;0000-00-00;2017-05-05;2015-08-08 1 1 1 2229005 A AGCC 2229015 2229017 + Variant 264471 RCV000250462 SCV000320439 257939 SKI NM_003036.3:c.249_251dupGCC NP_003027.1:p.Pro84_Val85insPro NM_003036.3:c.249_251dupGCC:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 10, 2015 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-11-10 1 0 -1 2229014 C T 2229014 2229014 + Variant 409973 RCV000461038 SCV000550378 391061 SKI NM_003036.3:c.248C>T NP_003027.1:p.Pro83Leu NM_003036.3:c.248C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 08, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-08 1 0 +1 2229014 C T 2229014 2229014 + Variant 409973 RCV000461038 SCV000550378 391061 SKI NM_003036.3:c.248C>T NP_003027.1:p.Pro83Leu NM_003036.3:c.248C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 08, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-08 1 0 1 2229045 GTCCGACCGC G 2229049 2229057 + Variant 37263 RCV000030821 SCV000053496;SCV000266526 45853 SKI NM_003036.3:c.283_291delGACCGCTCC NP_003027.1:p.Asp95_Ser97del NM_003036.3:c.283_291delGACCGCTCC:inframe_variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Nov 01, 2012 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-01;0000-00-00 1 0 1 2229045 GTCCGACCGCTCC G 2229046 2229057 + Variant 39784 RCV000033006 SCV000056785 48383 SKI NM_003036.3:c.280_291delTCCGACCGCTCC NP_003027.1:p.Ser94_Ser97del NM_003036.3:c.280_291delTCCGACCGCTCC:inframe_variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Nov 02, 2012 OMIM OMIM Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23103230 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-02 0 0 -1 2229060 C T 2229060 2229060 + Variant 213681 RCV000198732;RCV000254475;RCV000467477 SCV000309361;SCV000319836;SCV000560924 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 20, 2017 PreventionGenetics;Ambry Genetics;Invitae, PreventionGenetics;Ambry Genetics;Invitae, not specified;NOT SPECIFIED;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections;Shprintzen-Goldberg syndrome 25741868;20301299;24882528;25173340;20301454 germline MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 0000-00-00;2015-08-11;2017-01-20 2 0 +1 2229060 C T 2229060 2229060 + Variant 213681 RCV000198732;RCV000254475;RCV000467477 SCV000309361;SCV000319836;SCV000560924 209446 SKI NM_003036.3:c.294C>T NP_003027.1:p.Thr98= NM_003036.3:c.294C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2017 PreventionGenetics;Ambry Genetics;Invitae PreventionGenetics;Ambry Genetics;Invitae not specified;NOT SPECIFIED;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections;Shprintzen-Goldberg syndrome 25741868;20301299;24882528;25173340;20301454;28492532 germline MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 0000-00-00;2015-08-11;2017-06-14 2 0 1 2229077 T C 2229077 2229077 + Variant 264417 RCV000246817 SCV000320341 257941 SKI NM_003036.3:c.311T>C NP_003027.1:p.Val104Ala NM_003036.3:c.311T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 17, 2015 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-09-17 1 0 -1 2229078 A T 2229078 2229078 + Variant 227947 RCV000215560 SCV000531770;SCV000270847 228355 SKI NM_003036.3:c.312A>T NP_003027.1:p.Val104= NM_003036.3:c.312A>T:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 21, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-08-11;2016-09-21 2 0 +1 2229078 A T 2229078 2229078 + Variant 227947 RCV000215560;RCV000543423 SCV000531770;SCV000270847;SCV000637299 228355 SKI NM_003036.3:c.312A>T NP_003027.1:p.Val104= NM_003036.3:c.312A>T:synonymous variant Likely benign likely benign 0 0 0 3 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 18, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Shprintzen-Goldberg syndrome 24033266;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-08-11;2016-09-21;2017-04-18 2 0 1 2229108 G T 2229108 2229108 + Variant 390742 RCV000418308 SCV000533655 364910 SKI NM_003036.3:c.342G>T NP_003027.1:p.Val114= NM_003036.3:c.342G>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 16, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-16 1 0 1 2229113 G A 2229113 2229113 + Variant 37258 RCV000030816 SCV000266519;SCV000053491 45848 SKI NM_003036.3:c.347G>A NP_003027.1:p.Gly116Glu NM_003036.3:c.347G>A:missense variant Pathogenic pathogenic;pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter Nov 01, 2012 OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University OMIM;Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University Shprintzen-Goldberg syndrome;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 20301454;23023332 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2012-11-01;0000-00-00 1 0 -1 2229115 G C 2229115 2229115 + Variant 224868 RCV000210472;RCV000498943 SCV000266521;SCV000589671 226717 SKI NM_003036.3:c.349G>C NP_003027.1:p.Gly117Arg NM_003036.3:c.349G>C:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 1 1 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 02, 2017 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx Shprintzen-Goldberg syndrome;not provided;Not Provided 20301454;23023332 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN221809 0000-00-00;2017-06-02 2 0 +1 2229115 G C 2229115 2229115 + Variant 224868 RCV000210472;RCV000498943 SCV000266521;SCV000589671 226717 SKI NM_003036.3:c.349G>C NP_003027.1:p.Gly117Arg NM_003036.3:c.349G>C:missense variant Pathogenic/Likely pathogenic pathogenic;likely pathogenic 1 1 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 02, 2017 Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University;GeneDx Shprintzen-Goldberg syndrome;not provided;Not Provided 20301454;23023332 de novo;germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN517202 0000-00-00;2017-06-02 2 0 1 2229118 G A 2229118 2229118 + Variant 222819 RCV000208203 SCV000264224 224190 SKI NM_003036.3:c.352G>A NP_003027.1:p.Glu118Lys NM_003036.3:c.352G>A:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Oct 22, 2015 Blueprint Genetics Blueprint Genetics Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-10-22 1 0 -1 2229126 C T 2229126 2229126 + Variant 213682 RCV000200253;RCV000461600 SCV000250666;SCV000605119;SCV000560926 209448 SKI NM_003036.3:c.360C>T NP_003027.1:p.Arg120= NM_003036.3:c.360C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 16, 2017 ARUP Laboratories, Molecular Genetics and Genomics;GeneDx;Invitae, GeneDx;ARUP Laboratories, Molecular Genetics and Genomics;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-05-06;2017-03-16;2016-12-08 2 0 +1 2229126 C T 2229126 2229126 + Variant 213682 RCV000200253;RCV000461600 SCV000250666;SCV000605119;SCV000560926 209448 SKI NM_003036.3:c.360C>T NP_003027.1:p.Arg120= NM_003036.3:c.360C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 03, 2017 ARUP Laboratories, Molecular Genetics and Genomics;GeneDx;Invitae GeneDx;ARUP Laboratories, Molecular Genetics and Genomics;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-05-06;2017-03-16;2017-05-03 2 0 1 2229159 G A 2229159 2229159 + Variant 264423 RCV000254423 SCV000320354 257943 SKI NM_003036.3:c.393G>A NP_003027.1:p.Leu131= NM_003036.3:c.393G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 04, 2015 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-10-04 1 0 -1 2229183 C T 2229183 2229183 + Variant 213683 RCV000196335;RCV000234780 SCV000250667;SCV000309362;SCV000287840 209449 SKI NM_003036.3:c.417C>T NP_003027.1:p.Ile139= NM_003036.3:c.417C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 08, 2016 PreventionGenetics;GeneDx;Invitae, GeneDx;PreventionGenetics;Invitae, not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-12-02;0000-00-00;2016-10-08 2 0 +1 2229165 C T 2229165 2229165 + Variant 463408 RCV000557967 SCV000637300 447808 SKI NM_003036.3:c.399C>T NP_003027.1:p.Asp133= NM_003036.3:c.399C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 07, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-07 1 0 +1 2229183 C T 2229183 2229183 + Variant 213683 RCV000196335;RCV000234780 SCV000250667;SCV000309362;SCV000287840 209449 SKI NM_003036.3:c.417C>T NP_003027.1:p.Ile139= NM_003036.3:c.417C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 27, 2017 PreventionGenetics;GeneDx;Invitae GeneDx;PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-12-02;0000-00-00;2017-06-27 2 0 1 2229201 G GCTC 2229202 2229203 + Variant 440270 RCV000506250 SCV000605118 433916 SKI NM_003036.3:c.436_437insCTC NP_003027.1:p.Glu145_Leu146insPro Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 15, 2017 ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories, Molecular Genetics and Genomics not specified germline MedGen:CN169374 2017-03-15 1 0 -1 2229222 C T 2229222 2229222 + Variant 139111 RCV000128045;RCV000228536;RCV000245385 SCV000171636;SCV000309363;SCV000287841;SCV000319402 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 25, 2017 PreventionGenetics;GeneDx;Invitae,;Ambry Genetics GeneDx;PreventionGenetics;Invitae,;Ambry Genetics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 25741868;20301454;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-19;0000-00-00;2017-01-25;2015-02-05 2 0 -1 2229230 C G 2229230 2229230 + Variant 373594 RCV000413541;RCV000461900 SCV000492202;SCV000550384 359313 SKI NM_003036.3:c.464C>G NP_003027.1:p.Ala155Gly NM_003036.3:c.464C>G:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 29, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-29;2016-05-22 2 0 -1 2229237 G A 2229237 2229237 + Variant 239478 RCV000232451;RCV000247169 SCV000287842;SCV000309364 238211 SKI NM_003036.3:c.471G>A NP_003027.1:p.Gln157= NM_003036.3:c.471G>A:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 27, 2016 Invitae,;PreventionGenetics Invitae,;PreventionGenetics Shprintzen-Goldberg syndrome;not specified;NOT SPECIFIED 20301454;25741868 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN169374 2016-03-27;0000-00-00 2 0 -1 2229253 G A 2229253 2229253 + Variant 239479 RCV000234052 SCV000287843 238212 SKI NM_003036.3:c.487G>A NP_003027.1:p.Val163Ile NM_003036.3:c.487G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 12, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-01-12 1 0 +1 2229222 C T 2229222 2229222 + Variant 139111 RCV000128045;RCV000228536;RCV000245385 SCV000171636;SCV000309363;SCV000287841;SCV000319402 142814 SKI NM_003036.3:c.456C>T NP_003027.1:p.Arg152= NM_003036.3:c.456C>T:synonymous variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 26, 2017 PreventionGenetics;GeneDx;Invitae;Ambry Genetics GeneDx;PreventionGenetics;Invitae;Ambry Genetics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 25741868;20301454;28492532;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-19;0000-00-00;2017-07-26;2015-02-05 2 0 +1 2229230 C G 2229230 2229230 + Variant 373594 RCV000413541;RCV000461900 SCV000492202;SCV000550384 359313 SKI NM_003036.3:c.464C>G NP_003027.1:p.Ala155Gly NM_003036.3:c.464C>G:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 24, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-29;2017-04-24 2 0 +1 2229237 G A 2229237 2229237 + Variant 239478 RCV000232451;RCV000247169 SCV000287842;SCV000309364 238211 SKI NM_003036.3:c.471G>A NP_003027.1:p.Gln157= NM_003036.3:c.471G>A:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 27, 2016 Invitae;PreventionGenetics Invitae;PreventionGenetics Shprintzen-Goldberg syndrome;not specified;NOT SPECIFIED 20301454;25741868 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN169374 2016-03-27;0000-00-00 2 0 +1 2229253 G A 2229253 2229253 + Variant 239479 RCV000234052 SCV000287843 238212 SKI NM_003036.3:c.487G>A NP_003027.1:p.Val163Ile NM_003036.3:c.487G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 12, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-01-12 1 0 1 2229261 C T 2229261 2229261 + Variant 258901 RCV000250311 SCV000309365 249732 SKI NM_003036.3:c.495C>T NP_003027.1:p.Gly165= NM_003036.3:c.495C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 2229265 CT GG 2229265 2229266 + Variant 213703 RCV000200337 SCV000250689 209450 SKI NM_003036.3:c.499_500delCTinsGG NP_003027.1:p.Leu167Gly NM_003036.3:c.499_500delCTinsGG:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Aug 08, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-08-08 1 0 +1 2229265 CT GG 2229265 2229266 + Variant 213703 RCV000200337 SCV000250689 209450 SKI NM_003036.3:c.499_500delCTinsGG NP_003027.1:p.Leu167Gly NM_003036.3:c.499_500delCTinsGG:missense variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Aug 08, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-08-08 1 0 +1 2229277 G A 2229277 2229277 + Variant 450852 RCV000519513 SCV000619474 442725 SKI NM_003036.3:c.511G>A NP_003027.1:p.Ala171Thr NM_003036.3:c.511G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 25, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-07-25 1 0 1 2229305 C T 2229305 2229305 + Variant 213684 RCV000198523 SCV000250668 209451 SKI NM_003036.3:c.539C>T NP_003027.1:p.Thr180Met NM_003036.3:c.539C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 07, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-04-07 1 0 1 2229391 C A 2229391 2229391 + Variant 264172 RCV000242214 SCV000319905 257942 SKI NM_003036.3:c.625C>A NP_003027.1:p.Leu209Met NM_003036.3:c.625C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 24, 2015 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-07-24 1 0 -1 2229406 A G 2229406 2229406 + Variant 213685 RCV000200824 SCV000250669 209452 SKI NM_003036.3:c.640A>G NP_003027.1:p.Ser214Gly NM_003036.3:c.640A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-21 1 0 +1 2229406 A G 2229406 2229406 + Variant 213685 RCV000200824;RCV000551275 SCV000250669;SCV000637302 209452 SKI NM_003036.3:c.640A>G NP_003027.1:p.Ser214Gly NM_003036.3:c.640A>G:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 08, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-07-21;2017-03-08 2 0 1 2229468 C G 2229468 2229468 + Variant 388701 RCV000441081 SCV000531061 364813 SKI NM_003036.3:c.702C>G NP_003027.1:p.Pro234= NM_003036.3:c.702C>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 17, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-08-17 1 0 1 2229492 C T 2229492 2229492 + Variant 381375 RCV000438601 SCV000520593 364674 SKI NM_003036.3:c.726C>T NP_003027.1:p.Ala242= NM_003036.3:c.726C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 05, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-11-05 1 0 1 2229502 C T 2229502 2229502 + Variant 424243 RCV000484316 SCV000574033 405059 SKI NM_003036.3:c.736C>T NP_003027.1:p.Gln246Ter NM_003036.3:c.736C>T:nonsense Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 13, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-13 1 0 1 2229534 G A 2229534 2229534 + Variant 381998 RCV000435128 SCV000521746 364823 SKI NM_003036.3:c.768G>A NP_003027.1:p.Pro256= NM_003036.3:c.768G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 02, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-12-02 1 0 -1 2229564 C T 2229564 2229564 + Variant 193248 RCV000225717;RCV000243648;RCV000465929 SCV000250645;SCV000309366;SCV000224393;SCV000319450;SCV000560938 190412 SKI NM_003036.3:c.798C>T NP_003027.1:p.Ala266= NM_003036.3:c.798C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;benign;likely benign 0 0 1 2 2 criteria provided, conflicting interpretations criteria provided, single submitter Jun 13, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Ambry Genetics;Invitae, EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;PreventionGenetics;Ambry Genetics;Invitae, not specified;NOT SPECIFIED;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections;Shprintzen-Goldberg syndrome 25741868;20301299;24882528;25173340;20301454 germline MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-12-19;2014-09-04;0000-00-00;2015-03-06;2016-06-13 1 1 -1 2229565 C T 2229565 2229565 + Variant 213663 RCV000200723;RCV000228953 SCV000250646;SCV000287844 209453 SKI NM_003036.3:c.799C>T NP_003027.1:p.Leu267= NM_003036.3:c.799C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 26, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-05-18;2016-09-26 2 0 +1 2229564 C T 2229564 2229564 + Variant 193248 RCV000225717;RCV000243648;RCV000465929 SCV000250645;SCV000309366;SCV000224393;SCV000319450;SCV000560938 190412 SKI NM_003036.3:c.798C>T NP_003027.1:p.Ala266= NM_003036.3:c.798C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;benign;likely benign 0 0 1 2 2 criteria provided, conflicting interpretations criteria provided, single submitter Apr 03, 2017 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Ambry Genetics;Invitae EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;PreventionGenetics;Ambry Genetics;Invitae not specified;NOT SPECIFIED;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections;Shprintzen-Goldberg syndrome 25741868;20301299;24882528;25173340;20301454;28492532 germline MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-12-19;2014-09-04;0000-00-00;2015-03-06;2017-04-03 1 1 +1 2229565 C T 2229565 2229565 + Variant 213663 RCV000200723;RCV000228953 SCV000250646;SCV000287844 209453 SKI NM_003036.3:c.799C>T NP_003027.1:p.Leu267= NM_003036.3:c.799C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 02, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-05-18;2017-05-02 2 0 1 2229610 C A 2229610 2229610 + Variant 264492 RCV000251439 SCV000320468 257944 SKI NM_003036.3:c.844C>A NP_003027.1:p.Arg282= NM_003036.3:c.844C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 06, 2015 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-11-06 1 0 1 2229611 G A 2229611 2229611 + Variant 393089 RCV000421845 SCV000536449 364679 SKI NM_003036.3:c.845G>A NP_003027.1:p.Arg282Gln NM_003036.3:c.845G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 20, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-20 1 0 1 2229659 C G 2229659 2229659 + Variant 436729 RCV000502689 SCV000597059 427715 SKI NM_003036.3:c.893C>G NP_003027.1:p.Ala298Gly NM_003036.3:c.893C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 24, 2016 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2016-06-24 1 0 -1 2229663 C T 2229663 2229663 + Variant 380753 RCV000417582;RCV000458602 SCV000519151;SCV000560931 364819 SKI NM_003036.3:c.897C>T NP_003027.1:p.Arg299= NM_003036.3:c.897C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 14, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-14;2016-04-18 2 0 +1 2229663 C T 2229663 2229663 + Variant 380753 RCV000417582;RCV000458602 SCV000519151;SCV000560931 364819 SKI NM_003036.3:c.897C>T NP_003027.1:p.Arg299= NM_003036.3:c.897C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 14, 2016 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-14;2016-04-18 2 0 1 2229672 C T 2229672 2229672 + Variant 389154 RCV000442843 SCV000531605 364915 SKI NM_003036.3:c.906C>T NP_003027.1:p.Arg302= NM_003036.3:c.906C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 07, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-07 1 0 1 2229685 G A 2229685 2229685 + Variant 213686 RCV000196881 SCV000250670 209454 SKI NM_003036.3:c.919G>A NP_003027.1:p.Val307Met NM_003036.3:c.919G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 17, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-04-17 1 0 1 2229704 A G 2229704 2229704 + Variant 213687 RCV000199076 SCV000250671 209455 SKI NM_003036.3:c.938A>G NP_003027.1:p.Tyr313Cys NM_003036.3:c.938A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 02, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-03-02 1 0 -1 2229714 G A 2229714 2229714 + Variant 213664 RCV000196098;RCV000231718 SCV000250647;SCV000287845 209456 SKI NM_003036.3:c.948G>A NP_003027.1:p.Lys316= NM_003036.3:c.948G>A:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 01, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-08-02;2016-07-01 2 0 +1 2229714 G A 2229714 2229714 + Variant 213664 RCV000196098;RCV000231718 SCV000250647;SCV000287845 209456 SKI NM_003036.3:c.948G>A NP_003027.1:p.Lys316= NM_003036.3:c.948G>A:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 01, 2016 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-08-02;2016-07-01 2 0 1 2229730 C T 2229730 2229730 + Variant 264199 RCV000252076 SCV000319953 257945 SKI NM_003036.3:c.964C>T NP_003027.1:p.Pro322Ser NM_003036.3:c.964C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 14, 2015 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-08-14 1 0 1 2302971 A G 2302971 2302971 + Variant 289941 RCV000284270 SCV000344401;SCV000531468 274178 SKI NM_003036.3:c.970-7A>G NM_003036.3:c.970-7A>G:intron variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Sep 02, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx not specified;not specified;not specified germline MedGen:CN169374 2016-08-26;2016-09-02 1 1 -1 2303008 C T 2303008 2303008 + Variant 213688 RCV000198950 SCV000250674 209457 SKI NM_003036.3:c.1000C>T NP_003027.1:p.Pro334Ser NM_003036.3:c.1000C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 29, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-05-29 1 0 +1 2303008 C T 2303008 2303008 + Variant 213688 RCV000198950;RCV000539809 SCV000250674;SCV000637270 209457 SKI NM_003036.3:c.1000C>T NP_003027.1:p.Pro334Ser NM_003036.3:c.1000C>T:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 27, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-05-29;2017-03-27 2 0 1 2303013 A G 2303013 2303013 + Variant 392801 RCV000420643 SCV000536128 364935 SKI NM_003036.3:c.1005A>G NP_003027.1:p.Lys335= NM_003036.3:c.1005A>G:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 17, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-17 1 0 -1 2303041 G A 2303041 2303041 + Variant 213666 RCV000200606;RCV000474882 SCV000250649;SCV000550374 209458 SKI NM_003036.3:c.1033G>A NP_003027.1:p.Ala345Thr NM_003036.3:c.1033G>A:missense variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 28, 2017 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-28;2016-11-18 1 1 +1 2303041 G A 2303041 2303041 + Variant 213666 RCV000200606;RCV000474882 SCV000250649;SCV000550374 209458 SKI NM_003036.3:c.1033G>A NP_003027.1:p.Ala345Thr NM_003036.3:c.1033G>A:missense variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 28, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-28;2017-04-12 1 1 1 2303045 CT C 2303047 2303047 + Variant 432707 RCV000498739 SCV000590461 425341 SKI NM_003036.3:c.1039delT NP_003027.1:p.Ser347Profs NM_003036.3:c.1039delT:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 12, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-12 1 0 1 2303049 C T 2303049 2303049 + Variant 384269 RCV000417667 SCV000524999 364878 SKI NM_003036.3:c.1041C>T NP_003027.1:p.Ser347= NM_003036.3:c.1041C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 26, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-02-26 1 0 1 2303076 G A 2303076 2303076 + Variant 389348 RCV000436780 SCV000531839 364937 SKI NM_003036.3:c.1068G>A NP_003027.1:p.Leu356= NM_003036.3:c.1068G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 13, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-13 1 0 -1 2303078 G A 2303078 2303078 + Variant 213689 RCV000195711 SCV000250675 209459 SKI NM_003036.3:c.1070G>A NP_003027.1:p.Arg357Gln NM_003036.3:c.1070G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 24, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-24 1 0 +1 2303077 C T 2303077 2303077 + Variant 463392 RCV000532859 SCV000637272 447787 SKI NM_003036.3:c.1069C>T NP_003027.1:p.Arg357Trp NM_003036.3:c.1069C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 30, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-30 1 0 +1 2303078 G A 2303078 2303078 + Variant 213689 RCV000195711;RCV000542904 SCV000250675;SCV000637273 209459 SKI NM_003036.3:c.1070G>A NP_003027.1:p.Arg357Gln NM_003036.3:c.1070G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 24, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-24;2017-03-26 2 0 1 2303089 G A 2303089 2303089 + Variant 222820 RCV000208423 SCV000264225 224191 SKI NM_003036.3:c.1081G>A NP_003027.1:p.Gly361Ser NM_003036.3:c.1081G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 01, 2015 Blueprint Genetics Blueprint Genetics not specified;not specified germline MedGen:CN169374 2015-07-01 1 0 1 2303279 C T 2303279 2303279 + Variant 390923 RCV000443858 SCV000533875 364886 SKI NM_003036.3:c.1096-6C>T NM_003036.3:c.1096-6C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 28, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-28 1 0 -1 2303306 C T 2303306 2303306 + Variant 409970 RCV000465525 SCV000550373 391067 SKI NM_003036.3:c.1117C>T NP_003027.1:p.Arg373Cys NM_003036.3:c.1117C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 16, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-16 1 0 -1 2303313 G A 2303313 2303313 + Variant 444150 RCV000513628 SCV000608451 437790 SKI NM_003036.3:c.1124G>A NP_003027.1:p.Arg375His NM_003036.3:c.1124G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 30, 2017 Praxis fuer Humangenetik Tuebingen, Praxis fuer Humangenetik Tuebingen, not provided germline MedGen:CN221809;MedGen:CN517202 2017-06-30 1 0 +1 2303287 C G 2303287 2303287 + Variant 451982 RCV000522318 SCV000620752 442734 SKI NM_003036.3:c.1098C>G NP_003027.1:p.Ser366Arg NM_003036.3:c.1098C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 22, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-09-22 1 0 +1 2303298 T C 2303298 2303298 + Variant 449711 RCV000522336 SCV000618067 442735 SKI NM_003036.3:c.1109T>C NP_003027.1:p.Val370Ala NM_003036.3:c.1109T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-26 1 0 +1 2303306 C T 2303306 2303306 + Variant 409970 RCV000465525 SCV000550373 391067 SKI NM_003036.3:c.1117C>T NP_003027.1:p.Arg373Cys NM_003036.3:c.1117C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 16, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-16 1 0 +1 2303313 G A 2303313 2303313 + Variant 444150 RCV000513628 SCV000608451 437790 SKI NM_003036.3:c.1124G>A NP_003027.1:p.Arg375His NM_003036.3:c.1124G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 30, 2017 Praxis fuer Humangenetik Tuebingen Praxis fuer Humangenetik Tuebingen not provided germline MedGen:CN221809;MedGen:CN517202 2017-06-30 1 0 1 2303328 G A 2303328 2303328 + Variant 213690 RCV000197996 SCV000250676 209461 SKI NM_003036.3:c.1139G>A NP_003027.1:p.Arg380Gln NM_003036.3:c.1139G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 16, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-06-16 1 0 1 2303351 G A 2303351 2303351 + Variant 213667 RCV000197343 SCV000250650 209462 SKI NM_003036.3:c.1162G>A NP_003027.1:p.Ala388Thr NM_003036.3:c.1162G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 29, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-12-29 1 0 -1 2303352 C T 2303352 2303352 + Variant 213668 RCV000198871;RCV000204037;RCV000436746 SCV000605116;SCV000250651;SCV000309348;SCV000261993;SCV000511006 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 26, 2017 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;GeneDx;Invitae,;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics GeneDx;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae,;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;not provided 25741868;20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN221809 2016-08-19;0000-00-00;2016-05-08;2016-12-29;2017-01-26-06:00 2 0 -1 2303353 G A 2303353 2303353 + Variant 415896 RCV000463122 SCV000560929 391070 SKI NM_003036.3:c.1164G>A NP_003027.1:p.Ala388= NM_003036.3:c.1164G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 13, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-13 1 0 +1 2303352 C T 2303352 2303352 + Variant 213668 RCV000198871;RCV000204037;RCV000436746 SCV000605116;SCV000250651;SCV000309348;SCV000261993;SCV000511006 209463 SKI NM_003036.3:c.1163C>T NP_003027.1:p.Ala388Val NM_003036.3:c.1163C>T:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 20, 2017 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;GeneDx;Invitae;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics GeneDx;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;not provided 25741868;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN517202 2016-08-19;0000-00-00;2016-05-08;2017-07-20;2017-01-26 2 0 +1 2303353 G A 2303353 2303353 + Variant 415896 RCV000463122 SCV000560929 391070 SKI NM_003036.3:c.1164G>A NP_003027.1:p.Ala388= NM_003036.3:c.1164G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 13, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-06-13 1 0 1 2303372 C T 2303372 2303372 + Variant 213691 RCV000198841 SCV000250677 209464 SKI NM_003036.3:c.1183C>T NP_003027.1:p.Pro395Ser NM_003036.3:c.1183C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 02, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-03-02 1 0 1 2303377 C T 2303377 2303377 + Variant 392508 RCV000422024 SCV000535788 364903 SKI NM_003036.3:c.1188C>T NP_003027.1:p.His396= NM_003036.3:c.1188C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 11, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-11 1 0 -1 2303385 C T 2303385 2303385 + Variant 213692 RCV000195594;RCV000227742 SCV000309349;SCV000250678;SCV000287832 209465 SKI NM_003036.3:c.1196C>T NP_003027.1:p.Ala399Val NM_003036.3:c.1196C>T:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 2 0 criteria provided, conflicting interpretations criteria provided, single submitter May 04, 2017 PreventionGenetics;GeneDx;Invitae, GeneDx;PreventionGenetics;Invitae, not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-24;0000-00-00;2016-05-05 1 1 +1 2303378 C T 2303378 2303378 + Variant 463394 RCV000531370 SCV000637275 447833 SKI NM_003036.3:c.1189C>T NP_003027.1:p.Leu397Phe NM_003036.3:c.1189C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-01 1 0 +1 2303385 C T 2303385 2303385 + Variant 213692 RCV000195594;RCV000227742;RCV000514089 SCV000309349;SCV000250678;SCV000678208;SCV000287832;SCV000609855 209465 SKI NM_003036.3:c.1196C>T NP_003027.1:p.Ala399Val NM_003036.3:c.1196C>T:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 2 3 0 criteria provided, conflicting interpretations criteria provided, single submitter Aug 01, 2017 PreventionGenetics;GeneDx;Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago;Invitae;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics GeneDx;PreventionGenetics;Invitae;Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;not provided 25741868;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN517202 2016-08-24;0000-00-00;2017-06-29;2017-08-01;2017-05-04 1 1 1 2303386 C A 2303386 2303386 + Variant 386213 RCV000438909 SCV000527766 364718 SKI NM_003036.3:c.1197C>A NP_003027.1:p.Ala399= NM_003036.3:c.1197C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 18, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-18 1 0 -1 2303394 G A 2303394 2303394 + Variant 409972 RCV000466620 SCV000550376 390988 SKI NM_003036.3:c.1205G>A NP_003027.1:p.Arg402Gln NM_003036.3:c.1205G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 03, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-03 1 0 -1 2303410 C T 2303410 2303410 + Variant 213669 RCV000200400;RCV000470601 SCV000250652;SCV000560930 209466 SKI NM_003036.3:c.1211+10C>T NM_003036.3:c.1211+10C>T:intron variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 05, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-04;2016-09-05 2 0 +1 2303394 G A 2303394 2303394 + Variant 409972 RCV000466620 SCV000550376 390988 SKI NM_003036.3:c.1205G>A NP_003027.1:p.Arg402Gln NM_003036.3:c.1205G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 03, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-08-03 1 0 +1 2303410 C T 2303410 2303410 + Variant 213669 RCV000200400;RCV000470601 SCV000250652;SCV000560930 209466 SKI NM_003036.3:c.1211+10C>T NM_003036.3:c.1211+10C>T:intron variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 03, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-02-04;2017-03-03 2 0 1 2303411 G A 2303411 2303411 + Variant 213670 RCV000197227 SCV000250653 209467 SKI NM_003036.3:c.1211+11G>A NM_003036.3:c.1211+11G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Aug 08, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-08-08 1 0 1 2303417 C T 2303417 2303417 + Variant 258899 RCV000248676 SCV000309350 249763 SKI NM_003036.3:c.1211+17C>T NM_003036.3:c.1211+17C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 2303419 C T 2303419 2303419 + Variant 258900 RCV000251824 SCV000309351;SCV000514629 249764 SKI NM_003036.3:c.1211+19C>T NM_003036.3:c.1211+19C>T:intron variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Dec 06, 2016 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2016-12-06 2 0 -1 2303832 C T 2303832 2303832 + Variant 213671 RCV000199440;RCV000415889 SCV000309352;SCV000250654;SCV000493144 209468 SKI NM_003036.3:c.1212-8C>T NM_003036.3:c.1212-8C>T:intron variant Conflicting interpretations of pathogenicity benign;likely benign;uncertain significance 0 0 1 1 1 criteria provided, conflicting interpretations criteria provided, single submitter Aug 31, 2016 PreventionGenetics;GeneDx;Praxis fuer Humangenetik Tuebingen, GeneDx;PreventionGenetics;Praxis fuer Humangenetik Tuebingen, not specified;NOT SPECIFIED;not provided 25741868 germline MedGen:CN169374;MedGen:CN221809;MedGen:CN517202 2015-04-15;0000-00-00;2016-08-31 1 1 +1 2303419 C T 2303419 2303419 + Variant 258900 RCV000251824 SCV000309351;SCV000514629 249764 SKI NM_003036.3:c.1211+19C>T NM_003036.3:c.1211+19C>T:intron variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Jul 08, 2017 PreventionGenetics;GeneDx PreventionGenetics;GeneDx not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2017-07-08 2 0 +1 2303832 C T 2303832 2303832 + Variant 213671 RCV000199440;RCV000415889;RCV000546304 SCV000309352;SCV000250654;SCV000493144;SCV000637276 209468 SKI NM_003036.3:c.1212-8C>T NM_003036.3:c.1212-8C>T:intron variant Conflicting interpretations of pathogenicity benign;likely benign;uncertain significance 0 0 1 2 1 criteria provided, conflicting interpretations criteria provided, single submitter May 15, 2017 PreventionGenetics;GeneDx;Praxis fuer Humangenetik Tuebingen;Invitae GeneDx;PreventionGenetics;Praxis fuer Humangenetik Tuebingen;Invitae not specified;NOT SPECIFIED;not provided;Shprintzen-Goldberg syndrome 25741868;20301454;28492532 germline MedGen:CN169374;MedGen:CN221809;MedGen:CN517202;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-04-15;0000-00-00;2016-08-31;2017-05-15 1 1 1 2303871 G A 2303871 2303871 + Variant 222821 RCV000208100 SCV000264226 224192 SKI NM_003036.3:c.1243G>A NP_003027.1:p.Val415Met NM_003036.3:c.1243G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 01, 2015 Blueprint Genetics Blueprint Genetics Marfanoid habitus germline MedGen:C1839796 2015-04-01 1 0 1 2303875 C T 2303875 2303875 + Variant 213693 RCV000197794 SCV000250679 209469 SKI NM_003036.3:c.1247C>T NP_003027.1:p.Ala416Val NM_003036.3:c.1247C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 02, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-02 1 0 -1 2303882 C T 2303882 2303882 + Variant 392009 RCV000441456 SCV000535200 364908 SKI NM_003036.3:c.1254C>T NP_003027.1:p.Asn418= NM_003036.3:c.1254C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-21 1 0 -1 2303886 G A 2303886 2303886 + Variant 220793 RCV000205977;RCV000507645 SCV000261638;SCV000605111 221089 SKI NM_003036.3:c.1258G>A NP_003027.1:p.Ala420Thr NM_003036.3:c.1258G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 13, 2016 Invitae,;ARUP Laboratories, Molecular Genetics and Genomics Invitae,;ARUP Laboratories, Molecular Genetics and Genomics Shprintzen-Goldberg syndrome;not specified 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN169374 2015-10-28;2016-09-13 2 0 +1 2303882 C T 2303882 2303882 + Variant 392009 RCV000441456;RCV000558563 SCV000535200;SCV000637277 364908 SKI NM_003036.3:c.1254C>T NP_003027.1:p.Asn418= NM_003036.3:c.1254C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 20, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-21;2017-01-20 2 0 +1 2303886 G A 2303886 2303886 + Variant 220793 RCV000205977;RCV000507645 SCV000261638;SCV000605111 221089 SKI NM_003036.3:c.1258G>A NP_003027.1:p.Ala420Thr NM_003036.3:c.1258G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 28, 2017 Invitae;ARUP Laboratories, Molecular Genetics and Genomics Invitae;ARUP Laboratories, Molecular Genetics and Genomics Shprintzen-Goldberg syndrome;not specified 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN169374 2017-03-28;2016-09-13 2 0 1 2303891 C T 2303891 2303891 + Variant 263904 RCV000252813 SCV000319412 257947 SKI NM_003036.3:c.1263C>T NP_003027.1:p.Leu421= NM_003036.3:c.1263C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 04, 2015 Ambry Genetics Ambry Genetics Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301299;24882528;25173340 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2015-02-04 1 0 -1 2303892 G A 2303892 2303892 + Variant 213707 RCV000196970 SCV000250693 209470 SKI NM_003036.3:c.1264G>A NP_003027.1:p.Ala422Thr NM_003036.3:c.1264G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 20, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-10-20 1 0 +1 2303892 G A 2303892 2303892 + Variant 213707 RCV000196970 SCV000250693 209470 SKI NM_003036.3:c.1264G>A NP_003027.1:p.Ala422Thr NM_003036.3:c.1264G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-11 1 0 1 2303897 G A 2303897 2303897 + Variant 387432 RCV000431107 SCV000529477 364724 SKI NM_003036.3:c.1269G>A NP_003027.1:p.Pro423= NM_003036.3:c.1269G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 12, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-07-12 1 0 -1 2303899 C T 2303899 2303899 + Variant 423663 RCV000486959 SCV000573384 405082 SKI NM_003036.3:c.1271C>T NP_003027.1:p.Pro424Leu NM_003036.3:c.1271C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 23, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-23 1 0 +1 2303899 C T 2303899 2303899 + Variant 423663 RCV000486959;RCV000537023 SCV000573384;SCV000637278 405082 SKI NM_003036.3:c.1271C>T NP_003027.1:p.Pro424Leu NM_003036.3:c.1271C>T:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 13, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-02-23;2017-03-13 2 0 +1 2303922 A G 2303922 2303922 + Variant 449989 RCV000521311 SCV000618510 442736 SKI NM_003036.3:c.1294A>G NP_003027.1:p.Ser432Gly NM_003036.3:c.1294A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-01 1 0 1 2303929 C T 2303929 2303929 + Variant 213694 RCV000200090 SCV000250680 209471 SKI NM_003036.3:c.1301C>T NP_003027.1:p.Pro434Leu NM_003036.3:c.1301C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 09, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-03-09 1 0 -1 2303937 G A 2303937 2303937 + Variant 263895 RCV000251995;RCV000474123 SCV000319389;SCV000550377 257946 SKI NM_003036.3:c.1309G>A NP_003027.1:p.Ala437Thr NM_003036.3:c.1309G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 11, 2016 Ambry Genetics;Invitae, Ambry Genetics;Invitae, Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections;Shprintzen-Goldberg syndrome 20301299;24882528;25173340;20301454 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-10-29;2016-12-11 2 0 -1 2303939 C G 2303939 2303939 + Variant 227946 RCV000221218;RCV000462719 SCV000514630;SCV000270846;SCV000560932 228357 SKI NM_003036.3:c.1311C>G NP_003027.1:p.Ala437= NM_003036.3:c.1311C>G:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 09, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Shprintzen-Goldberg syndrome 24033266;20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-08-11;2016-09-21;2016-10-09 2 0 -1 2303939 C T 2303939 2303939 + Variant 139114 RCV000128048;RCV000229389;RCV000249261 SCV000309353;SCV000605110;SCV000171639;SCV000336133;SCV000287833;SCV000319411 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign benign 0 0 0 0 6 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 10, 2017 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae,;Ambry Genetics GeneDx;PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae,;Ambry Genetics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 25741868;20301454;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-27;0000-00-00;2015-10-14;2016-01-06;2017-01-10;2015-02-06 2 0 -1 2303943 G A 2303943 2303943 + Variant 409971 RCV000457275 SCV000550375 391083 SKI NM_003036.3:c.1315G>A NP_003027.1:p.Val439Ile NM_003036.3:c.1315G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 08, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-08 1 0 +1 2303937 G A 2303937 2303937 + Variant 263895 RCV000251995;RCV000474123;RCV000520591 SCV000319389;SCV000550377;SCV000620001 257946 SKI NM_003036.3:c.1309G>A NP_003027.1:p.Ala437Thr NM_003036.3:c.1309G>A:missense variant Uncertain significance uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 11, 2017 Ambry Genetics;Invitae;GeneDx Ambry Genetics;Invitae;GeneDx Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections;Shprintzen-Goldberg syndrome;not specified 20301299;24882528;25173340;20301454;28492532 germline CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;MedGen:CN169374 2015-10-29;2017-02-17;2017-08-11 2 0 +1 2303939 C G 2303939 2303939 + Variant 227946 RCV000221218;RCV000462719 SCV000514630;SCV000270846;SCV000560932 228357 SKI NM_003036.3:c.1311C>G NP_003027.1:p.Ala437= NM_003036.3:c.1311C>G:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 15, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Shprintzen-Goldberg syndrome 24033266;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-08-11;2017-08-15;2017-05-30 2 0 +1 2303939 C T 2303939 2303939 + Variant 139114 RCV000128048;RCV000229389;RCV000249261 SCV000309353;SCV000605110;SCV000171639;SCV000336133;SCV000287833;SCV000319411 142817 SKI NM_003036.3:c.1311C>T NP_003027.1:p.Ala437= NM_003036.3:c.1311C>T:synonymous variant Benign benign 0 0 0 0 6 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 26, 2017 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae;Ambry Genetics GeneDx;PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae;Ambry Genetics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 25741868;20301454;28492532;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-27;0000-00-00;2015-10-14;2016-01-06;2017-07-26;2015-02-06 2 0 +1 2303943 G A 2303943 2303943 + Variant 409971 RCV000457275 SCV000550375 391083 SKI NM_003036.3:c.1315G>A NP_003027.1:p.Val439Ile NM_003036.3:c.1315G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 08, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-08 1 0 1 2303957 C T 2303957 2303957 + Variant 385791 RCV000429448 SCV000527181 364938 SKI NM_003036.3:c.1329C>T NP_003027.1:p.Pro443= NM_003036.3:c.1329C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 29, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-04-29 1 0 1 2303966 C T 2303966 2303966 + Variant 213672 RCV000195511 SCV000250655 209472 SKI NM_003036.3:c.1338C>T NP_003027.1:p.Leu446= NM_003036.3:c.1338C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jun 18, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-06-18 1 0 -1 2304012 C G 2304012 2304012 + Variant 409974 RCV000467693 SCV000550379 390989 SKI NM_003036.3:c.1384C>G NP_003027.1:p.Pro462Ala NM_003036.3:c.1384C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 01, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-04-01 1 0 -1 2304038 C T 2304038 2304038 + Variant 213673 RCV000197717;RCV000458443 SCV000250656;SCV000560937 209473 SKI NM_003036.3:c.1410C>T NP_003027.1:p.Pro470= NM_003036.3:c.1410C>T:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 13, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-06-22;2016-11-13 2 0 +1 2304012 C G 2304012 2304012 + Variant 409974 RCV000467693 SCV000550379 390989 SKI NM_003036.3:c.1384C>G NP_003027.1:p.Pro462Ala NM_003036.3:c.1384C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 14, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-07-14 1 0 +1 2304038 C T 2304038 2304038 + Variant 213673 RCV000197717;RCV000458443 SCV000250656;SCV000560937 209473 SKI NM_003036.3:c.1410C>T NP_003027.1:p.Pro470= NM_003036.3:c.1410C>T:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 31, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-06-22;2017-07-31 2 0 1 2304048 C G 2304048 2304048 + Variant 373583 RCV000413715 SCV000492188 359238 SKI NM_003036.3:c.1420C>G NP_003027.1:p.Pro474Ala NM_003036.3:c.1420C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 06, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-06 1 0 -1 2304074 G A 2304074 2304074 + Variant 139115 RCV000178187;RCV000233299;RCV000249175 SCV000171640;SCV000605115;SCV000309354;SCV000230202;SCV000287834;SCV000319431 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 5 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 25, 2017 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae,;Ambry Genetics GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae,;Ambry Genetics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 25741868;20301454;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-29;2015-01-13;0000-00-00;2016-01-08;2017-01-25;2015-02-16 2 0 -1 2304084 G A 2304084 2304084 + Variant 229252 RCV000218491 SCV000272435 228358 SKI NM_003036.3:c.1456G>A NP_003027.1:p.Val486Ile NM_003036.3:c.1456G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-08-11 1 0 -1 2304298 T A 2304298 2304298 + Variant 373745 RCV000414146;RCV000460773 SCV000492366;SCV000550381 359326 SKI NM_003036.3:c.1480T>A NP_003027.1:p.Ser494Thr NM_003036.3:c.1480T>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 12, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-12;2016-08-18 2 0 -1 2304323 C T 2304323 2304323 + Variant 377202 RCV000442707 SCV000511479 364080 SKI NM_003036.3:c.1505C>T NP_003027.1:p.Pro502Leu NM_003036.3:c.1505C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 21, 2016 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-11-21-06:00 1 0 -1 2304345 C T 2304345 2304345 + Variant 213674 RCV000199331;RCV000245139 SCV000605117;SCV000250657;SCV000269828;SCV000319439 209474 SKI NM_003036.3:c.1527C>T NP_003027.1:p.Ser509= NM_003036.3:c.1527C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 19, 2016 ARUP Laboratories, Molecular Genetics and Genomics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Ambry Genetics GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;ARUP Laboratories, Molecular Genetics and Genomics;Ambry Genetics not specified;Not specified;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 24033266;20301299;24882528;25173340 germline MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-09-11;2015-02-20;2016-12-19;2015-02-24 2 0 +1 2304049 C T 2304049 2304049 + Variant 451213 RCV000521240 SCV000619881 442737 SKI NM_003036.3:c.1421C>T NP_003027.1:p.Pro474Leu NM_003036.3:c.1421C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 08, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-08 1 0 +1 2304073 C T 2304073 2304073 + Variant 451641 RCV000519637 SCV000620364 442738 SKI NM_003036.3:c.1445C>T NP_003027.1:p.Ala482Val NM_003036.3:c.1445C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 29, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-29 1 0 +1 2304073 CG C 2304075 2304075 + Variant 450070 RCV000520789 SCV000618607 442739 SKI NM_003036.3:c.1447delG NP_003027.1:p.Glu483Argfs NM_003036.3:c.1447delG:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 27, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-27 1 0 +1 2304074 G A 2304074 2304074 + Variant 139115 RCV000178187;RCV000233299;RCV000249175 SCV000171640;SCV000605115;SCV000309354;SCV000230202;SCV000287834;SCV000319431 142818 SKI NM_003036.3:c.1446G>A NP_003027.1:p.Ala482= NM_003036.3:c.1446G>A:synonymous variant Benign benign 0 0 0 0 6 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 03, 2017 PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae;Ambry Genetics GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;Invitae;Ambry Genetics not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 25741868;20301454;28492532;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-29;2015-01-13;0000-00-00;2016-01-08;2017-08-03;2016-12-15 2 0 +1 2304084 G A 2304084 2304084 + Variant 229252 RCV000218491;RCV000535528 SCV000272435;SCV000637281 228358 SKI NM_003036.3:c.1456G>A NP_003027.1:p.Val486Ile NM_003036.3:c.1456G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 18, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Shprintzen-Goldberg syndrome 24033266;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-08-11;2017-04-18 2 0 +1 2304298 T A 2304298 2304298 + Variant 373745 RCV000414146;RCV000460773 SCV000492366;SCV000550381 359326 SKI NM_003036.3:c.1480T>A NP_003027.1:p.Ser494Thr NM_003036.3:c.1480T>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 12, 2016 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-12-12;2016-08-18 2 0 +1 2304323 C T 2304323 2304323 + Variant 377202 RCV000442707 SCV000511479 364080 SKI NM_003036.3:c.1505C>T NP_003027.1:p.Pro502Leu NM_003036.3:c.1505C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 21, 2016 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2016-11-21 1 0 +1 2304345 C T 2304345 2304345 + Variant 213674 RCV000199331;RCV000245139;RCV000550404 SCV000605117;SCV000250657;SCV000269828;SCV000319439;SCV000637282 209474 SKI NM_003036.3:c.1527C>T NP_003027.1:p.Ser509= NM_003036.3:c.1527C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 03, 2017 ARUP Laboratories, Molecular Genetics and Genomics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Ambry Genetics;Invitae GeneDx;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;ARUP Laboratories, Molecular Genetics and Genomics;Ambry Genetics;Invitae not specified;Not specified;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections;Shprintzen-Goldberg syndrome 24033266;19112531;20301299;24882528;25173340;20301454;28492532 germline MedGen:CN169374;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-09-11;2015-02-20;2016-12-19;2015-02-24;2017-04-03 2 0 1 2304346 G A 2304346 2304346 + Variant 213695 RCV000195482 SCV000250681 209475 SKI NM_003036.3:c.1528G>A NP_003027.1:p.Ala510Thr NM_003036.3:c.1528G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 26, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-03-26 1 0 +1 2304366 G A 2304366 2304366 + Variant 463396 RCV000528551 SCV000637283 447788 SKI NM_003036.3:c.1548G>A NP_003027.1:p.Pro516= NM_003036.3:c.1548G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 26, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-26 1 0 1 2304373 C T 2304373 2304373 + Variant 213696 RCV000197672 SCV000250682 209476 SKI NM_003036.3:c.1555C>T NP_003027.1:p.Arg519Cys NM_003036.3:c.1555C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 11, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-09-11 1 0 1 2304374 G A 2304374 2304374 + Variant 213675 RCV000196080 SCV000250658 209477 SKI NM_003036.3:c.1556G>A NP_003027.1:p.Arg519His NM_003036.3:c.1556G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 04, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-12-04 1 0 -1 2304386 C T 2304386 2304386 + Variant 180522 RCV000157499 SCV000207244 178441 SKI NM_003036.3:c.1568C>T NP_003027.1:p.Ser523Leu NM_003036.3:c.1568C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided Oct 06, 2014 Blueprint Genetics Blueprint Genetics Arterial dissection;Arterial dissection germline Human Phenotype Ontology:HP:0005294;MedGen:C0002949;MedGen:CN004695 2014-10-06 0 0 +1 2304386 C T 2304386 2304386 + Variant 180522 RCV000157499;RCV000538872 SCV000207244;SCV000637284 178441 SKI NM_003036.3:c.1568C>T NP_003027.1:p.Ser523Leu NM_003036.3:c.1568C>T:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Jun 07, 2017 Blueprint Genetics;Invitae Blueprint Genetics;Invitae Arterial dissection;Shprintzen-Goldberg syndrome 20301454;28492532 germline Human Phenotype Ontology:HP:0005294;MedGen:C0002949;MedGen:CN004695;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-10-06;2017-06-07 1 1 1 2304391 G A 2304391 2304391 + Variant 213676 RCV000197599 SCV000250659 209478 SKI NM_003036.3:c.1573G>A NP_003027.1:p.Val525Ile NM_003036.3:c.1573G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 17, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-07-17 1 0 1 2304398 ATGC A 2304402 2304404 + Variant 213704 RCV000197075 SCV000250690 209479 SKI NM_003036.3:c.1584_1586delTGC NP_003027.1:p.Ala530del NM_003036.3:c.1584_1586delTGC:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 05, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-05-05 1 0 -1 2304411 T C 2304411 2304411 + Variant 213677 RCV000199803;RCV000466338 SCV000309355;SCV000250660;SCV000560935 209480 SKI NM_003036.3:c.1593T>C NP_003027.1:p.Pro531= NM_003036.3:c.1593T>C:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 08, 2016 PreventionGenetics;GeneDx;Invitae, GeneDx;PreventionGenetics;Invitae, not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-07-01;0000-00-00;2016-12-08 2 0 -1 2304437 C T 2304437 2304437 + Variant 213697 RCV000199881 SCV000250683 209481 SKI NM_003036.3:c.1619C>T NP_003027.1:p.Ala540Val NM_003036.3:c.1619C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 22, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-22 1 0 -1 2304438 G A 2304438 2304438 + Variant 415898 RCV000456827 SCV000560934 390993 SKI NM_003036.3:c.1620G>A NP_003027.1:p.Ala540= NM_003036.3:c.1620G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-26 1 0 +1 2304411 T C 2304411 2304411 + Variant 213677 RCV000199803;RCV000466338 SCV000309355;SCV000250660;SCV000560935 209480 SKI NM_003036.3:c.1593T>C NP_003027.1:p.Pro531= NM_003036.3:c.1593T>C:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 25, 2017 PreventionGenetics;GeneDx;Invitae GeneDx;PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-07-01;0000-00-00;2017-07-25 2 0 +1 2304437 C T 2304437 2304437 + Variant 213697 RCV000199881;RCV000548962 SCV000250683;SCV000637285 209481 SKI NM_003036.3:c.1619C>T NP_003027.1:p.Ala540Val NM_003036.3:c.1619C>T:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 06, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-22;2017-04-06 2 0 +1 2304438 G A 2304438 2304438 + Variant 415898 RCV000456827 SCV000560934 390993 SKI NM_003036.3:c.1620G>A NP_003027.1:p.Ala540= NM_003036.3:c.1620G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-10-26 1 0 1 2304450 C T 2304450 2304450 + Variant 213678 RCV000196639 SCV000250661 209482 SKI NM_003036.3:c.1632C>T NP_003027.1:p.His544= NM_003036.3:c.1632C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 31, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-07-31 1 0 1 2304518 T C 2304518 2304518 + Variant 426770 RCV000489520 SCV000577301 414774 SKI NM_003036.3:c.1700T>C NP_003027.1:p.Val567Ala NM_003036.3:c.1700T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 05, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-05 1 0 -1 2304552 C T 2304552 2304552 + Variant 415897 RCV000472195 SCV000560933 391073 SKI NM_003036.3:c.1734C>T NP_003027.1:p.Ser578= NM_003036.3:c.1734C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter May 15, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-15 1 0 +1 2304552 C T 2304552 2304552 + Variant 415897 RCV000472195 SCV000560933 391073 SKI NM_003036.3:c.1734C>T NP_003027.1:p.Ser578= NM_003036.3:c.1734C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter May 15, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-05-15 1 0 1 2304557 C T 2304557 2304557 + Variant 432018 RCV000498763 SCV000589685 425342 SKI NM_003036.3:c.1739C>T NP_003027.1:p.Ala580Val NM_003036.3:c.1739C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 16, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-16 1 0 -1 2304591 C T 2304591 2304591 + Variant 239476 RCV000227068 SCV000287835 238217 SKI NM_003036.3:c.1767+6C>T NM_003036.3:c.1767+6C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 21, 2015 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-21 1 0 +1 2304591 C T 2304591 2304591 + Variant 239476 RCV000227068 SCV000287835 238217 SKI NM_003036.3:c.1767+6C>T NM_003036.3:c.1767+6C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 21, 2015 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-21 1 0 1 2306038 G T 2306038 2306038 + Variant 393207 RCV000442849 SCV000536583 364914 SKI NM_003036.3:c.1786G>T NP_003027.1:p.Val596Leu NM_003036.3:c.1786G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 03, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-03 1 0 -1 2306086 C T 2306086 2306086 + Variant 139116 RCV000179418;RCV000230962;RCV000243796 SCV000171641;SCV000309356;SCV000269829;SCV000231664;SCV000287836;SCV000319390 142819 SKI NM_003036.3:c.1834C>T NP_003027.1:p.Leu612= NM_003036.3:c.1834C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 5 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 15, 2017 PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae,;Ambry Genetics GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics;Invitae,;Ambry Genetics not specified;Not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 24033266;25741868;20301454;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-29;2015-06-08;2015-02-20;0000-00-00;2017-01-15;2015-03-04 2 0 -1 2306103 G A 2306103 2306103 + Variant 198156 RCV000179419;RCV000473994 SCV000231665;SCV000560922 195317 SKI NM_003036.3:c.1851G>A NP_003027.1:p.Glu617= NM_003036.3:c.1851G>A:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 08, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-04-02;2016-10-08 2 0 -1 2306112 C T 2306112 2306112 + Variant 415894 RCV000468377 SCV000560927 390971 SKI NM_003036.3:c.1860C>T NP_003027.1:p.Arg620= NM_003036.3:c.1860C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 24, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-24 1 0 +1 2306086 C T 2306086 2306086 + Variant 139116 RCV000179418;RCV000230962;RCV000243796 SCV000171641;SCV000309356;SCV000269829;SCV000231664;SCV000287836;SCV000319390 142819 SKI NM_003036.3:c.1834C>T NP_003027.1:p.Leu612= NM_003036.3:c.1834C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 5 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 05, 2017 PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae;Ambry Genetics GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;PreventionGenetics;Invitae;Ambry Genetics not specified;Not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 24033266;25741868;20301454;28492532;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2014-05-29;2015-06-08;2015-02-20;0000-00-00;2017-05-05;2015-03-04 2 0 +1 2306100 C A 2306100 2306100 + Variant 463398 RCV000541947 SCV000637287 447852 SKI NM_003036.3:c.1848C>A NP_003027.1:p.Ile616= NM_003036.3:c.1848C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 15, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-15 1 0 +1 2306100 C G 2306100 2306100 + Variant 463399 RCV000552281 SCV000637288 447789 SKI NM_003036.3:c.1848C>G NP_003027.1:p.Ile616Met NM_003036.3:c.1848C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 02, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-02 1 0 +1 2306103 G A 2306103 2306103 + Variant 198156 RCV000179419;RCV000473994 SCV000231665;SCV000560922 195317 SKI NM_003036.3:c.1851G>A NP_003027.1:p.Glu617= NM_003036.3:c.1851G>A:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 16, 2017 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-04-02;2017-05-16 2 0 +1 2306112 C T 2306112 2306112 + Variant 415894 RCV000468377 SCV000560927 390971 SKI NM_003036.3:c.1860C>T NP_003027.1:p.Arg620= NM_003036.3:c.1860C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 24, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-24 1 0 1 2306115 C T 2306115 2306115 + Variant 384451 RCV000430401 SCV000525272 364920 SKI NM_003036.3:c.1863C>T NP_003027.1:p.Ala621= NM_003036.3:c.1863C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-01 1 0 1 2306122 GAGA G 2306129 2306131 + Variant 213705 RCV000198612 SCV000250691 209485 SKI NM_003036.3:c.1877_1879delAGA NP_003027.1:p.Lys626del NM_003036.3:c.1877_1879delAGA:inframe_variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 06, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-05-06 1 0 1 2306129 A T 2306129 2306129 + Variant 213698 RCV000196715 SCV000250684 209484 SKI NM_003036.3:c.1877A>T NP_003027.1:p.Lys626Met NM_003036.3:c.1877A>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-04-21 1 0 -1 2306139 G A 2306139 2306139 + Variant 415893 RCV000476076 SCV000560925 391086 SKI NM_003036.3:c.1887G>A NP_003027.1:p.Glu629= NM_003036.3:c.1887G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 09, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-09 1 0 -1 2306142 C T 2306142 2306142 + Variant 198155 RCV000246302 SCV000231662;SCV000309358 195316 SKI NM_003036.3:c.1890C>T NP_003027.1:p.Ala630= NM_003036.3:c.1890C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter Nov 12, 2014 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2014-11-12;0000-00-00 1 1 +1 2306139 G A 2306139 2306139 + Variant 415893 RCV000476076 SCV000560925 391086 SKI NM_003036.3:c.1887G>A NP_003027.1:p.Glu629= NM_003036.3:c.1887G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 09, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-09-09 1 0 +1 2306142 C T 2306142 2306142 + Variant 198155 RCV000246302;RCV000525874 SCV000231662;SCV000309358;SCV000637289 195316 SKI NM_003036.3:c.1890C>T NP_003027.1:p.Ala630= NM_003036.3:c.1890C>T:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 2 0 criteria provided, conflicting interpretations criteria provided, single submitter May 25, 2017 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-11-12;0000-00-00;2017-05-25 1 1 1 2306184 G A 2306184 2306184 + Variant 383505 RCV000419527 SCV000523917 364733 SKI NM_003036.3:c.1932G>A NP_003027.1:p.Ala644= NM_003036.3:c.1932G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 09, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-02-09 1 0 -1 2306223 C T 2306223 2306223 + Variant 239477 RCV000233767 SCV000287837 238218 SKI NM_003036.3:c.1971C>T NP_003027.1:p.Gly657= NM_003036.3:c.1971C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 25, 2015 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-25 1 0 -1 2306226 C T 2306226 2306226 + Variant 139117 RCV000179417;RCV000227524 SCV000231663;SCV000309359;SCV000171642;SCV000287838 142820 SKI NM_003036.3:c.1974C>T NP_003027.1:p.Arg658= NM_003036.3:c.1974C>T:synonymous variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 18, 2017 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae, GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Invitae, not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-06-05;2014-10-07;0000-00-00;2017-01-18 2 0 -1 2306235 C T 2306235 2306235 + Variant 415895 RCV000475416 SCV000560928 390995 SKI NM_003036.3:c.1983C>T NP_003027.1:p.Ala661= NM_003036.3:c.1983C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 08, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 1 0 +1 2306187 G T 2306187 2306187 + Variant 463400 RCV000540734 SCV000637290 447792 SKI NM_003036.3:c.1935G>T NP_003027.1:p.Arg645= NM_003036.3:c.1935G>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 21, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-21 1 0 +1 2306194 C G 2306194 2306194 + Variant 463401 RCV000555329 SCV000637291 447532 SKI NM_003036.3:c.1942C>G NP_003027.1:p.Arg648Gly NM_003036.3:c.1942C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 29, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-29 1 0 +1 2306219 C T 2306219 2306219 + Variant 463402 RCV000531234 SCV000637292 447682 SKI NM_003036.3:c.1967C>T NP_003027.1:p.Ala656Val NM_003036.3:c.1967C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 30, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-30 1 0 +1 2306223 C T 2306223 2306223 + Variant 239477 RCV000233767 SCV000287837 238218 SKI NM_003036.3:c.1971C>T NP_003027.1:p.Gly657= NM_003036.3:c.1971C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 25, 2015 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2015-12-25 1 0 +1 2306226 C T 2306226 2306226 + Variant 139117 RCV000179417;RCV000227524 SCV000231663;SCV000309359;SCV000171642;SCV000287838 142820 SKI NM_003036.3:c.1974C>T NP_003027.1:p.Arg658= NM_003036.3:c.1974C>T:synonymous variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 13, 2017 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae GeneDx;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Invitae not specified;NOT SPECIFIED;Shprintzen-Goldberg syndrome 25741868;20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2014-06-05;2014-10-07;0000-00-00;2017-05-13 2 0 +1 2306228 T G 2306228 2306228 + Variant 449665 RCV000520058 SCV000617994 442740 SKI NM_003036.3:c.1976T>G NP_003027.1:p.Leu659Arg NM_003036.3:c.1976T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 30, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-30 1 0 +1 2306235 C T 2306235 2306235 + Variant 415895 RCV000475416 SCV000560928 390995 SKI NM_003036.3:c.1983C>T NP_003027.1:p.Ala661= NM_003036.3:c.1983C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 08, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 1 0 1 2306561 C T 2306561 2306561 + Variant 388616 RCV000444316 SCV000530961 364745 SKI NM_003036.3:c.1999-16C>T NM_003036.3:c.1999-16C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 12, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-08-12 1 0 -1 2306585 C G 2306585 2306585 + Variant 213699 RCV000198240;RCV000230294;RCV000243311 SCV000250685;SCV000287839;SCV000320452 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 22, 2017 GeneDx;Invitae,;Ambry Genetics GeneDx;Invitae,;Ambry Genetics not specified;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301454;20301299;24882528;25173340 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2017-03-22;2017-01-25;2015-10-13 2 0 +1 2306568 C G 2306568 2306568 + Variant 463403 RCV000546111 SCV000637293 447533 SKI NM_003036.3:c.1999-9C>G NM_003036.3:c.1999-9C>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 16, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-03-16 1 0 +1 2306585 C G 2306585 2306585 + Variant 213699 RCV000198240;RCV000230294;RCV000243311 SCV000250685;SCV000287839;SCV000320452 209486 SKI NM_003036.3:c.2007C>G NP_003027.1:p.Asp669Glu NM_003036.3:c.2007C>G:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 28, 2017 GeneDx;Invitae;Ambry Genetics GeneDx;Invitae;Ambry Genetics not specified;Shprintzen-Goldberg syndrome;Thoracic aortic aneurysm and aortic dissection;Thoracic aortic aneurysms and aortic dissections 20301454;28492532;20301299;24882528;25173340;25519456 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002;CSER_CC_NCGL: University of Washington Medical Center:UWMG_7008129;GeneTests:3358;Genetic Alliance:Thoracic+Aortic+Aneurysms+and+Aortic+Dissections/9386;Genetic Testing Registry (GTR):GTR000330992;Genetics Home Reference:familial-thoracic-aortic-aneurysm-and-dissection;MedGen:CN118826;OMIM:PS607086;Orphanet:91387 2017-03-22;2017-06-28;2015-10-13 2 0 1 2306585 C T 2306585 2306585 + Variant 432935 RCV000498915 SCV000590713 425343 SKI NM_003036.3:c.2007C>T NP_003027.1:p.Asp669= NM_003036.3:c.2007C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 26, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-26 1 0 -1 2306587 T G 2306587 2306587 + Variant 409975 RCV000473086 SCV000550380 390973 SKI NM_003036.3:c.2009T>G NP_003027.1:p.Leu670Arg NM_003036.3:c.2009T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 08, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 1 0 -1 2306591 G A 2306591 2306591 + Variant 415892 RCV000460660 SCV000560923 391089 SKI NM_003036.3:c.2013G>A NP_003027.1:p.Gln671= NM_003036.3:c.2013G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 22, 2016 Invitae, Invitae, Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-07-22 1 0 +1 2306587 T G 2306587 2306587 + Variant 409975 RCV000473086 SCV000550380 390973 SKI NM_003036.3:c.2009T>G NP_003027.1:p.Leu670Arg NM_003036.3:c.2009T>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 08, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-11-08 1 0 +1 2306591 G A 2306591 2306591 + Variant 415892 RCV000460660 SCV000560923 391089 SKI NM_003036.3:c.2013G>A NP_003027.1:p.Gln671= NM_003036.3:c.2013G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 22, 2016 Invitae Invitae Shprintzen-Goldberg syndrome 20301454 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2016-07-22 1 0 +1 2306606 C G 2306606 2306606 + Variant 463404 RCV000556095 SCV000637294 447795 SKI NM_003036.3:c.2028C>G NP_003027.1:p.His676Gln NM_003036.3:c.2028C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 05, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-05-05 1 0 +1 2306630 G T 2306630 2306630 + Variant 463405 RCV000530007 SCV000637295 447796 SKI NM_003036.3:c.2052G>T NP_003027.1:p.Leu684= NM_003036.3:c.2052G>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 13, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-02-13 1 0 1 2306634 G A 2306634 2306634 + Variant 213709 RCV000195941 SCV000250695 209487 SKI NM_003036.3:c.2056G>A NP_003027.1:p.Ala686Thr NM_003036.3:c.2056G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 01, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-12-01 1 0 +1 2306639 C A 2306639 2306639 + Variant 463406 RCV000544643 SCV000637296 447853 SKI NM_003036.3:c.2061C>A NP_003027.1:p.Asp687Glu NM_003036.3:c.2061C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-01 1 0 1 2306642 G C 2306642 2306642 + Variant 386021 RCV000425793 SCV000527527 364756 SKI NM_003036.3:c.2064G>C NP_003027.1:p.Leu688= NM_003036.3:c.2064G>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 05, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-05-05 1 0 1 2306706 T C 2306706 2306706 + Variant 213710 RCV000196830 SCV000250696 209488 SKI NM_003036.3:c.2128T>C NP_003027.1:p.Trp710Arg NM_003036.3:c.2128T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 20, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-01-20 1 0 +1 2306718 C T 2306718 2306718 + Variant 451473 RCV000522009 SCV000620179 442741 SKI NM_003036.3:c.2140C>T NP_003027.1:p.Arg714Cys NM_003036.3:c.2140C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 16, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-16 1 0 1 2306719 G A 2306719 2306719 + Variant 213679 RCV000197481 SCV000250662 209489 SKI NM_003036.3:c.2141G>A NP_003027.1:p.Arg714His NM_003036.3:c.2141G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 23, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-07-23 1 0 1 2306731 C G 2306731 2306731 + Variant 213680 RCV000199684 SCV000250663 209490 SKI NM_003036.3:c.2153C>G NP_003027.1:p.Ala718Gly NM_003036.3:c.2153C>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2014 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2014-08-11 1 0 +1 2306743 G T 2306743 2306743 + Variant 463407 RCV000559446 SCV000637297 447797 SKI NM_003036.3:c.2165G>T NP_003027.1:p.Gly722Val NM_003036.3:c.2165G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 06, 2017 Invitae Invitae Shprintzen-Goldberg syndrome 20301454;28492532 germline GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-04-06 1 0 1 2306749 C T 2306749 2306749 + Variant 440269 RCV000507977 SCV000605114 433915 SKI NM_003036.3:c.2171C>T NP_003027.1:p.Ala724Val NM_003036.3:c.2171C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 04, 2016 ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories, Molecular Genetics and Genomics not specified germline MedGen:CN169374 2016-10-04 1 0 -1 2306752 A C 2306752 2306752 + Variant 213700 RCV000199766 SCV000250686 209491 SKI NM_003036.3:c.2174A>C NP_003027.1:p.Glu725Ala NM_003036.3:c.2174A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 27, 2015 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2015-04-27 1 0 +1 2306752 A C 2306752 2306752 + Variant 213700 RCV000199766;RCV000537625 SCV000250686;SCV000637298 209491 SKI NM_003036.3:c.2174A>C NP_003027.1:p.Glu725Ala NM_003036.3:c.2174A>C:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 31, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454;28492532 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-10-31;2017-06-14 2 0 1 2306761 C T 2306761 2306761 + Variant 213701 RCV000196525 SCV000250687 209492 SKI NM_003036.3:c.2183C>T NP_003027.1:p.Pro728Leu NM_003036.3:c.2183C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 08, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-03-08 1 0 -1 2306762 G C 2306762 2306762 + Variant 386048 RCV000429161;RCV000474716 SCV000527559;SCV000560936 364924 SKI NM_003036.3:c.2184G>C NP_003027.1:p.Pro728= NM_003036.3:c.2184G>C:synonymous variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 29, 2017 GeneDx;Invitae, GeneDx;Invitae, not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-29;2016-10-01 2 0 +1 2306762 G C 2306762 2306762 + Variant 386048 RCV000429161;RCV000474716 SCV000527559;SCV000560936 364924 SKI NM_003036.3:c.2184G>C NP_003027.1:p.Pro728= NM_003036.3:c.2184G>C:synonymous variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 29, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Shprintzen-Goldberg syndrome 20301454 germline MedGen:CN169374;GeneReviews:NBK1277;Genetic Alliance:Shprintzen-Goldberg+craniosynostosis+syndrome/6581;Genetics Home Reference:shprintzen-goldberg-syndrome;MedGen:C1321551;OMIM:182212;Office of Rare Diseases:4861;Orphanet:2462;SNOMED CT:83092002 2017-06-29;2016-10-01 2 0 1 2306765 GATT G 2306766 2306768 + Variant 222822 RCV000208246 SCV000264227 224193 SKI NM_003036.3:c.*1_*3delATT NM_003036.3:c.*1_*3delATT:3 prime UTR variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 01, 2015 Blueprint Genetics Blueprint Genetics Marfanoid habitus germline MedGen:C1839796 2015-06-01 1 0 1 2306782 C T 2306782 2306782 + Variant 383970 RCV000425474 SCV000524596 364926 SKI NM_003036.3:c.*17C>T Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 07, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-07 1 0 1 2404912 C T 2404912 2404912 - Variant 296252 RCV000386642 SCV000355579 281775 PEX10 NM_153818.1:c.*854G>A NM_153818.1:c.*854G>A:3 prime UTR variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 @@ -405,31 +553,33 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 2406558 G A 2406558 2406558 - Variant 286808 RCV000407787 SCV000340373 271045 PEX10 NM_153818.1:c.898C>T NP_722540.1:p.Arg300Cys NM_153818.1:c.898C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 22, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-03-22 1 0 1 2406561 C A 2406561 2406561 - Variant 282334 RCV000289565 SCV000333750 266571 PEX10 NM_153818.1:c.895G>T NP_722540.1:p.Glu299Ter NM_153818.1:c.895G>T:nonsense Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Aug 12, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Peroxisome biogenesis disorder 6A germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 2015-08-12 1 0 1 2406566 A G 2406566 2406566 - Variant 162432 RCV000149810 SCV000196634 172123 PEX10 NM_153818.1:c.890T>C NP_722540.1:p.Leu297Pro NM_153818.1:c.890T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 12, 2015 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 19127411;6 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2009-02-01 0 0 -1 2406576 T C 2406576 2406576 - Variant 197887 RCV000179027 SCV000231216;SCV000540015;SCV000316395 195048 PEX10 NM_153818.1:c.880A>G NP_722540.1:p.Thr294Ala NM_153818.1:c.880A>G:missense variant Benign/Likely benign benign;benign;likely benign 0 0 0 1 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter;criteria provided, single submitter Mar 29, 2016 PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;not specified;NOT SPECIFIED;not specified 24033266;25741868 germline MedGen:CN169374 2014-11-23;0000-00-00;2016-03-29 2 0 +1 2406576 T C 2406576 2406576 - Variant 197887 RCV000179027;RCV000538777 SCV000231216;SCV000540015;SCV000316395;SCV000644952 195048 PEX10 NM_153818.1:c.880A>G NP_722540.1:p.Thr294Ala NM_153818.1:c.880A>G:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 09, 2017 PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;NOT SPECIFIED;Peroxisome biogenesis disorder, complementation group 7 24033266;25741868;28492532 germline MedGen:CN169374;MedGen:C1864399;OMIM:614870 2014-11-23;0000-00-00;2016-03-29;2017-06-09 2 0 1 2406580 C A 2406580 2406580 - Variant 289743 RCV000264178 SCV000344149 273980 PEX10 NM_153818.1:c.876G>T NP_722540.1:p.Leu292= NM_153818.1:c.876G>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 27, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-27 1 0 1 2406580 CAG C 2406581 2406582 - Variant 296273 RCV000337969;RCV000409050;RCV000411962 SCV000355604;SCV000487552;SCV000487551 281791 PEX10 NM_153818.1:c.874_875delCT NP_722540.1:p.Leu292Valfs NM_153818.1:c.874_875delCT:frameshift variant Pathogenic pathogenic 3 0 0 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 16, 2016 Illumina Clinical Services Laboratory,Illumina;Counsyl Illumina Clinical Services Laboratory,Illumina;Counsyl Zellweger syndrome;Zellweger Syndrome;Peroxisome biogenesis disorder 6B;Peroxisome biogenesis disorder 6A 10862081;12794690;19142205;20301621;21031596;22871920;27230853;9700193 germline;unknown GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006;MedGen:C3553948;OMIM:614871;Orphanet:44;Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870 2016-06-14;2016-08-16 2 0 1 2406584 G A 2406584 2406584 - Variant 289191 RCV000281616 SCV000343505 273428 PEX10 NM_153818.1:c.872C>T NP_722540.1:p.Pro291Leu NM_153818.1:c.872C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 30, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-06-30 1 0 1 2406585 G T 2406585 2406585 - Variant 286993 RCV000388149 SCV000340616 271230 PEX10 NM_153818.1:c.871C>A NP_722540.1:p.Pro291Thr NM_153818.1:c.871C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 05, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-04-05 1 0 1 2406712 G A 2406712 2406712 - Variant 296274 RCV000400274 SCV000355605 280483 PEX10 NM_153818.1:c.836+8C>T NM_153818.1:c.836+8C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 -1 2406719 C G 2406719 2406719 - Variant 225040 RCV000210672 SCV000262930 226879 PEX10 NM_153818.1:c.836+1G>C NM_153818.1:c.836+1G>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter - Ambry Genetics Ambry Genetics Inborn genetic diseases;MR/ID/DD;Allergy/Immunologic/Infectious (child onset);Hematologic (child onset);Renal (child onset) 22947299;23037933;23169492;23619275;23652378;23881473;24022298;24121147;24394680;25356970;25560141;25626707;25730230 germline MeSH:D030342;MedGen:C0950123 0000-00-00 1 0 +1 2406719 C G 2406719 2406719 - Variant 225040 RCV000210672 SCV000262930 226879 PEX10 NM_153818.1:c.836+1G>C NM_153818.1:c.836+1G>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Aug 30, 2012 Ambry Genetics Ambry Genetics Inborn genetic diseases;Inborn genetic diseases 22947299;23037933;23169492;23619275;23652378;23881473;24022298;24121147;24394680;25560141;25626707;25730230 germline MeSH:D030342;MedGen:C0950123 2012-08-30 1 0 1 2406723 C T 2406723 2406723 - Variant 290110 RCV000268088 SCV000344607 274347 PEX10 NM_153818.1:c.833G>A NP_722540.1:p.Arg278His NM_153818.1:c.833G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 31, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-31 1 0 1 2406736 C T 2406736 2406736 - Variant 296275 RCV000297739 SCV000355606 281804 PEX10 NM_153818.1:c.820G>A NP_722540.1:p.Gly274Ser NM_153818.1:c.820G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 1 2406766 G A 2406766 2406766 - Variant 162435 RCV000149813 SCV000196637 172126 PEX10 NM_153818.1:c.790C>T NP_722540.1:p.Arg264Ter NM_153818.1:c.790C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 12, 2015 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 20695019 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2010-08-01 0 0 1 2406784 C G 2406784 2406784 - Variant 197385 RCV000178398 SCV000230471 194546 PEX10 NM_153818.1:c.772G>C NP_722540.1:p.Gly258Arg NM_153818.1:c.772G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 04, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-02-04 1 0 1 2406785 G A 2406785 2406785 - Variant 296276 RCV000354897 SCV000355607 280485 PEX10 NM_153818.1:c.771C>T NP_722540.1:p.Tyr257= NM_153818.1:c.771C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 -1 2406791 C CT 2406792 2406792 - Variant 6774 RCV000007176;RCV000149808;RCV000324305 SCV000027372;SCV000487553;SCV000487554;SCV000196632;SCV000329456 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic pathogenic 5 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jul 22, 2016 OMIM;Counsyl;GeneDx OMIM;Counsyl;GeneDx Peroxisome biogenesis disorder 6A;PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER);Peroxisome biogenesis disorder 6B;not provided;Not Provided 10862081;15542397;17702006;20695019;9683594 germline;unknown Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912;MedGen:C3553948;OMIM:614871;Orphanet:44;MedGen:CN221809 2010-08-01;2016-07-22;2015-12-08 2 0 -1 2406811 C G 2406811 2406811 - Variant 296277 RCV000408360;RCV000425126 SCV000355608;SCV000511689 280137 PEX10 NM_153818.1:c.745G>C NP_722540.1:p.Val249Leu NM_153818.1:c.745G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jan 05, 2017 Illumina Clinical Services Laboratory,Illumina;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Illumina Clinical Services Laboratory,Illumina;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Zellweger syndrome;Zellweger Syndrome;not provided 20301621;25741868 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006;MedGen:CN221809 2016-06-14;2017-01-05-06:00 1 1 +1 2406791 C CT 2406792 2406792 - Variant 6774 RCV000007176;RCV000149808;RCV000324305 SCV000027372;SCV000487553;SCV000487554;SCV000196632;SCV000329456 21813 PEX10 NM_153818.1:c.764dupA NP_722540.1:p.Leu256Alafs NM_153818.1:c.764dupA:frameshift variant Pathogenic pathogenic 5 0 0 0 0 criteria provided, multiple submitters, no conflicts no assertion criteria provided;criteria provided, single submitter Jul 22, 2016 OMIM;Counsyl;GeneDx OMIM;Counsyl;GeneDx Peroxisome biogenesis disorder 6A;PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER);Peroxisome biogenesis disorder 6B;not provided;Not Provided 10862081;15542397;17702006;20695019;9683594 germline;unknown Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912;MedGen:C3553948;OMIM:614871;Orphanet:44;MedGen:CN517202 2010-08-01;2016-07-22;2015-12-08 2 0 +1 2406811 C G 2406811 2406811 - Variant 296277 RCV000408360;RCV000425126 SCV000355608;SCV000511689 280137 PEX10 NM_153818.1:c.745G>C NP_722540.1:p.Val249Leu NM_153818.1:c.745G>C:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jan 05, 2017 Illumina Clinical Services Laboratory,Illumina;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Illumina Clinical Services Laboratory,Illumina;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Zellweger syndrome;Zellweger Syndrome;not provided 20301621;25741868 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006;MedGen:CN517202 2016-06-14;2017-01-05 1 1 1 2406855 C T 2406855 2406855 - Variant 291156 RCV000343088 SCV000345862 275393 PEX10 NM_153818.1:c.701G>A NP_722540.1:p.Arg234His NM_153818.1:c.701G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 08, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-08 1 0 +1 2406856 G A 2406856 2406856 - Variant 446046 RCV000514876 SCV000611011 439318 PEX10 NM_153818.1:c.700C>T NP_722540.1:p.Arg234Cys NM_153818.1:c.700C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 05, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-09-05 1 0 1 2406885 C T 2406885 2406885 - Variant 197386 RCV000178399;RCV000315166 SCV000230472;SCV000355609 194547 PEX10 NM_153818.1:c.671G>A NP_722540.1:p.Arg224His NM_153818.1:c.671G>A:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina not specified;Zellweger syndrome;Zellweger Syndrome 20301621 germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2015-04-21;2016-06-14 2 0 1 2406970 C T 2406970 2406970 - Variant 296278 RCV000367525 SCV000355610 281805 PEX10 NM_153818.1:c.601-15G>A NM_153818.1:c.601-15G>A:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 -1 2408451 C T 2408451 2408451 - Variant 6770 RCV000007172 SCV000027368 21809 PEX10 NM_153818.1:c.600+1G>A NM_153818.1:c.600+1G>A:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 01, 1998 OMIM OMIM Peroxisome biogenesis disorder 6A;PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) 9683594 germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912 1998-08-01 0 0 +1 2408451 C T 2408451 2408451 - Variant 6770 RCV000007172;RCV000519441 SCV000027368;SCV000617242 21809 PEX10 NM_153818.1:c.600+1G>A NM_153818.1:c.600+1G>A:splice donor variant Pathogenic pathogenic 2 0 0 0 0 criteria provided, single submitter no assertion criteria provided;criteria provided, single submitter May 15, 2017 OMIM;GeneDx OMIM;GeneDx Peroxisome biogenesis disorder 6A;PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER);not provided;Not Provided 9683594 germline Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912;MedGen:CN517202 1998-08-01;2017-05-15 1 0 1 2408497 G A 2408497 2408497 - Variant 296279 RCV000275159 SCV000355611 281806 PEX10 NM_153818.1:c.555C>T NP_722540.1:p.His185= NM_153818.1:c.555C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 1 2408557 G A 2408557 2408557 - Variant 196588 RCV000177416 SCV000229272 193749 PEX10 NM_153818.1:c.495C>T NP_722540.1:p.Phe165= NM_153818.1:c.495C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 06, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-06 1 0 1 2408606 G A 2408606 2408606 - Variant 289259 RCV000378264 SCV000343590 273496 PEX10 NM_153818.1:c.446C>T NP_722540.1:p.Thr149Met NM_153818.1:c.446C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 05, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-07-05 1 0 +1 2408616 G C 2408616 2408616 - Variant 452215 RCV000520880 SCV000621003 442784 PEX10 NM_153818.1:c.436C>G NP_722540.1:p.Arg146Gly NM_153818.1:c.436C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 22, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-09-22 1 0 1 2408634 C G 2408634 2408634 - Variant 296280 RCV000309150 SCV000355612 281810 PEX10 NM_153818.1:c.418G>C NP_722540.1:p.Gly140Arg NM_153818.1:c.418G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 1 2408679 G A 2408679 2408679 - Variant 6772 RCV000007174 SCV000027370 21811 PEX10 NM_153818.1:c.373C>T NP_722540.1:p.Arg125Ter NM_153818.1:c.373C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 01, 1998 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 9683594 germline MedGen:C3553948;OMIM:614871;Orphanet:44 1998-08-01 0 0 1 2408700 G A 2408700 2408700 - Variant 371748 RCV000410037;RCV000411504 SCV000487627;SCV000487628 357074 PEX10 NM_153818.1:c.352C>T NP_722540.1:p.Gln118Ter NM_153818.1:c.352C>T:nonsense Likely pathogenic likely pathogenic 0 2 0 0 0 criteria provided, single submitter criteria provided, single submitter Oct 21, 2016 Counsyl Counsyl Peroxisome biogenesis disorder 6A;Peroxisome biogenesis disorder 6B 10862081;21031596;25525159 unknown Genetic Testing Registry (GTR):GTR000522761;MedGen:C3553947;OMIM:602859.0001;OMIM:602859.0004;OMIM:602859.0005;OMIM:602859.0006;OMIM:614870;Orphanet:912;MedGen:C3553948;OMIM:614871;Orphanet:44 2016-10-21 1 0 -1 2408713 CA C 2408714 2408714 - Variant 235465 RCV000224922 SCV000281066 237148 PEX10 NM_153818.1:c.338delT NP_722540.1:p.Leu113Argfs NM_153818.1:c.338delT:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Jan 11, 2016 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-01-11-06:00 1 0 +1 2408713 CA C 2408714 2408714 - Variant 235465 RCV000224922 SCV000281066 237148 PEX10 NM_153818.1:c.338delT NP_722540.1:p.Leu113Argfs NM_153818.1:c.338delT:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Jan 11, 2016 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2016-01-11 1 0 1 2408714 AG A 2408715 2408715 - Variant 162431 RCV000149809 SCV000196633 172122 PEX10 NM_153818.1:c.337delC NP_722540.1:p.Leu113Trpfs NM_153818.1:c.337delC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 12, 2015 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 19127411;8982949 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2009-02-01 0 0 1 2408719 G A 2408719 2408719 - Variant 289556 RCV000356298 SCV000343936 273793 PEX10 NM_153818.1:c.333C>T NP_722540.1:p.Leu111= NM_153818.1:c.333C>T:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 15, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-07-15 1 0 1 2408734 C T 2408734 2408734 - Variant 262789 RCV000249703;RCV000366305 SCV000316394;SCV000355613 249843 PEX10 NM_153818.1:c.318G>A NP_722540.1:p.Leu106= NM_153818.1:c.318G>A:synonymous variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 PreventionGenetics;Illumina Clinical Services Laboratory,Illumina PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 0000-00-00;2016-06-14 1 1 @@ -442,8 +592,9 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 2408863 G A 2408863 2408863 - Variant 262788 RCV000250225;RCV000377774 SCV000334697;SCV000316391;SCV000355619 249844 PEX10 NM_153818.1:c.194-5C>T NM_153818.1:c.194-5C>T:intron variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 2 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Zellweger syndrome;Zellweger Syndrome 25741868;20301621 germline MedGen:CN169374;GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 0000-00-00;2015-09-04;2016-06-14 1 1 1 2410440 A T 2410440 2410440 - Variant 436285 RCV000503264 SCV000596392 427756 PEX10 NM_153818.1:c.124T>A NP_722540.1:p.Trp42Arg NM_153818.1:c.124T>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 13, 2015 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago not specified;not specified 25741868 germline MedGen:CN169374 2015-08-13 1 0 1 2412497 G C 2412497 2412497 - Variant 284321 RCV000280964;RCV000370857 SCV000355620;SCV000336900 268558 PEX10 NM_153818.1:c.6C>G NP_722540.1:p.Ala2= NM_153818.1:c.6C>G:synonymous variant Conflicting interpretations of pathogenicity uncertain significance;benign 0 0 1 0 1 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Illumina Clinical Services Laboratory,Illumina;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Zellweger syndrome;Zellweger Syndrome;not specified 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006;MedGen:CN169374 2016-06-14;2015-10-30 1 1 +1 2412498 GC G 2412499 2412499 - Variant 449304 RCV000520897 SCV000617243 442785 PEX10 NM_153818.1:c.4delG NP_722540.1:p.Ala2Profs NM_153818.1:c.4delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter May 15, 2017 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2017-05-15 1 0 1 2412501 A G 2412501 2412501 - Variant 162434 RCV000149812 SCV000196636 172125 PEX10 NM_153818.1:c.2T>C NP_722540.1:p.Met1Thr NM_153818.1:c.2T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jan 12, 2015 OMIM OMIM Peroxisome biogenesis disorder 6B;PEROXISOME BIOGENESIS DISORDER 6B 20695019 germline MedGen:C3553948;OMIM:614871;Orphanet:44 2010-08-01 0 0 -1 2412502 T C 2412502 2412502 - Variant 280002 RCV000341916 SCV000329696 263985 PEX10 NM_153818.1:c.1A>G NP_722540.1:p.Met1Val NM_153818.1:c.1A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Nov 25, 2015 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2015-11-25 1 0 +1 2412502 T C 2412502 2412502 - Variant 280002 RCV000341916 SCV000329696 263985 PEX10 NM_153818.1:c.1A>G NP_722540.1:p.Met1Val NM_153818.1:c.1A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Nov 25, 2015 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2015-11-25 1 0 1 2412552 CCA C 2412553 2412554 - Variant 296284 RCV000338225 SCV000355621 281942 PEX10 NM_153818.1:c.-52_-51delTG NM_153818.1:c.-52_-51delTG:5 prime UTR variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Zellweger syndrome;Zellweger Syndrome 20301621 germline GeneReviews:NBK1448;Genetic Alliance:Zellweger+syndrome/7597;Genetics Home Reference:zellweger-spectrum-disorder;MedGen:C0043459;OMIM:214100;Office of Rare Diseases:7917;Orphanet:912;SNOMED CT:88469006 2016-06-14 1 0 1 2556714 A G 2556714 2556714 + Variant 135349 RCV000122164 SCV000086379 139088 TNFRSF14 NM_003820.3:c.50A>G NP_003811.2:p.Lys17Arg NM_003820.3:c.50A>G:missense variant;NR_037844.2:n.36-18T>C:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 1 2559013 C T 2559013 2559013 + Variant 133394 RCV000119896 SCV000084026 137133 TNFRSF14 NM_003820.3:c.304+545C>T NM_003820.3:c.304+545C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 @@ -475,7 +626,7 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 2560684 G A 2560684 2560684 + Variant 135354 RCV000122169 SCV000086384 139093 TNFRSF14 NM_003820.3:c.521G>A NP_003811.2:p.Gly174Glu NM_003820.3:c.521G>A:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 1 2561507 AG A 2561508 2561508 + Variant 133416 RCV000119918 SCV000084048 137155 TNFRSF14 NM_003820.3:c.552-165delG NM_003820.3:c.552-165delG:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 1 2561533 C T 2561533 2561533 + Variant 133417 RCV000119919 SCV000084049 137156 TNFRSF14 NM_003820.3:c.552-140C>T NM_003820.3:c.552-140C>T:intron variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 -1 2561679 C G 2561679 2561679 + Variant 91954 RCV000122511 SCV000155019 97432 TNFRSF14 NM_003820.3:c.558C>G NP_003811.2:p.Ser186Arg NM_001297605.1:c.551+965C>G:intron variant;NM_003820.3:c.558C>G:missense variant Uncertain significance unknown 0 0 0 0 0 no assertion criteria provided no assertion criteria provided - Richard Lifton Laboratory, Yale University School of Medicine Richard Lifton Laboratory, Yale University School of Medicine not provided;not provided somatic MedGen:CN221809 0000-00-00 0 0 +1 2561679 C G 2561679 2561679 + Variant 91954 RCV000122511 SCV000155019 97432 TNFRSF14 NM_003820.3:c.558C>G NP_003811.2:p.Ser186Arg NM_001297605.1:c.551+965C>G:intron variant;NM_003820.3:c.558C>G:missense variant Uncertain significance unknown 0 0 0 0 0 no assertion criteria provided no assertion criteria provided - Richard Lifton Laboratory, Yale University School of Medicine Richard Lifton Laboratory, Yale University School of Medicine not provided;not provided somatic MedGen:CN517202 0000-00-00 0 0 1 2562891 G A 2562891 2562891 + Variant 135355 RCV000122170 SCV000086385 139094 TNFRSF14 NM_003820.3:c.721G>A NP_003811.2:p.Val241Ile NM_001297605.1:c.*23G>A:3 prime UTR variant;NM_003820.3:c.721G>A:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 1 2563206 C T 2563206 2563206 + Variant 135356 RCV000122171 SCV000086386 139095 TNFRSF14 NM_003820.3:c.785C>T NP_003811.2:p.Pro262Leu NM_001297605.1:c.*87C>T:3 prime UTR variant;NM_003820.3:c.785C>T:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 1 2563218 C T 2563218 2563218 + Variant 135357 RCV000122172 SCV000086387 139096 TNFRSF14 NM_003820.3:c.797C>T NP_003811.2:p.Thr266Met NM_001297605.1:c.*99C>T:3 prime UTR variant;NM_003820.3:c.797C>T:missense variant not provided not provided 0 0 0 0 0 no assertion provided no assertion provided Sep 19, 2013 ITMI ITMI not specified;AllHighlyPenetrant 24728327 germline MedGen:CN169374 2013-09-19 0 0 @@ -483,268 +634,117 @@ chrom pos ref alt start stop strand variation_type variation_id rcv scv allele_i 1 3069280 G A 3069280 3069280 + Variant 390136 RCV000439530 SCV000532887 365123 PRDM16 NM_022114.3:c.21G>A NP_071397.3:p.Ala7= NM_022114.3:c.21G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-26 1 0 1 3186110 C T 3186110 3186110 + Variant 227038 RCV000222776 SCV000525689;SCV000269736 228410 PRDM16 NM_022114.3:c.38-15C>T NM_022114.3:c.38-15C>T:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Nov 21, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-11-21 2 0 1 3186111 G A 3186111 3186111 + Variant 229168 RCV000219133 SCV000527901;SCV000272332 228412 PRDM16 NM_022114.3:c.38-14G>A NM_022114.3:c.38-14G>A:intron variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter;criteria provided, single submitter May 25, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-04-14;2017-05-25 1 1 -1 3186187 G A 3186187 3186187 + Variant 227857 RCV000215109;RCV000228623 SCV000270747;SCV000525664;SCV000290637 228413 PRDM16 NM_022114.3:c.100G>A NP_071397.3:p.Ala34Thr NM_022114.3:c.100G>A:missense variant Likely benign likely benign 0 0 0 3 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 12, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-04-01;2016-10-06;2016-12-12 2 0 -1 3186188 C T 3186188 3186188 + Variant 406246 RCV000456657 SCV000544798 391167 PRDM16 NM_022114.3:c.101C>T NP_071397.3:p.Ala34Val NM_022114.3:c.101C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 19, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-19 1 0 -1 3186229 G A 3186229 3186229 + Variant 241420 RCV000234327;RCV000430883 SCV000290639;SCV000534200 238267 PRDM16 NM_022114.3:c.142G>A NP_071397.3:p.Val48Met NM_022114.3:c.142G>A:missense variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 22, 2016 Invitae,;GeneDx Invitae,;GeneDx Left ventricular noncompaction 8;not specified germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 2015-11-17;2016-11-22 2 0 +1 3186130 G A 3186130 3186130 + Variant 451384 RCV000523808 SCV000620077 442820 PRDM16 NM_022114.3:c.43G>A NP_071397.3:p.Gly15Ser NM_022114.3:c.43G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 16, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-16 1 0 +1 3186136 G A 3186136 3186136 + Variant 474437 RCV000548450 SCV000654402 448102 PRDM16 NM_022114.3:c.49G>A NP_071397.3:p.Val17Ile NM_022114.3:c.49G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 19, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-19 1 0 +1 3186136 G T 3186136 3186136 + Variant 474438 RCV000528572 SCV000654403 447765 PRDM16 NM_022114.3:c.49G>T NP_071397.3:p.Val17Phe NM_022114.3:c.49G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 16, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-05-16 1 0 +1 3186163 C T 3186163 3186163 + Variant 474439 RCV000549245 SCV000654405 447766 PRDM16 NM_022114.3:c.76C>T NP_071397.3:p.Arg26Trp NM_022114.3:c.76C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 31, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-07-31 1 0 +1 3186187 G A 3186187 3186187 + Variant 227857 RCV000215109;RCV000228623 SCV000270747;SCV000525664;SCV000290637 228413 PRDM16 NM_022114.3:c.100G>A NP_071397.3:p.Ala34Thr NM_022114.3:c.100G>A:missense variant Likely benign likely benign 0 0 0 3 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 10, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-04-01;2017-07-10;2017-05-30 2 0 +1 3186188 C T 3186188 3186188 + Variant 406246 RCV000456657 SCV000544798 391167 PRDM16 NM_022114.3:c.101C>T NP_071397.3:p.Ala34Val NM_022114.3:c.101C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 19, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-19 1 0 +1 3186189 G A 3186189 3186189 + Variant 474401 RCV000557090 SCV000654357 447768 PRDM16 NM_022114.3:c.102G>A NP_071397.3:p.Ala34= NM_022114.3:c.102G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Feb 03, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-02-03 1 0 +1 3186229 G A 3186229 3186229 + Variant 241420 RCV000234327;RCV000430883 SCV000290639;SCV000534200 238267 PRDM16 NM_022114.3:c.142G>A NP_071397.3:p.Val48Met NM_022114.3:c.142G>A:missense variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 24, 2017 Invitae;GeneDx Invitae;GeneDx Left ventricular noncompaction 8;not specified germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 2015-11-17;2017-08-24 2 0 1 3186233 G A 3186233 3186233 + Variant 423614 RCV000486085 SCV000573332 405157 PRDM16 NM_022114.3:c.146G>A NP_071397.3:p.Gly49Glu NM_022114.3:c.146G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 15, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-15 1 0 -1 3186287 C T 3186287 3186287 + Variant 406237 RCV000469281 SCV000544788 391187 PRDM16 NM_022114.3:c.200C>T NP_071397.3:p.Pro67Leu NM_022114.3:c.200C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 05, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-05 1 0 -1 3186288 G A 3186288 3186288 + Variant 227864 RCV000220218;RCV000228859 SCV000270754;SCV000290643 228414 PRDM16 NM_022114.3:c.201G>A NP_071397.3:p.Pro67= NM_022114.3:c.201G>A:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 24, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-08-11;2016-06-24 2 0 +1 3186284 C T 3186284 3186284 + Variant 474414 RCV000554012 SCV000654371 448074 PRDM16 NM_022114.3:c.197C>T NP_071397.3:p.Ser66Leu NM_022114.3:c.197C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 09, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-03-09 1 0 +1 3186287 C T 3186287 3186287 + Variant 406237 RCV000469281 SCV000544788 391187 PRDM16 NM_022114.3:c.200C>T NP_071397.3:p.Pro67Leu NM_022114.3:c.200C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 05, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-05 1 0 +1 3186288 G A 3186288 3186288 + Variant 227864 RCV000220218;RCV000228859 SCV000270754;SCV000290643 228414 PRDM16 NM_022114.3:c.201G>A NP_071397.3:p.Pro67= NM_022114.3:c.201G>A:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 25, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-08-11;2017-07-25 2 0 +1 3186419 G A 3186419 3186419 + Variant 474427 RCV000555918 SCV000654388 448076 PRDM16 NM_022114.3:c.332G>A NP_071397.3:p.Gly111Asp NM_022114.3:c.332G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 22, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-03-22 1 0 1 3186434 T C 3186434 3186434 + Variant 391742 RCV000426483 SCV000534878 365215 PRDM16 NM_022114.3:c.347T>C NP_071397.3:p.Val116Ala NM_022114.3:c.347T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 16, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-16 1 0 -1 3186480 C T 3186480 3186480 + Variant 227039 RCV000216479;RCV000464355 SCV000269737;SCV000556981 228415 PRDM16 NM_022114.3:c.387+6C>T NM_022114.3:c.387+6C>T:intron variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 06, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-06-10;2016-11-06 2 0 +1 3186440 G A 3186440 3186440 + Variant 474433 RCV000532976 SCV000654395 447770 PRDM16 NM_022114.3:c.353G>A NP_071397.3:p.Arg118Gln NM_022114.3:c.353G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 28, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-07-28 1 0 +1 3186480 C T 3186480 3186480 + Variant 227039 RCV000216479;RCV000464355 SCV000269737;SCV000556981 228415 PRDM16 NM_022114.3:c.387+6C>T NM_022114.3:c.387+6C>T:intron variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 08, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-06-10;2017-08-08 2 0 +1 3244097 C T 3244097 3244097 + Variant 451127 RCV000519955 SCV000619783 442821 PRDM16 NM_022114.3:c.398C>T NP_071397.3:p.Thr133Met NM_022114.3:c.398C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 03, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-03 1 0 1 3244102 G A 3244102 3244102 + Variant 432894 RCV000498621 SCV000590667 425363 PRDM16 NM_022114.3:c.403G>A NP_071397.3:p.Val135Met NM_022114.3:c.403G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 19, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-19 1 0 -1 3244128 C T 3244128 3244128 + Variant 227040 RCV000219941 SCV000269738 228416 PRDM16 NM_022114.3:c.429C>T NP_071397.3:p.Cys143= NM_022114.3:c.429C>T:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Nov 24, 2014 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 1 0 -1 3385148 G T 3385148 3385148 + Variant 413869 RCV000463252 SCV000556978 391188 PRDM16 NM_022114.3:c.439-4G>T NM_022114.3:c.439-4G>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 26, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-26 1 0 +1 3244128 C T 3244128 3244128 + Variant 227040 RCV000219941;RCV000559512 SCV000269738;SCV000654400 228416 PRDM16 NM_022114.3:c.429C>T NP_071397.3:p.Cys143= NM_022114.3:c.429C>T:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 16, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2017-05-16 2 0 +1 3385148 G T 3385148 3385148 + Variant 413869 RCV000463252 SCV000556978 391188 PRDM16 NM_022114.3:c.439-4G>T NM_022114.3:c.439-4G>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 26, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-26 1 0 1 3385157 C T 3385157 3385157 + Variant 227041 RCV000213616 SCV000269739;SCV000520304 228417 PRDM16 NM_022114.3:c.444C>T NP_071397.3:p.Ser148= NM_022114.3:c.444C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 09, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-09 2 0 -1 3385194 A G 3385194 3385194 + Variant 406240 RCV000475755 SCV000544792 391170 PRDM16 NM_022114.3:c.481A>G NP_071397.3:p.Asn161Asp NM_022114.3:c.481A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 19, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-19 1 0 -1 3385201 C T 3385201 3385201 + Variant 391177 RCV000444937 SCV000534187 365226 PRDM16 NM_022114.3:c.488C>T NP_071397.3:p.Ala163Val NM_022114.3:c.488C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 30, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-30 1 0 -1 3385266 A G 3385266 3385266 + Variant 235271 RCV000224254 SCV000280726 236958 PRDM16 NM_022114.3:c.553A>G NP_071397.3:p.Met185Val NM_022114.3:c.553A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 11, 2016 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2016-01-11-06:00 1 0 -1 3385295 G A 3385295 3385295 + Variant 413864 RCV000473521 SCV000556968 391176 PRDM16 NM_022114.3:c.573+9G>A NM_022114.3:c.573+9G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 03, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 1 0 +1 3385194 A G 3385194 3385194 + Variant 406240 RCV000475755 SCV000544792 391170 PRDM16 NM_022114.3:c.481A>G NP_071397.3:p.Asn161Asp NM_022114.3:c.481A>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 19, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-19 1 0 +1 3385201 C T 3385201 3385201 + Variant 391177 RCV000444937;RCV000535819 SCV000534187;SCV000654401 365226 PRDM16 NM_022114.3:c.488C>T NP_071397.3:p.Ala163Val NM_022114.3:c.488C>T:missense variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 07, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Left ventricular noncompaction 8 28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-30;2017-06-07 2 0 +1 3385266 A G 3385266 3385266 + Variant 235271 RCV000224254;RCV000536598 SCV000280726;SCV000654404 236958 PRDM16 NM_022114.3:c.553A>G NP_071397.3:p.Met185Val NM_022114.3:c.553A>G:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jul 26, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Invitae not provided;Left ventricular noncompaction 8 25741868;28492532 germline MedGen:CN517202;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-01-11;2017-07-26 1 1 +1 3385295 G A 3385295 3385295 + Variant 413864 RCV000473521 SCV000556968 391176 PRDM16 NM_022114.3:c.573+9G>A NM_022114.3:c.573+9G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 03, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 1 0 1 3396467 TTCTC T 3396471 3396474 + Variant 422807 RCV000482222 SCV000572372 405161 PRDM16 NM_022114.3:c.574-20_574-17delCTCT NM_022114.3:c.574-20_574-17delCTCT:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 29, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-29 1 0 -1 3396544 C T 3396544 3396544 + Variant 227042 RCV000217911;RCV000470033 SCV000269740;SCV000527902;SCV000556962 228418 PRDM16 NM_022114.3:c.627C>T NP_071397.3:p.His209= NM_022114.3:c.627C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 29, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-10-11;2016-12-29 2 0 +1 3396544 C T 3396544 3396544 + Variant 227042 RCV000217911;RCV000470033 SCV000269740;SCV000527902;SCV000556962 228418 PRDM16 NM_022114.3:c.627C>T NP_071397.3:p.His209= NM_022114.3:c.627C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 08, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-10-11;2017-08-08 2 0 1 3396574 A C 3396574 3396574 + Variant 227872 RCV000217723 SCV000270762 228419 PRDM16 NM_022114.3:c.657A>C NP_071397.3:p.Thr219= NM_022114.3:c.657A>C:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 01, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-01 1 0 1 3396583 C T 3396583 3396583 + Variant 226442 RCV000488452 SCV000270763 228241 PRDM16 NM_022114.3:c.666C>T NP_071397.3:p.Pro222= NM_022114.3:c.666C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 11, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-11 1 0 1 3402775 G A 3402775 3402775 + Variant 381208 RCV000420246 SCV000520353 365019 PRDM16 NM_022114.3:c.677-16G>A NM_022114.3:c.677-16G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Oct 04, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-04 1 0 1 3402828 C A 3402828 3402828 + Variant 227874 RCV000214448 SCV000270764 228420 PRDM16 NM_022114.3:c.714C>A NP_071397.3:p.Leu238= NM_022114.3:c.714C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 24, 2014 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 1 0 -1 3402897 C T 3402897 3402897 + Variant 227043 RCV000220870;RCV000228241 SCV000528008;SCV000269741;SCV000290657 228422 PRDM16 NM_022114.3:c.783C>T NP_071397.3:p.Tyr261= NM_022114.3:c.783C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 19, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-10-04;2017-01-19 2 0 +1 3402897 C T 3402897 3402897 + Variant 227043 RCV000220870;RCV000228241 SCV000528008;SCV000269741;SCV000290657 228422 PRDM16 NM_022114.3:c.783C>T NP_071397.3:p.Tyr261= NM_022114.3:c.783C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 18, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-10-04;2017-07-18 2 0 1 3402936 C T 3402936 3402936 + Variant 227875 RCV000217462 SCV000270765 228423 PRDM16 NM_022114.3:c.822C>T NP_071397.3:p.Gly274= NM_022114.3:c.822C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 24, 2014 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2014-11-24 1 0 -1 3402939 TG T 3402940 3402940 + Variant 377306 RCV000442803 SCV000511708 364184 PRDM16 NM_022114.3:c.826delG NP_071397.3:p.Gly276Alafs NM_022114.3:c.826delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Feb 07, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN221809 2017-02-07-06:00 1 0 +1 3402939 TG T 3402940 3402940 + Variant 377306 RCV000442803 SCV000511708 364184 PRDM16 NM_022114.3:c.826delG NP_071397.3:p.Gly276Alafs NM_022114.3:c.826delG:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Feb 07, 2017 Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not provided;not provided 25741868 germline MedGen:CN517202 2017-02-07 1 0 1 3402981 G A 3402981 3402981 + Variant 229169 RCV000223395 SCV000272333 228425 PRDM16 NM_022114.3:c.867G>A NP_071397.3:p.Met289Ile NM_022114.3:c.867G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 14, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-14 1 0 1 3402986 C T 3402986 3402986 + Variant 60728 RCV000054522 SCV000083000 75288 PRDM16 NM_022114.3:c.872C>T NP_071397.3:p.Pro291Leu NM_022114.3:c.872C>T:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 11, 2013 OMIM OMIM Dilated cardiomyopathy 1LL;CARDIOMYOPATHY, DILATED, 1LL 23768516 germline MedGen:CN178850;OMIM:615373 2013-07-11 0 0 -1 3404734 C T 3404734 3404734 + Variant 391408 RCV000431911 SCV000534475 365024 PRDM16 NM_022114.3:c.885-5C>T NM_022114.3:c.885-5C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 05, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-05 1 0 -1 3404735 G A 3404735 3404735 + Variant 413870 RCV000457740 SCV000556980 391323 PRDM16 NM_022114.3:c.885-4G>A NM_022114.3:c.885-4G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 31, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-31 1 0 -1 3405485 G A 3405485 3405485 + Variant 413861 RCV000466116 SCV000556961 391327 PRDM16 NM_022114.3:c.1033-10G>A NM_022114.3:c.1033-10G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 20, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-09-20 1 0 -1 3405487 C T 3405487 3405487 + Variant 413872 RCV000465432 SCV000556984 391224 PRDM16 NM_022114.3:c.1033-8C>T NM_022114.3:c.1033-8C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 04, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-04-04 1 0 -1 3405533 C T 3405533 3405533 + Variant 221025 RCV000204192;RCV000220538 SCV000262104;SCV000533008;SCV000269718 221095 PRDM16 NM_022114.3:c.1071C>T NP_071397.3:p.Arg357= NM_022114.3:c.1071C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 12, 2017 Invitae,;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Invitae,;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Left ventricular noncompaction 8;not specified;Not specified 24033266 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 2017-01-12;2014-11-24;2016-11-16 2 0 +1 3404734 C T 3404734 3404734 + Variant 391408 RCV000431911 SCV000534475 365024 PRDM16 NM_022114.3:c.885-5C>T NM_022114.3:c.885-5C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 06, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-11-06 1 0 +1 3404735 G A 3404735 3404735 + Variant 413870 RCV000457740 SCV000556980 391323 PRDM16 NM_022114.3:c.885-4G>A NM_022114.3:c.885-4G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 31, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-31 1 0 +1 3404790 C T 3404790 3404790 + Variant 474440 RCV000525376 SCV000654406 448121 PRDM16 NM_022114.3:c.936C>T NP_071397.3:p.Asp312= NM_022114.3:c.936C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 16, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-05-16 1 0 +1 3405485 G A 3405485 3405485 + Variant 413861 RCV000466116 SCV000556961 391327 PRDM16 NM_022114.3:c.1033-10G>A NM_022114.3:c.1033-10G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Sep 20, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-09-20 1 0 +1 3405487 C T 3405487 3405487 + Variant 413872 RCV000465432 SCV000556984 391224 PRDM16 NM_022114.3:c.1033-8C>T NM_022114.3:c.1033-8C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 04, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-04-04 1 0 +1 3405533 C T 3405533 3405533 + Variant 221025 RCV000204192;RCV000220538 SCV000262104;SCV000533008;SCV000269718 221095 PRDM16 NM_022114.3:c.1071C>T NP_071397.3:p.Arg357= NM_022114.3:c.1071C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 20, 2017 Invitae;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Invitae;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Left ventricular noncompaction 8;not specified;Not specified 28492532;24033266 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 2017-06-20;2014-11-24;2016-11-16 2 0 1 3405543 G A 3405543 3405543 + Variant 229155 RCV000213682 SCV000272319 228426 PRDM16 NM_022114.3:c.1081G>A NP_071397.3:p.Val361Met NM_022114.3:c.1081G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 08, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-08 1 0 -1 3405555 G T 3405555 3405555 + Variant 229156 RCV000216650 SCV000272320 228427 PRDM16 NM_022114.3:c.1093G>T NP_071397.3:p.Ala365Ser NM_022114.3:c.1093G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 28, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-05-28 1 0 -1 3405575 C T 3405575 3405575 + Variant 227022 RCV000214207;RCV000475757 SCV000269719;SCV000525690;SCV000556971 228429 PRDM16 NM_022114.3:c.1113C>T NP_071397.3:p.Cys371= NM_022114.3:c.1113C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 10, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-09-30;2017-01-10 2 0 +1 3405555 G T 3405555 3405555 + Variant 229156 RCV000216650 SCV000272320;SCV000620976 228427 PRDM16 NM_022114.3:c.1093G>T NP_071397.3:p.Ala365Ser NM_022114.3:c.1093G>T:missense variant Uncertain significance uncertain significance;uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 19, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-05-28;2017-09-19 2 0 +1 3405575 C T 3405575 3405575 + Variant 227022 RCV000214207;RCV000475757 SCV000269719;SCV000525690;SCV000556971 228429 PRDM16 NM_022114.3:c.1113C>T NP_071397.3:p.Cys371= NM_022114.3:c.1113C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 26, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-09-30;2017-07-26 2 0 1 3405578 G A 3405578 3405578 + Variant 227858 RCV000219433 SCV000535019;SCV000270748 228428 PRDM16 NM_022114.3:c.1116G>A NP_071397.3:p.Gly372= NM_022114.3:c.1116G>A:synonymous variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Dec 20, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-06-10;2016-12-20 2 0 -1 3405596 C G 3405596 3405596 + Variant 227859 RCV000222431;RCV000463379 SCV000534351;SCV000270749;SCV000556958 228430 PRDM16 NM_022114.3:c.1134C>G NP_071397.3:p.Ser378= NM_022114.3:c.1134C>G:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 28, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-03-24;2016-11-28;2016-06-21 2 0 +1 3405596 C G 3405596 3405596 + Variant 227859 RCV000222431;RCV000463379 SCV000534351;SCV000270749;SCV000556958 228430 PRDM16 NM_022114.3:c.1134C>G NP_071397.3:p.Ser378= NM_022114.3:c.1134C>G:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 28, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-03-24;2016-11-28;2016-06-21 2 0 1 3411374 G C 3411374 3411374 + Variant 229157 RCV000221026 SCV000272321 228431 PRDM16 NM_022114.3:c.1187-10G>C NM_022114.3:c.1187-10G>C:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 26, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-05-26 1 0 -1 3411409 G A 3411409 3411409 + Variant 227023 RCV000217174;RCV000230341 SCV000531906;SCV000269720;SCV000290638 228432 PRDM16 NM_022114.3:c.1212G>A NP_071397.3:p.Thr404= NM_022114.3:c.1212G>A:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 12, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2017-01-12;2017-01-04 2 0 +1 3411385 T C 3411385 3411385 + Variant 474402 RCV000537653 SCV000654358 448124 PRDM16 NM_022114.3:c.1188T>C NP_071397.3:p.Cys396= NM_022114.3:c.1188T>C:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jul 28, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-07-28 1 0 +1 3411409 G A 3411409 3411409 + Variant 227023 RCV000217174;RCV000230341 SCV000531906;SCV000269720;SCV000290638 228432 PRDM16 NM_022114.3:c.1212G>A NP_071397.3:p.Thr404= NM_022114.3:c.1212G>A:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 21, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2017-01-12;2017-07-21 2 0 1 3411522 G A 3411522 3411522 + Variant 373356 RCV000414577 SCV000491943 359261 PRDM16 NM_022114.3:c.1325G>A NP_071397.3:p.Arg442Gln NM_022114.3:c.1325G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-21 1 0 1 3411525 G A 3411525 3411525 + Variant 432618 RCV000497461 SCV000590367 425364 PRDM16 NM_022114.3:c.1328G>A NP_071397.3:p.Arg443His NM_022114.3:c.1328G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 09, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-09 1 0 1 3411560 G A 3411560 3411560 + Variant 227860 RCV000214839 SCV000270750 228433 PRDM16 NM_022114.3:c.1363G>A NP_071397.3:p.Gly455Ser NM_022114.3:c.1363G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 24, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-11-24 1 0 -1 3411590 C G 3411590 3411590 + Variant 406236 RCV000459138 SCV000544787 391328 PRDM16 NM_022114.3:c.1393C>G NP_071397.3:p.Pro465Ala NM_022114.3:c.1393C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 13, 2017 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-13 1 0 -1 3411623 C T 3411623 3411623 + Variant 227024 RCV000221460;RCV000474106 SCV000269721;SCV000556965 228435 PRDM16 NM_022114.3:c.1426C>T NP_071397.3:p.Pro476Ser NM_022114.3:c.1426C>T:missense variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 12, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-09-12 2 0 -1 3411655 CG C 3411656 3411656 + Variant 426516 RCV000489128 SCV000576978 414793 PRDM16 NM_022114.3:c.1459delG NP_071397.3:p.Glu487Serfs NM_022114.3:c.1459delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Apr 13, 2017 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2017-04-13 1 0 -1 3411682 G A 3411682 3411682 + Variant 406234 RCV000464362 SCV000544785 391330 PRDM16 NM_022114.3:c.1485G>A NP_071397.3:p.Pro495= NM_022114.3:c.1485G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 06, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-06 1 0 -1 3411715 G A 3411715 3411715 + Variant 227025 RCV000214308;RCV000461808 SCV000532874;SCV000269722;SCV000556955 228434 PRDM16 NM_022114.3:c.1518G>A NP_071397.3:p.Thr506= NM_022114.3:c.1518G>A:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 18, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-12-07;2017-01-18 2 0 -1 3411734 G A 3411734 3411734 + Variant 241421 RCV000228195 SCV000290640 238269 PRDM16 NM_022114.3:c.1537G>A NP_071397.3:p.Gly513Ser NM_022114.3:c.1537G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 28, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-28 1 0 -1 3411742 G A 3411742 3411742 + Variant 413859 RCV000477564 SCV000556957 391189 PRDM16 NM_022114.3:c.1545G>A NP_071397.3:p.Pro515= NM_022114.3:c.1545G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 03, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 1 0 -1 3411765 A AC 3411770 3411770 + Variant 280120 RCV000365162 SCV000329980 264033 PRDM16 NM_022114.3:c.1573dupC NP_071397.3:p.Arg525Profs NM_022114.3:c.1573dupC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Feb 08, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN221809 2016-02-08 1 0 +1 3411567 T C 3411567 3411567 + Variant 451963 RCV000519018 SCV000620733 442825 PRDM16 NM_022114.3:c.1370T>C NP_071397.3:p.Phe457Ser NM_022114.3:c.1370T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 11, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-09-11 1 0 +1 3411590 C G 3411590 3411590 + Variant 406236 RCV000459138 SCV000544787 391328 PRDM16 NM_022114.3:c.1393C>G NP_071397.3:p.Pro465Ala NM_022114.3:c.1393C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 16, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-16 1 0 +1 3411623 C T 3411623 3411623 + Variant 227024 RCV000221460;RCV000474106 SCV000269721;SCV000556965 228435 PRDM16 NM_022114.3:c.1426C>T NP_071397.3:p.Pro476Ser NM_022114.3:c.1426C>T:missense variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 12, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-09-12 2 0 +1 3411637 C T 3411637 3411637 + Variant 474403 RCV000550434 SCV000654359 447823 PRDM16 NM_022114.3:c.1440C>T NP_071397.3:p.His480= NM_022114.3:c.1440C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 09, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-02-09 1 0 +1 3411655 CG C 3411656 3411656 + Variant 426516 RCV000489128 SCV000576978 414793 PRDM16 NM_022114.3:c.1459delG NP_071397.3:p.Glu487Serfs NM_022114.3:c.1459delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Apr 13, 2017 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2017-04-13 1 0 +1 3411678 A C 3411678 3411678 + Variant 474404 RCV000558278 SCV000654360 447997 PRDM16 NM_022114.3:c.1481A>C NP_071397.3:p.His494Pro NM_022114.3:c.1481A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 10, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-07-10 1 0 +1 3411679 C G 3411679 3411679 + Variant 474405 RCV000537432 SCV000654361 447999 PRDM16 NM_022114.3:c.1482C>G NP_071397.3:p.His494Gln NM_022114.3:c.1482C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 22, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-06-22 1 0 +1 3411682 G A 3411682 3411682 + Variant 406234 RCV000464362 SCV000544785 391330 PRDM16 NM_022114.3:c.1485G>A NP_071397.3:p.Pro495= NM_022114.3:c.1485G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 06, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-06 1 0 +1 3411692 C T 3411692 3411692 + Variant 474406 RCV000549933 SCV000654362 448125 PRDM16 NM_022114.3:c.1495C>T NP_071397.3:p.Pro499Ser NM_022114.3:c.1495C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 16, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-05-16 1 0 +1 3411715 G A 3411715 3411715 + Variant 227025 RCV000214308;RCV000461808 SCV000532874;SCV000269722;SCV000556955 228434 PRDM16 NM_022114.3:c.1518G>A NP_071397.3:p.Thr506= NM_022114.3:c.1518G>A:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 04, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-12-07;2017-08-04 2 0 +1 3411734 G A 3411734 3411734 + Variant 241421 RCV000228195 SCV000290640 238269 PRDM16 NM_022114.3:c.1537G>A NP_071397.3:p.Gly513Ser NM_022114.3:c.1537G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 28, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-28 1 0 +1 3411742 G A 3411742 3411742 + Variant 413859 RCV000477564 SCV000556957 391189 PRDM16 NM_022114.3:c.1545G>A NP_071397.3:p.Pro515= NM_022114.3:c.1545G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 05, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-07-05 1 0 +1 3411763 G T 3411763 3411763 + Variant 474407 RCV000526217 SCV000654363 447830 PRDM16 NM_022114.3:c.1566G>T NP_071397.3:p.Leu522Phe NM_022114.3:c.1566G>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Jan 25, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-01-25 1 0 +1 3411765 A AC 3411770 3411770 + Variant 280120 RCV000365162 SCV000329980 264033 PRDM16 NM_022114.3:c.1573dupC NP_071397.3:p.Arg525Profs NM_022114.3:c.1573dupC:frameshift variant Pathogenic pathogenic 1 0 0 0 0 criteria provided, single submitter criteria provided, single submitter Feb 08, 2016 GeneDx GeneDx not provided;Not Provided germline MedGen:CN517202 2016-02-08 1 0 1 3411771 G A 3411771 3411771 + Variant 229158 RCV000213365 SCV000272322 228436 PRDM16 NM_022114.3:c.1574G>A NP_071397.3:p.Arg525Gln NM_022114.3:c.1574G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 26, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-01-26 1 0 -1 3411775 G A 3411775 3411775 + Variant 227861 RCV000219165;RCV000470998 SCV000270751;SCV000556982 228437 PRDM16 NM_022114.3:c.1578G>A NP_071397.3:p.Pro526= NM_022114.3:c.1578G>A:synonymous variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 18, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-01-22;2016-10-18 2 0 +1 3411775 G A 3411775 3411775 + Variant 227861 RCV000219165;RCV000470998 SCV000270751;SCV000556982 228437 PRDM16 NM_022114.3:c.1578G>A NP_071397.3:p.Pro526= NM_022114.3:c.1578G>A:synonymous variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 30, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-01-22;2017-05-30 2 0 1 3411794 T C 3411794 3411794 + Variant 227026 RCV000217271 SCV000520301;SCV000269723 228438 PRDM16 NM_022114.3:c.1597T>C NP_071397.3:p.Ser533Pro NM_022114.3:c.1597T>C:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 09, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-09 2 0 -1 3411796 G A 3411796 3411796 + Variant 413858 RCV000471293 SCV000556956 391333 PRDM16 NM_022114.3:c.1599G>A NP_071397.3:p.Ser533= NM_022114.3:c.1599G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Aug 03, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-03 1 0 -1 3411829 C T 3411829 3411829 + Variant 241422 RCV000232157 SCV000290641 238270 PRDM16 NM_022114.3:c.1632C>T NP_071397.3:p.Asp544= NM_022114.3:c.1632C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 26, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-02-26 1 0 -1 3411881 G A 3411881 3411881 + Variant 227862 RCV000223463;RCV000459912 SCV000530370;SCV000270752;SCV000556986 228439 PRDM16 NM_022114.3:c.1684G>A NP_071397.3:p.Val562Ile NM_022114.3:c.1684G>A:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 27, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2017-06-27;2016-11-03 2 0 +1 3411796 G A 3411796 3411796 + Variant 413858 RCV000471293 SCV000556956 391333 PRDM16 NM_022114.3:c.1599G>A NP_071397.3:p.Ser533= NM_022114.3:c.1599G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Aug 03, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-03 1 0 +1 3411829 C T 3411829 3411829 + Variant 241422 RCV000232157 SCV000290641 238270 PRDM16 NM_022114.3:c.1632C>T NP_071397.3:p.Asp544= NM_022114.3:c.1632C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 26, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-02-26 1 0 +1 3411848 C T 3411848 3411848 + Variant 474408 RCV000538631 SCV000654364 447834 PRDM16 NM_022114.3:c.1651C>T NP_071397.3:p.Leu551= NM_022114.3:c.1651C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 03, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-07-03 1 0 +1 3411865 G A 3411865 3411865 + Variant 474409 RCV000550818 SCV000654365 448135 PRDM16 NM_022114.3:c.1668G>A NP_071397.3:p.Leu556= NM_022114.3:c.1668G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 01, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-08-01 1 0 +1 3411881 G A 3411881 3411881 + Variant 227862 RCV000223463;RCV000459912 SCV000530370;SCV000270752;SCV000556986 228439 PRDM16 NM_022114.3:c.1684G>A NP_071397.3:p.Val562Ile NM_022114.3:c.1684G>A:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 04, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2017-06-27;2017-08-04 2 0 1 3411903 C T 3411903 3411903 + Variant 426420 RCV000489145 SCV000576855 414794 PRDM16 NM_022114.3:c.1706C>T NP_071397.3:p.Thr569Met NM_022114.3:c.1706C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 17, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-17 1 0 -1 3411916 G A 3411916 3411916 + Variant 241423 RCV000225997 SCV000290642 238271 PRDM16 NM_022114.3:c.1719G>A NP_071397.3:p.Ala573= NM_022114.3:c.1719G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 13, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-13 1 0 +1 3411906 C T 3411906 3411906 + Variant 474410 RCV000526833 SCV000654366 448002 PRDM16 NM_022114.3:c.1709C>T NP_071397.3:p.Thr570Met NM_022114.3:c.1709C>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Apr 25, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-04-25 1 0 +1 3411916 G A 3411916 3411916 + Variant 241423 RCV000225997 SCV000290642 238271 PRDM16 NM_022114.3:c.1719G>A NP_071397.3:p.Ala573= NM_022114.3:c.1719G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 13, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-13 1 0 1 3411923 G A 3411923 3411923 + Variant 430198 RCV000494613 SCV000582941 421241 PRDM16 NM_022114.3:c.1726G>A NP_071397.3:p.Glu576Lys NM_022114.3:c.1726G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 19, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-05-19 1 0 -1 3411994 G A 3411994 3411994 + Variant 390967 RCV000440662 SCV000533929 365233 PRDM16 NM_022114.3:c.1797G>A NP_071397.3:p.Ser599= NM_022114.3:c.1797G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 18, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-18 1 0 +1 3411934 C T 3411934 3411934 + Variant 474411 RCV000539562 SCV000654367 448137 PRDM16 NM_022114.3:c.1737C>T NP_071397.3:p.Phe579= NM_022114.3:c.1737C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 02, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-06-02 1 0 +1 3411942 G A 3411942 3411942 + Variant 474412 RCV000552825 SCV000654368 448142 PRDM16 NM_022114.3:c.1745G>A NP_071397.3:p.Arg582His NM_022114.3:c.1745G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 02, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-03-02 1 0 +1 3411994 G A 3411994 3411994 + Variant 390967 RCV000440662;RCV000533381 SCV000533929;SCV000654369 365233 PRDM16 NM_022114.3:c.1797G>A NP_071397.3:p.Ser599= NM_022114.3:c.1797G>A:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Mar 21, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Left ventricular noncompaction 8 28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-18;2017-03-21 2 0 +1 3412016 GTCAA TTCAT 3412016 3412020 + Variant 474413 RCV000541556 SCV000654370 448008 PRDM16 NM_022114.3:c.1819_1823delGTCAAinsTTCAT NP_071397.3:p.Val607_Asn608delinsPheIle Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 31, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-05-31 1 0 1 3412047 C T 3412047 3412047 + Variant 432644 RCV000498119 SCV000590394 425365 PRDM16 NM_022114.3:c.1850C>T NP_071397.3:p.Thr617Met NM_022114.3:c.1850C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 13, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-13 1 0 1 3412074 A T 3412074 3412074 + Variant 229159 RCV000217585 SCV000272323 228441 PRDM16 NM_022114.3:c.1877A>T NP_071397.3:p.Asp626Val NM_022114.3:c.1877A>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 26, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-01-26 1 0 -1 3412079 G A 3412079 3412079 + Variant 406247 RCV000466162 SCV000544799 391230 PRDM16 NM_022114.3:c.1882G>A NP_071397.3:p.Asp628Asn NM_022114.3:c.1882G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 15, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-15 1 0 +1 3412079 G A 3412079 3412079 + Variant 406247 RCV000466162 SCV000544799 391230 PRDM16 NM_022114.3:c.1882G>A NP_071397.3:p.Asp628Asn NM_022114.3:c.1882G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 15, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-15 1 0 1 3412095 C T 3412095 3412095 + Variant 227027 RCV000221571 SCV000269724;SCV000520305 228440 PRDM16 NM_022114.3:c.1898C>T NP_071397.3:p.Pro633Leu NM_022114.3:c.1898C>T:missense variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 23, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-23 2 0 1 3412127 G A 3412127 3412127 + Variant 392339 RCV000431315 SCV000535594 365026 PRDM16 NM_022114.3:c.1930G>A NP_071397.3:p.Glu644Lys NM_022114.3:c.1930G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 05, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-05 1 0 -1 3412159 G A 3412159 3412159 + Variant 413863 RCV000458957 SCV000556966 391179 PRDM16 NM_022114.3:c.1962G>A NP_071397.3:p.Ala654= NM_022114.3:c.1962G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 31, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-31 1 0 +1 3412158 C T 3412158 3412158 + Variant 452614 RCV000523550 SCV000621434 442826 PRDM16 NM_022114.3:c.1961C>T NP_071397.3:p.Ala654Val NM_022114.3:c.1961C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 06, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-10-06 1 0 +1 3412159 G A 3412159 3412159 + Variant 413863 RCV000458957 SCV000556966 391179 PRDM16 NM_022114.3:c.1962G>A NP_071397.3:p.Ala654= NM_022114.3:c.1962G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 31, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-31 1 0 1 3412162 C A 3412162 3412162 + Variant 391905 RCV000441266 SCV000535074 365030 PRDM16 NM_022114.3:c.1965C>A NP_071397.3:p.Pro655= NM_022114.3:c.1965C>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 19, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-19 1 0 -1 3412169 G C 3412169 3412169 + Variant 406241 RCV000462349 SCV000544793 391192 PRDM16 NM_022114.3:c.1972G>C NP_071397.3:p.Ala658Pro NM_022114.3:c.1972G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 10, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-10 1 0 +1 3412169 G C 3412169 3412169 + Variant 406241 RCV000462349 SCV000544793 391192 PRDM16 NM_022114.3:c.1972G>C NP_071397.3:p.Ala658Pro NM_022114.3:c.1972G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 10, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-07-10 1 0 1 3412174 G A 3412174 3412174 + Variant 227863 RCV000215898 SCV000270753 228442 PRDM16 NM_022114.3:c.1977G>A NP_071397.3:p.Pro659= NM_022114.3:c.1977G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 11, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-11 1 0 -1 3412234 C T 3412234 3412234 + Variant 413865 RCV000461094 SCV000556972 391334 PRDM16 NM_022114.3:c.2037C>T NP_071397.3:p.Asp679= NM_022114.3:c.2037C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 30, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-30 1 0 +1 3412181 G A 3412181 3412181 + Variant 474415 RCV000529750 SCV000654372 448146 PRDM16 NM_022114.3:c.1984G>A NP_071397.3:p.Val662Met NM_022114.3:c.1984G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 06, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-07-06 1 0 +1 3412234 C T 3412234 3412234 + Variant 413865 RCV000461094 SCV000556972 391334 PRDM16 NM_022114.3:c.2037C>T NP_071397.3:p.Asp679= NM_022114.3:c.2037C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 30, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-30 1 0 1 3412257 G C 3412257 3412257 + Variant 229160 RCV000221873 SCV000272324 228443 PRDM16 NM_022114.3:c.2060G>C NP_071397.3:p.Gly687Ala NM_022114.3:c.2060G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 22, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-03-22 1 0 1 3412286 G T 3412286 3412286 + Variant 229161 RCV000214303 SCV000272325 228444 PRDM16 NM_022114.3:c.2089G>T NP_071397.3:p.Ala697Ser NM_022114.3:c.2089G>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 22, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-22 1 0 -1 3412288 A T 3412288 3412288 + Variant 227028 RCV000215257;RCV000470201 SCV000269725;SCV000556959 228445 PRDM16 NM_022114.3:c.2091A>T NP_071397.3:p.Ala697= NM_022114.3:c.2091A>T:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 27, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-12-27 2 0 -1 3412297 C T 3412297 3412297 + Variant 220733 RCV000204005 SCV000261518 221096 PRDM16 NM_022114.3:c.2100C>T NP_071397.3:p.Ala700= NM_022114.3:c.2100C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 25, 2015 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-11-25 1 0 +1 3412288 A T 3412288 3412288 + Variant 227028 RCV000215257;RCV000470201 SCV000269725;SCV000556959 228445 PRDM16 NM_022114.3:c.2091A>T NP_071397.3:p.Ala697= NM_022114.3:c.2091A>T:synonymous variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 11, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2017-05-11 2 0 +1 3412297 C T 3412297 3412297 + Variant 220733 RCV000204005 SCV000261518 221096 PRDM16 NM_022114.3:c.2100C>T NP_071397.3:p.Ala700= NM_022114.3:c.2100C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 25, 2015 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-11-25 1 0 1 3412301 A T 3412301 3412301 + Variant 60724 RCV000054518 SCV000082996 75284 PRDM16 NM_022114.3:c.2104A>T NP_071397.3:p.Lys702Ter NM_022114.3:c.2104A>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 11, 2013 OMIM OMIM Left ventricular noncompaction 8;LEFT VENTRICULAR NONCOMPACTION 8 23768516 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2013-07-11 0 0 1 3412323 T C 3412323 3412323 + Variant 426184 RCV000489210 SCV000576566 414795 PRDM16 NM_022114.3:c.2126T>C NP_071397.3:p.Met709Thr NM_022114.3:c.2126T>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 27, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-27 1 0 -1 3412327 G A 3412327 3412327 + Variant 241424 RCV000232265 SCV000290644 238272 PRDM16 NM_022114.3:c.2130G>A NP_071397.3:p.Gly710= NM_022114.3:c.2130G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Mar 29, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-29 1 0 -1 3412339 G A 3412339 3412339 + Variant 413867 RCV000462221 SCV000556975 391195 PRDM16 NM_022114.3:c.2142G>A NP_071397.3:p.Lys714= NM_022114.3:c.2142G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 28, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-05-28 1 0 -1 3412369 G A 3412369 3412369 + Variant 391055 RCV000418130 SCV000534030 365033 PRDM16 NM_022114.3:c.2172G>A NP_071397.3:p.Ala724= NM_022114.3:c.2172G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-21 1 0 -1 3412478 G A 3412478 3412478 + Variant 406239 RCV000461410 SCV000544790 391197 PRDM16 NM_022114.3:c.2281G>A NP_071397.3:p.Ala761Thr NM_022114.3:c.2281G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-06-14 1 0 -1 3412487 G A 3412487 3412487 + Variant 229162 RCV000217269;RCV000226109 SCV000272326;SCV000530498;SCV000290645 228446 PRDM16 NM_022114.3:c.2290G>A NP_071397.3:p.Val764Met NM_022114.3:c.2290G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 2 0 criteria provided, conflicting interpretations criteria provided, single submitter Dec 12, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-10-20;2016-12-12;2016-10-18 1 1 -1 3412576 G A 3412576 3412576 + Variant 413873 RCV000473649 SCV000556985 391232 PRDM16 NM_022114.3:c.2379G>A NP_071397.3:p.Ser793= NM_022114.3:c.2379G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Dec 25, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-25 1 0 +1 3412327 G A 3412327 3412327 + Variant 241424 RCV000232265 SCV000290644 238272 PRDM16 NM_022114.3:c.2130G>A NP_071397.3:p.Gly710= NM_022114.3:c.2130G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Mar 29, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-29 1 0 +1 3412339 G A 3412339 3412339 + Variant 413867 RCV000462221 SCV000556975 391195 PRDM16 NM_022114.3:c.2142G>A NP_071397.3:p.Lys714= NM_022114.3:c.2142G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 28, 2016 Invitae Invitae Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-05-28 1 0 +1 3412345 G A 3412345 3412345 + Variant 453110 RCV000521524 SCV000621971 442827 PRDM16 NM_022114.3:c.2148G>A NP_071397.3:p.Leu716= NM_022114.3:c.2148G>A:synonymous variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 03, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-11-03 1 0 +1 3412369 G A 3412369 3412369 + Variant 391055 RCV000418130;RCV000546769 SCV000534030;SCV000654373 365033 PRDM16 NM_022114.3:c.2172G>A NP_071397.3:p.Ala724= NM_022114.3:c.2172G>A:synonymous variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 31, 2017 GeneDx;Invitae GeneDx;Invitae not specified;Left ventricular noncompaction 8 28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-21;2017-07-31 2 0 +1 3412384 C G 3412384 3412384 + Variant 474416 RCV000559473 SCV000654374 448154 PRDM16 NM_022114.3:c.2187C>G NP_071397.3:p.Phe729Leu NM_022114.3:c.2187C>G:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 08, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-05-08 1 0 +1 3412412 C G 3412412 3412412 + Variant 451225 RCV000522569 SCV000619896 442828 PRDM16 NM_022114.3:c.2215C>G NP_071397.3:p.Pro739Ala NM_022114.3:c.2215C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 14, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-08-14 1 0 +1 3412444 G A 3412444 3412444 + Variant 474417 RCV000530963 SCV000654375 448009 PRDM16 NM_022114.3:c.2247G>A NP_071397.3:p.Leu749= NM_022114.3:c.2247G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 09, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-02-09 1 0 +1 3412457 G A 3412457 3412457 + Variant 474418 RCV000546538 SCV000654376 448093 PRDM16 NM_022114.3:c.2260G>A NP_071397.3:p.Glu754Lys NM_022114.3:c.2260G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 17, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-05-17 1 0 +1 3412478 G A 3412478 3412478 + Variant 406239 RCV000461410 SCV000544790 391197 PRDM16 NM_022114.3:c.2281G>A NP_071397.3:p.Ala761Thr NM_022114.3:c.2281G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 15, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-06-15 1 0 +1 3412487 G A 3412487 3412487 + Variant 229162 RCV000217269;RCV000226109 SCV000272326;SCV000530498;SCV000290645 228446 PRDM16 NM_022114.3:c.2290G>A NP_071397.3:p.Val764Met NM_022114.3:c.2290G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 2 0 criteria provided, conflicting interpretations criteria provided, single submitter Aug 31, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae not specified;Not specified;Left ventricular noncompaction 8 24033266;28492532 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-10-20;2017-08-31;2017-07-28 1 1 +1 3412493 G A 3412493 3412493 + Variant 474419 RCV000558931 SCV000654377 448156 PRDM16 NM_022114.3:c.2296G>A NP_071397.3:p.Gly766Ser NM_022114.3:c.2296G>A:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 17, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-03-17 1 0 +1 3412576 G A 3412576 3412576 + Variant 413873 RCV000473649 SCV000556985 391232 PRDM16 NM_022114.3:c.2379G>A NP_071397.3:p.Ser793= NM_022114.3:c.2379G>A:synonymous variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Feb 22, 2017 Invitae Invitae Left ventricular noncompaction 8 28492532 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-02-22 1 0 1 3412583 G A 3412583 3412583 + Variant 424068 RCV000478115 SCV000573845 405162 PRDM16 NM_022114.3:c.2386G>A NP_071397.3:p.Ala796Thr NM_022114.3:c.2386G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 10, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-10 1 0 -1 3412603 G A 3412603 3412603 + Variant 390010 RCV000438891 SCV000532721 365036 PRDM16 NM_022114.3:c.2406G>A NP_071397.3:p.Pro802= NM_022114.3:c.2406G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 14, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-14 1 0 -1 3412631 C T 3412631 3412631 + Variant 229163 RCV000221476 SCV000272327 228447 PRDM16 NM_022114.3:c.2434C>T NP_071397.3:p.Arg812Cys NM_022114.3:c.2434C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 02, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-04-02 1 0 -1 3412640 C T 3412640 3412640 + Variant 406222 RCV000468700 SCV000544765 391182 PRDM16 NM_022114.3:c.2443C>T NP_071397.3:p.Gln815Ter NM_022114.3:c.2443C>T:nonsense Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 24, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-04-24 1 0 -1 3412644 A G 3412644 3412644 + Variant 60726 RCV000054520 SCV000082998 75286 PRDM16 NM_022114.3:c.2447A>G NP_071397.3:p.Asn816Ser NM_022114.3:c.2447A>G:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 11, 2013 OMIM OMIM Left ventricular noncompaction 8;LEFT VENTRICULAR NONCOMPACTION 8 23768516 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2013-07-11 0 0 -1 3412645 C T 3412645 3412645 + Variant 388234 RCV000421212;RCV000471531 SCV000530495;SCV000556976 365129 PRDM16 NM_022114.3:c.2448C>T NP_071397.3:p.Asn816= NM_022114.3:c.2448C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 24, 2017 GeneDx;Invitae, GeneDx;Invitae, not specified;Left ventricular noncompaction 8 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2017-04-24;2016-10-09 2 0 -1 3412646 G A 3412646 3412646 + Variant 241425 RCV000230075 SCV000290646 238273 PRDM16 NM_022114.3:c.2449G>A NP_071397.3:p.Gly817Ser NM_022114.3:c.2449G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 15, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-02-15 1 0 -1 3412649 G A 3412649 3412649 + Variant 241426 RCV000232966;RCV000418666 SCV000290647;SCV000532573 238274 PRDM16 NM_022114.3:c.2452G>A NP_071397.3:p.Gly818Ser NM_022114.3:c.2452G>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 16, 2017 Invitae,;GeneDx Invitae,;GeneDx Left ventricular noncompaction 8;not specified germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 2017-01-16;2016-10-11 2 0 -1 3412664 C T 3412664 3412664 + Variant 406245 RCV000471354 SCV000544797 391233 PRDM16 NM_022114.3:c.2467C>T NP_071397.3:p.Arg823Cys NM_022114.3:c.2467C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 07, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-07 1 0 -1 3412665 G C 3412665 3412665 + Variant 227865 RCV000223185;RCV000226799 SCV000533889;SCV000270755;SCV000290648 228448 PRDM16 NM_022114.3:c.2468G>C NP_071397.3:p.Arg823Pro NM_022114.3:c.2468G>C:missense variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 26, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266;26350513 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-01-13;2017-05-26;2017-01-04 2 0 -1 3412699 C T 3412699 3412699 + Variant 227029 RCV000219694 SCV000269726;SCV000520302 228449 PRDM16 NM_022114.3:c.2502C>T NP_071397.3:p.Gly834= NM_022114.3:c.2502C>T:synonymous variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Oct 06, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-11;2016-10-06 2 0 -1 3412703 G A 3412703 3412703 + Variant 227030 RCV000221333;RCV000469328 SCV000269727;SCV000556970 228450 PRDM16 NM_022114.3:c.2506G>A NP_071397.3:p.Gly836Ser NM_022114.3:c.2506G>A:missense variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 12, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-09-12 2 0 -1 3412733 C T 3412733 3412733 + Variant 406238 RCV000476374 SCV000544789 391237 PRDM16 NM_022114.3:c.2536C>T NP_071397.3:p.Arg846Trp NM_022114.3:c.2536C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 03, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 1 0 -1 3412773 C T 3412773 3412773 + Variant 229164 RCV000215161;RCV000468206 SCV000492137;SCV000272328;SCV000544791 228451 PRDM16 NM_022114.3:c.2576C>T NP_071397.3:p.Ser859Leu NM_022114.3:c.2576C>T:missense variant Uncertain significance uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Nov 28, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-06-10;2016-11-28;2016-04-07 2 0 -1 3412820 C T 3412820 3412820 + Variant 381194 RCV000433986 SCV000520306 365234 PRDM16 NM_022114.3:c.2603+20C>T NM_022114.3:c.2603+20C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Sep 23, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-23 1 0 -1 3414590 C T 3414590 3414590 + Variant 227866 RCV000216924;RCV000469880 SCV000530820;SCV000270756;SCV000556979 228452 PRDM16 NM_022114.3:c.2634C>T NP_071397.3:p.Pro878= NM_022114.3:c.2634C>T:synonymous variant Benign/Likely benign likely benign;benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Apr 25, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-10-22;2017-04-25;2017-01-10 2 0 -1 3414591 G A 3414591 3414591 + Variant 432243 RCV000498032 SCV000589953 425366 PRDM16 NM_022114.3:c.2635G>A NP_071397.3:p.Val879Met NM_022114.3:c.2635G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 05, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-05 1 0 -1 3414602 G A 3414602 3414602 + Variant 413866 RCV000467739 SCV000556973 391194 PRDM16 NM_022114.3:c.2646G>A NP_071397.3:p.Leu882= NM_022114.3:c.2646G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-26 1 0 -1 3414616 T C 3414616 3414616 + Variant 60729 RCV000054523 SCV000083001 75289 PRDM16 NM_022114.3:c.2660T>C NP_071397.3:p.Leu887Pro NM_022114.3:c.2660T>C:missense variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Jul 11, 2013 OMIM OMIM Dilated cardiomyopathy 1LL;CARDIOMYOPATHY, DILATED, 1LL 23768516 germline MedGen:CN178850;OMIM:615373 2013-07-11 0 0 -1 3414629 G A 3414629 3414629 + Variant 227031 RCV000215017;RCV000475588 SCV000525688;SCV000269728;SCV000556954 228453 PRDM16 NM_022114.3:c.2673G>A NP_071397.3:p.Pro891= NM_022114.3:c.2673G>A:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 23, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-10-11;2016-10-23 2 0 -1 3414652 G A 3414652 3414652 + Variant 390179 RCV000437038 SCV000532947 365238 PRDM16 NM_022114.3:c.2691+5G>A NM_022114.3:c.2691+5G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-21 1 0 -1 3417818 A G 3417818 3417818 + Variant 390108 RCV000434063;RCV000457891 SCV000532849;SCV000556963 365235 PRDM16 NM_022114.3:c.2692-10A>G NM_022114.3:c.2692-10A>G:intron variant Benign/Likely benign likely benign;benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 19, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Left ventricular noncompaction 8 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-19;2016-06-21 2 0 -1 3417877 T C 3417877 3417877 + Variant 241427 RCV000229654;RCV000493075 SCV000290649;SCV000582942 238275 PRDM16 NM_022114.3:c.2741T>C NP_071397.3:p.Met914Thr NM_022114.3:c.2741T>C:missense variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 14, 2016 Invitae,;GeneDx Invitae,;GeneDx Left ventricular noncompaction 8;not specified germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 2015-12-17;2016-12-14 2 0 -1 3417883 C T 3417883 3417883 + Variant 218791 RCV000203205 SCV000258183 215209 PRDM16 NM_022114.3:c.2747C>T NP_071397.3:p.Ala916Val NM_022114.3:c.2747C>T:missense variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Apr 12, 2015 Division of Genomic Diagnostics,The Children's Hospital of Philadelphia Division of Genomic Diagnostics,The Children's Hospital of Philadelphia not specified;Not specified unknown MedGen:CN169374 2015-04-12 1 0 -1 3417916 A C 3417916 3417916 + Variant 373755 RCV000413206 SCV000492376 359242 PRDM16 NM_022114.3:c.2780A>C NP_071397.3:p.His927Pro NM_022114.3:c.2780A>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 09, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-12-09 1 0 -1 3417922 C A 3417922 3417922 + Variant 229165 RCV000219521 SCV000577100;SCV000272329 228454 PRDM16 NM_022114.3:c.2786C>A NP_071397.3:p.Pro929His NM_022114.3:c.2786C>A:missense variant Uncertain significance uncertain significance;uncertain significance 0 0 2 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Apr 11, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-21;2017-04-11 2 0 -1 3417929 C T 3417929 3417929 + Variant 227032 RCV000219295;RCV000233639 SCV000531702;SCV000269729;SCV000290650 228455 PRDM16 NM_022114.3:c.2793C>T NP_071397.3:p.Asn931= NM_022114.3:c.2793C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 18, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-10-10;2017-01-18 2 0 -1 3417941 A ACC 3417945 3417946 + Variant 229166 RCV000221072 SCV000272330 228456 PRDM16 NM_022114.3:c.2809_2810dupCC NP_071397.3:p.Thr938Glnfs NM_022114.3:c.2809_2810dupCC:frameshift variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 02, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2016-03-02 1 0 -1 3417945 C G 3417945 3417945 + Variant 406243 RCV000475724 SCV000544795 391199 PRDM16 NM_022114.3:c.2809C>G NP_071397.3:p.Pro937Ala NM_022114.3:c.2809C>G:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 30, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-30 1 0 -1 3417949 C T 3417949 3417949 + Variant 406242 RCV000471782 SCV000544794 391196 PRDM16 NM_022114.3:c.2813C>T NP_071397.3:p.Thr938Met NM_022114.3:c.2813C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 02, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-02 1 0 -1 3417951 C G 3417951 3417951 + Variant 373801 RCV000414615;RCV000474992 SCV000492424;SCV000556974 359349 PRDM16 NM_022114.3:c.2815C>G NP_071397.3:p.Leu939Val NM_022114.3:c.2815C>G:missense variant Conflicting interpretations of pathogenicity uncertain significance;benign 0 0 1 0 1 criteria provided, conflicting interpretations criteria provided, single submitter Dec 14, 2016 GeneDx;Invitae, GeneDx;Invitae, not specified;Left ventricular noncompaction 8 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-14;2016-05-22 1 1 -1 3417992 G A 3417992 3417992 + Variant 227867 RCV000219939 SCV000270757 228457 PRDM16 NM_022114.3:c.2856G>A NP_071397.3:p.Thr952= NM_022114.3:c.2856G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 21, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-03-21 1 0 -1 3425563 C T 3425563 3425563 + Variant 392369 RCV000419766 SCV000535630 365132 PRDM16 NM_022114.3:c.2940-18C>T NM_022114.3:c.2940-18C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 05, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-01-05 1 0 -1 3425564 G A 3425564 3425564 + Variant 386315 RCV000441639 SCV000527895 365137 PRDM16 NM_022114.3:c.2940-17G>A NM_022114.3:c.2940-17G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Sep 28, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-09-28 1 0 -1 3425566 G A 3425566 3425566 + Variant 229167 RCV000214743 SCV000272331 228458 PRDM16 NM_022114.3:c.2940-15G>A NM_022114.3:c.2940-15G>A:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 23, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-07-23 1 0 -1 3425594 G A 3425594 3425594 + Variant 373270 RCV000413640 SCV000491853 359356 PRDM16 NM_022114.3:c.2953G>A NP_071397.3:p.Asp985Asn NM_022114.3:c.2953G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 21, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-11-21 1 0 -1 3425743 C T 3425743 3425743 + Variant 241428 RCV000226908;RCV000444388 SCV000290651;SCV000521409 238276 PRDM16 NM_022114.3:c.3102C>T NP_071397.3:p.Asn1034= NM_022114.3:c.3102C>T:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 23, 2017 Invitae,;GeneDx Invitae,;GeneDx Left ventricular noncompaction 8;not specified germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260;MedGen:CN169374 2016-10-08;2017-06-23 2 0 -1 3425760 G A 3425760 3425760 + Variant 227033 RCV000223403;RCV000460045 SCV000269730;SCV000529354;SCV000556969 228459 PRDM16 NM_022114.3:c.3109+10G>A NM_022114.3:c.3109+10G>A:intron variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 18, 2017 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-12-05;2017-01-18 2 0 -1 3425762 G C 3425762 3425762 + Variant 227868 RCV000213653 SCV000270758;SCV000525750 228460 PRDM16 NM_022114.3:c.3109+12G>C NM_022114.3:c.3109+12G>C:intron variant Likely benign likely benign;likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Oct 27, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-07-08;2016-10-27 2 0 -1 3426047 G A 3426047 3426047 + Variant 227869 RCV000217996;RCV000465584 SCV000270759;SCV000556967 228461 PRDM16 NM_022114.3:c.3110-4G>A NM_022114.3:c.3110-4G>A:intron variant Likely benign likely benign 0 0 0 2 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jul 15, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-04-16;2016-07-15 2 0 -1 3426065 G A 3426065 3426065 + Variant 426514 RCV000490016 SCV000576974 414796 PRDM16 NM_022114.3:c.3124G>A NP_071397.3:p.Gly1042Arg NM_022114.3:c.3124G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 13, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-04-13 1 0 -1 3426070 C T 3426070 3426070 + Variant 241429 RCV000230873 SCV000290652 238277 PRDM16 NM_022114.3:c.3129C>T NP_071397.3:p.Val1043= NM_022114.3:c.3129C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 25, 2015 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2015-11-25 1 0 -1 3426071 C T 3426071 3426071 + Variant 227034 RCV000215790;RCV000232612 SCV000269731;SCV000528022;SCV000290653 228462 PRDM16 NM_022114.3:c.3130C>T NP_071397.3:p.Leu1044Phe NM_022114.3:c.3130C>T:missense variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Dec 27, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-12-27;2016-04-16 2 0 -1 3426076 G A 3426076 3426076 + Variant 227870 RCV000220998 SCV000270760 228463 PRDM16 NM_022114.3:c.3135G>A NP_071397.3:p.Thr1045= NM_022114.3:c.3135G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter May 06, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-05-06 1 0 -1 3426080 C A 3426080 3426080 + Variant 423292 RCV000486279 SCV000572969 405163 PRDM16 NM_022114.3:c.3139C>A NP_071397.3:p.His1047Asn NM_022114.3:c.3139C>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 06, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-02-06 1 0 -1 3426210 C T 3426210 3426210 + Variant 241430 RCV000227583 SCV000290654 238278 PRDM16 NM_022114.3:c.3269C>T NP_071397.3:p.Thr1090Met NM_022114.3:c.3269C>T:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 12, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-03-12 1 0 -1 3426211 G A 3426211 3426211 + Variant 413871 RCV000458810 SCV000556983 391340 PRDM16 NM_022114.3:c.3270G>A NP_071397.3:p.Thr1090= NM_022114.3:c.3270G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 26, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-10-26 1 0 -1 3426240 G T 3426240 3426240 + Variant 227035 RCV000218772 SCV000520303;SCV000269732 228464 PRDM16 NM_022114.3:c.3284+15G>T NM_022114.3:c.3284+15G>T:intron variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Sep 23, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2015-03-04;2016-09-23 2 0 -1 3430888 G A 3430888 3430888 + Variant 60727 RCV000054521;RCV000204421;RCV000223010 SCV000082999;SCV000262005;SCV000269733 75287 PRDM16 NM_022114.3:c.3301G>A NP_071397.3:p.Val1101Met NM_022114.3:c.3301G>A:missense variant Conflicting interpretations of pathogenicity uncertain significance;benign 0 0 1 0 2 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Dec 02, 2016 OMIM;Invitae,;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine OMIM;Invitae,;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Dilated cardiomyopathy 1LL;RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE;Left ventricular noncompaction 8;not specified;Not specified 23768516;27535533;24033266 germline MedGen:CN178850;OMIM:615373;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;Orphanet:154;Orphanet:54260;MedGen:CN169374 2013-07-11;2015-10-31;2015-04-29 1 1 -1 3430950 G GGAC 3430956 3430958 + Variant 413868 RCV000475206 SCV000556977 391341 PRDM16 NM_022114.3:c.3369_3371dupCGA NP_071397.3:p.Asp1125_Leu1126insAsp Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Dec 14, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-12-14 1 0 -1 3430953 C T 3430953 3430953 + Variant 227871 RCV000213381 SCV000270761 228465 PRDM16 NM_022114.3:c.3366C>T NP_071397.3:p.Asp1122= NM_022114.3:c.3366C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 13, 2015 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine not specified;Not specified 24033266 germline MedGen:CN169374 2015-08-13 1 0 -1 3430956 C T 3430956 3430956 + Variant 227036 RCV000216881;RCV000230406 SCV000529327;SCV000269734;SCV000290655 228466 PRDM16 NM_022114.3:c.3369C>T NP_071397.3:p.Asp1123= NM_022114.3:c.3369C>T:synonymous variant Benign benign 0 0 0 0 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 06, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae, not specified;Not specified;Left ventricular noncompaction 8 24033266 germline MedGen:CN169374;Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2014-11-24;2016-10-06;2016-09-16 2 0 -1 3431029 G A 3431029 3431029 + Variant 406233 RCV000460254 SCV000544784 391240 PRDM16 NM_022114.3:c.3442G>A NP_071397.3:p.Glu1148Lys NM_022114.3:c.3442G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 18, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-18 1 0 -1 3431031 G A 3431031 3431031 + Variant 413862 RCV000464489 SCV000556964 391206 PRDM16 NM_022114.3:c.3444G>A NP_071397.3:p.Glu1148= NM_022114.3:c.3444G>A:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 30, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-30 1 0 -1 3431041 G A 3431041 3431041 + Variant 406235 RCV000473925 SCV000544786 391207 PRDM16 NM_022114.3:c.3454G>A NP_071397.3:p.Ala1152Thr NM_022114.3:c.3454G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 16, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-08-16 1 0 -1 3432065 A T 3432065 3432065 + Variant 241431 RCV000234393 SCV000290656 238279 PRDM16 NM_022114.3:c.3621A>T NP_071397.3:p.Glu1207Asp NM_022114.3:c.3621A>T:missense variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Feb 24, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-02-24 1 0 -1 3432131 T C 3432131 3432131 + Variant 227037 RCV000219826 SCV000269735;SCV000533646 228467 PRDM16 NM_022114.3:c.3687T>C NP_071397.3:p.Ala1229= NM_022114.3:c.3687T>C:synonymous variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Nov 11, 2016 Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx not specified;Not specified;not specified 24033266 germline MedGen:CN169374 2014-11-24;2016-11-11 2 0 -1 3432151 G A 3432151 3432151 + Variant 390334 RCV000438994 SCV000533136 365138 PRDM16 NM_022114.3:c.3696+11G>A NM_022114.3:c.3696+11G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 25, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-25 1 0 -1 3433730 C T 3433730 3433730 + Variant 413860 RCV000456779 SCV000556960 391209 PRDM16 NM_022114.3:c.3750C>T NP_071397.3:p.Ser1250= NM_022114.3:c.3750C>T:synonymous variant;NM_199454.2:c.3697-4C>T:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Nov 03, 2016 Invitae, Invitae, Left ventricular noncompaction 8 germline Genetics Home Reference:left-ventricular-noncompaction;MedGen:C3809288;OMIM:615373;Orphanet:154;Orphanet:54260 2016-11-03 1 0 -1 3433813 G A 3433813 3433813 + Variant 389898 RCV000440648 SCV000532578 365038 PRDM16 NM_022114.3:c.*2G>A Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Oct 12, 2016 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2016-10-12 1 0 -1 3816372 T C 3816372 3816372 - Variant 221277 RCV000207283 SCV000262599 222988 CEP104 NM_014704.3:c.2572-2A>G NM_014704.3:c.2572-2A>G:splice acceptor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 02, 2016 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 0 0 -1 3835079 T TA 3835081 3835082 - Variant 221275 RCV000207071 SCV000262597 222986 CEP104 NM_014704.3:c.1328_1329insT NP_055519.1:p.Tyr444Leufs NM_014704.3:c.1328_1329insT:frameshift variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 02, 2016 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 0 0 -1 3839606 A G 3839606 3839606 - Variant 221274 RCV000207253 SCV000262596 222985 CEP104 NM_014704.3:c.735+2T>C NM_014704.3:c.735+2T>C:splice donor variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 02, 2016 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546;7 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 0 0 -1 3844977 G A 3844977 3844977 - Variant 221276 RCV000207197 SCV000262598 222987 CEP104 NM_014704.3:c.496C>T NP_055519.1:p.Arg166Ter NM_014704.3:c.496C>T:nonsense Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 02, 2016 OMIM OMIM Joubert syndrome 25;JOUBERT SYNDROME 25 20301500;26477546 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2016-02-02 0 0 -1 3852358 TC T 3852359 3852359 - Variant 434718 RCV000501850 SCV000594034 427813 CEP104 NM_014704.3:c.49delG NP_055519.1:p.Asp17Thrfs NM_014704.3:c.49delG:frameshift variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter Mar 29, 2017 Genetic Services Laboratory, University of Chicago Genetic Services Laboratory, University of Chicago Joubert syndrome 25;Joubert syndrome 25 20301500;25741868 germline GeneReviews:NBK1325;MedGen:C4084842;OMIM:616781;Orphanet:475 2017-03-29 1 0 -1 5862951 A C 5862951 5862951 - Variant 297781 RCV000273736;RCV000332696 SCV000358382;SCV000358383 283011 NPHP4 NM_015102.4:c.*314T>G NM_015102.4:c.*314T>G:3 prime UTR variant;NR_111987.1:n.5410T>G:non-coding transcript variant Likely benign likely benign 0 0 0 2 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5863137 T G 5863137 5863137 - Variant 297782 RCV000260041;RCV000389549 SCV000358385;SCV000358384 281526 NPHP4 NM_015102.4:c.*128A>C NM_015102.4:c.*128A>C:3 prime UTR variant;NR_111987.1:n.5224A>C:non-coding transcript variant Likely benign likely benign 0 0 0 2 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5863239 G A 5863239 5863239 - Variant 297783 RCV000317634;RCV000374332 SCV000358386;SCV000358387 280972 NPHP4 NM_015102.4:c.*26C>T NM_015102.4:c.*26C>T:3 prime UTR variant;NR_111987.1:n.5122C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5863309 C T 5863309 5863309 - Variant 297784 RCV000282410;RCV000339705 SCV000358388;SCV000358389;SCV000556435 282746 NPHP4 NM_015102.4:c.4237G>A NP_055917.1:p.Asp1413Asn NM_015102.4:c.4237G>A:missense variant;NR_111987.1:n.5052G>A:non-coding transcript variant Conflicting interpretations of pathogenicity uncertain significance;benign 0 0 2 0 1 criteria provided, conflicting interpretations criteria provided, single submitter Oct 05, 2016 Illumina Clinical Services Laboratory,Illumina;Invitae, Illumina Clinical Services Laboratory,Illumina;Invitae, Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14;2016-10-05 1 1 -1 5863367 A T 5863367 5863367 - Variant 95686 RCV000081719;RCV000476917 SCV000113650;SCV000544234 101583 NPHP4 NM_015102.4:c.4179T>A NP_055917.1:p.Phe1393Leu NM_015102.4:c.4179T>A:missense variant;NR_111987.1:n.4994T>A:non-coding transcript variant Conflicting interpretations of pathogenicity benign;uncertain significance 0 0 1 0 1 criteria provided, conflicting interpretations criteria provided, single submitter Apr 11, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, not specified;Nephronophthisis 23757202;0;2;27004616;27336129;95686 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2013-02-22;2016-04-11 1 1 -1 5863401 C T 5863401 5863401 - Variant 196631 RCV000177474 SCV000229335 193792 NPHP4 NM_015102.4:c.4145G>A NP_055917.1:p.Gly1382Glu NM_015102.4:c.4145G>A:missense variant;NR_111987.1:n.4960G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 11, 2014 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2014-07-11 1 0 -1 5863403 G A 5863403 5863403 - Variant 288025 RCV000266655 SCV000342005 272262 NPHP4 NM_015102.4:c.4143C>T NP_055917.1:p.Val1381= NM_015102.4:c.4143C>T:synonymous variant;NR_111987.1:n.4958C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 12, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-05-12 1 0 -1 5863416 G A 5863416 5863416 - Variant 260560 RCV000246011;RCV000286079;RCV000377961 SCV000312395;SCV000358391;SCV000358390 249993 NPHP4 NM_015102.4:c.4141-11C>T NM_015102.4:c.4141-11C>T:intron variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 2 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 PreventionGenetics;Illumina Clinical Services Laboratory,Illumina PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 25741868;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 0000-00-00;2016-06-14 1 1 -1 5863916 G A 5863916 5863916 - Variant 215887 RCV000198249;RCV000407300 SCV000358392;SCV000253534;SCV000358393 212105 NPHP4 NM_015102.4:c.4114C>T NP_055917.1:p.Leu1372= NM_015102.4:c.4114C>T:synonymous variant;NR_111987.1:n.4929C>T:non-coding transcript variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 2 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 Invitae,;Illumina Clinical Services Laboratory,Illumina Invitae,;Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2015-08-31;2016-06-14 1 1 -1 5863955 G A 5863955 5863955 - Variant 190975 RCV000171146;RCV000308383;RCV000346948 SCV000221342;SCV000358394;SCV000358395 188781 NPHP4 NM_015102.4:c.4075C>T NP_055917.1:p.Arg1359Trp NM_015102.4:c.4075C>T:missense variant;NR_111987.1:n.4890C>T:non-coding transcript variant Conflicting interpretations of pathogenicity likely pathogenic;uncertain significance 0 1 2 0 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;Illumina Clinical Services Laboratory,Illumina Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre;Illumina Clinical Services Laboratory,Illumina not provided;Not provided;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 25741868;27336129 germline MedGen:CN221809;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 0000-00-00;2016-06-14 1 1 -1 5863996 C T 5863996 5863996 - Variant 291157 RCV000312005;RCV000391142;RCV000407270 SCV000358397;SCV000345863;SCV000358396 275394 NPHP4 NM_015102.4:c.4034G>A NP_055917.1:p.Gly1345Asp NM_015102.4:c.4034G>A:missense variant;NR_111987.1:n.4849G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 08, 2016 Illumina Clinical Services Laboratory,Illumina;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Illumina Clinical Services Laboratory,Illumina;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Nephronophthisis;not specified;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;MedGen:CN169374;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14;2016-09-08 2 0 -1 5864350 C T 5864350 5864350 - Variant 215886 RCV000196648 SCV000253533 212106 NPHP4 NM_015102.4:c.3984G>A NP_055917.1:p.Pro1328= NM_015102.4:c.3984G>A:synonymous variant;NR_111987.1:n.4799G>A:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Mar 16, 2015 Invitae, Invitae, Nephronophthisis;Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2015-03-16 1 0 -1 5864370 A C 5864370 5864370 - Variant 297785 RCV000276833;RCV000369051 SCV000358399;SCV000358398 282749 NPHP4 NM_015102.4:c.3964T>G NP_055917.1:p.Cys1322Gly NM_015102.4:c.3964T>G:missense variant;NR_111987.1:n.4779T>G:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5864374 G A 5864374 5864374 - Variant 282577 RCV000315514;RCV000353114;RCV000353952 SCV000358400;SCV000334112;SCV000358401 266814 NPHP4 NM_015102.4:c.3960C>T NP_055917.1:p.Leu1320= NM_015102.4:c.3960C>T:synonymous variant;NR_111987.1:n.4775C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Illumina Clinical Services Laboratory,Illumina;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Nephronophthisis;not specified;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;MedGen:CN169374;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14;2015-08-21 2 0 -1 5864407 G A 5864407 5864407 - Variant 196137 RCV000176883 SCV000228641 193298 NPHP4 NM_015102.4:c.3927C>T NP_055917.1:p.Asp1309= NM_015102.4:c.3927C>T:synonymous variant;NR_111987.1:n.4742C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Apr 23, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-04-23 1 0 -1 5864423 T C 5864423 5864423 - Variant 196138 RCV000176884 SCV000228642 193299 NPHP4 NM_015102.4:c.3911A>G NP_055917.1:p.His1304Arg NM_015102.4:c.3911A>G:missense variant;NR_111987.1:n.4726A>G:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jul 26, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-07-26 1 0 -1 5864458 G A 5864458 5864458 - Variant 95685 RCV000081718;RCV000205951;RCV000261468 SCV000113649;SCV000312394;SCV000358403;SCV000261008;SCV000358402 101582 NPHP4 NM_015102.4:c.3876C>T NP_055917.1:p.Gly1292= NM_015102.4:c.3876C>T:synonymous variant;NR_111987.1:n.4691C>T:non-coding transcript variant Conflicting interpretations of pathogenicity benign;uncertain significance 0 0 2 0 3 criteria provided, conflicting interpretations criteria provided, single submitter Sep 09, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae,;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Invitae,;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 23757202;25741868;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2013-04-11;0000-00-00;2016-09-09;2016-06-14 1 1 -1 5864470 G A 5864470 5864470 - Variant 297786 RCV000264957;RCV000375871 SCV000358405;SCV000358404 280973 NPHP4 NM_015102.4:c.3864C>T NP_055917.1:p.Asp1288= NM_015102.4:c.3864C>T:synonymous variant;NR_111987.1:n.4679C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5864481 C G 5864481 5864481 - Variant 432503 RCV000497853 SCV000590236 425380 NPHP4 NM_015102.4:c.3853G>C NP_055917.1:p.Gly1285Arg NM_015102.4:c.3853G>C:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 08, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-06-08 1 0 -1 5864483 C T 5864483 5864483 - Variant 286996 RCV000395711;RCV000477226 SCV000340619;SCV000556430 271233 NPHP4 NM_015102.4:c.3851G>A NP_055917.1:p.Arg1284His NM_015102.4:c.3851G>A:missense variant;NR_111987.1:n.4666G>A:non-coding transcript variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Sep 20, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-04-23;2016-09-20 1 1 -1 5864491 C A 5864491 5864491 - Variant 167370 RCV000153582 SCV000203120 177882 NPHP4 NM_015102.4:c.3843G>T NP_055917.1:p.Leu1281= NM_015102.4:c.3843G>T:synonymous variant;NR_111987.1:n.4658G>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-11 1 0 -1 5864497 G A 5864497 5864497 - Variant 167371 RCV000153583;RCV000199892 SCV000203121;SCV000253532 177883 NPHP4 NM_015102.4:c.3837C>T NP_055917.1:p.Phe1279= NM_015102.4:c.3837C>T:synonymous variant;NR_111987.1:n.4652C>T:non-coding transcript variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14;2015-01-18 1 1 -1 5865141 C T 5865141 5865141 - Variant 287096 RCV000278432;RCV000322356;RCV000379124 SCV000340760;SCV000358406;SCV000358407 271333 NPHP4 NM_015102.4:c.3777G>A NP_055917.1:p.Arg1259= NM_015102.4:c.3777G>A:synonymous variant;NR_111987.1:n.4592G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 3 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina not specified;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-07;2016-06-14 2 0 -1 5865156 C A 5865156 5865156 - Variant 297787 RCV000287037;RCV000344394 SCV000358408;SCV000358409 281527 NPHP4 NM_015102.4:c.3762G>T NP_055917.1:p.Gly1254= NM_015102.4:c.3762G>T:synonymous variant;NR_111987.1:n.4577G>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5865160 C T 5865160 5865160 - Variant 297788 RCV000290652;RCV000382692 SCV000358411;SCV000358410 281535 NPHP4 NM_015102.4:c.3758G>A NP_055917.1:p.Arg1253Gln NM_015102.4:c.3758G>A:missense variant;NR_111987.1:n.4573G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5865161 G A 5865161 5865161 - Variant 286539 RCV000310947 SCV000340019 270776 NPHP4 NM_015102.4:c.3757C>T NP_055917.1:p.Arg1253Trp NM_015102.4:c.3757C>T:missense variant;NR_111987.1:n.4572C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 25, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-02-25 1 0 -1 5865164 G A 5865164 5865164 - Variant 95684 RCV000081717 SCV000113648 101581 NPHP4 NM_015102.4:c.3754C>T NP_055917.1:p.Leu1252Phe NM_015102.4:c.3754C>T:missense variant;NR_111987.1:n.4569C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jan 09, 2013 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified 23757202 germline MedGen:CN169374 2013-01-09 1 0 -1 5865195 G A 5865195 5865195 - Variant 297789 RCV000347891;RCV000401689 SCV000358412;SCV000358413 283015 NPHP4 NM_015102.4:c.3723C>T NP_055917.1:p.Val1241= NM_015102.4:c.3723C>T:synonymous variant;NR_111987.1:n.4538C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5865213 G A 5865213 5865213 - Variant 297790 RCV000312869;RCV000352075 SCV000358414;SCV000358415 281536 NPHP4 NM_015102.4:c.3705C>T NP_055917.1:p.Arg1235= NM_015102.4:c.3705C>T:synonymous variant;NR_111987.1:n.4520C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5865215 G A 5865215 5865215 - Variant 297791 RCV000298425;RCV000407610 SCV000358417;SCV000358416 282757 NPHP4 NM_015102.4:c.3703C>T NP_055917.1:p.Arg1235Cys NM_015102.4:c.3703C>T:missense variant;NR_111987.1:n.4518C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5865244 G A 5865244 5865244 - Variant 196032 RCV000176754;RCV000231868 SCV000228463;SCV000290057 193193 NPHP4 NM_015102.4:c.3674C>T NP_055917.1:p.Thr1225Met NM_015102.4:c.3674C>T:missense variant;NR_111987.1:n.4489C>T:non-coding transcript variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 20, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2014-10-07;2016-01-20 2 0 -1 5865288 G A 5865288 5865288 - Variant 297792 RCV000263212;RCV000355588 SCV000358419;SCV000358418 283017 NPHP4 NM_015102.4:c.3645-15C>T NM_015102.4:c.3645-15C>T:intron variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5865311 G A 5865311 5865311 - Variant 260559 RCV000248599 SCV000312393 249994 NPHP4 NM_015102.4:c.3645-38C>T NM_015102.4:c.3645-38C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5866405 C T 5866405 5866405 - Variant 297793 RCV000302018;RCV000359177 SCV000358420;SCV000358421 283018 NPHP4 NM_015102.4:c.3612G>A NP_055917.1:p.Pro1204= NM_015102.4:c.3612G>A:synonymous variant;NR_111987.1:n.4427G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5866442 C T 5866442 5866442 - Variant 195976 RCV000176676 SCV000228367 193137 NPHP4 NM_015102.4:c.3575G>A NP_055917.1:p.Arg1192Gln NM_015102.4:c.3575G>A:missense variant;NR_111987.1:n.4390G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 17, 2014 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2014-10-17 1 0 -1 5866443 G A 5866443 5866443 - Variant 188389 RCV000168448;RCV000271940 SCV000219145;SCV000343499 185958 NPHP4 NM_015102.4:c.3574C>T NP_055917.1:p.Arg1192Trp NM_015102.4:c.3574C>T:missense variant;NR_111987.1:n.4389C>T:non-coding transcript variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 1 1 0 criteria provided, conflicting interpretations no assertion criteria provided;criteria provided, single submitter Jun 30, 2016 Invitae,;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Invitae,;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Nephronophthisis;not specified 0;15776426;22550138;27336129;3574;4;26346198 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;MedGen:CN169374 2014-10-07;2016-06-30 1 1 -1 5866447 T C 5866447 5866447 - Variant 95683 RCV000081716;RCV000266333;RCV000324301 SCV000312392;SCV000113647;SCV000358422;SCV000358423 101580 NPHP4 NM_015102.4:c.3570A>G NP_055917.1:p.Glu1190= NM_015102.4:c.3570A>G:synonymous variant;NR_111987.1:n.4385A>G:non-coding transcript variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 23757202;25741868;27336129 germline MedGen:CN169374;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2013-10-01;0000-00-00;2016-06-14 2 0 -1 5866476 AG A 5866477 5866477 - Variant 260558 RCV000253685 SCV000312391 249995 NPHP4 NM_015102.4:c.3559-19delC NM_015102.4:c.3559-19delC:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5867062 C T 5867062 5867062 - Variant 426852 RCV000489565 SCV000577407 414804 NPHP4 NM_015102.4:c.3526G>A NP_055917.1:p.Asp1176Asn NM_015102.4:c.3526G>A:missense variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 30, 2017 GeneDx GeneDx not specified;not specified germline MedGen:CN169374 2017-03-30 1 0 -1 5867070 C T 5867070 5867070 - Variant 297794 RCV000270302;RCV000362620 SCV000358425;SCV000358424 283019 NPHP4 NM_015102.4:c.3518G>A NP_055917.1:p.Arg1173His NM_015102.4:c.3518G>A:missense variant;NR_111987.1:n.4333G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5867109 G A 5867109 5867109 - Variant 220304 RCV000205285;RCV000248751;RCV000384533 SCV000260746;SCV000358426;SCV000312390;SCV000358427 221109 NPHP4 NM_015102.4:c.3479C>T NP_055917.1:p.Pro1160Leu NM_015102.4:c.3479C>T:missense variant;NR_111987.1:n.4294C>T:non-coding transcript variant Conflicting interpretations of pathogenicity benign;uncertain significance 0 0 2 0 2 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 Invitae,;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics Invitae,;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics Nephronophthisis;not specified;NOT SPECIFIED;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129;25741868 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;MedGen:CN169374;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-02-01;2016-06-14;0000-00-00 1 1 -1 5867131 T C 5867131 5867131 - Variant 260557 RCV000243373 SCV000312389 249996 NPHP4 NM_015102.4:c.3473-16A>G NM_015102.4:c.3473-16A>G:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5867734 A G 5867734 5867734 - Variant 260556 RCV000251356 SCV000312388 249997 NPHP4 NM_015102.4:c.3472+6T>C NM_015102.4:c.3472+6T>C:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5867758 G A 5867758 5867758 - Variant 195828 RCV000176491 SCV000228157 192989 NPHP4 NM_015102.4:c.3454C>T NP_055917.1:p.Pro1152Ser NM_015102.4:c.3454C>T:missense variant;NR_111987.1:n.4269C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2014 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2014-08-11 1 0 -1 5867767 G A 5867767 5867767 - Variant 287251 RCV000353388 SCV000340959 271488 NPHP4 NM_015102.4:c.3445C>T NP_055917.1:p.Arg1149Cys NM_015102.4:c.3445C>T:missense variant;NR_111987.1:n.4260C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 29, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-03-29 1 0 -1 5867827 C T 5867827 5867827 - Variant 289977 RCV000281891 SCV000344447 274214 NPHP4 NM_015102.4:c.3385G>A NP_055917.1:p.Val1129Met NM_015102.4:c.3385G>A:missense variant;NR_111987.1:n.4200G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 02, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-02 1 0 -1 5867883 G A 5867883 5867883 - Variant 95682 RCV000081715;RCV000292444;RCV000331197 SCV000513952;SCV000113646;SCV000556431;SCV000358428;SCV000358429 101579 NPHP4 NM_015102.4:c.3329C>T NP_055917.1:p.Ala1110Val NM_015102.4:c.3329C>T:missense variant;NR_111987.1:n.4144C>T:non-coding transcript variant Conflicting interpretations of pathogenicity uncertain significance;likely benign 0 0 4 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jul 18, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae,;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Illumina Clinical Services Laboratory,Illumina;Invitae, not specified;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 23757202;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-03-10;2016-05-19;2016-06-14;2016-07-18 1 1 -1 5873220 C T 5873220 5873220 - Variant 260555 RCV000246810 SCV000312387 249998 NPHP4 NM_015102.4:c.3315+32G>A NM_015102.4:c.3315+32G>A:intron variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5873324 C G 5873324 5873324 - Variant 95681 RCV000081714;RCV000296377;RCV000388001 SCV000113645;SCV000312386;SCV000556432;SCV000358431;SCV000358430 101578 NPHP4 NM_015102.4:c.3243G>C NP_055917.1:p.Gly1081= NM_015102.4:c.3243G>C:synonymous variant;NR_111987.1:n.4058G>C:non-coding transcript variant Conflicting interpretations of pathogenicity benign;uncertain significance 0 0 2 0 3 criteria provided, conflicting interpretations criteria provided, single submitter Dec 05, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae,;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Illumina Clinical Services Laboratory,Illumina;Invitae, not specified;NOT SPECIFIED;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 23757202;25741868;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2012-08-28;0000-00-00;2016-06-14;2016-12-05 1 1 -1 5874430 A G 5874430 5874430 - Variant 260554 RCV000252694 SCV000312385 249999 NPHP4 NM_015102.4:c.3231+41T>C NM_015102.4:c.3231+41T>C:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5874440 T C 5874440 5874440 - Variant 260553 RCV000247753 SCV000312384 250000 NPHP4 NM_015102.4:c.3231+31A>G NM_015102.4:c.3231+31A>G:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5874466 C T 5874466 5874466 - Variant 297795 RCV000335051;RCV000398811 SCV000358432;SCV000358433 283022 NPHP4 NM_015102.4:c.3231+5G>A NM_015102.4:c.3231+5G>A:intron variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5874521 C T 5874521 5874521 - Variant 167372 RCV000153584 SCV000203122 176932 NPHP4 NM_015102.4:c.3181G>A NP_055917.1:p.Val1061Ile NM_015102.4:c.3181G>A:missense variant;NR_111987.1:n.3996G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-11 1 0 -1 5874534 G A 5874534 5874534 - Variant 288722 RCV000307652 SCV000342916 272959 NPHP4 NM_015102.4:c.3168C>T NP_055917.1:p.His1056= NM_015102.4:c.3168C>T:synonymous variant;NR_111987.1:n.3983C>T:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jun 09, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-06-09 1 0 -1 5874542 G A 5874542 5874542 - Variant 190976 RCV000171147 SCV000221343 188782 NPHP4 NM_015102.4:c.3160C>T NP_055917.1:p.Arg1054Cys NM_015102.4:c.3160C>T:missense variant;NR_111987.1:n.3975C>T:non-coding transcript variant Likely pathogenic likely pathogenic 0 1 0 0 0 criteria provided, single submitter criteria provided, single submitter - Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre not provided;Not provided 25741868 germline MedGen:CN221809 0000-00-00 1 0 -1 5874552 C T 5874552 5874552 - Variant 288724 RCV000273056 SCV000342918 272961 NPHP4 NM_015102.4:c.3150G>A NP_055917.1:p.Gln1050= NM_015102.4:c.3150G>A:synonymous variant;NR_111987.1:n.3965G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 09, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-06-09 1 0 -1 5874558 G A 5874558 5874558 - Variant 240970 RCV000234198 SCV000290055 238337 NPHP4 NM_015102.4:c.3144C>T NP_055917.1:p.Ala1048= NM_015102.4:c.3144C>T:synonymous variant;NR_111987.1:n.3959C>T:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Jan 19, 2016 Invitae, Invitae, Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-01-19 1 0 -1 5874579 G A 5874579 5874579 - Variant 413603 RCV000464176 SCV000556434 391347 NPHP4 NM_015102.4:c.3123C>T NP_055917.1:p.Phe1041= NM_015102.4:c.3123C>T:synonymous variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 16, 2016 Invitae, Invitae, Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-08-16 1 0 -1 5874584 T C 5874584 5874584 - Variant 286777 RCV000366209 SCV000340338 271014 NPHP4 NM_015102.4:c.3118A>G NP_055917.1:p.Met1040Val NM_015102.4:c.3118A>G:missense variant;NR_111987.1:n.3933A>G:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 14, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-03-14 1 0 -1 5874592 T G 5874592 5874592 - Variant 291100 RCV000373342 SCV000345797 275337 NPHP4 NM_015102.4:c.3110A>C NP_055917.1:p.Glu1037Ala NM_015102.4:c.3110A>C:missense variant;NR_111987.1:n.3925A>C:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 02, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-02 1 0 -1 5874621 C T 5874621 5874621 - Variant 260552 RCV000243174 SCV000312383 250001 NPHP4 NM_015102.4:c.3081G>A NP_055917.1:p.Lys1027= NM_015102.4:c.3081G>A:synonymous variant;NR_111987.1:n.3896G>A:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5874624 G A 5874624 5874624 - Variant 297796 RCV000280994;RCV000338607 SCV000358434;SCV000358435 281550 NPHP4 NM_015102.4:c.3078C>T NP_055917.1:p.Phe1026= NM_015102.4:c.3078C>T:synonymous variant;NR_111987.1:n.3893C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5874629 C G 5874629 5874629 - Variant 297797 RCV000303466;RCV000392493 SCV000358437;SCV000358436 283024 NPHP4 NM_015102.4:c.3073G>C NP_055917.1:p.Asp1025His NM_015102.4:c.3073G>C:missense variant;NR_111987.1:n.3888G>C:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5874650 C T 5874650 5874650 - Variant 220869 RCV000206676 SCV000261758 221110 NPHP4 NM_015102.4:c.3052G>A NP_055917.1:p.Val1018Met NM_015102.4:c.3052G>A:missense variant;NR_111987.1:n.3867G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Oct 29, 2015 Invitae, Invitae, Nephronophthisis 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2015-10-29 1 0 -1 5874656 C T 5874656 5874656 - Variant 297798 RCV000360589;RCV000392484 SCV000358438;SCV000358439 281551 NPHP4 NM_015102.4:c.3046G>A NP_055917.1:p.Val1016Ile NM_015102.4:c.3046G>A:missense variant;NR_111987.1:n.3861G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5874661 G T 5874661 5874661 - Variant 297799 RCV000307136;RCV000364227 SCV000358440;SCV000358441 280976 NPHP4 NM_015102.4:c.3045-4C>A NM_015102.4:c.3045-4C>A:intron variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5874882 G A 5874882 5874882 - Variant 195613 RCV000176220 SCV000227837;SCV000312382 192774 NPHP4 NM_015102.4:c.3036C>T NP_055917.1:p.Pro1012= NM_015102.4:c.3036C>T:synonymous variant;NR_111987.1:n.3851C>T:non-coding transcript variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Mar 02, 2015 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics not specified;not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 2015-03-02;0000-00-00 2 0 -1 5874890 C T 5874890 5874890 - Variant 195609 RCV000176217 SCV000227834 192770 NPHP4 NM_015102.4:c.3028G>A NP_055917.1:p.Asp1010Asn NM_015102.4:c.3028G>A:missense variant;NR_111987.1:n.3843G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 09, 2014 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2014-07-09 1 0 -1 5874891 G A 5874891 5874891 - Variant 297800 RCV000272007;RCV000329409 SCV000358442;SCV000358443 280977 NPHP4 NM_015102.4:c.3027C>T NP_055917.1:p.Ile1009= NM_015102.4:c.3027C>T:synonymous variant;NR_111987.1:n.3842C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5874906 C T 5874906 5874906 - Variant 291268 RCV000379083 SCV000345986 275505 NPHP4 NM_015102.4:c.3012G>A NP_055917.1:p.Thr1004= NM_015102.4:c.3012G>A:synonymous variant;NR_111987.1:n.3827G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 21, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-21 1 0 -1 5874946 A G 5874946 5874946 - Variant 3402 RCV000003571 SCV000023729 18441 NPHP4 NM_015102.4:c.2972T>C NP_055917.1:p.Phe991Ser NM_015102.4:c.2972T>C:missense variant;NR_111987.1:n.3787T>C:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 01, 2002 OMIM OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321;27336129 germline GeneReviews:NBK368475;GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;MedGen:C1847013;OMIM:606966;Orphanet:655 2002-10-01 0 0 -1 5874953 C T 5874953 5874953 - Variant 195608 RCV000176216;RCV000261619;RCV000367814 SCV000581752;SCV000227833;SCV000358445;SCV000358444 192769 NPHP4 NM_015102.4:c.2965G>A NP_055917.1:p.Glu989Lys NM_015102.4:c.2965G>A:missense variant;NR_111987.1:n.3780G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 4 0 0 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jan 17, 2017 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Illumina Clinical Services Laboratory,Illumina not specified;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-07-07;2017-01-17;2016-06-14 2 0 -1 5874954 G A 5874954 5874954 - Variant 290383 RCV000351809 SCV000344929 274620 NPHP4 NM_015102.4:c.2964C>T NP_055917.1:p.Ala988= NM_015102.4:c.2964C>T:synonymous variant;NR_111987.1:n.3779C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 11, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-11 1 0 -1 5874959 C T 5874959 5874959 - Variant 286338 RCV000345507 SCV000339725 270575 NPHP4 NM_015102.4:c.2959G>A NP_055917.1:p.Val987Ile NM_015102.4:c.2959G>A:missense variant;NR_111987.1:n.3774G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 25, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-02-25 1 0 -1 5874973 T TGGAGC 5874974 5874978 - Variant 95680 RCV000081713 SCV000113644 101577 NPHP4 NM_015102.4:c.2940_2944dupGCTCC NP_055917.1:p.His982Argfs NM_015102.4:c.2940_2944dupGCTCC:frameshift variant;NR_111987.1:n.3755_3759dupGCTCC:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Aug 30, 2013 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not provided;not provided 23757202 germline MedGen:CN221809 2013-08-30 0 0 -1 5874979 G A 5874979 5874979 - Variant 289035 RCV000400326 SCV000343307 273272 NPHP4 NM_015102.4:c.2939C>T NP_055917.1:p.Thr980Met NM_015102.4:c.2939C>T:missense variant;NR_111987.1:n.3754C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 21, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-06-21 1 0 -1 5875004 T C 5875004 5875004 - Variant 195610 RCV000176218;RCV000224574 SCV000227835;SCV000281307 192771 NPHP4 NM_015102.4:c.2914A>G NP_055917.1:p.Ser972Gly NM_015102.4:c.2914A>G:missense variant;NR_111987.1:n.3729A>G:non-coding transcript variant Benign/Likely benign benign;likely benign 0 0 0 1 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter May 22, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics not specified;not provided 25741868 germline MedGen:CN169374;MedGen:CN221809 2015-01-13;2015-05-22-05:00 2 0 -1 5875016 C T 5875016 5875016 - Variant 291052 RCV000279729 SCV000345735 275289 NPHP4 NM_015102.4:c.2902G>A NP_055917.1:p.Ala968Thr NM_015102.4:c.2902G>A:missense variant;NR_111987.1:n.3717G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 20, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-20 1 0 -1 5875026 G A 5875026 5875026 - Variant 195614 RCV000176221 SCV000227838 192775 NPHP4 NM_015102.4:c.2892C>T NP_055917.1:p.Ala964= NM_015102.4:c.2892C>T:synonymous variant;NR_111987.1:n.3707C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Feb 19, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-02-19 1 0 -1 5875036 C T 5875036 5875036 - Variant 167373 RCV000153585;RCV000206662 SCV000203123;SCV000260286 177195 NPHP4 NM_015102.4:c.2882G>A NP_055917.1:p.Arg961His NM_015102.4:c.2882G>A:missense variant;NR_111987.1:n.3697G>A:non-coding transcript variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Aug 28, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, not specified;Nephronophthisis 27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2014-03-11;2015-08-28 2 0 -1 5875042 C T 5875042 5875042 - Variant 240969 RCV000231338;RCV000389915 SCV000290054;SCV000358446;SCV000358447 238338 NPHP4 NM_015102.4:c.2876G>A NP_055917.1:p.Arg959Gln NM_015102.4:c.2876G>A:missense variant;NR_111987.1:n.3691G>A:non-coding transcript variant Benign/Likely benign benign;likely benign 0 0 0 2 1 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 Invitae,;Illumina Clinical Services Laboratory,Illumina Invitae,;Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2015-12-16;2016-06-14 2 0 -1 5875050 G A 5875050 5875050 - Variant 167374 RCV000153586;RCV000295648;RCV000331805 SCV000312381;SCV000203124;SCV000358448;SCV000358449 177884 NPHP4 NM_015102.4:c.2868C>T NP_055917.1:p.Ala956= NM_015102.4:c.2868C>T:synonymous variant;NR_111987.1:n.3683C>T:non-coding transcript variant Benign/Likely benign benign;likely benign 0 0 0 2 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 25741868;27336129 germline MedGen:CN169374;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2014-01-30;0000-00-00;2016-06-14 2 0 -1 5875069 C T 5875069 5875069 - Variant 291277 RCV000314498 SCV000345996 275514 NPHP4 NM_015102.4:c.2849G>A NP_055917.1:p.Arg950Gln NM_015102.4:c.2849G>A:missense variant;NR_111987.1:n.3664G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 23, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-23 1 0 -1 5875098 C T 5875098 5875098 - Variant 260551 RCV000242359;RCV000291890;RCV000386368 SCV000312380;SCV000358451;SCV000358450 250002 NPHP4 NM_015102.4:c.2820G>A NP_055917.1:p.Ala940= NM_015102.4:c.2820G>A:synonymous variant;NR_111987.1:n.3635G>A:non-coding transcript variant Conflicting interpretations of pathogenicity likely benign;uncertain significance 0 0 2 1 0 criteria provided, conflicting interpretations criteria provided, single submitter Jun 14, 2016 PreventionGenetics;Illumina Clinical Services Laboratory,Illumina PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 25741868;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 0000-00-00;2016-06-14 1 1 -1 5875120 G A 5875120 5875120 - Variant 195612 RCV000176219 SCV000227836 192773 NPHP4 NM_015102.4:c.2818-20C>T NM_015102.4:c.2818-20C>T:intron variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 21, 2014 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2014-11-21 1 0 -1 5877098 C T 5877098 5877098 - Variant 260550 RCV000250885 SCV000331023;SCV000312379 250003 NPHP4 NM_015102.4:c.2812G>A NP_055917.1:p.Val938Met NM_015102.4:c.2812G>A:missense variant;NR_111987.1:n.3364G>A:non-coding transcript variant Benign benign;benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter;criteria provided, single submitter Dec 09, 2015 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;NOT SPECIFIED;not specified 25741868 germline MedGen:CN169374 0000-00-00;2015-12-09 2 0 -1 5877102 C T 5877102 5877102 - Variant 240968 RCV000227512;RCV000245940;RCV000401361 SCV000358452;SCV000290053;SCV000312378;SCV000331079;SCV000358453 238339 NPHP4 NM_015102.4:c.2808G>A NP_055917.1:p.Thr936= NM_015102.4:c.2808G>A:synonymous variant;NR_111987.1:n.3360G>A:non-coding transcript variant Benign/Likely benign benign;likely benign 0 0 0 2 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 Invitae,;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Invitae,;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics Nephronophthisis;not specified;NOT SPECIFIED;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129;25741868 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;MedGen:CN169374;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-01-16;2016-06-14;0000-00-00;2015-07-09 2 0 -1 5877103 G A 5877103 5877103 - Variant 284756 RCV000398485 SCV000337499 268993 NPHP4 NM_015102.4:c.2807C>T NP_055917.1:p.Thr936Met NM_015102.4:c.2807C>T:missense variant;NR_111987.1:n.3359C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Dec 17, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-12-17 1 0 -1 5877103 G T 5877103 5877103 - Variant 167376 RCV000153588 SCV000203126 177064 NPHP4 NM_015102.4:c.2807C>A NP_055917.1:p.Thr936Lys NM_015102.4:c.2807C>A:missense variant;NR_111987.1:n.3359C>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jul 25, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-07-25 1 0 -1 5877108 G A 5877108 5877108 - Variant 95679 RCV000081712;RCV000288432;RCV000343148 SCV000113643;SCV000312377;SCV000358454;SCV000358455 101576 NPHP4 NM_015102.4:c.2802C>T NP_055917.1:p.Arg934= NM_015102.4:c.2802C>T:synonymous variant;NR_111987.1:n.3354C>T:non-coding transcript variant Benign benign 0 0 0 0 4 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 23757202;25741868;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2013-10-04;2016-01-27;2016-06-14 2 0 -1 5877186 C T 5877186 5877186 - Variant 95678 RCV000081711;RCV000303360;RCV000399353 SCV000312374;SCV000113642;SCV000358457;SCV000556437;SCV000358456 101575 NPHP4 NM_015102.4:c.2724G>A NP_055917.1:p.Ser908= NM_015102.4:c.2724G>A:synonymous variant;NR_111987.1:n.3276G>A:non-coding transcript variant Benign/Likely benign benign;likely benign 0 0 0 2 3 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Oct 05, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae,;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Illumina Clinical Services Laboratory,Illumina;Invitae, not specified;NOT SPECIFIED;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 23757202;25741868;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2013-10-04;0000-00-00;2016-06-14;2016-10-05 2 0 -1 5877200 C T 5877200 5877200 - Variant 297801 RCV000358103;RCV000407118 SCV000358458;SCV000358459 282760 NPHP4 NM_015102.4:c.2710G>A NP_055917.1:p.Val904Ile NM_015102.4:c.2710G>A:missense variant;NR_111987.1:n.3262G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5877209 G A 5877209 5877209 - Variant 297802 RCV000300044;RCV000354793 SCV000358460;SCV000358461 281556 NPHP4 NM_015102.4:c.2701C>T NP_055917.1:p.Pro901Ser NM_015102.4:c.2701C>T:missense variant;NR_111987.1:n.3253C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5877223 C T 5877223 5877223 - Variant 286862 RCV000301378 SCV000340440 271099 NPHP4 NM_015102.4:c.2687G>A NP_055917.1:p.Arg896Gln NM_015102.4:c.2687G>A:missense variant;NR_111987.1:n.3239G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 10, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-03-10 1 0 -1 5877257 T G 5877257 5877257 - Variant 291103 RCV000284900 SCV000345801 275340 NPHP4 NM_015102.4:c.2653A>C NP_055917.1:p.Ser885Arg NM_015102.4:c.2653A>C:missense variant;NR_111987.1:n.3205A>C:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 02, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-02 1 0 -1 5877257 TGTCCAC GGTCCAT 5877257 5877263 - Variant 291179 RCV000393877 SCV000345886 275416 NPHP4 NM_015102.4:c.2647_2653delGTGGACAinsATGGACC NP_055917.1:p.Val883_Ser885delinsMetAspArg NM_015102.4:c.2647_2653delGTGGACAinsATGGACC:missense variant;NR_111987.1:n.3199_3205delGTGGACAinsATGGACC:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 07, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-07 1 0 -1 5877263 C T 5877263 5877263 - Variant 291099 RCV000316330 SCV000345796 275336 NPHP4 NM_015102.4:c.2647G>A NP_055917.1:p.Val883Met NM_015102.4:c.2647G>A:missense variant;NR_111987.1:n.3199G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Sep 02, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-09-02 1 0 -1 5877267 C T 5877267 5877267 - Variant 95677 RCV000081710;RCV000260042;RCV000314742 SCV000113641;SCV000312373;SCV000358462;SCV000358463 101574 NPHP4 NM_015102.4:c.2643G>A NP_055917.1:p.Ala881= NM_015102.4:c.2643G>A:synonymous variant;NR_111987.1:n.3195G>A:non-coding transcript variant Benign/Likely benign benign;likely benign 0 0 0 2 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Jun 14, 2016 PreventionGenetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;PreventionGenetics;Illumina Clinical Services Laboratory,Illumina not specified;NOT SPECIFIED;Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 23757202;25741868;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2013-10-01;0000-00-00;2016-06-14 2 0 -1 5877268 G A 5877268 5877268 - Variant 297803 RCV000274871;RCV000369396 SCV000358465;SCV000358464 282761 NPHP4 NM_015102.4:c.2642C>T NP_055917.1:p.Ala881Val NM_015102.4:c.2642C>T:missense variant;NR_111987.1:n.3194C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5877331 C T 5877331 5877331 - Variant 260547 RCV000243253 SCV000312372 250004 NPHP4 NM_015102.4:c.2612-33G>A NM_015102.4:c.2612-33G>A:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5880156 G A 5880156 5880156 - Variant 288104 RCV000318135 SCV000342109 272341 NPHP4 NM_015102.4:c.2569C>T NP_055917.1:p.Arg857Cys NM_015102.4:c.2569C>T:missense variant;NR_111987.1:n.2834C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter May 13, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-05-13 1 0 -1 5880168 C A 5880168 5880168 - Variant 297804 RCV000330012;RCV000384597 SCV000358466;SCV000358467 282762 NPHP4 NM_015102.4:c.2557G>T NP_055917.1:p.Asp853Tyr NM_015102.4:c.2557G>T:missense variant;NR_111987.1:n.2822G>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5880182 C T 5880182 5880182 - Variant 95676 RCV000081709 SCV000113640 101573 NPHP4 NM_015102.4:c.2543G>A NP_055917.1:p.Arg848Gln NM_015102.4:c.2543G>A:missense variant;NR_111987.1:n.2808G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 08, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified 23757202 germline MedGen:CN169374 2016-06-08 1 0 -1 5880183 G A 5880183 5880183 - Variant 95675 RCV000081708 SCV000113639 101572 NPHP4 NM_015102.4:c.2542C>T NP_055917.1:p.Arg848Trp NM_015102.4:c.2542C>T:missense variant;NR_111987.1:n.2807C>T:non-coding transcript variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter Feb 22, 2013 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified 23757202 germline MedGen:CN169374 2013-02-22 1 0 -1 5880194 G A 5880194 5880194 - Variant 297805 RCV000271097;RCV000326128 SCV000358468;SCV000358469 283025 NPHP4 NM_015102.4:c.2531C>T NP_055917.1:p.Pro844Leu NM_015102.4:c.2531C>T:missense variant;NR_111987.1:n.2796C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5880206 C T 5880206 5880206 - Variant 289888 RCV000334924 SCV000344322 274125 NPHP4 NM_015102.4:c.2519G>A NP_055917.1:p.Ser840Asn NM_015102.4:c.2519G>A:missense variant;NR_111987.1:n.2784G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Aug 02, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-02 1 0 -1 5880215 C T 5880215 5880215 - Variant 194970 RCV000175463 SCV000226945 192132 NPHP4 NM_015102.4:c.2510G>A NP_055917.1:p.Arg837Lys NM_015102.4:c.2510G>A:missense variant;NR_111987.1:n.2775G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Nov 17, 2014 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2014-11-17 1 0 -1 5887248 G A 5887248 5887248 - Variant 260546 RCV000253302 SCV000312371 250005 NPHP4 NM_015102.4:c.2485+38C>T NM_015102.4:c.2485+38C>T:intron variant Benign benign 0 0 0 0 1 criteria provided, single submitter criteria provided, single submitter - PreventionGenetics PreventionGenetics not specified;NOT SPECIFIED 25741868 germline MedGen:CN169374 0000-00-00 1 0 -1 5887306 T C 5887306 5887306 - Variant 194865 RCV000175333 SCV000226804 192028 NPHP4 NM_015102.4:c.2465A>G NP_055917.1:p.His822Arg NM_015102.4:c.2465A>G:missense variant;NR_111987.1:n.2730A>G:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Jun 12, 2014 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2014-06-12 1 0 -1 5887312 C T 5887312 5887312 - Variant 297806 RCV000286794;RCV000380703 SCV000358471;SCV000358470 281559 NPHP4 NM_015102.4:c.2459G>A NP_055917.1:p.Arg820Gln NM_015102.4:c.2459G>A:missense variant;NR_111987.1:n.2724G>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Renal dysplasia and retinal aplasia;Senior-Loken Syndrome;Nephronophthisis 27336129 germline Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2016-06-14 1 0 -1 5887313 G A 5887313 5887313 - Variant 287002 RCV000264657 SCV000340625 271239 NPHP4 NM_015102.4:c.2458C>T NP_055917.1:p.Arg820Trp NM_015102.4:c.2458C>T:missense variant;NR_111987.1:n.2723C>T:non-coding transcript variant Likely benign likely benign 0 0 0 1 0 criteria provided, single submitter criteria provided, single submitter Aug 25, 2016 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2016-08-25 1 0 -1 5887346 T C 5887346 5887346 - Variant 194866 RCV000175334 SCV000226805 192029 NPHP4 NM_015102.4:c.2425A>G NP_055917.1:p.Lys809Glu NM_015102.4:c.2425A>G:missense variant;NR_111987.1:n.2690A>G:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 criteria provided, single submitter criteria provided, single submitter Mar 02, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics EGL Genetic Diagnostics,Eurofins Clinical Diagnostics not specified;not specified germline MedGen:CN169374 2015-03-02 1 0 -1 5887352 G A 5887352 5887352 - Variant 297807 RCV000341820;RCV000377653 SCV000358472;SCV000358473 281564 NPHP4 NM_015102.4:c.2419C>T NP_055917.1:p.Arg807Cys NM_015102.4:c.2419C>T:missense variant;NR_111987.1:n.2684C>T:non-coding transcript variant Uncertain significance uncertain significance 0 0 2 0 0 criteria provided, single submitter criteria provided, single submitter Jun 14, 2016 Illumina Clinical Services Laboratory,Illumina Illumina Clinical Services Laboratory,Illumina Nephronophthisis;Renal dysplasia and retinal aplasia;Senior-Loken Syndrome 27336129 germline GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008;Genetic Alliance:Senior+Loken+Syndrome/6501;MedGen:CN117960;OMIM:PS266900;Office of Rare Diseases:322;SNOMED CT:236531005 2016-06-14 1 0 -1 5887394 G A 5887394 5887394 - Variant 3400 RCV000003569 SCV000023727 18439 NPHP4 NM_015102.4:c.2377C>T NP_055917.1:p.Gln793Ter NM_015102.4:c.2377C>T:nonsense;NR_111987.1:n.2642C>T:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 01, 2002 OMIM OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321;27336129 germline GeneReviews:NBK368475;GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;MedGen:C1847013;OMIM:606966;Orphanet:655 2002-10-01 0 0 -1 5887403 C A 5887403 5887403 - Variant 3399 RCV000003568 SCV000023726 18438 NPHP4 NM_015102.4:c.2368G>T NP_055917.1:p.Glu790Ter NM_015102.4:c.2368G>T:nonsense;NR_111987.1:n.2633G>T:non-coding transcript variant Pathogenic pathogenic 1 0 0 0 0 no assertion criteria provided no assertion criteria provided Oct 01, 2002 OMIM OMIM Nephronophthisis 4;NEPHRONOPHTHISIS 4 12244321;27336129 germline GeneReviews:NBK368475;GeneTests:203272;Genetic Alliance:Nephronophthisis+4/8982;MedGen:C1847013;OMIM:606966;Orphanet:655 2002-10-01 0 0 -1 5887411 A T 5887411 5887411 - Variant 156398 RCV000144480 SCV000189615 166178 NPHP4 NM_015102.4:c.2360T>A NP_055917.1:p.Val787Glu NM_015102.4:c.2360T>A:missense variant;NR_111987.1:n.2625T>A:non-coding transcript variant Uncertain significance uncertain significance 0 0 1 0 0 no assertion criteria provided no assertion criteria provided Sep 18, 2014 Molecular Diagnostics Laboratory,Seoul National University Hospital Molecular Diagnostics Laboratory,Seoul National University Hospital Leber congenital amaurosis;Leber congenital amaurosis 20301475 unknown GeneReviews:NBK1298;Genetic Alliance:Leber+congenital+amaurosis/4130;Genetics Home Reference:leber-congenital-amaurosis;MeSH:D057130;MedGen:C0339527;OMIM:204000;OMIM:PS204000;Office of Rare Diseases:634;Orphanet:ORPHA65;SNOMED CT:193413001 2014-09-18 0 0 -1 5887436 G A 5887436 5887436 - Variant 3404 RCV000003573;RCV000234814 SCV000023731;SCV000292011 18443 NPHP4 NM_015102.4:c.2335C>T NP_055917.1:p.Gln779Ter NM_015102.4:c.2335C>T:nonsense;NR_111987.1:n.2600C>T:non-coding transcript variant Pathogenic pathogenic 2 0 0 0 0 no assertion criteria provided no assertion criteria provided Feb 10, 2016 OMIM;GeneReviews OMIM;GeneReviews Senior-Loken syndrome 4;SENIOR-LOKEN SYNDROME 4;Nephronophthisis 11920287;12205563;6837691;27336129 germline Genetic Alliance:Senior-Loken+syndrome+4/9280;Genetics Home Reference:senior-loken-syndrome;MedGen:C1846979;OMIM:606996;Orphanet:3156;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2002-11-01;2016-02-10 0 0 -1 5890879 C T 5890879 5890879 - Variant 95674 RCV000081707;RCV000196064 SCV000113638;SCV000252834 101571 NPHP4 NM_015102.4:c.2293G>A NP_055917.1:p.Val765Ile NM_015102.4:c.2293G>A:missense variant;NR_111987.1:n.2558G>A:non-coding transcript variant Benign benign 0 0 0 0 2 criteria provided, multiple submitters, no conflicts criteria provided, single submitter Sep 02, 2015 EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae, not specified;Nephronophthisis 23757202;27336129 germline MedGen:CN169374;GeneReviews:NBK368475;GeneTests:72016;MedGen:C0687120;OMIM:PS256100;SNOMED CT:204958008 2012-08-28;2015-09-02 2 0 diff --git a/output/b38/single/clinvar_alleles_stats.single.b38.txt b/output/b38/single/clinvar_alleles_stats.single.b38.txt index 4921958..de267d4 100644 --- a/output/b38/single/clinvar_alleles_stats.single.b38.txt +++ b/output/b38/single/clinvar_alleles_stats.single.b38.txt @@ -1,164 +1,163 @@ Columns: 1: chrom, 2: pos, 3: ref, 4: alt, 5: start, 6: stop, 7: strand, 8: variation_type, 9: variation_id, 10: rcv, 11: scv, 12: allele_id, 13: symbol, 14: hgvs_c, 15: hgvs_p, 16: molecular_consequence, 17: clinical_significance, 18: clinical_significance_ordered, 19: pathogenic, 20: likely_pathogenic, 21: uncertain_significance, 22: likely_benign, 23: benign, 24: review_status, 25: review_status_ordered, 26: last_evaluated, 27: all_submitters, 28: submitters_ordered, 29: all_traits, 30: all_pmids, 31: inheritance_modes, 32: age_of_onset, 33: prevalence, 34: disease_mechanism, 35: origin, 36: xrefs, 37: dates_ordered, 38: gold_stars, 39: conflicted, ================ -Total rows: 297639 +Total rows: 337024 ================ column 8: variation_type -Variant 297638 -Haplotype 1 +Variant 337024 Name: variation_type, dtype: int64 ================ column 17: clinical_significance -Uncertain significance 120505 -Likely benign 52000 -Pathogenic 45418 -Benign 23698 -Likely pathogenic 15036 -Conflicting interpretations of pathogenicity 12700 -Benign/Likely benign 10935 -not provided 10765 -Pathogenic/Likely pathogenic 3264 -other 1798 -risk factor 394 -drug response 262 -association 136 -Affects 96 -Pathogenic, other 92 -Pathogenic, risk factor 77 -Conflicting interpretations of pathogenicity, risk factor 46 -Benign, risk factor 28 -protective 27 -Pathogenic, drug response 26 -Benign, other 24 -Likely pathogenic, risk factor 24 -Likely benign, risk factor 22 -Benign/Likely benign, risk factor 21 -Pathogenic/Likely pathogenic, risk factor 20 -Conflicting interpretations of pathogenicity, other 18 -Uncertain significance, risk factor 18 -Uncertain significance, drug response 17 -Uncertain significance, other 17 -Likely benign, other 12 - ... -Likely pathogenic, association 2 -Conflicting interpretations of pathogenicity, protective 2 -Likely benign, association 2 -Pathogenic, other, protective 2 -Conflicting interpretations of pathogenicity, association 2 -protective, risk factor 2 -Conflicting interpretations of pathogenicity, Affects, association, risk factor 2 -Benign/Likely benign, Affects 2 -Benign/Likely benign, protective, risk factor 1 -Conflicting interpretations of pathogenicity, Affects, other 1 -Pathogenic/Likely pathogenic, Affects, risk factor 1 -Conflicting interpretations of pathogenicity, Affects, association, other 1 -Likely benign, Affects 1 -Uncertain significance, association 1 -Benign, drug response 1 -Benign, drug response, risk factor 1 -Benign/Likely benign, drug response 1 -Pathogenic, association, protective 1 -Benign, association, protective 1 -Conflicting interpretations of pathogenicity, other, risk factor 1 -Benign/Likely benign, drug response, risk factor 1 -Uncertain significance, Affects 1 -Likely pathogenic, Affects 1 -Benign, association, risk factor 1 -Affects, risk factor 1 -Benign, Affects 1 -Pathogenic, protective, risk factor 1 -Uncertain significance, protective 1 -Benign, protective, risk factor 1 -Likely benign, drug response 1 -Name: clinical_significance, dtype: int64 +Uncertain significance 141062 +Likely benign 60509 +Pathogenic 48077 +Benign 26162 +Likely pathogenic 16207 +Conflicting interpretations of pathogenicity 15297 +Benign/Likely benign 12445 +not provided 10185 +Pathogenic/Likely pathogenic 3750 +other 1795 +risk factor 383 +drug response 262 +association 136 +Affects 98 +Pathogenic, other 92 +Pathogenic, risk factor 75 +Conflicting interpretations of pathogenicity, risk factor 53 +Benign, risk factor 32 +protective 31 +Pathogenic, drug response 26 +Uncertain significance, risk factor 25 +Benign, other 24 +Benign/Likely benign, risk factor 24 +Pathogenic/Likely pathogenic, risk factor 22 +Likely pathogenic, risk factor 22 +Uncertain significance, other 20 +Conflicting interpretations of pathogenicity, other 20 +Likely benign, risk factor 18 +Uncertain significance, drug response 16 +Likely benign, other 12 + ... +Benign/Likely benign, Affects 2 +Conflicting interpretations of pathogenicity, protective 2 +Uncertain significance, association 2 +Likely pathogenic, association 2 +Pathogenic, other, protective 2 +Conflicting interpretations of pathogenicity, association, other, risk factor 2 +Likely benign, protective 2 +Likely benign, association 2 +Pathogenic/Likely pathogenic, Affects, risk factor 1 +Uncertain significance, Affects 1 +Conflicting interpretations of pathogenicity, other, risk factor 1 +Benign, protective, risk factor 1 +Conflicting interpretations of pathogenicity, Affects, other 1 +Pathogenic, association, protective 1 +Benign, association, protective 1 +Likely benign, drug response 1 +Benign/Likely benign, protective, risk factor 1 +- 1 +Likely benign, Affects 1 +Benign, Affects 1 +Conflicting interpretations of pathogenicity, Affects, association, other 1 +Pathogenic, protective, risk factor 1 +Benign, drug response 1 +Benign/Likely benign, drug response 1 +Uncertain significance, protective 1 +Affects, risk factor 1 +Benign, association, risk factor 1 +Likely pathogenic, Affects 1 +Benign/Likely benign, drug response, risk factor 1 +Benign, drug response, risk factor 1 +Name: clinical_significance, Length: 79, dtype: int64 ================ column 24: review_status -criteria provided, single submitter 196439 -criteria provided, multiple submitters, no conflicts 35291 -no assertion criteria provided 33768 -criteria provided, conflicting interpretations 12655 -no assertion provided 10761 -reviewed by expert panel 8604 -no assertion for the individual variant 96 +criteria provided, single submitter 223594 +criteria provided, multiple submitters, no conflicts 45483 +no assertion criteria provided 33492 +criteria provided, conflicting interpretations 15272 +no assertion provided 10181 +reviewed by expert panel 8867 +no assertion for the individual variant 111 practice guideline 23 -- 2 +- 1 Name: review_status, dtype: int64 ================ column 38: gold_stars -1 188163 -0 39573 -2 31536 -1 20931 -3 5599 -0 5052 -2 3755 -3 3005 +1 229514 +2 43273 +0 41635 +1 9352 +3 6195 +3 2672 +2 2210 +0 2149 4 23 -- 2 +- 1 Name: gold_stars, dtype: int64 ================ column 27: all_submitters -Illumina Clinical Services Laboratory,Illumina 75012 -GeneDx 38548 -Invitae, 20584 -EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 14541 -OMIM 14288 -Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8778 -Ambry Genetics 8199 -Genetic Services Laboratory, University of Chicago 7766 -PreventionGenetics 4783 -GeneReviews 2346 -Counsyl 2184 -PreventionGenetics;Illumina Clinical Services Laboratory,Illumina 1800 -GeneDx;Invitae, 1705 -Praxis fuer Humangenetik Tuebingen, 1639 -Ambry Genetics;Invitae, 1520 -ITMI 1483 -Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 1448 -Illumina Clinical Services Laboratory,Illumina;GeneDx 1419 -EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx 1242 -Invitae,;GeneDx 1229 -Tuberous sclerosis database (TSC2) 1184 -InSiGHT 1173 -EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Illumina Clinical Services Laboratory,Illumina 1123 -ARUP Laboratories, Molecular Genetics and Genomics 1068 -Retina International 1037 -Systems Biology Platform Zhejiang California International NanoSystems Institute 1004 -Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx 984 -GeneReviews;OMIM 935 -ARUP Institute,ARUP Laboratories 922 -Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 914 - ... -OMIM;Mendelics Analise Genomica;Genetic Services Laboratory, University of Chicago 1 -GeneDx;Illumina Clinical Services Laboratory,Illumina;Knight Diagnostic Laboratories,Oregon Health and Sciences University 1 -OMIM;GeneDx;Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Blueprint Genetics;Biesecker Lab/Human Development Section,National Institutes of Health;Invitae,;Illumina Clinical Services Laboratory,Illumina;Ambry Genetics 1 -Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg;GeneDx 1 -Breast Cancer Information Core (BIC) (BRCA2);Sharing Clinical Reports Project (SCRP);Invitae,;CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario;GeneDx 1 -Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency;Invitae,;Illumina Clinical Services Laboratory,Illumina;Breast Cancer Information Core (BIC) (BRCA2);Sharing Clinical Reports Project (SCRP);Quest Diagnostics Nichols Institute San Juan Capistrano;ITMI;Department of Pathology and Laboratory Medicine,Sinai Health System;GeneDx;Ambry Genetics;CSER_CC_NCGL, University of Washington Medical Center 1 -Center for Bioinformatics, Peking University;Athena Diagnostics Inc;GeneDx;Invitae, 1 -OMIM;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneReviews;GeneDx;Division of Human Genetics,Children's Hospital of Philadelphia 1 -Invitae,;Breast Cancer Information Core (BIC) (BRCA1);Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA);Ambry Genetics;Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 1 -EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust;GeneDx 1 -GeneReviews;OMIM;Reutter Lab, Institute of Human Genetics,University Hospital Bonn 1 -Ambry Genetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Department of Pathology and Laboratory Medicine,Sinai Health System;Invitae,;Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA);Michigan Medical Genetics Laboratories,University of Michigan;Baylor Miraca Genetics Laboratories 1 -PreventionGenetics;ARUP Laboratories, Molecular Genetics and Genomics;ITMI;Invitae,;Illumina Clinical Services Laboratory,Illumina;Caryl and Israel Englander Institute for Precision Medicine,Weill Cornell Medicine 1 -Ambry Genetics;Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 1 -OMIM;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae,;Counsyl;GeneDx 1 -Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP);GeneDx 1 -GeneDx;Ambry Genetics;Section on Medical Neuroendocrinolgy,National Institutes of Health 1 -ARUP Laboratories, Molecular Genetics and Genomics;PreventionGenetics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Ambry Genetics;Illumina Clinical Services Laboratory,Illumina;Invitae, 1 -Biesecker Lab/Human Development Section,National Institutes of Health;Agnes Ginges Centre for Molecular Cardiology,Centenary Institute;Illumina Clinical Services Laboratory,Illumina 1 -OMIM;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;Genetic Services Laboratory, University of Chicago 1 -OMIM;Baylor Miraca Genetics Laboratories;Illumina Clinical Services Laboratory,Illumina 1 -Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency;Department of Pathology and Laboratory Medicine,Sinai Health System;GeneDx;Department of Pathology and Molecular Medicine,Queen's University;Breast Cancer Information Core (BIC) (BRCA1);Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA);Sharing Clinical Reports Project (SCRP);Counsyl;CSER_CC_NCGL, University of Washington Medical Center;Ambry Genetics;Invitae,;CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 -Breast Cancer Information Core (BIC) (BRCA1);Ambry Genetics;Invitae,;GeneDx 1 -GeneReviews;OMIM;Invitae,;Athena Diagnostics Inc;GeneDx 1 -Tuberous sclerosis database (TSC2);GeneDx;Genetic Services Laboratory, University of Chicago;Ambry Genetics;Invitae, 1 -CSER_CC_NCGL, University of Washington Medical Center;Laboratory Corporation of America;Illumina Clinical Services Laboratory,Illumina;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Ambry Genetics;Invitae, 1 -Centre for Genomic and Experimental Medicine,University of Edinburgh;Genetic Services Laboratory, University of Chicago 1 -Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital;Genetic Services Laboratory, University of Chicago;GeneDx 1 -Illumina Clinical Services Laboratory,Illumina;Laboratory of Molecular Genetics,CHU RENNES 1 -Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Invitae,;GeneReviews;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;CSER_CC_NCGL, University of Washington Medical Center 1 -Name: all_submitters, dtype: int64 +Illumina Clinical Services Laboratory,Illumina 73494 +Invitae 39773 +GeneDx 39288 +Ambry Genetics 15211 +OMIM 14246 +EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 13477 +Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 8448 +Genetic Services Laboratory, University of Chicago 7455 +PreventionGenetics 4458 +Invitae;Ambry Genetics 3664 +GeneDx;Invitae 3453 +Ambry Genetics;Invitae 2492 +GeneReviews 2306 +Counsyl 2157 +Athena Diagnostics Inc 1980 +Illumina Clinical Services Laboratory,Illumina;Invitae 1652 +Praxis fuer Humangenetik Tuebingen 1571 +Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1553 +PreventionGenetics;Illumina Clinical Services Laboratory,Illumina 1486 +Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 1422 +ITMI 1394 +Illumina Clinical Services Laboratory,Illumina;GeneDx 1209 +Tuberous sclerosis database (TSC2) 1138 +InSiGHT 1092 +Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge;Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 1080 +Retina International 1029 +ClinVar Staff, National Center for Biotechnology Information (NCBI) 1014 +Systems Biology Platform Zhejiang California International NanoSystems Institute 1002 +ARUP Laboratories, Molecular Genetics and Genomics 990 +EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Invitae 979 + ... +Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg;OMIM;Baylor Miraca Genetics Laboratories 1 +GeneReviews;Illumina Clinical Services Laboratory,Illumina;PreventionGenetics;Genetic Services Laboratory, University of Chicago 1 +Breast Cancer Information Core (BIC) (BRCA2);Ambry Genetics;Quest Diagnostics Nichols Institute San Juan Capistrano;GeneDx;Department of Pathology and Laboratory Medicine,Sinai Health System 1 +Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital;Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum;LDLR-LOVD, British Heart Foundation;Robarts Research Institute,University of Western Ontario;Fundacion Hipercolesterolemia Familiar 1 +InSiGHT;Invitae;Ambry Genetics;Counsyl;GeneDx 1 +OMIM;Chan Lab,Boston Children's Hospital;GeneDx 1 +ClinGen Inherited Cardiomyopathy Expert Panel;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Stanford Center for Inherited Cardiovascular Disease,Stanford University;Agnes Ginges Centre for Molecular Cardiology,Centenary Institute;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 1 +OMIM;Laboratory of Genetic Epidemiology,Research Centre of Medical Genetics;GeneDx;Invitae 1 +EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;Ambry Genetics 1 +Laboratory Corporation of America;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Invitae;Ambry Genetics 1 +OMIM;Counsyl;Invitae;Database of Curated Mutations (DoCM);GeneDx 1 +CSER_CC_NCGL, University of Washington Medical Center;Counsyl;Invitae;University of Washington Department of Laboratory Medicine,University of Washington;Ambry Genetics;GeneDx 1 +Invitae;Breast Cancer Information Core (BIC) (BRCA2);Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA);Sharing Clinical Reports Project (SCRP);Counsyl;Ambry Genetics;Quest Diagnostics Nichols Institute San Juan Capistrano 1 +Breast Cancer Information Core (BIC) (BRCA1);Department of Pathology and Laboratory Medicine,Sinai Health System;Ambry Genetics 1 +Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine;International Pleuropulmonary Blastoma Registry,Children's Hospitals and Clinics of Minnesota 1 +Counsyl;Invitae;Ambry Genetics;Illumina Clinical Services Laboratory,Illumina;GeneDx 1 +Tuberous sclerosis database (TSC2);Illumina Clinical Services Laboratory,Illumina;GeneDx;Ambry Genetics;Athena Diagnostics Inc;Invitae 1 +Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto;CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario;Department of Pathology and Molecular Medicine,Queen's University;Invitae;Breast Cancer Information Core (BIC) (BRCA2);Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge;Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA);Sharing Clinical Reports Project (SCRP) 1 +GeneReviews;Division of Human Genetics,Children's Hospital of Philadelphia;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;Counsyl;Invitae;Fulgent Genetics;ARUP Institute,ARUP Laboratories;Genetic Services Laboratory, University of Chicago;GeneDx;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics;ARUP Laboratories, Molecular Genetics and Genomics 1 +Ambry Genetics;Invitae;Counsyl;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 +OMIM;Genetic Services Laboratory, University of Chicago;GeneReviews;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 +Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario;Ambry Genetics;Illumina Clinical Services Laboratory,Illumina;Invitae 1 +Hereditary Research Laboratory,Bethlehem University;Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 1 +Breast Cancer Information Core (BIC) (BRCA2);Sharing Clinical Reports Project (SCRP);Counsyl;Quest Diagnostics Nichols Institute San Juan Capistrano;GeneDx;Ambry Genetics;Invitae 1 +Sharing Clinical Reports Project (SCRP);Ambry Genetics;Laboratory Corporation of America 1 +Ambry Genetics;Division of Genomic Diagnostics,The Children's Hospital of Philadelphia;Counsyl;Invitae;Quest Diagnostics Nichols Institute San Juan Capistrano;GeneDx 1 +OMIM;Database of Curated Mutations (DoCM);Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneReviews;Laboratory of Translational Genomics, National Cancer Institute 1 +Breast Cancer Information Core (BIC) (BRCA2);Quest Diagnostics Nichols Institute San Juan Capistrano;Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA);Sharing Clinical Reports Project (SCRP);Counsyl;Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge;GeneDx;Ambry Genetics;Department of Pathology and Laboratory Medicine,Sinai Health System;Invitae 1 +OMIM;Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine;GeneDx;Biesecker Lab/Human Development Section,National Institutes of Health;Laboratory of Genetics and Molecular Cardiology,University of São Paulo;Invitae;Ambry Genetics;Praxis fuer Humangenetik Tuebingen 1 +Biesecker Lab/Human Development Section,National Institutes of Health;Tuberous sclerosis database (TSC2);Illumina Clinical Services Laboratory,Illumina;Ambry Genetics;EGL Genetic Diagnostics,Eurofins Clinical Diagnostics;GeneDx;Invitae 1 +Name: all_submitters, Length: 13717, dtype: int64 ================ column 31: inheritance_modes Series([], Name: inheritance_modes, dtype: int64) @@ -170,82 +169,84 @@ column 33: prevalence Series([], Name: prevalence, dtype: int64) ================ column 34: disease_mechanism -loss of function 32382 -gain of function 1917 -Disease mechanisms vary by gene. 854 -gain of function;loss of function 208 -loss of function;gain of function 196 -Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function 190 -Affects gamma-sarcoglycan and also disrupts the integrity of the entire sarcoglycan complex. 137 +loss of function 34896 +gain of function 2147 +More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del.;loss of function 982 +Disease mechanisms vary by gene. 931 +gain of function;loss of function 225 +Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function 204 +loss of function;gain of function 202 +Affects gamma-sarcoglycan and also disrupts the integrity of the entire sarcoglycan complex. 194 Other 107 -May be benign 64 +May be benign 69 unknown 33 Disease mechanisms vary by gene.;loss of function 5 +loss of function;More than 1,000 CFTR variants have been reported. Most common pathogenic variant is p.Phe508del. 3 gain of function;Disease mechanisms vary by gene. 2 Fabry disease is due to inactivating mutations in the X-linked GLA gene resulting in deficiency of the enzyme Alpha Galactosidase-A.;loss of function;Disease mechanisms vary by gene. 1 Dominant Negative 1 Name: disease_mechanism, dtype: int64 ================ column 35: origin -germline 264840 -not provided 7541 -unknown 7429 -germline;unknown 5406 -somatic 2538 -germline;not provided 2415 -de novo 1150 -not provided;germline 1042 -unknown;germline 874 -inherited 616 -maternal 433 -germline;not provided;unknown 288 -germline;somatic 277 -de novo;germline 273 -paternal 244 -not provided;unknown 231 -germline;inherited 206 -germline;de novo 197 -germline;maternal 161 -germline;not applicable 156 -somatic;germline 135 -germline;paternal 127 -not provided;germline;unknown 66 -germline;unknown;not provided 56 -not applicable 51 -germline;maternal;unknown 46 -inherited;germline 44 -not provided;unknown;germline 41 -de novo;germline;unknown 36 -de novo;unknown 32 - ... -unknown;maternal 1 -germline;maternal;unknown;not provided 1 -not provided;germline;unknown;maternal 1 -somatic;germline;maternal;paternal 1 -de novo;not provided;unknown 1 -not provided;de novo;germline;unknown 1 -de novo;not provided 1 -germline;paternal;unknown;de novo 1 -germline;somatic;not provided;unknown 1 -de novo;somatic 1 -not provided;inherited;germline 1 -unknown;germline;de novo 1 -germline;somatic;paternal;unknown 1 -somatic;germline;not provided;unknown 1 -unknown;germline;de novo;somatic 1 -germline;not applicable;inherited;unknown 1 -germline;somatic;de novo 1 -germline;not provided;biparental 1 -germline;not applicable;not provided;unknown 1 -not provided;germline;unknown;paternal 1 -germline;unknown;maternal;de novo;inherited 1 -germline;de novo;unknown;somatic 1 -germline;not applicable;somatic 1 -inherited;maternal;not provided 1 -not provided;germline;de novo 1 -maternal;not provided;unknown 1 -not provided;paternal;germline 1 -germline;unknown;inherited 1 -germline;unknown;de novo;maternal 1 -germline;not provided;unknown;inherited 1 -Name: origin, dtype: int64 +germline 303123 +unknown 7407 +not provided 7404 +germline;unknown 6051 +somatic 2549 +germline;not provided 2415 +de novo 1168 +not provided;germline 1083 +unknown;germline 1053 +inherited 646 +maternal 470 +germline;not provided;unknown 379 +de novo;germline 292 +paternal 275 +germline;somatic 271 +germline;inherited 233 +not provided;unknown 231 +germline;de novo 184 +somatic;germline 171 +germline;maternal 170 +germline;not applicable 156 +germline;paternal 135 +not provided;germline;unknown 68 +germline;unknown;not provided 68 +not applicable 55 +inherited;germline 51 +germline;maternal;unknown 50 +not provided;unknown;germline 43 +de novo;germline;unknown 40 +maternal;germline 40 + ... +germline;maternal;biparental;inherited 1 +inherited;maternal;not provided 1 +maternal;not provided;unknown 1 +not provided;somatic;germline;unknown 1 +de novo;paternal 1 +not provided;unknown;paternal;germline 1 +germline;de novo;not provided 1 +germline;not provided;unknown;maternal 1 +unknown;germline;paternal 1 +germline;unknown;de novo;not provided 1 +not provided;maternal;germline 1 +germline;unknown;somatic;de novo 1 +de novo;maternal;paternal;unknown 1 +inherited;paternal 1 +germline;somatic;paternal;unknown 1 +germline;maternal;unknown;not provided 1 +de novo;germline;not provided;unknown;maternal 1 +germline;not provided;unknown;tested-inconclusive 1 +germline;paternal;unknown;not provided 1 +inherited;paternal;germline 1 +not provided;paternal 1 +de novo;germline;unknown;maternal 1 +germline;maternal;unknown;paternal 1 +germline;not provided;unknown;somatic;de novo 1 +maternal;paternal;unknown 1 +inherited;not provided;germline;unknown 1 +germline;uniparental 1 +maternal;inherited;unknown 1 +unknown;germline;not provided 1 +germline;inherited;not provided;unknown 1 +Name: origin, Length: 213, dtype: int64